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- Rare genetic disease ORPHA:98053
- RASopathy ORPHA:536391
- Mosaic Legius syndrome ORPHA:634511
- Noonan syndrome and Noonan-related syndrome ORPHA:98733
- Noonan syndrome ORPHA:648
- Costello syndrome ORPHA:3071
- Noonan syndrome with multiple lentigines ORPHA:500
- Cardiofaciocutaneous syndrome ORPHA:1340
- Noonan syndrome-like disorder with loose anagen hair ORPHA:2701
- Noonan syndrome-like disorder with juvenile myelomonocytic leukemia ORPHA:363972
- Neurofibromatosis-Noonan syndrome ORPHA:638
- Legius syndrome ORPHA:137605
- Capillary malformation-arteriovenous malformation ORPHA:137667
- Neurofibromatosis type 1 ORPHA:636
- Biological anomaly without phenotypic characterization ORPHA:447874
- Imprinting disorders ORPHA:641343
- Angelman syndrome ORPHA:72
- Angelman syndrome due to maternal 15q11q13 deletion ORPHA:98794
- Angelman syndrome due to paternal uniparental disomy of chromosome 15 ORPHA:98795
- Angelman syndrome due to a point mutation ORPHA:411511
- Angelman syndrome due to imprinting defect in 15q11-q13 ORPHA:411515
- Prader-Willi syndrome ORPHA:739
- Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 ORPHA:98754
- Prader-Willi syndrome due to paternal 15q11q13 deletion ORPHA:98793
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 ORPHA:177901
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 ORPHA:177904
- Prader-Willi syndrome due to translocation ORPHA:177907
- Prader-Willi syndrome due to imprinting mutation ORPHA:177910
- Schaaf-Yang syndrome ORPHA:398069
- Silver-Russell syndrome ORPHA:813
- Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 ORPHA:96182
- Silver-Russell syndrome due to 7p11.2p13 microduplication ORPHA:231137
- Silver-Russell syndrome due to an imprinting defect of 11p15 ORPHA:231140
- Silver-Russell syndrome due to 11p15 microduplication ORPHA:231144
- Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 ORPHA:231147
- Silver-Russell syndrome due to a point mutation ORPHA:397590
- Beckwith-Wiedemann syndrome ORPHA:116
- Beckwith-Wiedemann syndrome due to 11p15 microduplication ORPHA:96076
- Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 ORPHA:96193
- Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 ORPHA:231117
- Beckwith-Wiedemann syndrome due to CDKN1C mutation ORPHA:231120
- Beckwith-Wiedemann syndrome due to 11p15 microdeletion ORPHA:231127
- Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion ORPHA:231130
- Beckwith-Wiedemann syndrome due to NSD1 mutation ORPHA:238613
- Transient neonatal diabetes mellitus ORPHA:99886
- Temple syndrome ORPHA:254516
- Temple syndrome due to maternal uniparental disomy of chromosome 14 ORPHA:96184
- Temple syndrome due to paternal 14q32.2 microdeletion ORPHA:254525
- Temple syndrome due to paternal 14q32.2 hypomethylation ORPHA:254531
- Kagami-Ogata syndrome ORPHA:254519
- Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 ORPHA:96334
- Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion ORPHA:254528
- Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation ORPHA:254534
- Pseudohypoparathyroidism type 1A ORPHA:79443
- Pseudohypoparathyroidism type 1C ORPHA:79444
- Pseudopseudohypoparathyroidism ORPHA:79445
- Pseudohypoparathyroidism type 1B ORPHA:94089
- Rare chromosomal anomaly ORPHA:68335
- Mosaic variegated aneuploidy syndrome ORPHA:1052
- Polyploidy syndrome ORPHA:96321
- Autosomal anomaly syndrome ORPHA:98127
- Ring chromosome syndrome ORPHA:363203
- Ring chromosome 3 syndrome ORPHA:96172
- Ring chromosome 9 syndrome ORPHA:96173
- Ring chromosome 11 syndrome ORPHA:96175
- Ring chromosome 13 syndrome ORPHA:96176
- Ring chromosome 15 syndrome ORPHA:96177
- Ring chromosome 16 syndrome ORPHA:96178
- Ring chromosome 5 syndrome ORPHA:251043
- Ring chromosome 18 syndrome ORPHA:1442
- Ring chromosome 22 syndrome ORPHA:1446
- Ring chromosome 1 syndrome ORPHA:1437
- Ring chromosome 10 syndrome ORPHA:1438
- Ring chromosome 12 syndrome ORPHA:1439
- Ring chromosome 20 syndrome ORPHA:1444
- Ring chromosome 4 syndrome ORPHA:1447
- Ring chromosome 6 syndrome ORPHA:1448
- Ring chromosome 8 syndrome ORPHA:1450
- Ring chromosome 21 syndrome ORPHA:1445
- Ring chromosome 14 syndrome ORPHA:1440
- Ring chromosome 19 syndrome ORPHA:1443
- Ring chromosome 7 syndrome ORPHA:1449
- Ring chromosome 17 syndrome ORPHA:1441
- Ring chromosome 2 syndrome ORPHA:96171
- Autosomal trisomy syndrome ORPHA:98130
- Total autosomal trisomy syndrome ORPHA:98131
- Trisomy 13 syndrome ORPHA:3378
- Trisomy 18 syndrome ORPHA:3380
- Mosaic trisomy 14 syndrome ORPHA:1703
- Mosaic trisomy 1 syndrome ORPHA:1692
- Mosaic trisomy 12 syndrome ORPHA:1698
- Mosaic trisomy 15 syndrome ORPHA:1706
- Mosaic trisomy 16 syndrome ORPHA:1708
- Mosaic trisomy 17 syndrome ORPHA:1711
- Mosaic trisomy 2 syndrome ORPHA:1723
- Mosaic trisomy 20 syndrome ORPHA:1724
- Mosaic trisomy 7 syndrome ORPHA:1747
- Mosaic trisomy 4 syndrome ORPHA:96059
- Mosaic trisomy 5 syndrome ORPHA:96060
- Mosaic trisomy 8 syndrome ORPHA:96061
- Mosaic trisomy 10 syndrome ORPHA:96063
- Mosaic trisomy 22 syndrome ORPHA:96068
- Mosaic trisomy 9 syndrome ORPHA:99776
- Mosaic trisomy 3 syndrome ORPHA:100071
- Down syndrome ORPHA:870
- Partial autosomal duplication/triplication syndrome ORPHA:98132
- Tetrasomy 21 syndrome ORPHA:96055
- Partial duplication of chromosome 1 syndrome ORPHA:262191
- Partial duplication of the long arm of chromosome 1 syndrome ORPHA:262833
- Partial duplication of the short arm of chromosome 1 syndrome ORPHA:264431
- Partial duplication of chromosome 2 syndrome ORPHA:262196
- Partial duplication of the short arm of chromosome 2 syndrome ORPHA:262698
- Partial duplication of the long arm of chromosome 2 syndrome ORPHA:262842
- Partial duplication of chromosome 3 syndrome ORPHA:262201
- Partial duplication of the short arm of chromosome 3 syndrome ORPHA:262707
- Partial duplication of the long arm of chromosome 3 syndrome ORPHA:262851
- Partial duplication of chromosome 4 syndrome ORPHA:262206
- Partial duplication of the short arm of chromosome 4 syndrome ORPHA:262716
- Partial duplication of the long arm of chromosome 4 syndrome ORPHA:262860
- Partial duplication/triplication of chromosome 5 syndrome ORPHA:262211
- Partial duplication/triplication of the short arm of chromosome 5 syndrome ORPHA:262725
- Trisomy 5p syndrome ORPHA:1742
- Tetrasomy 5p syndrome ORPHA:3309
- 5p13 microduplication syndrome ORPHA:329802
- Partial duplication of the long arm of chromosome 5 syndrome ORPHA:262869
- Partial duplication of chromosome 6 syndrome ORPHA:262628
- Partial duplication of the short arm of chromosome 6 syndrome ORPHA:262740
- Partial duplication of the long arm of chromosome 6 syndrome ORPHA:262878
- Partial duplication of chromosome 7 syndrome ORPHA:262633
- Partial duplication of the short arm of chromosome 7 syndrome ORPHA:262749
- Distal duplication 7p syndrome ORPHA:96074
- Silver-Russell syndrome due to 7p11.2p13 microduplication ORPHA:231137
- 7p22.1 microduplication syndrome ORPHA:314034
- Partial duplication of the long arm of chromosome 7 syndrome ORPHA:262887
- Partial duplication of chromosome 8 syndrome ORPHA:262638
- Partial duplication of the short arm of chromosome 8 syndrome ORPHA:262758
- Partial duplication of the long arm of chromosome 8 syndrome ORPHA:262896
- Partial duplication/triplication of chromosome 9 syndrome ORPHA:262643
- Partial duplication/triplication of the short arm of chromosome 9 syndrome ORPHA:262767
- Partial duplication of the long arm of chromosome 9 syndrome ORPHA:262905
- Partial duplication of chromosome 10 syndrome ORPHA:262648
- Partial duplication of the short arm of chromosome 10 syndrome ORPHA:262776
- Partial duplication of the long arm of chromosome 10 syndrome ORPHA:262914
- Partial duplication of chromosome 11 syndrome ORPHA:262653
- Partial duplication of the short arm of chromosome 11 syndrome ORPHA:262785
- Beckwith-Wiedemann syndrome due to 11p15 microduplication ORPHA:96076
- Silver-Russell syndrome due to 11p15 microduplication ORPHA:231144
- 11p15.4 microduplication syndrome ORPHA:300305
- Partial duplication of the long arm of chromosome 11 syndrome ORPHA:262923
- Partial duplication/triplication of the short arm of chromosome 12 syndrome ORPHA:262658
- Partial duplication of chromosome 16 syndrome ORPHA:262672
- Partial duplication of the short arm of chromosome 16 syndrome ORPHA:262794
- 16p13.3 microduplication syndrome ORPHA:96078
- 16p11.2p12.2 microduplication syndrome ORPHA:261204
- 16p13.11 microduplication syndrome ORPHA:261243
- Proximal 16p11.2 microduplication syndrome ORPHA:370079
- 16p12.1p12.3 triplication syndrome ORPHA:485405
- Partial duplication of the long arm of chromosome 16 syndrome ORPHA:262959
- Partial duplication of chromosome 17 syndrome ORPHA:262677
- Partial duplication of the short arm of chromosome 17 syndrome ORPHA:262803
- 17p11.2 microduplication syndrome ORPHA:1713
- Charcot-Marie-Tooth disease type 1A ORPHA:101081
- 17p13.3 microduplication syndrome ORPHA:217385
- Trisomy 17p syndrome ORPHA:261290
- Partial duplication of the long arm of chromosome 17 syndrome ORPHA:262968
- Distal duplication 17q syndrome ORPHA:3379
- 17q11.2 microduplication syndrome ORPHA:139474
- 17q21.31 microduplication syndrome ORPHA:217340
- Familial clubfoot due to 17q23.1q23.2 microduplication ORPHA:238578
- 17q12 microduplication syndrome ORPHA:261272
- PMP22-RAI1 contiguous gene duplication syndrome ORPHA:477817
- Partial duplication/triplication of chromosome 18 syndrome ORPHA:262682
- Partial duplication/triplication of the short arm of chromosome 18 syndrome ORPHA:262812
- Partial duplication of the long arm of chromosome 18 syndrome ORPHA:262977
- Partial duplication of chromosome 19 syndrome ORPHA:262687
- Partial duplication of the long arm of chromosome 19 syndrome ORPHA:262986
- Partial duplication of the short arm of chromosome 19 syndrome ORPHA:447985
- Partial duplication of chromosome 20 syndrome ORPHA:262692
- Trisomy 20p syndrome ORPHA:261318
- Partial duplication of the long arm of chromosome 20 syndrome ORPHA:262995
- Partial duplication of the long arm of chromosome 13 syndrome ORPHA:262932
- Partial duplication of the long arm of chromosome 14 syndrome ORPHA:262941
- Distal duplication 14q syndrome ORPHA:1705
- 14q11.2 microduplication syndrome ORPHA:261229
- 14q32 duplication syndrome ORPHA:488280
- Partial duplication of the long arm of chromosome 15 syndrome ORPHA:262950
- Partial duplication of the long arm of chromosome 22 syndrome ORPHA:263004
- Autosomal uniparental disomy syndrome ORPHA:98152
- Maternal uniparental disomy syndrome ORPHA:98153
- Maternal uniparental disomy of chromosome 2 syndrome ORPHA:96179
- Maternal uniparental disomy of chromosome 4 syndrome ORPHA:96180
- Maternal uniparental disomy of chromosome 6 syndrome ORPHA:96181
- Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 ORPHA:96182
- Maternal uniparental disomy of chromosome 9 syndrome ORPHA:96183
- Temple syndrome due to maternal uniparental disomy of chromosome 14 ORPHA:96184
- Maternal uniparental disomy of chromosome 16 syndrome ORPHA:96185
- Maternal uniparental disomy of chromosome 20 syndrome ORPHA:96186
- Maternal uniparental disomy of chromosome 21 syndrome ORPHA:96187
- Maternal uniparental disomy of chromosome 22 syndrome ORPHA:96188
- Maternal uniparental disomy of chromosome 13 syndrome ORPHA:97678
- Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 ORPHA:98754
- Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 ORPHA:231147
- Maternal uniparental disomy of chromosome 1 syndrome ORPHA:251009
- Paternal uniparental disomy syndrome ORPHA:98154
- Paternal uniparental disomy of chromosome 5 syndrome ORPHA:96190
- Paternal uniparental disomy of chromosome 6 syndrome ORPHA:96191
- Paternal uniparental disomy of chromosome 7 syndrome ORPHA:96192
- Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 ORPHA:96193
- Paternal uniparental disomy of chromosome 20 syndrome ORPHA:96194
- Paternal uniparental disomy of chromosome 21 syndrome ORPHA:96195
- Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 ORPHA:96334
- Angelman syndrome due to paternal uniparental disomy of chromosome 15 ORPHA:98795
- Paternal uniparental disomy of chromosome 13 syndrome ORPHA:99324
- Paternal uniparental disomy of chromosome 1 syndrome ORPHA:251004
- Mosaic genome-wide paternal uniparental disomy syndrome ORPHA:329813
- Autosomal monosomy syndrome ORPHA:102020
- Total autosomal monosomy syndrome ORPHA:98141
- Partial autosomal deletion syndrome ORPHA:98142
- Partial deletion of chromosome 1 syndrome ORPHA:261766
- Partial deletion of the short arm of chromosome 1 syndrome ORPHA:261857
- 1p36 deletion syndrome ORPHA:1606
- 1p21.3 microdeletion syndrome ORPHA:293948
- 1p31p32 microdeletion syndrome ORPHA:401986
- Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster ORPHA:615986
- 1p35.2 microdeletion syndrome ORPHA:456298
- Partial deletion of the long arm of chromosome 1 syndrome ORPHA:262001
- Partial deletion of chromosome 2 syndrome ORPHA:261771
- Partial deletion of the short arm of chromosome 2 syndrome ORPHA:261866
- 2p15p16.1 microdeletion syndrome ORPHA:261349
- 2p13.2 microdeletion syndrome ORPHA:363680
- Homozygous 2p21 microdeletion syndrome ORPHA:369886
- Partial deletion of the long arm of chromosome 2 syndrome ORPHA:262010
- 2q37 microdeletion syndrome ORPHA:1001
- Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion ORPHA:1617
- 2q23.1 microdeletion syndrome ORPHA:228402
- 2q31.1 microdeletion syndrome ORPHA:251014
- 2q32q33 deletion syndrome ORPHA:251019
- SATB2-associated syndrome due to a chromosomal rearrangement ORPHA:251028
- Mowat-Wilson syndrome due to monosomy 2q22 ORPHA:261537
- 2q13 microdeletion syndrome ORPHA:684742
- Partial deletion of chromosome 3 syndrome ORPHA:261776
- Partial deletion of the short arm of chromosome 3 syndrome ORPHA:261875
- Partial deletion of the long arm of chromosome 3 syndrome ORPHA:262019
- Partial deletion of chromosome 4 syndrome ORPHA:261781
- Partial deletion of the short arm of chromosome 4 syndrome ORPHA:261884
- Partial deletion of the long arm of chromosome 4 syndrome ORPHA:262029
- Partial deletion of chromosome 5 syndrome ORPHA:261786
- Partial deletion of the short arm of chromosome 5 syndrome ORPHA:261893
- Partial deletion of the long arm of chromosome 5 syndrome ORPHA:262038
- Sotos syndrome ORPHA:821
- Deletion 5q35 syndrome ORPHA:1627
- 5q14.3 microdeletion syndrome ORPHA:228384
- Familial adenomatous polyposis due to 5q22.2 microdeletion ORPHA:261584
- Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion ORPHA:314655
- Contractures-developmental delay-Pierre Robin syndrome ORPHA:436003
- Partial deletion of chromosome 6 syndrome ORPHA:261791
- Partial deletion of the short arm of chromosome 6 syndrome ORPHA:261902
- Partial deletion of the long arm of chromosome 6 syndrome ORPHA:262047
- Partial deletion of chromosome 7 syndrome ORPHA:261796
- Partial deletion of the short arm of chromosome 7 syndrome ORPHA:261911
- Distal deletion 7p syndrome ORPHA:96126
- Greig cephalopolysyndactyly-contiguous gene syndrome ORPHA:658805
- Partial deletion of the long arm of chromosome 7 syndrome ORPHA:262056
- Partial deletion of chromosome 8 syndrome ORPHA:261801
- Partial deletion of the short arm of chromosome 8 syndrome ORPHA:261920
- Partial deletion of the long arm of chromosome 8 syndrome ORPHA:262065
- Partial deletion of chromosome 9 syndrome ORPHA:261806
- Partial deletion of the short arm of chromosome 9 syndrome ORPHA:261929
- Distal deletion 9p syndrome ORPHA:1642
- Monosomy 9p syndrome ORPHA:261112
- 9p13 microdeletion syndrome ORPHA:324313
- Partial deletion of the long arm of chromosome 9 syndrome ORPHA:262074
- Monosomy 9q22.3 syndrome ORPHA:77301
- Kleefstra syndrome due to 9q34 microdeletion ORPHA:96147
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion ORPHA:352665
- 9q31.1q31.3 microdeletion syndrome ORPHA:401923
- 9q33.3q34.11 microdeletion syndrome ORPHA:495818
- 9q21.13 microdeletion syndrome ORPHA:531151
- Partial deletion of chromosome 10 syndrome ORPHA:261811
- Partial deletion of the short arm of chromosome 10 syndrome ORPHA:261938
- Distal deletion 10p syndrome ORPHA:1580
- 10p13-p14 deletion syndrome ORPHA:687695
- ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to 10p15.3 microdeletion ORPHA:687424
- Hypoparathyroidism-sensorineural deafness-renal disease syndrome ORPHA:2237
- Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion ORPHA:284169
- Partial deletion of the long arm of chromosome 10 syndrome ORPHA:262083
- Partial deletion of chromosome 11 syndrome ORPHA:261816
- Partial deletion of the short arm of chromosome 11 syndrome ORPHA:261947
- WAGR syndrome ORPHA:893
- Potocki-Shaffer syndrome ORPHA:52022
- Beckwith-Wiedemann syndrome due to 11p15 microdeletion ORPHA:231127
- Partial deletion of the long arm of chromosome 11 syndrome ORPHA:262092
- Partial deletion of chromosome 16 syndrome ORPHA:261826
- Partial deletion of the short arm of chromosome 16 syndrome ORPHA:261956
- Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis ORPHA:88924
- Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 ORPHA:98791
- Proximal 16p11.2 microdeletion syndrome ORPHA:261197
- 16p11.2p12.2 microdeletion syndrome ORPHA:261211
- Distal 16p11.2 microdeletion syndrome ORPHA:261222
- 16p13.11 microdeletion syndrome ORPHA:261236
- Rubinstein-Taybi syndrome due to 16p13.3 microdeletion ORPHA:353281
- Hao-Fountain syndrome due to 16p13.2 microdeletion ORPHA:500055
- Partial deletion of the long arm of chromosome 16 syndrome ORPHA:262128
- Partial deletion of chromosome 17 syndrome ORPHA:261831
- Partial deletion of the short arm of chromosome 17 syndrome ORPHA:261965
- Hereditary neuropathy with liability to pressure palsies ORPHA:640
- Smith-Magenis syndrome ORPHA:819
- Miller-Dieker syndrome ORPHA:531
- Distal 17p13.3 microdeletion syndrome ORPHA:261257
- Distal 17p13.1 microdeletion syndrome ORPHA:319171
- Partial deletion of the long arm of chromosome 17 syndrome ORPHA:262137
- Partial deletion of chromosome 18 syndrome ORPHA:261836
- Partial deletion of the short arm of chromosome 18 syndrome ORPHA:261974
- Partial deletion of the long arm of chromosome 18 syndrome ORPHA:262146
- Partial deletion of chromosome 19 syndrome ORPHA:261841
- Partial deletion of the short arm of chromosome 19 syndrome ORPHA:261983
- Distal deletion 19p syndrome ORPHA:96129
- 19p13.12 microdeletion syndrome ORPHA:254346
- 19p13.13 microdeletion syndrome ORPHA:357001
- Partial deletion of the long arm of chromosome 19 syndrome ORPHA:262155
- Partial deletion of chromosome 20 syndrome ORPHA:261846
- Partial deletion of the short arm of chromosome 20 syndrome ORPHA:261992
- 20p12.3 microdeletion syndrome ORPHA:261295
- Alagille syndrome due to 20p12 microdeletion ORPHA:261600
- 20p13 microdeletion syndrome ORPHA:313781
- Partial deletion of the long arm of chromosome 20 syndrome ORPHA:262164
- Partial deletion of the long arm of chromosome 13 syndrome ORPHA:262101
- Monosomy 13q14 syndrome ORPHA:1587
- Distal deletion 13q syndrome ORPHA:1590
- Monosomy 13q34 syndrome ORPHA:96168
- 13q12.3 microdeletion syndrome ORPHA:412035
- Partial deletion of the long arm of chromosome 14 syndrome ORPHA:262110
- Distal deletion 14q syndrome ORPHA:96150
- Temple syndrome due to paternal 14q32.2 microdeletion ORPHA:254525
- Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion ORPHA:254528
- 14q11.2 microdeletion syndrome ORPHA:261120
- FOXG1 syndrome due to 14q12 microdeletion ORPHA:261144
- 14q22q23 microdeletion syndrome ORPHA:264200
- 14q24.1q24.3 microdeletion syndrome ORPHA:401935
- Partial deletion of the long arm of chromosome 15 syndrome ORPHA:262119
- Distal deletion 15q syndrome ORPHA:1596
- Deafness-infertility syndrome ORPHA:94064
- 15q24 microdeletion syndrome ORPHA:94065
- Prader-Willi syndrome due to paternal 15q11q13 deletion ORPHA:98793
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 ORPHA:177901
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 ORPHA:177904
- Angelman syndrome due to maternal 15q11q13 deletion ORPHA:98794
- 15q13.3 microdeletion syndrome ORPHA:199318
- 15q11.2 microdeletion syndrome ORPHA:261183
- Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion ORPHA:261190
- Partial deletion of the long arm of chromosome 21 syndrome ORPHA:262173
- 21q deletion syndrome ORPHA:574
- 21q22.11q22.12 microdeletion syndrome ORPHA:261323
- DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion ORPHA:268261
- Partial deletion of the long arm of chromosome 22 syndrome ORPHA:262182
- 22q11.2 deletion syndrome ORPHA:567
- Phelan-McDermid syndrome due to 22q13.3 deletion ORPHA:662169
- Distal 22q11.2 microdeletion syndrome ORPHA:261330
- Partial deletion of chromosome 12 syndrome ORPHA:282124
- Partial deletion of the long arm of chromosome 12 syndrome ORPHA:261821
- 12q14 microdeletion syndrome ORPHA:94063
- Distal deletion 12q syndrome ORPHA:96149
- Non-distal deletion 12q syndrome ORPHA:96160
- 12q15q21 microdeletion syndrome ORPHA:289513
- Partial deletion of the short arm of chromosome 12 syndrome ORPHA:316244
- Complex chromosomal rearrangement syndrome ORPHA:263708
- Overgrowth syndrome with 2q37 translocation ORPHA:498488
- Cat-eye syndrome ORPHA:195
- Inverted duplicated chromosome 15 syndrome ORPHA:3306
- 8p inverted duplication/deletion syndrome ORPHA:96092
- Recombinant 8 syndrome ORPHA:96167
- Emanuel syndrome ORPHA:96170
- Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion ORPHA:231130
- Intellectual disability-seizures-macrocephaly-obesity syndrome ORPHA:369950
- Sex-chromosome anomaly syndrome ORPHA:98155
- Sex-chromosome number anomaly syndrome ORPHA:98156
- X chromosome number anomaly syndrome ORPHA:263714
- X chromosome number anomaly with female phenotype syndrome ORPHA:263717
- Turner syndrome ORPHA:881
- Monosomy X syndrome ORPHA:99226
- Mosaic monosomy X syndrome ORPHA:99228
- Turner syndrome due to structural X chromosome anomalies ORPHA:99413
- Polysomy of X chromosome syndrome ORPHA:263723
- X chromosome number anomaly with male phenotype syndrome ORPHA:263720
- Y chromosome number anomaly syndrome ORPHA:263746
- 47,XYY syndrome ORPHA:8
- 45,X/46,XY mixed gonadal dysgenesis ORPHA:1772
- 48,XYYY syndrome ORPHA:99329
- 49,XYYYY syndrome ORPHA:99330
- X and Y chromosomal anomaly syndrome ORPHA:263749
- Sex-chromosome structural anomaly syndrome ORPHA:98157
- Chromosome Y structural anomaly syndrome ORPHA:98158
- Chromosome Y microdeletion syndrome ORPHA:1646
- Isochromosome Y syndrome ORPHA:96325
- Ring chromosome Y syndrome ORPHA:261529
- Chromosome X structural anomaly syndrome ORPHA:98159
- X small rings syndrome ORPHA:96201
- Partial deletion of chromosome X syndrome ORPHA:263726
- Partial deletion of the short arm of the chromosome X syndrome ORPHA:263731
- Xp22.3 microdeletion syndrome ORPHA:1643
- X-linked intellectual disability-retinitis pigmentosa syndrome ORPHA:85332
- Xp21 deletion syndrome ORPHA:261476
- Atypical Norrie disease due to Xp11.3 microdeletion ORPHA:261501
- Partial deletion of the long arm of chromosome X syndrome ORPHA:263756
- Partial duplication of chromosome X syndrome ORPHA:263768
- Partial duplication of the short arm of chromosome X syndrome ORPHA:263775
- Partial duplication of the long arm of chromosome X syndrome ORPHA:263783
- Uniparental disomy of chromosome X syndrome ORPHA:263793
- Rare genetic tumor ORPHA:68336
- Genetic skin tumor or hamartoma ORPHA:183487
- Neurofibromatosis type 1 ORPHA:636
- 17q11 microdeletion syndrome ORPHA:97685
- Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion ORPHA:363700
- Tuberous sclerosis complex ORPHA:805
- Neurofibromatosis-Noonan syndrome ORPHA:638
- Gorlin syndrome ORPHA:377
- Bazex-Dupré-Christol syndrome ORPHA:113
- Encephalocraniocutaneous lipomatosis ORPHA:2396
- Syringocystadenoma papilliferum ORPHA:840
- Rombo syndrome ORPHA:3110
- Infantile myofibromatosis ORPHA:2591
- Familial melanoma ORPHA:618
- Birt-Hogg-Dubé syndrome ORPHA:122
- Familial keratoacanthoma ORPHA:493
- Hereditary leiomyomatosis and renal cell cancer ORPHA:523
- Dermatofibrosarcoma protuberans ORPHA:31112
- Familial tumoral calcinosis ORPHA:53715
- Familial normophosphatemic tumoral calcinosis ORPHA:306658
- Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome ORPHA:306661
- Multiple self-healing squamous epithelioma ORPHA:65748
- Brooke-Spiegler syndrome ORPHA:79493
- Gardner syndrome ORPHA:79665
- PTEN hamartoma tumor syndrome ORPHA:306498
- Cowden syndrome ORPHA:201
- Lhermitte-Duclos disease ORPHA:65285
- Bannayan-Riley-Ruvalcaba syndrome ORPHA:109
- Proteus-like syndrome ORPHA:2969
- Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome ORPHA:137608
- Generalized basaloid follicular hamartoma syndrome ORPHA:168632
- Hemihyperplasia-multiple lipomatosis syndrome ORPHA:276280
- Familial atypical multiple mole melanoma syndrome ORPHA:404560
- Rare genetic nevus ORPHA:622914
- Cowden syndrome ORPHA:201
- Proteus syndrome ORPHA:744
- CHILD syndrome ORPHA:139
- Epidermal nevus syndrome ORPHA:35125
- Epidermolytic nevus ORPHA:497737
- MME-related autosomal dominant Charcot Marie Tooth disease type 2 ORPHA:497757
- Large/giant congenital melanocytic nevus ORPHA:626
- Linear nevus sebaceus syndrome ORPHA:2612
- Phakomatosis pigmentokeratotica ORPHA:2874
- Proteus-like syndrome ORPHA:2969
- Nevus comedonicus syndrome ORPHA:64754
- Becker nevus syndrome ORPHA:64755
- Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome ORPHA:137608
- CLOVES syndrome ORPHA:140944
- Porokeratotic eccrine ostial and dermal duct nevus ORPHA:166286
- White sponge nevus ORPHA:171723
- PENS syndrome ORPHA:313936
- Familial multiple discoid fibromas ORPHA:538756
- Genetic bone tumor ORPHA:183527
- Ollier disease ORPHA:296
- OSLAM syndrome ORPHA:2760
- Multiple osteochondromas ORPHA:321
- Chordoma ORPHA:178
- Diaphyseal medullary stenosis-bone malignancy syndrome ORPHA:85182
- Maffucci syndrome ORPHA:163634
- Familial ossifying fibroma ORPHA:435329
- Genetic renal tumor ORPHA:183595
- Genetic eye tumor ORPHA:183619
- Hereditary retinoblastoma ORPHA:357027
- Neurofibromatosis type 1 ORPHA:636
- 17q11 microdeletion syndrome ORPHA:97685
- Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion ORPHA:363700
- Ring dermoid of cornea ORPHA:91481
- Genetic gynecological tumor ORPHA:183734
- Genetic soft tissue tumor ORPHA:271832
- Genetic digestive tract tumor ORPHA:271835
- Familial adenomatous polyposis ORPHA:733
- Gardner syndrome ORPHA:79665
- Turcot syndrome with polyposis ORPHA:99818
- Familial adenomatous polyposis due to 5q22.2 microdeletion ORPHA:261584
- Peutz-Jeghers syndrome ORPHA:2869
- Cowden syndrome ORPHA:201
- Hereditary diffuse gastric cancer ORPHA:26106
- Gastrointestinal stromal tumor ORPHA:44890
- Attenuated familial adenomatous polyposis ORPHA:220460
- MUTYH-related attenuated familial adenomatous polyposis ORPHA:247798
- APC-related attenuated familial adenomatous polyposis ORPHA:247806
- MSH3-related attenuated familial adenomatous polyposis ORPHA:480536
- Polymerase proofreading-related adenomatous polyposis ORPHA:447877
- NTHL1-related attenuated familial adenomatous polyposis ORPHA:454840
- Hereditary nonpolyposis colon cancer ORPHA:443909
- Genetic cardiac tumor ORPHA:271841
- Carney complex ORPHA:1359
- Familial atrial myxoma ORPHA:615
- Carney complex-trismus-pseudocamptodactyly syndrome ORPHA:319340
- Genetic urogenital tumor ORPHA:271844
- Genetic neuroendocrine tumor ORPHA:271847
- Chordoma ORPHA:178
- Familial hyperaldosteronism type II ORPHA:404
- Hereditary pheochromocytoma-paraganglioma ORPHA:29072
- Multiple polyglandular tumor ORPHA:100094
- Von Hippel-Lindau disease ORPHA:892
- Carney complex ORPHA:1359
- Carney-Stratakis syndrome ORPHA:97286
- Carney triad ORPHA:139411
- Multiple endocrine neoplasia ORPHA:276161
- Familial nonmedullary thyroid carcinoma ORPHA:319494
- Familial papillary thyroid carcinoma with renal papillary neoplasia ORPHA:97290
- Familial papillary or follicular thyroid carcinoma ORPHA:319487
- Multiple paragangliomas associated with polycythemia ORPHA:324299
- Genetic tumor of hematopoietic and lymphoid tissues ORPHA:322126
- Rare genetic skin disease ORPHA:68346
- Genetic autoinflammatory syndrome with skin involvement ORPHA:622720
- F12-associated cold autoinflammatory syndrome ORPHA:617919
- Tumor necrosis factor receptor 1 associated periodic syndrome ORPHA:32960
- Majeed syndrome ORPHA:77297
- Blau syndrome ORPHA:90340
- NLRP3-associated autoinflammatory disease ORPHA:208650
- Muckle-Wells syndrome ORPHA:575
- CINCA syndrome ORPHA:1451
- Familial cold urticaria ORPHA:47045
- Keratitis fugax hereditaria ORPHA:647815
- Sterile multifocal osteomyelitis with periostitis and pustulosis ORPHA:210115
- NLRP12-associated hereditary periodic fever syndrome ORPHA:247868
- Hyperzincemia and hypercalprotectinemia ORPHA:251523
- Neonatal inflammatory skin and bowel disease ORPHA:294023
- Mevalonate kinase deficiency ORPHA:309025
- Proteasome-associated autoinflammatory syndrome ORPHA:324977
- DITRA ORPHA:404546
- STING-associated vasculopathy with onset in infancy ORPHA:425120
- Periodic fever-infantile enterocolitis-autoinflammatory syndrome ORPHA:436166
- NLRC4-related familial cold autoinflammatory syndrome ORPHA:576349
- SAMD9L-associated autoinflammatory syndrome ORPHA:619367
- Sweet syndrome ORPHA:3243
- NOCARH syndrome ORPHA:619363
- Early-onset autoinflammatory syndrome due to A20 haploinsufficiency ORPHA:674762
- Genetic autoinflammatory syndrome with acne and/or hidradenitis suppurativa ORPHA:652510
- Genetic skin tumor or hamartoma ORPHA:183487
- Neurofibromatosis type 1 ORPHA:636
- 17q11 microdeletion syndrome ORPHA:97685
- Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion ORPHA:363700
- Tuberous sclerosis complex ORPHA:805
- Neurofibromatosis-Noonan syndrome ORPHA:638
- Gorlin syndrome ORPHA:377
- Bazex-Dupré-Christol syndrome ORPHA:113
- Encephalocraniocutaneous lipomatosis ORPHA:2396
- Syringocystadenoma papilliferum ORPHA:840
- Rombo syndrome ORPHA:3110
- Infantile myofibromatosis ORPHA:2591
- Familial melanoma ORPHA:618
- Birt-Hogg-Dubé syndrome ORPHA:122
- Familial keratoacanthoma ORPHA:493
- Hereditary leiomyomatosis and renal cell cancer ORPHA:523
- Dermatofibrosarcoma protuberans ORPHA:31112
- Familial tumoral calcinosis ORPHA:53715
- Familial normophosphatemic tumoral calcinosis ORPHA:306658
- Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome ORPHA:306661
- Multiple self-healing squamous epithelioma ORPHA:65748
- Brooke-Spiegler syndrome ORPHA:79493
- Gardner syndrome ORPHA:79665
- PTEN hamartoma tumor syndrome ORPHA:306498
- Cowden syndrome ORPHA:201
- Lhermitte-Duclos disease ORPHA:65285
- Bannayan-Riley-Ruvalcaba syndrome ORPHA:109
- Proteus-like syndrome ORPHA:2969
- Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome ORPHA:137608
- Generalized basaloid follicular hamartoma syndrome ORPHA:168632
- Hemihyperplasia-multiple lipomatosis syndrome ORPHA:276280
- Familial atypical multiple mole melanoma syndrome ORPHA:404560
- Rare genetic nevus ORPHA:622914
- Cowden syndrome ORPHA:201
- Proteus syndrome ORPHA:744
- CHILD syndrome ORPHA:139
- Epidermal nevus syndrome ORPHA:35125
- Epidermolytic nevus ORPHA:497737
- MME-related autosomal dominant Charcot Marie Tooth disease type 2 ORPHA:497757
- Large/giant congenital melanocytic nevus ORPHA:626
- Linear nevus sebaceus syndrome ORPHA:2612
- Phakomatosis pigmentokeratotica ORPHA:2874
- Proteus-like syndrome ORPHA:2969
- Nevus comedonicus syndrome ORPHA:64754
- Becker nevus syndrome ORPHA:64755
- Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome ORPHA:137608
- CLOVES syndrome ORPHA:140944
- Porokeratotic eccrine ostial and dermal duct nevus ORPHA:166286
- White sponge nevus ORPHA:171723
- PENS syndrome ORPHA:313936
- Familial multiple discoid fibromas ORPHA:538756
- Primary lymphedema ORPHA:77240
- Primary lymphedema without systemic or visceral involvement ORPHA:568041
- Congenital primary lymphedema without systemic or visceral involvement ORPHA:2416
- Amniotic band syndrome ORPHA:295000
- Milroy disease ORPHA:79452
- Microcephaly-lymphedema-chorioretinopathy syndrome ORPHA:2526
- German syndrome ORPHA:2077
- Congenital primary lymphedema of Gordon ORPHA:569821
- Late-onset primary lymphedema without systemic or visceral involvement ORPHA:289825
- Primary lymphedema with systemic or visceral involvement ORPHA:568044
- Dahlberg-Borer-Newcomer syndrome ORPHA:1563
- Lymphedema with yellow nails ORPHA:662
- Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome ORPHA:69735
- Aplasia cutis congenita-intestinal lymphangiectasia syndrome ORPHA:1116
- Lymphedema-atrial septal defects-facial changes syndrome ORPHA:86915
- Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome ORPHA:568056
- PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis ORPHA:568062
- EPHB4-related lymphatic-related hydrops fetalis ORPHA:568065
- Hennekam syndrome ORPHA:2136
- Disorder with multisystemic involvement and primary lymphedema ORPHA:568047
- Fabry disease ORPHA:324
- Takenouchi-Kosaki syndrome ORPHA:487796
- Noonan syndrome ORPHA:648
- Turner syndrome ORPHA:881
- Monosomy X syndrome ORPHA:99226
- Mosaic monosomy X syndrome ORPHA:99228
- Turner syndrome due to structural X chromosome anomalies ORPHA:99413
- Tuberous sclerosis complex ORPHA:805
- Cardiofaciocutaneous syndrome ORPHA:1340
- Prolidase deficiency ORPHA:742
- Oculodentodigital dysplasia ORPHA:2710
- PEHO syndrome ORPHA:2836
- Müllerian derivatives-lymphangiectasia-polydactyly syndrome ORPHA:1655
- Phelan-McDermid syndrome ORPHA:48652
- Phelan-McDermid syndrome due to SHANK3 mutation ORPHA:662172
- Phelan-McDermid syndrome due to 22q13.3 deletion ORPHA:662169
- Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome ORPHA:69088
- PEHO-like syndrome ORPHA:99807
- Unclassified genetic skin disorder ORPHA:79385
- Congenital lethal erythroderma ORPHA:1954
- Multiple benign circumferential skin creases on limbs ORPHA:2505
- Parana hard skin syndrome ORPHA:2812
- Stiff skin syndrome ORPHA:2833
- LUMBAR syndrome ORPHA:83628
- Erythema palmare hereditarium ORPHA:231031
- Metabolic disease with skin involvement ORPHA:79387
- Hyperzincemia and hypercalprotectinemia ORPHA:251523
- Alkaptonuria ORPHA:56
- Multiple carboxylase deficiency ORPHA:148
- Porphyria ORPHA:738
- Erythropoietic porphyria ORPHA:659681
- Congenital erythropoietic porphyria ORPHA:79277
- Autosomal erythropoietic protoporphyria ORPHA:79278
- X-linked erythropoietic protoporphyria ORPHA:443197
- Erythropoietic uroporphyria associated with myeloid malignancy ORPHA:280379
- Hepatoerythropoietic porphyria ORPHA:95159
- Harderoporphyria ORPHA:659672
- Hepatic porphyria ORPHA:659694
- Acrodermatitis enteropathica ORPHA:37
- Prolidase deficiency ORPHA:742
- Mucopolysaccharidosis with skin involvement ORPHA:79388
- Congenital disorder of glycosylation with skin involvement ORPHA:371200
- Musculocontractural Ehlers-Danlos syndrome ORPHA:2953
- CHIME syndrome ORPHA:3474
- Dowling-Degos disease ORPHA:79145
- PMM2-CDG ORPHA:79318
- MPDU1-CDG ORPHA:79323
- COG7-CDG ORPHA:79333
- DK1-CDG ORPHA:91131
- ATP6AP1-CDG ORPHA:692790
- Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome ORPHA:306661
- SRD5A3-CDG ORPHA:324737
- Autosomal recessive cutis laxa type 2A ORPHA:357058
- GM3 synthase deficiency ORPHA:370933
- Premature aging ORPHA:79389
- Hallermann-Streiff-like syndrome ORPHA:2109
- Cockayne syndrome ORPHA:191
- COFS syndrome ORPHA:1466
- Cockayne syndrome type 1 ORPHA:90321
- Cockayne syndrome type 2 ORPHA:90322
- Cockayne syndrome type 3 ORPHA:90324
- Werner syndrome ORPHA:902
- Flynn-Aird syndrome ORPHA:2047
- Hallermann-Streiff syndrome ORPHA:2108
- Acrogeria ORPHA:2500
- Hutchinson-Gilford progeria syndrome ORPHA:740
- Progeria-short stature-pigmented nevi syndrome ORPHA:2959
- De Barsy syndrome ORPHA:2962
- Wiedemann-Rautenstrauch syndrome ORPHA:3455
- Progeroid syndrome, Petty type ORPHA:2963
- Xeroderma pigmentosum-Cockayne syndrome complex ORPHA:220295
- Nestor-Guillermo progeria syndrome ORPHA:280576
- LMNA-related cardiocutaneous progeria syndrome ORPHA:363618
- Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome ORPHA:363649
- Acroosteolysis-keloid-like lesions-premature aging syndrome ORPHA:363665
- PCNA-related progressive neurodegenerative photosensitivity syndrome ORPHA:438134
- Genetic epidermal disorder ORPHA:183426
- Hailey-Hailey disease ORPHA:2841
- Hereditary palmoplantar keratoderma ORPHA:79357
- Diffuse palmoplantar keratoderma ORPHA:307141
- Isolated diffuse palmoplantar keratoderma ORPHA:307148
- Autosomal dominant isolated diffuse palmoplantar keratoderma ORPHA:98349
- Transgrediens et progrediens palmoplantar keratoderma ORPHA:495
- Epidermolytic palmoplantar keratoderma ORPHA:2199
- Diffuse palmoplantar keratoderma, Bothnian type ORPHA:2337
- Diffuse palmoplantar keratoderma with painful fissures ORPHA:369999
- KRT1-related diffuse nonepidermolytic keratoderma ORPHA:530838
- Autosomal recessive isolated diffuse palmoplantar keratoderma ORPHA:98356
- Disease with diffuse palmoplantar keratoderma as a major feature ORPHA:307711
- Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature ORPHA:98352
- KID syndrome ORPHA:477
- Hidrotic ectodermal dysplasia ORPHA:189
- Autosomal dominant palmoplantar keratoderma and congenital alopecia ORPHA:1010
- Palmoplantar keratoderma-deafness syndrome ORPHA:2202
- Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome ORPHA:2698
- Progressive symmetric erythrokeratodermia ORPHA:316
- Huriez syndrome ORPHA:384
- Naegeli-Franceschetti-Jadassohn syndrome ORPHA:69087
- Diffuse palmoplantar keratoderma-acrocyanosis syndrome ORPHA:86918
- Keratosis palmaris et plantaris-clinodactyly syndrome ORPHA:86919
- Dermatopathia pigmentosa reticularis ORPHA:86920
- Curly hair-acral keratoderma-caries syndrome ORPHA:307766
- Autosomal dominant diffuse mutilating palmoplantar keratoderma ORPHA:307773
- Keratoderma hereditarium mutilans ORPHA:494
- Mutilating palmoplantar keratoderma with periorificial keratotic plaques ORPHA:659
- Keratoderma hereditarium mutilans with ichthyosis ORPHA:79395
- Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome ORPHA:281201
- Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome ORPHA:352662
- Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome ORPHA:538574
- Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature ORPHA:307804
- KID syndrome ORPHA:477
- Autosomal recessive palmoplantar keratoderma and congenital alopecia ORPHA:1366
- Haim-Munk syndrome ORPHA:2342
- Odonto-onycho-dermal dysplasia ORPHA:2721
- Papillon-Lefèvre syndrome ORPHA:678
- Naxos disease ORPHA:34217
- Schöpf-Schulz-Passarge syndrome ORPHA:50944
- Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome ORPHA:85112
- Skin fragility-woolly hair-palmoplantar keratoderma syndrome ORPHA:293165
- Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome ORPHA:363523
- Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome ORPHA:447961
- CEDNIK syndrome ORPHA:66631
- Focal palmoplantar keratoderma ORPHA:307837
- Isolated focal palmoplantar keratoderma ORPHA:307846
- Striate palmoplantar keratoderma ORPHA:50942
- Hereditary painful callosities ORPHA:79141
- Focal palmoplantar keratoderma with joint keratoses ORPHA:370002
- Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering ORPHA:402003
- Isolated focal non-epidermolytic palmoplantar keratoderma ORPHA:448264
- Disease with focal palmoplantar keratoderma as a major feature ORPHA:307871
- Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature ORPHA:98353
- Palmoplantar keratoderma-esophageal carcinoma syndrome ORPHA:2198
- Focal palmoplantar and gingival keratoderma ORPHA:2200
- Pachyonychia congenita ORPHA:2309
- Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome ORPHA:307936
- Autosomal recessive disease with focal palmoplantar keratoderma as a major feature ORPHA:98357
- Punctate palmoplantar keratoderma ORPHA:307967
- Isolated punctate palmoplantar keratoderma ORPHA:2338
- Porokeratosis plantaris palmaris et disseminata ORPHA:737
- Punctate palmoplantar keratoderma type 1 ORPHA:79501
- Punctate palmoplantar keratoderma type 2 ORPHA:79502
- Marginal papular palmoplantar keratoderma ORPHA:307995
- Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome ORPHA:444138
- Disease with punctate palmoplantar keratoderma as a major feature ORPHA:308023
- Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature ORPHA:308031
- Hyperkeratosis-hyperpigmentation syndrome ORPHA:1336
- Palmoplantar keratoderma-spastic paralysis syndrome ORPHA:2201
- Hypopigmentation-punctate palmoplantar keratoderma syndrome ORPHA:324561
- Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature ORPHA:308041
- Other genetic epidermal disease ORPHA:79360
- X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome ORPHA:482606
- Lethal acantholytic erosive disorder ORPHA:158687
- Darier disease ORPHA:218
- Absence of fingerprints-congenital milia syndrome ORPHA:1658
- Hereditary bullous dystrophy, macular type ORPHA:1867
- Keratosis follicularis-dwarfism-cerebral atrophy syndrome ORPHA:2339
- Choreoacanthocytosis ORPHA:2388
- Hyperkeratosis lenticularis perstans ORPHA:409
- Keratosis pilaris atrophicans ORPHA:498
- Keratosis follicularis spinulosa decalvans ORPHA:2340
- Ulerythema ophryogenesis ORPHA:3406
- Atrophoderma vermiculata ORPHA:79100
- Keratolytic winter erythema ORPHA:50943
- Severe achondroplasia-developmental delay-acanthosis nigricans syndrome ORPHA:85165
- Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome ORPHA:90301
- Generalized pustular psoriasis ORPHA:247353
- Neonatal inflammatory skin and bowel disease ORPHA:294023
- Severe dermatitis-multiple allergies-metabolic wasting syndrome ORPHA:369992
- Pustulosis palmaris et plantaris ORPHA:163927
- Acrodermatitis continua of Hallopeau ORPHA:163931
- Inherited epidermolysis bullosa ORPHA:79361
- Dystrophic epidermolysis bullosa ORPHA:303
- Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form ORPHA:79408
- Recessive dystrophic epidermolysis bullosa inversa ORPHA:79409
- Localized dystrophic epidermolysis bullosa ORPHA:595356
- Localized dystrophic epidermolysis bullosa, pretibial form ORPHA:79410
- Localized dystrophic epidermolysis bullosa, acral form ORPHA:158673
- Localized dystrophic epidermolysis bullosa, nails only ORPHA:158676
- Self-improving dystrophic epidermolysis bullosa ORPHA:79411
- Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form ORPHA:89842
- Dystrophic epidermolysis bullosa pruriginosa ORPHA:89843
- Autosomal dominant generalized dystrophic epidermolysis bullosa ORPHA:231568
- Epidermolysis bullosa simplex ORPHA:304
- Epidermolysis bullosa simplex without extracutaneous involvement ORPHA:595346
- Epidermolysis bullosa simplex due to BP230 deficiency ORPHA:412181
- Epidermolysis bullosa simplex due to exophilin 5 deficiency ORPHA:412189
- Autosomal dominant generalized epidermolysis bullosa simplex, severe form ORPHA:79396
- Epidermolysis bullosa simplex with mottled pigmentation ORPHA:79397
- Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form ORPHA:79399
- Localized epidermolysis bullosa simplex ORPHA:79400
- PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement ORPHA:79401
- Autosomal recessive generalized epidermolysis bullosa simplex ORPHA:89838
- Epidermolysis bullosa simplex with circinate migratory erythema ORPHA:158681
- Epidermolysis bullosa simplex with extracutaneous involvement ORPHA:595351
- Intermediate epidermolysis bullosa simplex with cardiomyopathy ORPHA:508529
- Epidermolysis bullosa simplex with anodontia/hypodontia ORPHA:2325
- Epidermolysis bullosa simplex with muscular dystrophy ORPHA:257
- Epidermolysis bullosa simplex with pyloric atresia ORPHA:158684
- Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome ORPHA:300333
- Kindler epidermolysis bullosa ORPHA:2908
- Junctional epidermolysis bullosa ORPHA:305
- Laryngo-onycho-cutaneous syndrome ORPHA:2407
- Junctional epidermolysis bullosa with pyloric atresia ORPHA:79403
- Severe generalized junctional epidermolysis bullosa ORPHA:79404
- Junctional epidermolysis bullosa inversa ORPHA:79405
- Late-onset junctional epidermolysis bullosa ORPHA:79406
- Localized junctional epidermolysis bullosa ORPHA:251393
- Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome ORPHA:231556
- Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome ORPHA:306504
- Intermediate generalized junctional epidermolysis bullosa ORPHA:79402
- Seborrhea-like dermatitis with psoriasiform elements ORPHA:168606
- Inherited ichthyosis ORPHA:183435
- Inherited non-syndromic ichthyosis ORPHA:281082
- Recessive X-linked ichthyosis ORPHA:461
- Erythrokeratodermia variabilis ORPHA:317
- Peeling skin syndrome ORPHA:817
- Keratoderma hereditarium mutilans with ichthyosis ORPHA:79395
- Autosomal recessive congenital ichthyosis ORPHA:281097
- Lamellar ichthyosis ORPHA:313
- Harlequin ichthyosis ORPHA:457
- Congenital ichthyosiform erythroderma ORPHA:79394
- Bathing suit ichthyosis ORPHA:100976
- Self-improving collodion baby ORPHA:281122
- Acral self-healing collodion baby ORPHA:281127
- Exfoliative ichthyosis ORPHA:289586
- Keratinopathic ichthyosis ORPHA:281103
- Congenital reticular ichthyosiform erythroderma ORPHA:281190
- Autosomal dominant epidermolytic ichthyosis ORPHA:312
- Superficial epidermolytic ichthyosis ORPHA:455
- Ichthyosis hystrix of Curth-Macklin ORPHA:79503
- Annular epidermolytic ichthyosis ORPHA:281139
- Autosomal recessive epidermolytic ichthyosis ORPHA:512103
- Epidermolytic nevus ORPHA:497737
- Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome ORPHA:281201
- Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome ORPHA:444138
- Inherited ichthyosis syndromic form ORPHA:281085
- X-linked ichthyosis syndrome ORPHA:281210
- CHILD syndrome ORPHA:139
- Ichthyosis follicularis-alopecia-photophobia syndrome ORPHA:2273
- X-linked dominant chondrodysplasia punctata ORPHA:35173
- Syndromic recessive X-linked ichthyosis ORPHA:281090
- Autosomal ichthyosis syndrome ORPHA:281217
- Autosomal ichthyosis syndrome with prominent hair abnormalities ORPHA:281222
- Netherton syndrome ORPHA:634
- Neonatal ichthyosis-sclerosing cholangitis syndrome ORPHA:59303
- Ichthyosis-hypotrichosis syndrome ORPHA:91132
- Trichothiodystrophy ORPHA:33364
- Autosomal ichthyosis syndrome with prominent neurologic signs ORPHA:281238
- Refsum disease ORPHA:773
- Sjögren-Larsson syndrome ORPHA:816
- Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome ORPHA:2269
- Congenital ichthyosis-microcephalus-tetraplegia syndrome ORPHA:2271
- Neu-Laxova syndrome ORPHA:2671
- Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency ORPHA:583602
- Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency ORPHA:583607
- Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency ORPHA:583612
- MEDNIK syndrome ORPHA:171851
- Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome ORPHA:352333
- Autosomal ichthyosis syndrome with fatal disease course ORPHA:281241
- Multiple sulfatase deficiency ORPHA:585
- Arthrogryposis-renal dysfunction-cholestasis syndrome ORPHA:2697
- CEDNIK syndrome ORPHA:66631
- Fetal Gaucher disease ORPHA:85212
- Neu-Laxova syndrome ORPHA:2671
- Autosomal ichthyosis syndrome with other associated signs ORPHA:281244
- KID syndrome ORPHA:477
- Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome ORPHA:3151
- Ichthyosis-oral and digital anomalies syndrome ORPHA:2272
- Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome ORPHA:2274
- Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome ORPHA:2278
- Osteosclerosis-ichthyosis-premature ovarian failure syndrome ORPHA:75325
- X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome ORPHA:3055
- Ichthyosis-prematurity syndrome ORPHA:88621
- DK1-CDG ORPHA:91131
- Neutral lipid storage disease with ichthyosis ORPHA:98907
- Ichthyosis-short stature-brachydactyly-microspherophakia syndrome ORPHA:363992
- Alacrimia-choreoathetosis-liver dysfunction syndrome ORPHA:404454
- Genetic erythrokeratoderma ORPHA:183438
- Pityriasis rubra pilaris ORPHA:2897
- Spinocerebellar ataxia type 34 ORPHA:1955
- Erythrokeratoderma ''en cocardes'' ORPHA:315
- MEDNIK syndrome ORPHA:171851
- Erythrokeratoderma variabilis progressiva ORPHA:308166
- Erythrokeratodermia variabilis ORPHA:317
- Progressive symmetric erythrokeratodermia ORPHA:316
- Hypotrichosis-deafness syndrome ORPHA:330029
- Erythrokeratodermia-cardiomyopathy syndrome ORPHA:476096
- Genetic acrokeratoderma ORPHA:183441
- Van den Bosch syndrome ORPHA:3417
- Acrokeratoelastoidosis of Costa ORPHA:38
- Acrokeratosis verruciformis of Hopf ORPHA:79151
- Punctate acrokeratoderma freckle-like pigmentation ORPHA:99710
- Genetic porokeratosis ORPHA:183444
- Porokeratosis of Mibelli ORPHA:735
- Porokeratosis plantaris palmaris et disseminata ORPHA:737
- Disseminated superficial actinic porokeratosis ORPHA:79152
- Hereditary poikiloderma ORPHA:222628
- Dyskeratosis congenita ORPHA:1775
- Werner syndrome ORPHA:902
- Rothmund-Thomson syndrome ORPHA:2909
- Hereditary sclerosing poikiloderma, Weary type ORPHA:221039
- Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome ORPHA:221043
- Poikiloderma with neutropenia ORPHA:221046
- Hereditary acrokeratotic poikiloderma ORPHA:2907
- Microcephaly-congenital cataract-psoriasiform dermatitis syndrome ORPHA:488168
- Genetic epidermal appendage anomaly ORPHA:183447
- Ectodermal dysplasia syndrome ORPHA:79373
- Arthrogryposis-ectodermal dysplasia syndrome ORPHA:3200
- Ellis Van Creveld syndrome ORPHA:289
- Incontinentia pigmenti ORPHA:464
- Dubowitz syndrome ORPHA:235
- Dyskeratosis congenita ORPHA:1775
- KID syndrome ORPHA:477
- Marshall syndrome ORPHA:560
- Hidrotic ectodermal dysplasia ORPHA:189
- Amelocerebrohypohidrotic syndrome ORPHA:1946
- Acrofacial dysostosis, Weyers type ORPHA:952
- Alopecia-contractures-dwarfism-intellectual disability syndrome ORPHA:1005
- Autosomal dominant palmoplantar keratoderma and congenital alopecia ORPHA:1010
- Amelo-onycho-hypohidrotic syndrome ORPHA:1028
- Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome ORPHA:1071
- Ankyloblepharon filiforme adnatum-cleft palate syndrome ORPHA:1072
- Ankyloblepharon filiforme adnatum-imperforate anus syndrome ORPHA:1074
- AREDYLD syndrome ORPHA:1133
- Cerebellar ataxia-ectodermal dysplasia syndrome ORPHA:1174
- Bartsocas-Papas syndrome ORPHA:1234
- Böök syndrome ORPHA:1262
- Tricho-retino-dento-digital syndrome ORPHA:1264
- Cardiofaciocutaneous syndrome ORPHA:1340
- Autosomal recessive palmoplantar keratoderma and congenital alopecia ORPHA:1366
- Cataract-hypertrichosis-intellectual disability syndrome ORPHA:1375
- Choroidal atrophy-alopecia syndrome ORPHA:1433
- Contractures-ectodermal dysplasia-cleft lip/palate syndrome ORPHA:1484
- Cranioectodermal dysplasia ORPHA:1515
- Dahlberg-Borer-Newcomer syndrome ORPHA:1563
- Hypotrichosis with juvenile macular degeneration ORPHA:1573
- Dermatoosteolysis, Kirghizian type ORPHA:1657
- Dermoodontodysplasia ORPHA:1660
- Barber-Say syndrome ORPHA:1231
- Thumb deformity-alopecia-pigmentation anomaly syndrome ORPHA:2251
- Ectodermal dysplasia-blindness syndrome ORPHA:1806
- Hidrotic ectodermal dysplasia, Christianson-Fourie type ORPHA:1808
- Hidrotic ectodermal dysplasia, Halal type ORPHA:1809
- Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome ORPHA:1812
- Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome ORPHA:1882
- Ectodermal dysplasia-sensorineural deafness syndrome ORPHA:1883
- Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome ORPHA:1816
- Ectodermal dysplasia, trichoodontoonychial type ORPHA:1818
- EEM syndrome ORPHA:1897
- Blepharo-cheilo-odontic syndrome ORPHA:1997
- Gingival fibromatosis-hypertrichosis syndrome ORPHA:2026
- Scalp-ear-nipple syndrome ORPHA:2036
- GAPO syndrome ORPHA:2067
- Focal dermal hypoplasia ORPHA:2092
- Gorlin-Chaudhry-Moss syndrome ORPHA:2095
- Hallermann-Streiff syndrome ORPHA:2108
- Hypertrichosis cubiti ORPHA:2220
- Hypertrichosis lanuginosa congenita ORPHA:2222
- Congenital generalized hypertrichosis, Ambras type ORPHA:1023
- X-linked congenital generalized hypertrichosis ORPHA:79495
- Hypodontia-dysplasia of nails syndrome ORPHA:2228
- Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome ORPHA:2269
- Johanson-Blizzard syndrome ORPHA:2315
- Johnson neuroectodermal syndrome ORPHA:2316
- Pyramidal molars-abnormal upper lip syndrome ORPHA:2561
- Oculodentodigital dysplasia ORPHA:2710
- Oculoosteocutaneous syndrome ORPHA:2713
- Oculotrichodysplasia ORPHA:2718
- Odonto-onycho-dermal dysplasia ORPHA:2721
- Odonto-onycho dysplasia-alopecia syndrome ORPHA:2722
- Odontotrichomelic syndrome ORPHA:2723
- Orofaciodigital syndrome type 1 ORPHA:2750
- Papillon-Lefèvre syndrome ORPHA:678
- Pili torti-onychodysplasia syndrome ORPHA:2890
- Pilodental dysplasia-refractive errors syndrome ORPHA:2892
- Corneodermatoosseous syndrome ORPHA:3194
- Deafness-enamel hypoplasia-nail defects syndrome ORPHA:3220
- Deafness-onychodystrophy syndrome ORPHA:3231
- Conductive deafness-ptosis-skeletal anomalies syndrome ORPHA:3236
- Teebi-Shaltout syndrome ORPHA:3291
- Oculoectodermal syndrome ORPHA:3339
- Trichodental syndrome ORPHA:3351
- Tricho-dento-osseous syndrome ORPHA:3352
- Trichodermodysplasia-dental alterations syndrome ORPHA:3353
- Trichoodontoonychial dysplasia ORPHA:3355
- Trichomegaly-retina pigmentary degeneration-dwarfism syndrome ORPHA:3363
- CHIME syndrome ORPHA:3474
- Cartilage-hair hypoplasia ORPHA:175
- Trichothiodystrophy ORPHA:33364
- Schöpf-Schulz-Passarge syndrome ORPHA:50944
- Carvajal syndrome ORPHA:65282
- Odonto-tricho-ungual-digito-palmar syndrome ORPHA:69082
- Ectodermal dysplasia with natal teeth, Turnpenny type ORPHA:69083
- Pure hair and nail ectodermal dysplasia ORPHA:69084
- Naegeli-Franceschetti-Jadassohn syndrome ORPHA:69087
- Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome ORPHA:69088
- Anonychia with flexural pigmentation ORPHA:69125
- Trichodysplasia-amelogenesis imperfecta syndrome ORPHA:79129
- Dermatopathia pigmentosa reticularis ORPHA:86920
- EEC syndrome and related disorders ORPHA:98609
- ADULT syndrome ORPHA:978
- EEC syndrome ORPHA:1896
- Lacrimoauriculodentodigital syndrome ORPHA:2363
- Limb-mammary syndrome ORPHA:69085
- Fried's tooth and nail syndrome ORPHA:99672
- Dermotrichic syndrome ORPHA:99688
- Lelis syndrome ORPHA:140936
- Ectodermal dysplasia-skin fragility syndrome ORPHA:158668
- Hypohidrotic ectodermal dysplasia ORPHA:238468
- X-linked hypohidrotic ectodermal dysplasia ORPHA:181
- Autosomal recessive hypohidrotic ectodermal dysplasia ORPHA:248
- Autosomal dominant hypohidrotic ectodermal dysplasia ORPHA:1810
- Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome ORPHA:247820
- Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome ORPHA:247827
- Curly hair-acral keratoderma-caries syndrome ORPHA:307766
- Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome ORPHA:307936
- Chondroectodermal dysplasia with night blindness ORPHA:319195
- Cleft lip/palate-ectodermal dysplasia syndrome ORPHA:3253
- Trichorhinophalangeal syndrome ORPHA:324764
- Focal facial dermal dysplasia ORPHA:398166
- Focal facial dermal dysplasia type III ORPHA:1807
- Focal facial dermal dysplasia type I ORPHA:79133
- Focal facial dermal dysplasia type II ORPHA:398173
- Focal facial dermal dysplasia type IV ORPHA:398189
- Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome ORPHA:423454
- CHAND syndrome ORPHA:1401
- Hallermann-Streiff-like syndrome ORPHA:2109
- Skin fragility-woolly hair-palmoplantar keratoderma syndrome ORPHA:293165
- Hypotrichosis-intellectual disability, Lopes type ORPHA:2266
- Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome ORPHA:447961
- Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome ORPHA:685067
- Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies ORPHA:589608
- Hypohidrotic ectodermal dysplasia with immunodeficiency ORPHA:98813
- Genetic hair anomaly ORPHA:183450
- Genetic alopecia ORPHA:481771
- Alopecia-epilepsy-pyorrhea-intellectual disability syndrome ORPHA:1008
- Alopecia universalis ORPHA:701
- Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome ORPHA:1014
- Ichthyosis follicularis-alopecia-photophobia syndrome ORPHA:2273
- Noonan syndrome-like disorder with loose anagen hair ORPHA:2701
- Alopecia-intellectual disability syndrome ORPHA:2850
- Loose anagen syndrome ORPHA:168
- Marie Unna hereditary hypotrichosis ORPHA:444
- Hypotrichosis simplex ORPHA:55654
- Atrichia with papular lesions ORPHA:86819
- Hypotrichosis simplex of the scalp ORPHA:90368
- ANE syndrome ORPHA:157954
- Hereditary hypotrichosis with recurrent skin vesicles ORPHA:217407
- Frontonasal dysplasia-alopecia-genital anomalies syndrome ORPHA:228390
- Hypotrichosis-deafness syndrome ORPHA:330029
- Mandibulofacial dysostosis with alopecia ORPHA:443995
- Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome ORPHA:447961
- Ichthyosis-hypotrichosis syndrome ORPHA:91132
- Rare disorder with hypertrichosis ORPHA:79365
- Amaurosis-hypertrichosis syndrome ORPHA:1021
- Donohue syndrome ORPHA:508
- Barber-Say syndrome ORPHA:1231
- Cataract-hypertrichosis-intellectual disability syndrome ORPHA:1375
- Gingival fibromatosis-hypertrichosis syndrome ORPHA:2026
- Cervical hypertrichosis-peripheral neuropathy syndrome ORPHA:2218
- Hypertrichosis cubiti ORPHA:2220
- Hypertrichosis lanuginosa congenita ORPHA:2222
- Congenital generalized hypertrichosis, Ambras type ORPHA:1023
- X-linked congenital generalized hypertrichosis ORPHA:79495
- Rabson-Mendenhall syndrome ORPHA:769
- Isolated anterior cervical hypertrichosis ORPHA:3387
- Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome ORPHA:476119
- Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome ORPHA:598603
- Isolated hair shaft abnormality ORPHA:79366
- Uncombable hair syndrome ORPHA:1410
- Pili torti ORPHA:2889
- Ringed hair disease ORPHA:169
- Woolly hair ORPHA:170
- Monilethrix ORPHA:573
- Pili bifurcati ORPHA:720
- Woolly hair nevus ORPHA:79414
- Pili gemini ORPHA:79492
- Syndromic hair shaft abnormality ORPHA:79367
- Björnstad syndrome ORPHA:123
- Menkes disease ORPHA:565
- Pili torti-developmental delay-neurological abnormalities syndrome ORPHA:2891
- Trichodental syndrome ORPHA:3351
- Tricho-dento-osseous syndrome ORPHA:3352
- Trichodysplasia-xeroderma syndrome ORPHA:3361
- Trichothiodystrophy ORPHA:33364
- Syndrome with woolly hair ORPHA:434809
- Familial isolated trichomegaly ORPHA:411788
- Genetic nail anomaly ORPHA:183454
- Isolated nail anomaly ORPHA:79369
- Leukonychia totalis ORPHA:2387
- Isolated congenital anonychia ORPHA:79143
- Idiopathic trachyonychia ORPHA:79153
- Isolated nail clubbing ORPHA:217059
- Autosomal recessive nail dysplasia ORPHA:280654
- Syndromic nail anomaly ORPHA:79370
- Split-foot malformation-mesoaxial polydactyly syndrome ORPHA:488232
- Otoonychoperoneal syndrome ORPHA:2793
- Nail-patella syndrome ORPHA:2614
- Cooks syndrome ORPHA:1487
- Odontomicronychial dysplasia ORPHA:1811
- FLOTCH syndrome ORPHA:2045
- Pachyonychia congenita ORPHA:2309
- Deafness-onychodystrophy syndrome ORPHA:3231
- Anonychia with flexural pigmentation ORPHA:69125
- Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome ORPHA:210133
- Hypotrichosis-deafness syndrome ORPHA:330029
- Temple-Baraitser syndrome ORPHA:420561
- Hirschsprung disease-nail hypoplasia-dysmorphism syndrome ORPHA:2153
- Pectus excavatum-macrocephaly-dysplastic nails syndrome ORPHA:2835
- 9q33.3q34.11 microdeletion syndrome ORPHA:495818
- Genetic sebaceous gland anomaly ORPHA:183460
- Orofaciodigital syndrome type 1 ORPHA:2750
- Steatocystoma multiplex-natal teeth syndrome ORPHA:3184
- Sebocystomatosis ORPHA:841
- Isolated hyperchlorhidrosis ORPHA:542657
- Genetic pigmentation anomaly of the skin ORPHA:183463
- Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome ORPHA:2435
- Genetic hyperpigmentation of the skin ORPHA:183466
- Neurofibromatosis type 1 ORPHA:636
- 17q11 microdeletion syndrome ORPHA:97685
- Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion ORPHA:363700
- Peutz-Jeghers syndrome ORPHA:2869
- McCune-Albright syndrome ORPHA:562
- Dyskeratosis congenita ORPHA:1775
- Fanconi anemia ORPHA:84
- Neurofibromatosis-Noonan syndrome ORPHA:638
- Noonan syndrome with multiple lentigines ORPHA:500
- Hyperkeratosis-hyperpigmentation syndrome ORPHA:1336
- Gastrocutaneous syndrome ORPHA:2069
- Moynahan syndrome ORPHA:2574
- Carney complex ORPHA:1359
- Familial isolated café-au-lait macules ORPHA:2678
- Osteopathia striata-pigmentary dermopathy-white forelock syndrome ORPHA:2779
- Phakomatosis pigmentovascularis ORPHA:2875
- Phakomatosis cesioflammea ORPHA:79483
- Phakomatosis cesiomarmorata ORPHA:79484
- Phakomatosis spilorosea ORPHA:79485
- Dyschromatosis symmetrica hereditaria ORPHA:41
- Dyschromatosis universalis hereditaria ORPHA:241
- Neuroectodermal melanolysosomal disease ORPHA:33445
- Naegeli-Franceschetti-Jadassohn syndrome ORPHA:69087
- Dowling-Degos disease ORPHA:79145
- Familial progressive hyperpigmentation ORPHA:79146
- Linear and whorled nevoid hypermelanosis ORPHA:79150
- X-linked reticulate pigmentary disorder ORPHA:85453
- Dermatopathia pigmentosa reticularis ORPHA:86920
- Terminal osseous dysplasia-pigmentary defects syndrome ORPHA:88630
- Full schwannomatosis ORPHA:93921
- Legius syndrome ORPHA:137605
- H syndrome ORPHA:168569
- Reticulate acropigmentation of Kitamura ORPHA:178307
- Familial generalized lentiginosis ORPHA:231040
- Carney complex-trismus-pseudocamptodactyly syndrome ORPHA:319340
- Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome ORPHA:423454
- Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome ORPHA:488627
- Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome ORPHA:508512
- Mosaic Legius syndrome ORPHA:634511
- Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome ORPHA:1964
- Genetic hypopigmentation of the skin ORPHA:183469
- Albinism-deafness syndrome ORPHA:998
- Oculocutaneous albinism ORPHA:55
- Oculocutaneous albinism type 2 ORPHA:79432
- Oculocutaneous albinism type 3 ORPHA:79433
- Oculocutaneous albinism type 4 ORPHA:79435
- Oculocutaneous albinism type 1 ORPHA:352731
- Oculocutaneous albinism type 1A ORPHA:79431
- Oculocutaneous albinism type 1B ORPHA:79434
- Minimal pigment oculocutaneous albinism type 1 ORPHA:352734
- Temperature-sensitive oculocutaneous albinism type 1 ORPHA:352737
- Oculocutaneous albinism type 7 ORPHA:352745
- Oculocutaneous albinism type 5 ORPHA:370091
- Oculocutaneous albinism type 6 ORPHA:370097
- Oculocutaneous albinism type 8 ORPHA:597733
- Waardenburg syndrome ORPHA:3440
- Waardenburg syndrome type 1 ORPHA:894
- Waardenburg syndrome type 2 ORPHA:895
- Waardenburg syndrome type 3 ORPHA:896
- Waardenburg-Shah syndrome ORPHA:897
- Vici syndrome ORPHA:1493
- Piebaldism ORPHA:2884
- Piebald trait-neurologic defects syndrome ORPHA:2885
- Deaf blind hypopigmentation syndrome, Yemenite type ORPHA:3214
- Tietz syndrome ORPHA:42665
- Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease ORPHA:163746
- Syndromic oculocutaneous albinism ORPHA:284811
- Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome ORPHA:603494
- Chédiak-Higashi syndrome ORPHA:167
- Griscelli syndrome ORPHA:381
- Griscelli syndrome type 1 ORPHA:79476
- Griscelli syndrome type 2 ORPHA:79477
- Griscelli syndrome type 3 ORPHA:79478
- Oculocerebral hypopigmentation syndrome, Cross type ORPHA:2719
- Hermansky-Pudlak syndrome ORPHA:79430
- Hermansky-Pudlak syndrome due to AP-3 deficiency ORPHA:183678
- Hermansky-Pudlak syndrome due to AP3B1 deficiency ORPHA:664500
- Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency ORPHA:664511
- Hermansky-Pudlak syndrome due to BLOC-3 deficiency ORPHA:231500
- Hermansky-Pudlak syndrome due to BLOC-2 deficiency ORPHA:231512
- Hermansky-Pudlak syndrome due to BLOC-1 deficiency ORPHA:231531
- Oculocerebral hypopigmentation syndrome, Preus type ORPHA:2720
- Familial progressive hyper- and hypopigmentation ORPHA:280628
- Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome ORPHA:447961
- Genetic dermis disorder ORPHA:183472
- Genetic skin vascular disorder ORPHA:183478
- Familial Chilblain lupus ORPHA:481662
- Atrophic papulosis ORPHA:656071
- Fabry disease ORPHA:324
- Ataxia-telangiectasia ORPHA:100
- Hereditary hemorrhagic telangiectasia ORPHA:774
- Blue rubber bleb nevus ORPHA:1059
- Angioosteohypertrophic syndrome ORPHA:2346
- Familial multiple nevi flammei ORPHA:624
- Megalencephaly-capillary malformation-polymicrogyria syndrome ORPHA:60040
- Chilblain lupus ORPHA:90280
- Angioma serpiginosum ORPHA:95429
- Maffucci syndrome ORPHA:163634
- Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome ORPHA:313846
- Genetic mixed dermis disorder ORPHA:183481
- Tuberous sclerosis complex ORPHA:805
- Adams-Oliver syndrome ORPHA:974
- Scalp defects-postaxial polydactyly syndrome ORPHA:1003
- Aplasia cutis congenita-intestinal lymphangiectasia syndrome ORPHA:1116
- Aplasia cutis-myopia syndrome ORPHA:1117
- Scalp-ear-nipple syndrome ORPHA:2036
- Focal dermal hypoplasia ORPHA:2092
- Microphthalmia with linear skin defects syndrome ORPHA:2556
- Aplasia cutis congenita ORPHA:1114
- Genetic dermis elastic tissue disorder ORPHA:228215
- Ehlers-Danlos/osteogenesis imperfecta syndrome ORPHA:230857
- Costello syndrome ORPHA:3071
- Cutis laxa ORPHA:209
- Geroderma osteodysplastica ORPHA:2078
- De Barsy syndrome ORPHA:2962
- SCARF syndrome ORPHA:3134
- Arterial tortuosity syndrome ORPHA:3342
- Occipital horn syndrome ORPHA:198
- Autosomal dominant cutis laxa ORPHA:90348
- Autosomal recessive cutis laxa type 1 ORPHA:90349
- Autosomal recessive cutis laxa type 2 ORPHA:90350
- Autosomal recessive cutis laxa type 2A ORPHA:357058
- Autosomal recessive cutis laxa type 2B ORPHA:357064
- RIN2 syndrome ORPHA:217335
- Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies ORPHA:221145
- Craniofaciofrontodigital syndrome ORPHA:363705
- Lethal arteriopathy syndrome due to fibulin-4 deficiency ORPHA:314718
- Pseudoxanthoma elasticum ORPHA:758
- Familial cutaneous collagenoma ORPHA:53296
- Familial reactive perforating collagenosis ORPHA:79147
- Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency ORPHA:91135
- Ehlers-Danlos syndrome ORPHA:98249
- Classical Ehlers-Danlos syndrome ORPHA:287
- Musculocontractural Ehlers-Danlos syndrome ORPHA:2953
- Hypermobile Ehlers-Danlos syndrome ORPHA:285
- Vascular Ehlers-Danlos syndrome ORPHA:286
- Kyphoscoliotic Ehlers-Danlos syndrome ORPHA:536545
- Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency ORPHA:1900
- Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency ORPHA:300179
- Arthrochalasia Ehlers-Danlos syndrome ORPHA:1899
- Dermatosparaxis Ehlers-Danlos syndrome ORPHA:1901
- Periodontal Ehlers-Danlos syndrome ORPHA:75392
- Spondylodysplastic Ehlers-Danlos syndrome ORPHA:536471
- B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome ORPHA:75496
- B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome ORPHA:536467
- SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome ORPHA:157965
- X-linked Ehlers-Danlos syndrome ORPHA:75497
- Brittle cornea syndrome ORPHA:90354
- Myopathic Ehlers-Danlos syndrome ORPHA:536516
- Classical-like Ehlers-Danlos syndrome type 1 ORPHA:230839
- Cardiac-valvular Ehlers-Danlos syndrome ORPHA:230851
- Classical-like Ehlers-Danlos syndrome type 2 ORPHA:536532
- Vascular Ehlers-Danlos-polymicrogyria syndrome ORPHA:636941
- Familial anetoderma ORPHA:228277
- Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa ORPHA:436274
- Dermatoleukodystrophy ORPHA:1659
- Familial articular hypermobility syndrome ORPHA:2295
- Other genetic dermis disorder ORPHA:477808
- Familial dysautonomia ORPHA:1764
- Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome ORPHA:1555
- Juvenile hyaline fibromatosis ORPHA:2028
- Progressive osseous heteroplasia ORPHA:2762
- Pachydermoperiostosis ORPHA:2796
- Antecubital pterygium syndrome ORPHA:2987
- Lipoid proteinosis ORPHA:530
- Dermochondrocorneal dystrophy ORPHA:79149
- Blau syndrome ORPHA:90340
- Linear atrophoderma of Moulin ORPHA:140933
- Familial primary localized cutaneous amyloidosis ORPHA:353220
- Primary non-essential cutis verticis gyrata ORPHA:357225
- Pseudohypoparathyroidism with Albright hereditary osteodystrophy ORPHA:457059
- Pseudohypoparathyroidism type 1A ORPHA:79443
- Pseudohypoparathyroidism type 1C ORPHA:79444
- Pseudopseudohypoparathyroidism ORPHA:79445
- Isolated generalized anhidrosis with normal sweat glands ORPHA:468666
- Genetic subcutaneous tissue disorder ORPHA:183484
- Farber disease ORPHA:333
- Fibrodysplasia ossificans progressiva ORPHA:337
- Cerebrotendinous xanthomatosis ORPHA:909
- Multiple symmetric lipomatosis ORPHA:2398
- Encephalocraniocutaneous lipomatosis ORPHA:2396
- Roch-Leri mesosomatous lipomatosis ORPHA:529
- Genetic lipodystrophy ORPHA:98305
- Proteasome-associated autoinflammatory syndrome ORPHA:324977
- Congenital generalized lipodystrophy ORPHA:528
- Lipodystrophy due to peptidic growth factors deficiency ORPHA:1979
- Mandibuloacral dysplasia ORPHA:2457
- Mandibuloacral dysplasia with type A lipodystrophy ORPHA:90153
- Mandibuloacral dysplasia with type B lipodystrophy ORPHA:90154
- SHORT syndrome ORPHA:3163
- Wiedemann-Rautenstrauch syndrome ORPHA:3455
- Lipodystrophy-intellectual disability-deafness syndrome ORPHA:50811
- Familial partial lipodystrophy ORPHA:98306
- Familial partial lipodystrophy, Dunnigan type ORPHA:2348
- PPARG-related familial partial lipodystrophy ORPHA:79083
- Familial partial lipodystrophy, Köbberling type ORPHA:79084
- AKT2-related familial partial lipodystrophy ORPHA:79085
- PLIN1-related familial partial lipodystrophy ORPHA:280356
- Autosomal semi-dominant severe lipodystrophic laminopathy ORPHA:280365
- CIDEC-related familial partial lipodystrophy ORPHA:435651
- LIPE-related familial partial lipodystrophy ORPHA:435660
- Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome ORPHA:363400
- Keppen-Lubinsky syndrome ORPHA:435628
- Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome ORPHA:686999
- Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome ORPHA:363649
- Nestor-Guillermo progeria syndrome ORPHA:280576
- CLOVES syndrome ORPHA:140944
- Familial multiple lipomatosis ORPHA:199276
- Familial angiolipomatosis ORPHA:199279
- Alacrimia-choreoathetosis-liver dysfunction syndrome ORPHA:404454
- Isolated generalized anhidrosis with normal sweat glands ORPHA:468666
- Genetic photodermatosis ORPHA:183490
- Xeroderma pigmentosum variant ORPHA:90342
- Bloom syndrome ORPHA:125
- Hartnup disease ORPHA:2116
- Porphyria ORPHA:738
- Erythropoietic porphyria ORPHA:659681
- Congenital erythropoietic porphyria ORPHA:79277
- Autosomal erythropoietic protoporphyria ORPHA:79278
- X-linked erythropoietic protoporphyria ORPHA:443197
- Erythropoietic uroporphyria associated with myeloid malignancy ORPHA:280379
- Hepatoerythropoietic porphyria ORPHA:95159
- Harderoporphyria ORPHA:659672
- Hepatic porphyria ORPHA:659694
- Rothmund-Thomson syndrome ORPHA:2909
- Xeroderma pigmentosum ORPHA:910
- UV-sensitive syndrome ORPHA:178338
- Xeroderma pigmentosum-Cockayne syndrome complex ORPHA:220295
- Kindler epidermolysis bullosa ORPHA:2908
- Genetic immune deficiency with skin involvement ORPHA:183494
- Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome ORPHA:568056
- Wiskott-Aldrich syndrome ORPHA:906
- Chronic granulomatous disease ORPHA:379
- Chédiak-Higashi syndrome ORPHA:167
- Chronic mucocutaneous candidiasis ORPHA:1334
- Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency ORPHA:2314
- Hereditary mucoepithelial dysplasia ORPHA:1839
- Inherited epidermodysplasia verruciformis ORPHA:302
- Erythroderma desquamativum ORPHA:314
- Griscelli syndrome type 2 ORPHA:79477
- Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome ORPHA:83617
- Combined immunodeficiency with granulomatosis ORPHA:157949
- WHIM syndrome ORPHA:51636
- Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency ORPHA:641368
- Autosomal dominant combined immunodeficiency due to ERBIN deficiency ORPHA:656912
- Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency ORPHA:656300
- Autosomal recessive combined immunodeficiency due to IL6R deficiency ORPHA:656326
- Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency ORPHA:658946
- Combined immunodeficiency due to RELA haploinsufficiency ORPHA:596759
- Genetic urticaria ORPHA:182734
- Rare inborn errors of metabolism ORPHA:68367
- Congenital disorder of glycosylation ORPHA:137
- Disorder of protein N-glycosylation ORPHA:309347
- PMM2-CDG ORPHA:79318
- MPI-CDG ORPHA:79319
- ALG6-CDG ORPHA:79320
- ALG3-CDG ORPHA:79321
- ALG12-CDG ORPHA:79324
- ALG8-CDG ORPHA:79325
- ALG2-CDG ORPHA:79326
- ALG1-CDG ORPHA:79327
- ALG9-CDG ORPHA:79328
- MGAT2-CDG ORPHA:79329
- MOGS-CDG ORPHA:79330
- DPAGT1-CDG ORPHA:86309
- RFT1-CDG ORPHA:244310
- ALG11-CDG ORPHA:280071
- DDOST-CDG ORPHA:300536
- TMEM165-CDG ORPHA:314667
- PGM1-CDG ORPHA:319646
- ALG13-CDG ORPHA:324422
- Congenital myasthenic syndromes with glycosylation defect ORPHA:353327
- STT3A-CDG ORPHA:370921
- STT3B-CDG ORPHA:370924
- SSR4-CDG ORPHA:370927
- Autism spectrum disorder-epilepsy-arthrogryposis syndrome ORPHA:370943
- MAN1B1-CDG ORPHA:397941
- SLC39A8-CDG ORPHA:468699
- Disorder of protein O-glycosylation ORPHA:309447
- Disorder of O-xylosylglycan synthesis ORPHA:309450
- Seizures-scoliosis-macrocephaly syndrome ORPHA:466926
- POGLUT1-related limb-girdle muscular dystrophy R21 ORPHA:480682
- Multiple osteochondromas ORPHA:321
- Musculocontractural Ehlers-Danlos syndrome ORPHA:2953
- B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome ORPHA:75496
- CHST3-related skeletal dysplasia ORPHA:263463
- Larsen-like syndrome, B3GAT3 type ORPHA:284139
- Temtamy preaxial brachydactyly syndrome ORPHA:363417
- XYLT1-CDG ORPHA:370930
- B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome ORPHA:536467
- Disorder of O-N-acetylgalactosaminylglycan synthesis ORPHA:309458
- Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis ORPHA:309463
- Disorder of O-mannosylglycan synthesis ORPHA:309469
- Congenital muscular dystrophy, Fukuyama type ORPHA:272
- Walker-Warburg syndrome ORPHA:899
- Muscle-eye-brain disease ORPHA:588
- FKRP-related limb-girdle muscular dystrophy R9 ORPHA:34515
- POMT1-related limb-girdle muscular dystrophy R11 ORPHA:86812
- Fukutin-related limb-girdle muscular dystrophy R13 ORPHA:206554
- POMT2-related limb-girdle muscular dystrophy R14 ORPHA:206559
- POMGNT1-related limb-girdle muscular dystrophy R15 ORPHA:206564
- ISPD-related limb-girdle muscular dystrophy R20 ORPHA:352479
- GMPPB-related limb-girdle muscular dystrophy R19 ORPHA:363623
- Congenital muscular dystrophy with cerebellar involvement ORPHA:370959
- Congenital muscular dystrophy with intellectual disability ORPHA:370968
- Congenital muscular dystrophy without intellectual disability ORPHA:370980
- Limb-girdle muscular dystrophy due to POMK deficiency ORPHA:445110
- Disorder of fucoglycosan synthesis ORPHA:309505
- Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation ORPHA:309515
- Autosomal recessive spastic paraplegia type 67 ORPHA:401820
- Multiple congenital anomalies-hypotonia-seizures syndrome type 2 ORPHA:300496
- GM3 synthase deficiency ORPHA:370933
- Ferro-cerebro-cutaneous syndrome ORPHA:397922
- Paroxysmal nocturnal hemoglobinuria ORPHA:447
- CHIME syndrome ORPHA:3474
- Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency ORPHA:83639
- Hyperphosphatasia-intellectual disability syndrome ORPHA:247262
- Multiple congenital anomalies-hypotonia-seizures syndrome ORPHA:280633
- Early-onset epilepsy-intellectual disability-brain anomalies syndrome ORPHA:488635
- Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome ORPHA:369837
- Disorder of multiple glycosylation ORPHA:309526
- GNE myopathy ORPHA:602
- DPM1-CDG ORPHA:79322
- MPDU1-CDG ORPHA:79323
- B4GALT1-CDG ORPHA:79332
- DK1-CDG ORPHA:91131
- Congenital dyserythropoietic anemia type II ORPHA:98873
- Leukocyte adhesion deficiency type II ORPHA:99843
- SLC35A1-CDG ORPHA:238459
- DPM3-CDG ORPHA:263494
- Defect in conserved oligomeric Golgi complex ORPHA:309568
- COG6-CGD ORPHA:464443
- COG7-CDG ORPHA:79333
- COG8-CDG ORPHA:95428
- COG5-CDG ORPHA:263487
- COG4-CDG ORPHA:263501
- COG1-CDG ORPHA:263508
- COG2-CDG ORPHA:435934
- Defect in V-ATPase ORPHA:309778
- SRD5A3-CDG ORPHA:324737
- Congenital muscular dystrophy with intellectual disability and severe epilepsy ORPHA:329178
- SLC35A2-CDG ORPHA:356961
- PGM3-CDG ORPHA:443811
- CAD-CDG ORPHA:448010
- TMEM199-CDG ORPHA:466703
- ATP6AP1-CDG ORPHA:692790
- CCDC115-CDG ORPHA:468684
- Lysosomal disease ORPHA:68366
- Autosomal recessive spastic paraplegia type 48 ORPHA:306511
- Pycnodysostosis ORPHA:763
- Neuronal ceroid lipofuscinosis ORPHA:216
- Progressive epilepsy-intellectual disability syndrome, Finnish type ORPHA:1947
- CLN1 disease ORPHA:228329
- CLN2 disease ORPHA:228349
- CLN3 disease ORPHA:228346
- CLN4 disease ORPHA:228343
- CLN12 disease ORPHA:314632
- CLN11 disease ORPHA:314629
- CLN5 disease ORPHA:228360
- CLN6 disease ORPHA:228363
- CLN7 disease ORPHA:228366
- CLN8 disease ORPHA:228354
- CLN13 disease ORPHA:352709
- CLN10 disease ORPHA:228337
- Lysosomal acid phosphatase deficiency ORPHA:35121
- Disorder of lysosomal amino acid transport ORPHA:79207
- Cystinosis ORPHA:213
- Infantile nephropathic cystinosis ORPHA:411629
- Juvenile nephropathic cystinosis ORPHA:411634
- Ocular cystinosis ORPHA:411641
- Free sialic acid storage disease ORPHA:834
- Mucopolysaccharidosis ORPHA:79213
- Hyaluronidase deficiency ORPHA:67041
- Mucopolysaccharidosis type 6 ORPHA:583
- Mucopolysaccharidosis type 6, rapidly progressing ORPHA:276212
- Mucopolysaccharidosis type 6, slowly progressing ORPHA:276223
- Mucopolysaccharidosis type 7 ORPHA:584
- Mucopolysaccharidosis type 2 ORPHA:580
- Mucopolysaccharidosis type 2, severe form ORPHA:217085
- Mucopolysaccharidosis type 2, attenuated form ORPHA:217093
- Mucopolysaccharidosis type 1 ORPHA:579
- Mucopolysaccharidosis type 3 ORPHA:581
- Sanfilippo syndrome type A ORPHA:79269
- Sanfilippo syndrome type B ORPHA:79270
- Sanfilippo syndrome type C ORPHA:79271
- Sanfilippo syndrome type D ORPHA:79272
- Mucopolysaccharidosis type 4 ORPHA:582
- Mucopolysaccharidosis type 10 ORPHA:662216
- Sphingolipidosis ORPHA:79225
- Multiple sulfatase deficiency ORPHA:585
- Farber disease ORPHA:333
- Krabbe disease ORPHA:487
- Late-infantile/juvenile Krabbe disease ORPHA:206443
- Adult Krabbe disease ORPHA:206448
- Infantile Krabbe disease ORPHA:206436
- Fabry disease ORPHA:324
- Metachromatic leukodystrophy ORPHA:512
- Metachromatic leukodystrophy, late infantile form ORPHA:309256
- Metachromatic leukodystrophy, juvenile form ORPHA:309263
- Metachromatic leukodystrophy, adult form ORPHA:309271
- Gaucher disease ORPHA:355
- Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome ORPHA:2072
- Gaucher disease type 1 ORPHA:77259
- Gaucher disease type 2 ORPHA:77260
- Gaucher disease type 3 ORPHA:77261
- Fetal Gaucher disease ORPHA:85212
- Atypical Gaucher disease due to saposin C deficiency ORPHA:309252
- Lipid storage disease ORPHA:79204
- Niemann-Pick disease type C ORPHA:646
- Niemann-Pick disease type C, severe perinatal form ORPHA:216972
- Niemann-Pick disease type C, severe early infantile neurologic onset ORPHA:216975
- Niemann-Pick disease type C, late infantile neurologic onset ORPHA:216978
- Niemann-Pick disease type C, juvenile neurologic onset ORPHA:216981
- Niemann-Pick disease type C, adult neurologic onset ORPHA:216986
- Lysosomal acid lipase deficiency ORPHA:275761
- Encephalopathy due to prosaposin deficiency ORPHA:139406
- Gangliosidosis ORPHA:309144
- GM1 gangliosidosis ORPHA:354
- GM1 gangliosidosis type 1 ORPHA:79255
- GM1 gangliosidosis type 2 ORPHA:79256
- GM1 gangliosidosis type 3 ORPHA:79257
- GM2 gangliosidosis ORPHA:309152
- Sandhoff disease ORPHA:796
- Sandhoff disease, infantile form ORPHA:309155
- Sandhoff disease, juvenile form ORPHA:309162
- Sandhoff disease, adult form ORPHA:309169
- Tay-Sachs disease ORPHA:845
- Tay-Sachs disease, infantile form ORPHA:309178
- Tay-Sachs disease, juvenile form ORPHA:309185
- Tay-Sachs disease, adult form ORPHA:309192
- GM2 gangliosidosis, AB variant ORPHA:309246
- Autosomal recessive cerebellar ataxia with late-onset spasticity ORPHA:352641
- Acid sphingomyelinase deficiency ORPHA:618899
- Glycoproteinosis ORPHA:309279
- Mucolipidosis ORPHA:79212
- Oligosaccharidosis ORPHA:79215
- Alpha-mannosidosis ORPHA:61
- Aspartylglucosaminuria ORPHA:93
- Beta-mannosidosis ORPHA:118
- Fucosidosis ORPHA:349
- Galactosialidosis ORPHA:351
- Alpha-N-acetylgalactosaminidase deficiency ORPHA:3137
- Alpha-N-acetylgalactosaminidase deficiency type 1 ORPHA:79279
- Alpha-N-acetylgalactosaminidase deficiency type 2 ORPHA:79280
- Alpha-N-acetylgalactosaminidase deficiency type 3 ORPHA:79281
- Sialidosis ORPHA:309294
- Disorder of sialic acid metabolism ORPHA:309319
- Lysosomal glycogen storage disease ORPHA:309337
- Peroxisomal disease ORPHA:68373
- Peroxisome biogenesis disorder ORPHA:79189
- Zellweger syndrome ORPHA:912
- Neonatal adrenoleukodystrophy ORPHA:44
- Infantile Refsum disease ORPHA:772
- Disorder of peroxisomal alpha-, beta- and omega-oxidation ORPHA:309810
- Refsum disease ORPHA:773
- Acatalasemia ORPHA:926
- Glutaric acidemia type 3 ORPHA:35706
- Congenital bile acid synthesis defect type 4 ORPHA:79095
- Peroxisomal beta-oxidation disorder ORPHA:79188
- Peroxisomal acyl-CoA oxidase deficiency ORPHA:2971
- X-linked adrenoleukodystrophy ORPHA:43
- Bifunctional enzyme deficiency ORPHA:300
- Leukoencephalopathy-dystonia-motor neuropathy syndrome ORPHA:163684
- Primary hyperoxaluria type 1 ORPHA:93598
- CADDS ORPHA:369942
- Disorder of plasmalogens biosynthesis ORPHA:3276
- Rhizomelic chondrodysplasia punctata ORPHA:177
- Rhizomelic chondrodysplasia punctata type 3 ORPHA:309803
- Rhizomelic chondrodysplasia punctata type 1 ORPHA:309789
- Rhizomelic chondrodysplasia punctata type 2 ORPHA:309796
- Rhizomelic chondrodysplasia punctata type 5 ORPHA:468717
- Fatty acyl-CoA reductase 1 deficiency ORPHA:438178
- Autosomal recessive ataxia due to PEX16 deficiency ORPHA:642954
- Autosomal recessive ataxia due to PEX2 deficiency ORPHA:642965
- Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome ORPHA:95433
- Autosomal recessive ataxia due to PEX10 deficiency ORPHA:247815
- Disorder of amino acid and other organic acid metabolism ORPHA:79062
- Severe primary trimethylaminuria ORPHA:468726
- Disorder of amino acid absorption and transport ORPHA:79166
- Oculocerebrorenal syndrome of Lowe ORPHA:534
- Cystinuria ORPHA:214
- Dicarboxylic aminoaciduria ORPHA:2195
- Lysinuric protein intolerance ORPHA:470
- Blue diaper syndrome ORPHA:94086
- Hypotonia-cystinuria type 1 syndrome ORPHA:238517
- Hypotonia-cystinuria syndrome ORPHA:163690
- 2p21 microdeletion syndrome ORPHA:163693
- Atypical hypotonia-cystinuria syndrome ORPHA:238523
- Disorder of neutral amino acid transport ORPHA:308451
- Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome ORPHA:363429
- Disorder of urea cycle metabolism and ammonia detoxification ORPHA:79167
- Argininemia ORPHA:90
- Argininosuccinic aciduria ORPHA:23
- Carbamoyl-phosphate synthetase 1 deficiency ORPHA:147
- Citrullinemia ORPHA:187
- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome ORPHA:415
- Hyperammonemia due to N-acetylglutamate synthase deficiency ORPHA:927
- Hyperinsulinism-hyperammonemia syndrome ORPHA:35878
- Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency ORPHA:401948
- Ornithine transcarbamylase deficiency ORPHA:664
- Disorder of methionine cycle and sulfur amino acid metabolism ORPHA:79173
- Autosomal recessive extra-oral halitosis ORPHA:562538
- Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome ORPHA:619979
- Homocystinuria due to cystathionine beta-synthase deficiency ORPHA:394
- Encephalopathy due to sulfite oxidase deficiency ORPHA:833
- Isolated sulfite oxidase deficiency ORPHA:99731
- Sulfite oxidase deficiency due to molybdenum cofactor deficiency ORPHA:99732
- Cystathioninuria ORPHA:212
- Homocystinuria without methylmalonic aciduria ORPHA:622
- Methylcobalamin deficiency type cblE ORPHA:2169
- Methylcobalamin deficiency type cblG ORPHA:2170
- Methylcobalamin deficiency type cblDv1 ORPHA:308380
- S-adenosylhomocysteine hydrolase deficiency ORPHA:88618
- Methionine adenosyltransferase I/III deficiency ORPHA:168598
- Hypermethioninemia encephalopathy due to adenosine kinase deficiency ORPHA:289290
- Hypermethioninemia due to glycine N-methyltransferase deficiency ORPHA:289891
- Beta-mercaptolactate cysteine disulfiduria ORPHA:1035
- Disorder of histidine metabolism ORPHA:79181
- Histidinemia ORPHA:2157
- Urocanic aciduria ORPHA:210128
- Histidinuria-renal tubular defect syndrome ORPHA:2158
- Disorder of ornithine or proline metabolism ORPHA:79185
- Disorder of proline metabolism ORPHA:289866
- De Barsy syndrome ORPHA:2962
- Hyperprolinemia type 1 ORPHA:419
- Hyperprolinemia type 2 ORPHA:79101
- Autosomal recessive cutis laxa type 2 ORPHA:90350
- Disorder of ornithine metabolism ORPHA:289869
- Disorder of peptide metabolism ORPHA:79187
- Disorder of phenylalanin or tyrosine metabolism ORPHA:79190
- Disorder of phenylalanine metabolism ORPHA:284814
- Phenylketonuria ORPHA:716
- Mild phenylketonuria ORPHA:79253
- Classic phenylketonuria ORPHA:79254
- Mild hyperphenylalaninemia ORPHA:79651
- Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria ORPHA:293284
- Maternal phenylketonuria syndrome ORPHA:2209
- Disorder of tyrosine metabolism ORPHA:284818
- Disorder of serine or glycine metabolism ORPHA:79194
- Sarcosinemia ORPHA:3129
- Glycine encephalopathy ORPHA:407
- Neonatal glycine encephalopathy ORPHA:289857
- Infantile glycine encephalopathy ORPHA:289860
- Atypical glycine encephalopathy ORPHA:289863
- Neurometabolic disorder due to serine deficiency ORPHA:35705
- Neu-Laxova syndrome ORPHA:2671
- Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency ORPHA:583602
- Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency ORPHA:583607
- Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency ORPHA:583612
- Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome ORPHA:447997
- Serine biosynthesis pathway deficiency, infantile/juvenile form ORPHA:583595
- Dimethylglycine dehydrogenase deficiency ORPHA:243343
- Disorder of the gamma-glutamyl cycle ORPHA:79196
- Glutathione synthetase deficiency ORPHA:32
- Glutathione synthetase deficiency with 5-oxoprolinuria ORPHA:289846
- Glutathione synthetase deficiency without 5-oxoprolinuria ORPHA:289849
- 5-oxoprolinase deficiency ORPHA:33572
- Gamma-glutamyl transpeptidase deficiency ORPHA:33573
- Glutamate-cysteine ligase deficiency ORPHA:33574
- Disorder of branched-chain amino acid metabolism ORPHA:79197
- Maple syrup urine disease ORPHA:511
- Classic maple syrup urine disease ORPHA:268145
- Intermediate maple syrup urine disease ORPHA:268162
- Intermittent maple syrup urine disease ORPHA:268173
- Thiamine-responsive maple syrup urine disease ORPHA:268184
- Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency ORPHA:289307
- Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency ORPHA:308410
- Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency ORPHA:401948
- Disorder of tryptophan metabolism ORPHA:289829
- Disorder of lysine and hydroxylysine metabolism ORPHA:289832
- Hyperlysinemia ORPHA:2203
- Saccharopinuria ORPHA:3124
- 2-aminoadipic 2-oxoadipic aciduria ORPHA:79154
- Seizures-intellectual disability due to hydroxylysinuria syndrome ORPHA:79156
- Disorder of glutamine metabolism ORPHA:289841
- Spastic ataxia-dysarthria due to glutaminase deficiency ORPHA:557056
- Neonatal epileptic encephalopathy due to glutaminase deficiency ORPHA:557064
- Congenital brain dysgenesis due to glutamine synthetase deficiency ORPHA:71278
- Organic aciduria ORPHA:289899
- Cerebral organic aciduria ORPHA:79158
- Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency ORPHA:653880
- 2-hydroxyglutaric aciduria ORPHA:19
- L-2-hydroxyglutaric aciduria ORPHA:79314
- D-2-hydroxyglutaric aciduria ORPHA:79315
- D,L-2-hydroxyglutaric aciduria ORPHA:356978
- Glutaryl-CoA dehydrogenase deficiency ORPHA:25
- Aminoacylase deficiency ORPHA:308448
- HSD10 disease ORPHA:391417
- Classic organic aciduria ORPHA:79163
- Isovaleric acidemia ORPHA:33
- Multiple carboxylase deficiency ORPHA:148
- Methylmalonic acidemia with homocystinuria ORPHA:26
- Methylmalonic acidemia with homocystinuria, type cblC ORPHA:79282
- Methylmalonic acidemia with homocystinuria, type cblD ORPHA:79283
- Methylmalonic acidemia with homocystinuria type cblF ORPHA:79284
- Methylmalonic acidemia with homocystinuria, type cblJ ORPHA:369955
- Methylmalonic acidemia with homocystinuria, type cblX ORPHA:369962
- Beta-ketothiolase deficiency ORPHA:134
- 3-hydroxyisobutyric aciduria ORPHA:939
- 3-hydroxy-3-methylglutaric aciduria ORPHA:20
- 3-methylcrotonyl-CoA carboxylase deficiency ORPHA:6
- Propionic acidemia ORPHA:35
- 2-methylbutyryl-CoA dehydrogenase deficiency ORPHA:79157
- Isobutyryl-CoA dehydrogenase deficiency ORPHA:79159
- Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency ORPHA:88639
- Combined malonic and methylmalonic acidemia ORPHA:289504
- 3-methylglutaconic aciduria ORPHA:289902
- 3-methylglutaconic aciduria type 8 ORPHA:505208
- Barth syndrome ORPHA:111
- Dilated cardiomyopathy with ataxia ORPHA:66634
- 3-methylglutaconic aciduria type 1 ORPHA:67046
- 3-methylglutaconic aciduria type 3 ORPHA:67047
- 3-methylglutaconic aciduria type 4 ORPHA:67048
- MEGDEL syndrome ORPHA:352328
- 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome ORPHA:445038
- 3-methylglutaconic aciduria type 9 ORPHA:505216
- Methylmalonic acidemia without homocystinuria ORPHA:293355
- Vitamin B12-unresponsive methylmalonic acidemia ORPHA:27
- Vitamin B12-unresponsive methylmalonic acidemia type mut- ORPHA:79312
- Vitamin B12-unresponsive methylmalonic acidemia type mut0 ORPHA:289916
- Vitamin B12-responsive methylmalonic acidemia ORPHA:28
- Vitamin B12-responsive methylmalonic acidemia type cblA ORPHA:79310
- Vitamin B12-responsive methylmalonic acidemia type cblB ORPHA:79311
- Vitamin B12-responsive methylmalonic acidemia, type cblDv2 ORPHA:308442
- Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency ORPHA:308425
- Disorder of beta and omega amino acid metabolism ORPHA:308407
- Disorder of melanin metabolism ORPHA:352728
- Oculocutaneous albinism ORPHA:55
- Oculocutaneous albinism type 2 ORPHA:79432
- Oculocutaneous albinism type 3 ORPHA:79433
- Oculocutaneous albinism type 4 ORPHA:79435
- Oculocutaneous albinism type 1 ORPHA:352731
- Oculocutaneous albinism type 1A ORPHA:79431
- Oculocutaneous albinism type 1B ORPHA:79434
- Minimal pigment oculocutaneous albinism type 1 ORPHA:352734
- Temperature-sensitive oculocutaneous albinism type 1 ORPHA:352737
- Oculocutaneous albinism type 7 ORPHA:352745
- Oculocutaneous albinism type 5 ORPHA:370091
- Oculocutaneous albinism type 6 ORPHA:370097
- Oculocutaneous albinism type 8 ORPHA:597733
- Ocular albinism ORPHA:284804
- Disorder of asparagine metabolism ORPHA:391381
- Disorder of carbohydrate metabolism ORPHA:79161
- Gluconeogenesis disorder ORPHA:79177
- Fructose-1,6-bisphosphatase deficiency ORPHA:348
- Phosphoenolpyruvate carboxykinase deficiency ORPHA:2880
- Pyruvate carboxylase deficiency ORPHA:3008
- Pyruvate carboxylase deficiency, infantile type ORPHA:353308
- Pyruvate carboxylase deficiency, severe neonatal type ORPHA:353314
- Pyruvate carboxylase deficiency, benign type ORPHA:353320
- Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency ORPHA:401948
- Disorder of glycerol metabolism ORPHA:79179
- Glycogen storage disease ORPHA:79201
- Glycogen storage disease due to acid maltase deficiency ORPHA:365
- Glycogen storage disease due to acid maltase deficiency, infantile onset ORPHA:308552
- Glycogen storage disease due to acid maltase deficiency, late-onset ORPHA:420429
- Glycogen storage disease due to glycogen debranching enzyme deficiency ORPHA:366
- Glycogen storage disease due to glycogen branching enzyme deficiency ORPHA:367
- Adult polyglucosan body disease ORPHA:206583
- Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form ORPHA:308621
- Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form ORPHA:308638
- Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form ORPHA:308655
- Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form ORPHA:308670
- Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form ORPHA:308684
- Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form ORPHA:308698
- Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form ORPHA:308712
- Glycogen storage disease due to muscle glycogen phosphorylase deficiency ORPHA:368
- Glycogen storage disease due to liver glycogen phosphorylase deficiency ORPHA:369
- Glycogen storage disease due to muscle phosphofructokinase deficiency ORPHA:371
- Glycogen storage disease due to phosphorylase kinase deficiency ORPHA:370
- Glycogen storage disease due to muscle phosphorylase kinase deficiency ORPHA:715
- Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency ORPHA:79240
- Glycogen storage disease due to liver phosphorylase kinase deficiency ORPHA:264580
- Glycogen storage disease due to glucose-6-phosphatase deficiency ORPHA:364
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia ORPHA:79258
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib ORPHA:79259
- Glycogen storage disease due to aldolase A deficiency ORPHA:57
- Glycogen storage disease due to phosphoglycerate kinase 1 deficiency ORPHA:713
- Fanconi-Bickel syndrome ORPHA:2088
- Glycogen storage disease due to lactate dehydrogenase deficiency ORPHA:2364
- Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency ORPHA:284426
- Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency ORPHA:284435
- Danon disease ORPHA:34587
- Glycogen storage disease due to phosphoglycerate mutase deficiency ORPHA:97234
- Glycogen storage disease due to muscle beta-enolase deficiency ORPHA:99849
- Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency ORPHA:263297
- Glycogen storage disease due to glycogen synthase deficiency ORPHA:308520
- Glycogen storage disease due to hepatic glycogen synthase deficiency ORPHA:2089
- Glycogen storage disease due to muscle and heart glycogen synthase deficiency ORPHA:137625
- Polyglucosan body myopathy type 1 ORPHA:397937
- Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease ORPHA:439854
- PGM1-CDG ORPHA:319646
- Polyglucosan body myopathy type 2 ORPHA:456369
- Disorder of glycolysis ORPHA:308459
- Triose phosphate-isomerase deficiency ORPHA:868
- Hemolytic anemia due to glucophosphate isomerase deficiency ORPHA:712
- Congenital glucokinase-related hyperinsulinism ORPHA:79299
- Disorder of fructose metabolism ORPHA:308463
- Hereditary fructose intolerance ORPHA:469
- Fructose-1,6-bisphosphatase deficiency ORPHA:348
- Essential fructosuria ORPHA:2056
- Disorder of galactose metabolism ORPHA:308467
- Disorder of glyoxylate metabolism ORPHA:308998
- Disorder of carbohydrate absorption and transport ORPHA:309001
- Hereditary fructose intolerance ORPHA:469
- Congenital sucrase-isomaltase deficiency ORPHA:35122
- Congenital lactase deficiency ORPHA:53690
- Glucose transport disorder ORPHA:79178
- Fanconi-Bickel syndrome ORPHA:2088
- Glucose-galactose malabsorption ORPHA:35710
- Familial renal glucosuria ORPHA:69076
- Classic glucose transporter type 1 deficiency syndrome ORPHA:71277
- Chronic diarrhea due to glucoamylase deficiency ORPHA:103907
- Trehalase deficiency ORPHA:103909
- Exercise-induced hyperinsulinism ORPHA:165991
- Juvenile cataract-microcornea-renal glucosuria syndrome ORPHA:247794
- Disorders of pentose/polyol metabolism ORPHA:440701
- Disorder of energy metabolism ORPHA:79200
- Mitochondrial disease ORPHA:68380
- Mitochondrial oxidative phosphorylation disorder ORPHA:223713
- Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies ORPHA:2443
- Encephalopathy due to mitochondrial and peroxisomal fission defect ORPHA:527276
- DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect ORPHA:330050
- MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect ORPHA:485421
- Parkinsonism with polyneuropathy ORPHA:611237
- Leigh syndrome ORPHA:506
- Fatal infantile cytochrome C oxidase deficiency ORPHA:1561
- Coenzyme Q10 deficiency ORPHA:35656
- Ataxia-oculomotor apraxia type 1 ORPHA:1168
- Autosomal recessive ataxia due to ubiquinone deficiency ORPHA:139485
- Deafness-encephaloneuropathy-obesity-valvulopathy syndrome ORPHA:254898
- Familial steroid-resistant nephrotic syndrome with sensorineural deafness ORPHA:280406
- Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome ORPHA:319678
- Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ORPHA:457185
- COQ7-related distal hereditary motor neuropathy ORPHA:658778
- Mitochondrial disorder due to a defect in mitochondrial protein synthesis ORPHA:35696
- Mitochondrial myopathy and sideroblastic anemia ORPHA:2598
- Perrault syndrome ORPHA:2855
- Spastic paraplegia type 7 ORPHA:99013
- Spinocerebellar ataxia type 28 ORPHA:101109
- Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ORPHA:137681
- Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ORPHA:137898
- Hypotonia with lactic acidemia and hyperammonemia ORPHA:137908
- Pontocerebellar hypoplasia type 6 ORPHA:166073
- Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 ORPHA:168566
- Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins ORPHA:217371
- Severe X-linked mitochondrial encephalomyopathy ORPHA:238329
- Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome ORPHA:254343
- Combined oxidative phosphorylation defect type 2 ORPHA:254920
- Combined oxidative phosphorylation defect type 4 ORPHA:254925
- Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome ORPHA:314051
- Autosomal recessive spastic ataxia with leukoencephalopathy ORPHA:314603
- Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ORPHA:314637
- Combined oxidative phosphorylation defect type 8 ORPHA:319504
- Combined oxidative phosphorylation defect type 9 ORPHA:319509
- Combined oxidative phosphorylation defect type 13 ORPHA:319514
- Combined oxidative phosphorylation defect type 14 ORPHA:319519
- Combined oxidative phosphorylation defect type 15 ORPHA:319524
- Combined oxidative phosphorylation defect type 11 ORPHA:324535
- Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency ORPHA:352563
- Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ORPHA:363694
- Combined oxidative phosphorylation defect type 17 ORPHA:369913
- Combined oxidative phosphorylation defect type 20 ORPHA:420728
- Combined oxidative phosphorylation defect type 21 ORPHA:420733
- Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome ORPHA:436174
- Combined oxidative phosphorylation defect type 23 ORPHA:444013
- Combined oxidative phosphorylation defect type 24 ORPHA:444458
- Combined oxidative phosphorylation defect type 25 ORPHA:447954
- Combined oxidative phosphorylation defect type 39 ORPHA:565624
- Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome ORPHA:528091
- Syndromic sensorineural deafness due to combined oxidative phosphorylation defect ORPHA:457223
- Combined oxidative phosphorylation defect type 30 ORPHA:478042
- Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect ORPHA:466784
- Combined oxidative phosphorylation defect type 27 ORPHA:477774
- C12ORF65-related combined oxidative phosphorylation defect ORPHA:497623
- Combined oxidative phosphorylation defect type 7 ORPHA:254930
- Autosomal recessive spastic paraplegia type 55 ORPHA:320375
- Combined oxidative phosphorylation defect type 26 ORPHA:477684
- Autosomal recessive spastic paraplegia type 77 ORPHA:466722
- Combined oxidative phosphorylation defect type 29 ORPHA:478029
- QRSL1-related combined oxidative phosphorylation defect ORPHA:570491
- WARS2-related combined oxidative phosphorylation defect ORPHA:572798
- Pancreatic insufficiency-anemia-hyperostosis syndrome ORPHA:199337
- Mitochondrial oxidative phosphorylation disorder with no known mechanism ORPHA:254822
- Zellweger-like syndrome without peroxisomal anomalies ORPHA:50812
- Autosomal dominant optic atrophy and cataract ORPHA:67036
- Autosomal dominant optic atrophy, classic form ORPHA:98673
- FASTKD2-related infantile mitochondrial encephalomyopathy ORPHA:166105
- Autosomal recessive optic atrophy, OPA7 type ORPHA:227976
- Autosomal dominant optic atrophy and peripheral neuropathy ORPHA:250932
- Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome ORPHA:391348
- Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy ORPHA:436271
- Autosomal dominant mitochondrial myopathy with exercise intolerance ORPHA:457050
- Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes ORPHA:309136
- Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome ORPHA:543470
- TMEM70-related mitochondrial encephalo-cardio-myopathy ORPHA:1194
- Björnstad syndrome ORPHA:123
- GRACILE syndrome ORPHA:53693
- Exercise intolerance with lactic acidosis ORPHA:254843
- Hereditary myopathy with lactic acidosis due to ISCU deficiency ORPHA:43115
- Acyl-CoA dehydrogenase 9 deficiency ORPHA:99901
- Renal tubulopathy-encephalopathy-liver failure syndrome ORPHA:254902
- Multiple mitochondrial dysfunctions syndrome ORPHA:289573
- Multiple mitochondrial dysfunctions syndrome type 5 ORPHA:569274
- Multiple mitochondrial dysfunctions syndrome type 6 ORPHA:569290
- Multiple mitochondrial dysfunctions syndrome type 3 ORPHA:363424
- Multiple mitochondrial dysfunctions syndrome type 1 ORPHA:401869
- Multiple mitochondrial dysfunctions syndrome type 2 ORPHA:401874
- Multiple mitochondrial dysfunctions syndrome type 4 ORPHA:457406
- MEGDEL syndrome ORPHA:352328
- Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency ORPHA:397593
- Auditory neuropathy-optic atrophy syndrome ORPHA:542585
- Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome ORPHA:330054
- Mitochondrial DNA maintenance syndrome ORPHA:352456
- Mitochondrial neurogastrointestinal encephalomyopathy ORPHA:298
- Mitochondrial DNA depletion syndrome ORPHA:35698
- Mitochondrial DNA depletion syndrome, encephalomyopathic form ORPHA:254803
- Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ORPHA:1933
- Fatal infantile lactic acidosis with methylmalonic aciduria ORPHA:17
- Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy ORPHA:255235
- Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies ORPHA:369897
- Mitochondrial DNA depletion syndrome, hepatocerebral form ORPHA:254871
- Infantile-onset spinocerebellar ataxia ORPHA:1186
- Alpers-Huttenlocher syndrome ORPHA:726
- Navajo neurohepatopathy ORPHA:255229
- Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency ORPHA:279934
- Mitochondrial DNA depletion syndrome, hepatocerebrorenal form ORPHA:363534
- Mitochondrial DNA depletion syndrome, myopathic form ORPHA:254875
- Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome ORPHA:313772
- Multiple mitochondrial DNA deletion syndrome ORPHA:254807
- Autosomal dominant optic atrophy plus syndrome ORPHA:1215
- Ataxia neuropathy spectrum ORPHA:254818
- Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome ORPHA:70595
- Recessive mitochondrial ataxia syndrome ORPHA:94125
- Spinocerebellar ataxia with epilepsy ORPHA:254881
- Autosomal recessive progressive external ophthalmoplegia ORPHA:254886
- Autosomal dominant progressive external ophthalmoplegia ORPHA:254892
- Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency ORPHA:329314
- DNA2-related mitochondrial DNA deletion syndrome ORPHA:352470
- Progressive external ophthalmoplegia-myopathy-emaciation syndrome ORPHA:352447
- SURF1-related Charcot-Marie-Tooth disease type 4 ORPHA:391351
- Autosomal recessive intermediate Charcot-Marie-Tooth disease type D ORPHA:435998
- Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome ORPHA:478049
- Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type ORPHA:70472
- Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies ORPHA:254758
- Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA ORPHA:254767
- Kearns-Sayre syndrome ORPHA:480
- Pearson syndrome ORPHA:699
- Mitochondrial DNA-related progressive external ophthalmoplegia ORPHA:663
- Chronic diarrhea with villous atrophy ORPHA:1670
- Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy ORPHA:329336
- Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA ORPHA:254776
- MELAS ORPHA:550
- MERRF ORPHA:551
- Leber hereditary optic neuropathy ORPHA:104
- NARP syndrome ORPHA:644
- Rare mitochondrial non-syndromic sensorineural deafness ORPHA:90641
- Leber plus disease ORPHA:99718
- Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation ORPHA:620371
- Mitochondrial DNA-related mitochondrial myopathy ORPHA:254788
- Myopathy and diabetes mellitus ORPHA:2596
- Pure mitochondrial myopathy ORPHA:254854
- Lethal infantile mitochondrial myopathy ORPHA:254857
- Mitochondrial myopathy with reversible cytochrome C oxidase deficiency ORPHA:254864
- Mitochondrial DNA-related dystonia ORPHA:254851
- Mitochondrial DNA-associated Leigh syndrome ORPHA:255210
- Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation ORPHA:324525
- Periodic paralysis with later-onset distal motor neuropathy ORPHA:397750
- Mitochondrial DNA-related cardiomyopathy and hearing loss ORPHA:1349
- Isolated oxidative phosphorylation complex disorder ORPHA:254846
- Mitochondrial membrane transport disorder ORPHA:254827
- Mitochondrial substrate carrier disorder ORPHA:254830
- Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome ORPHA:1369
- Cardiomyopathy-hypotonia-lactic acidosis syndrome ORPHA:91130
- Adult-onset autosomal recessive sideroblastic anemia ORPHA:255132
- Epileptic encephalopathy with global cerebral demyelination ORPHA:353217
- Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect ORPHA:466784
- Mitochondrial protein import disorder ORPHA:254834
- Unspecified mitochondrial disorder ORPHA:254837
- Ocular anomalies-axonal neuropathy-developmental delay syndrome ORPHA:496790
- Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome ORPHA:502423
- 1p36.33 duplication syndrome ORPHA:656279
- X-linked sideroblastic anemia and spinocerebellar ataxia ORPHA:2802
- Ethylmalonic encephalopathy ORPHA:51188
- Autosomal dominant optic atrophy ORPHA:98672
- Autosomal dominant optic atrophy plus syndrome ORPHA:1215
- Autosomal dominant optic atrophy and cataract ORPHA:67036
- Autosomal dominant optic atrophy, classic form ORPHA:98673
- Autosomal dominant optic atrophy and peripheral neuropathy ORPHA:250932
- Histiocytoid cardiomyopathy ORPHA:137675
- Mitochondrial myopathy-lactic acidosis-deafness syndrome ORPHA:2597
- Lipoic acid biosynthesis defect ORPHA:401854
- Pyruvate dehydrogenase E3 deficiency ORPHA:2394
- Multiple mitochondrial dysfunctions syndrome ORPHA:289573
- Multiple mitochondrial dysfunctions syndrome type 5 ORPHA:569274
- Multiple mitochondrial dysfunctions syndrome type 6 ORPHA:569290
- Multiple mitochondrial dysfunctions syndrome type 3 ORPHA:363424
- Multiple mitochondrial dysfunctions syndrome type 1 ORPHA:401869
- Multiple mitochondrial dysfunctions syndrome type 2 ORPHA:401874
- Multiple mitochondrial dysfunctions syndrome type 4 ORPHA:457406
- Lipoic acid synthetase deficiency ORPHA:401859
- Lipoyl transferase 1 deficiency ORPHA:401862
- Childhood-onset spasticity with hyperglycinemia ORPHA:401866
- Lipoyl transferase 2 deficiency ORPHA:447795
- MEPAN syndrome ORPHA:508093
- Creatine deficiency syndrome ORPHA:79172
- Guanidinoacetate methyltransferase deficiency ORPHA:382
- L-Arginine:glycine amidinotransferase deficiency ORPHA:35704
- X-linked creatine transporter deficiency ORPHA:52503
- Disorder of fatty acid oxidation and ketone body metabolism ORPHA:79174
- Disorder of ketolysis ORPHA:79183
- Disorder of fatty acid oxidation and ketogenesis ORPHA:309115
- Mitochondrial trifunctional protein deficiency ORPHA:746
- 3-hydroxy-3-methylglutaric aciduria ORPHA:20
- 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ORPHA:35701
- Acyl-CoA dehydrogenase deficiency ORPHA:309120
- Medium chain acyl-CoA dehydrogenase deficiency ORPHA:42
- Multiple acyl-CoA dehydrogenase deficiency ORPHA:26791
- Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type ORPHA:394529
- Multiple acyl-CoA dehydrogenase deficiency, mild type ORPHA:394532
- Short chain acyl-CoA dehydrogenase deficiency ORPHA:26792
- Very long chain acyl-CoA dehydrogenase deficiency ORPHA:26793
- Transient neonatal multiple acyl-CoA dehydrogenase deficiency ORPHA:329942
- 3-hydroxyacyl-CoA dehydrogenase deficiency ORPHA:309127
- Disorder of carnitine cycle and carnitine transport ORPHA:309130
- Carnitine palmitoyltransferase II deficiency ORPHA:157
- Carnitine palmitoyl transferase II deficiency, myopathic form ORPHA:228302
- Carnitine palmitoyl transferase II deficiency, severe infantile form ORPHA:228305
- Carnitine palmitoyl transferase II deficiency, neonatal form ORPHA:228308
- Carnitine palmitoyl transferase 1A deficiency ORPHA:156
- Systemic primary carnitine deficiency ORPHA:158
- Carnitine-acylcarnitine translocase deficiency ORPHA:159
- Metabolic disease due to other fatty acid oxidation disorder ORPHA:309133
- Disorder of keton body transport ORPHA:438072
- Pyruvate metabolism disorder ORPHA:254746
- Pyruvate dehydrogenase deficiency ORPHA:765
- Pyruvate dehydrogenase E3 deficiency ORPHA:2394
- Pyruvate dehydrogenase E1-alpha deficiency ORPHA:79243
- Pyruvate dehydrogenase E2 deficiency ORPHA:79244
- Pyruvate dehydrogenase phosphatase deficiency ORPHA:79246
- Pyruvate dehydrogenase E1-beta deficiency ORPHA:255138
- Pyruvate dehydrogenase E3-binding protein deficiency ORPHA:255182
- Hemolytic anemia due to red cell pyruvate kinase deficiency ORPHA:766
- Mitochondrial pyruvate carrier deficiency ORPHA:447784
- Tricarboxylic acid cycle disorder ORPHA:254749
- Disorder of biogenic amine metabolism and transport ORPHA:79214
- Disorder of neurotransmitter metabolism and transport ORPHA:79169
- Monoamine oxidase A deficiency ORPHA:3057
- Disorder of pterin metabolism ORPHA:309819
- Dopa-responsive dystonia ORPHA:255
- Autosomal recessive dopa-responsive dystonia ORPHA:101150
- Dopa-responsive dystonia due to sepiapterin reductase deficiency ORPHA:70594
- Autosomal dominant dopa-responsive dystonia ORPHA:98808
- Hyperphenylalaninemia due to tetrahydrobiopterin deficiency ORPHA:238583
- Dihydropteridine reductase deficiency ORPHA:226
- 6-pyruvoyl-tetrahydropterin synthase deficiency ORPHA:13
- GTP cyclohydrolase I deficiency ORPHA:2102
- Pterin-4 alpha-carbinolamine dehydratase deficiency ORPHA:1578
- Hyperphenylalaninemia due to DNAJC12 deficiency ORPHA:508523
- Disorder of catecholamine synthesis ORPHA:309830
- Dopamine beta-hydroxylase deficiency ORPHA:230
- Aromatic L-amino acid decarboxylase deficiency ORPHA:35708
- Brain dopamine-serotonin vesicular transport disease ORPHA:352649
- Disorder of gamma-aminobutyric acid metabolism ORPHA:79175
- Succinic semialdehyde dehydrogenase deficiency ORPHA:22
- Gamma-aminobutyric acid transaminase deficiency ORPHA:2066
- Disorder of pyridoxine metabolism ORPHA:79192
- Pyridoxine-dependent-developmental and epileptic encephalopathy ORPHA:3006
- Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy ORPHA:79096
- Metabolic disease involving other neurotransmitter deficiency ORPHA:79219
- Disorder of purine or pyrimidine metabolism ORPHA:79224
- Disorder of purine metabolism ORPHA:79191
- Diamond-Blackfan anemia ORPHA:124
- Adenosine monophosphate deaminase deficiency ORPHA:45
- Purine nucleoside phosphorylase deficiency ORPHA:760
- Hereditary xanthinuria ORPHA:3467
- Adenylosuccinate lyase deficiency ORPHA:46
- Adenine phosphoribosyltransferase deficiency ORPHA:976
- Lethal ataxia with deafness and optic atrophy ORPHA:1187
- Phosphoribosylpyrophosphate synthetase superactivity ORPHA:3222
- Mild phosphoribosylpyrophosphate synthetase superactivity ORPHA:411536
- Severe phosphoribosylpyrophosphate synthetase superactivity ORPHA:411543
- Severe combined immunodeficiency due to adenosine deaminase deficiency ORPHA:277
- X-linked Charcot-Marie-Tooth disease type 5 ORPHA:99014
- Hemolytic anemia due to erythrocyte adenosine deaminase overproduction ORPHA:99138
- Hypoxanthine-guanine phosphoribosyltransferase deficiency ORPHA:206428
- Lesch-Nyhan syndrome ORPHA:510
- Hypoxanthine guanine phosphoribosyltransferase partial deficiency ORPHA:79233
- AICA-ribosiduria ORPHA:250977
- Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency ORPHA:279934
- X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency ORPHA:423479
- ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement ORPHA:457375
- PAICS deficiency ORPHA:633099
- Disorder of pyrimidine metabolism ORPHA:79193
- Hereditary orotic aciduria ORPHA:30
- Dihydropyrimidine dehydrogenase deficiency ORPHA:1675
- Mitochondrial neurogastrointestinal encephalomyopathy ORPHA:298
- Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency ORPHA:35120
- Dihydropyrimidinuria ORPHA:38874
- Beta-ureidopropionase deficiency ORPHA:65287
- Mitochondrial DNA depletion syndrome, myopathic form ORPHA:254875
- Hyper-beta-alaninemia ORPHA:309147
- CAD-CDG ORPHA:448010
- Other metabolic disease ORPHA:91088
- Congenital isolated hyperinsulinism ORPHA:657
- Diazoxide-sensitive diffuse hyperinsulinism ORPHA:165985
- Hyperinsulinism-hyperammonemia syndrome ORPHA:35878
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency ORPHA:71212
- Congenital glucokinase-related hyperinsulinism ORPHA:79299
- Exercise-induced hyperinsulinism ORPHA:165991
- Congenital hyperinsulinism due to HNF4A deficiency ORPHA:263455
- Hyperinsulinism due to UCP2 deficiency ORPHA:276556
- Autosomal dominant hyperinsulinism due to SUR1 deficiency ORPHA:276575
- Autosomal dominant hyperinsulinism due to Kir6.2 deficiency ORPHA:276580
- Hyperinsulinism due to HNF1A deficiency ORPHA:324575
- Diazoxide-resistant hyperinsulinism ORPHA:276585
- Alpha-1-antitrypsin deficiency ORPHA:60
- Hemolytic anemia due to diphosphoglycerate mutase deficiency ORPHA:714
- Brachytelephalangic chondrodysplasia punctata ORPHA:79345
- Hypotonia-failure to thrive-microcephaly syndrome ORPHA:79507
- Genetic recurrent myoglobinuria ORPHA:99845
- Autosomal dominant myoglobinuria ORPHA:99846
- Alacrimia-choreoathetosis-liver dysfunction syndrome ORPHA:404454
- NAD(P)HX dehydratase deficiency ORPHA:555402
- NAD(P)HX epimerase deficiency ORPHA:555407
- Disorder of lipid metabolism ORPHA:309005
- Sterol metabolism disorder ORPHA:79226
- Disorder of bile acid synthesis ORPHA:79168
- Bile acid synthesis defect with cholestasis and malabsorption ORPHA:163631
- Cerebrotendinous xanthomatosis ORPHA:909
- Congenital bile acid synthesis defect ORPHA:485631
- Congenital bile acid synthesis defect type 4 ORPHA:79095
- Congenital bile acid synthesis defect type 1 ORPHA:79301
- Congenital bile acid synthesis defect type 3 ORPHA:79302
- Congenital bile acid synthesis defect type 2 ORPHA:79303
- Familial hypercholanemia ORPHA:238475
- Bile acid CoA ligase deficiency and defective amidation ORPHA:276066
- Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency ORPHA:209902
- Sterol biosynthesis disorder ORPHA:79195
- Microcephaly-congenital cataract-psoriasiform dermatitis syndrome ORPHA:488168
- Greenberg dysplasia ORPHA:1426
- CHILD syndrome ORPHA:139
- Smith-Lemli-Opitz syndrome ORPHA:818
- Desmosterolosis ORPHA:35107
- X-linked dominant chondrodysplasia punctata ORPHA:35173
- Lathosterolosis ORPHA:46059
- Mevalonate kinase deficiency ORPHA:309025
- MEND syndrome ORPHA:401973
- CK syndrome ORPHA:251383
- Rare dyslipidemia ORPHA:101953
- Rare hyperlipidemia ORPHA:181422
- Dysbetalipoproteinemia ORPHA:412
- Familial Hyperalphalipoproteinemia ORPHA:181428
- Familial chylomicronemia syndrome ORPHA:444490
- Familial lipoprotein lipase deficiency ORPHA:309015
- Familial apolipoprotein C-II deficiency ORPHA:309020
- Familial lipase maturation factor 1 deficiency ORPHA:535453
- Familial GPIHBP1 deficiency ORPHA:535458
- Familial apolipoprotein A5 deficiency ORPHA:530849
- Hyperlipidemia due to hepatic triacylglycerol lipase deficiency ORPHA:140905
- Rare hypercholesterolemia ORPHA:477811
- Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency ORPHA:209902
- Homozygous familial hypercholesterolemia ORPHA:391665
- TMEM199-CDG ORPHA:466703
- CCDC115-CDG ORPHA:468684
- Chronic visceral acid sphingomyelinase deficiency ORPHA:77293
- Chronic neurovisceral acid sphingomyelinase deficiency ORPHA:618891
- Rare hypolipidemia ORPHA:181431
- Hypoalphalipoproteinemia ORPHA:31153
- Hypobetalipoproteinemia ORPHA:31154
- Rare syndromic dyslipidemia ORPHA:181437
- Disorder of lipid absorption and transport ORPHA:309028
- Pancreatic triacylglycerol lipase deficiency ORPHA:309031
- Pancreatic colipase deficiency ORPHA:309108
- Combined pancreatic lipase-colipase deficiency ORPHA:309111
- Disorder of phospholipids, sphingolipids and fatty acids biosynthesis ORPHA:352301
- Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement ORPHA:352306
- Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction ORPHA:506353
- Spastic paraparesis-cataracts-speech delay syndrome ORPHA:615938
- Sjögren-Larsson syndrome ORPHA:816
- Autosomal recessive spastic paraplegia type 39 ORPHA:139480
- Pantothenate kinase-associated neurodegeneration ORPHA:157850
- Classic pantothenate kinase-associated neurodegeneration ORPHA:216866
- Atypical pantothenate kinase-associated neurodegeneration ORPHA:216873
- PLA2G6-associated neurodegeneration ORPHA:329303
- Fatty acid hydroxylase-associated neurodegeneration ORPHA:329308
- MEGDEL syndrome ORPHA:352328
- Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome ORPHA:352333
- GM3 synthase deficiency ORPHA:370933
- Spinocerebellar ataxia type 38 ORPHA:423296
- Progressive myoclonic epilepsy type 8 ORPHA:424027
- Progressive encephalopathy with leukodystrophy due to DECR deficiency ORPHA:431361
- Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement ORPHA:352309
- Hereditary sensory and autonomic neuropathy type 1 ORPHA:36386
- Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome ORPHA:171848
- Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement ORPHA:352312
- Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome ORPHA:1369
- Barth syndrome ORPHA:111
- Neutral lipid storage disease ORPHA:165
- Neutral lipid storage disease with ichthyosis ORPHA:98907
- Neutral lipid storage disease with myopathy ORPHA:98908
- Triglyceride deposit cardiomyovasculopathy ORPHA:692305
- Genetic recurrent myoglobinuria ORPHA:99845
- Megaconial congenital muscular dystrophy ORPHA:280671
- Familial steroid-resistant nephrotic syndrome with adrenal insufficiency ORPHA:506334
- Disorder of lysosomal-related organelles ORPHA:309340
- Chédiak-Higashi syndrome ORPHA:167
- Haim-Munk syndrome ORPHA:2342
- Papillon-Lefèvre syndrome ORPHA:678
- Hermansky-Pudlak syndrome ORPHA:79430
- Hermansky-Pudlak syndrome due to AP-3 deficiency ORPHA:183678
- Hermansky-Pudlak syndrome due to AP3B1 deficiency ORPHA:664500
- Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency ORPHA:664511
- Hermansky-Pudlak syndrome due to BLOC-3 deficiency ORPHA:231500
- Hermansky-Pudlak syndrome due to BLOC-2 deficiency ORPHA:231512
- Hermansky-Pudlak syndrome due to BLOC-1 deficiency ORPHA:231531
- Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN ORPHA:675782
- Disorder of porphyrin and heme metabolism ORPHA:309813
- Porphyria ORPHA:738
- Erythropoietic porphyria ORPHA:659681
- Congenital erythropoietic porphyria ORPHA:79277
- Autosomal erythropoietic protoporphyria ORPHA:79278
- X-linked erythropoietic protoporphyria ORPHA:443197
- Erythropoietic uroporphyria associated with myeloid malignancy ORPHA:280379
- Hepatoerythropoietic porphyria ORPHA:95159
- Harderoporphyria ORPHA:659672
- Hepatic porphyria ORPHA:659694
- X-linked sideroblastic anemia ORPHA:75563
- Disorder of bilirubin metabolism and excretion ORPHA:309816
- Crigler-Najjar syndrome ORPHA:205
- Dubin-Johnson syndrome ORPHA:234
- Rotor syndrome ORPHA:3111
- Progressive familial intrahepatic cholestasis ORPHA:172
- Progressive familial intrahepatic cholestasis type 2 ORPHA:79304
- Progressive familial intrahepatic cholestasis type 3 ORPHA:79305
- Progressive familial intrahepatic cholestasis type 1 ORPHA:79306
- Progressive familial intrahepatic cholestasis type 4 ORPHA:480483
- MYO5B-related progressive familial intrahepatic cholestasis ORPHA:480491
- Progressive familial intrahepatic cholestasis type 5 ORPHA:480476
- Hereditary North American Indian childhood cirrhosis ORPHA:168583
- Arthrogryposis-renal dysfunction-cholestasis syndrome ORPHA:2697
- Benign recurrent intrahepatic cholestasis ORPHA:65682
- Heme oxygenase-1 deficiency ORPHA:562509
- Disorder of metabolite absorption and transport ORPHA:309824
- Disorder of vitamin and non-protein cofactor absorption and transport ORPHA:309827
- Disorder of cobalamin metabolism and transport ORPHA:79171
- Methylmalonic acidemia with homocystinuria ORPHA:26
- Methylmalonic acidemia with homocystinuria, type cblC ORPHA:79282
- Methylmalonic acidemia with homocystinuria, type cblD ORPHA:79283
- Methylmalonic acidemia with homocystinuria type cblF ORPHA:79284
- Methylmalonic acidemia with homocystinuria, type cblJ ORPHA:369955
- Methylmalonic acidemia with homocystinuria, type cblX ORPHA:369962
- Transcobalamin deficiency ORPHA:859
- Vitamin B12-responsive methylmalonic acidemia ORPHA:28
- Vitamin B12-responsive methylmalonic acidemia type cblA ORPHA:79310
- Vitamin B12-responsive methylmalonic acidemia type cblB ORPHA:79311
- Vitamin B12-responsive methylmalonic acidemia, type cblDv2 ORPHA:308442
- Transcobalamin I deficiency ORPHA:2967
- Congenital intrinsic factor deficiency ORPHA:332
- Homocystinuria without methylmalonic aciduria ORPHA:622
- Methylcobalamin deficiency type cblE ORPHA:2169
- Methylcobalamin deficiency type cblG ORPHA:2170
- Methylcobalamin deficiency type cblDv1 ORPHA:308380
- Imerslund-Gräsbeck syndrome ORPHA:35858
- Methylmalonic aciduria due to transcobalamin receptor defect ORPHA:280183
- Disorder of folate metabolism and transport ORPHA:285657
- Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency ORPHA:658813
- Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency ORPHA:661412
- MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome ORPHA:597874
- Homocystinuria due to methylene tetrahydrofolate reductase deficiency ORPHA:395
- Formiminoglutamic aciduria ORPHA:51208
- Hereditary folate malabsorption ORPHA:90045
- Neurodegenerative syndrome due to cerebral folate transport deficiency ORPHA:217382
- Constitutional megaloblastic anemia with severe neurologic disease ORPHA:319651
- Disorder of thiamine metabolism and transport ORPHA:298644
- Progressive polyneuropathy with bilateral striatal necrosis ORPHA:217396
- Thiamine-responsive megaloblastic anemia syndrome ORPHA:49827
- Biotin-thiamine-responsive basal ganglia disease ORPHA:65284
- Thiamine-responsive encephalopathy ORPHA:199348
- Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome ORPHA:263410
- Childhood encephalopathy due to thiamine pyrophosphokinase deficiency ORPHA:293955
- Amish lethal microcephaly ORPHA:99742
- Disorder of other vitamins and cofactors metabolism and transport ORPHA:309833
- Ataxia with vitamin E deficiency ORPHA:96
- Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy ORPHA:79096
- Biotinidase deficiency ORPHA:79241
- Hereditary combined deficiency of vitamin K-dependent clotting factors ORPHA:98434
- Sulfite oxidase deficiency due to molybdenum cofactor deficiency ORPHA:99732
- Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A ORPHA:308386
- Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B ORPHA:308393
- Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C ORPHA:308400
- Pantothenate kinase-associated neurodegeneration ORPHA:157850
- Classic pantothenate kinase-associated neurodegeneration ORPHA:216866
- Atypical pantothenate kinase-associated neurodegeneration ORPHA:216873
- Hereditary hypercarotenemia and vitamin A deficiency ORPHA:199285
- Progressive retinal dystrophy due to retinol transport defect ORPHA:352718
- Maternal riboflavin deficiency ORPHA:411712
- Disorder of mineral absorption and transport ORPHA:309836
- Disorder of copper metabolism ORPHA:309839
- Wilson disease ORPHA:905
- Menkes disease ORPHA:565
- Familial benign copper deficiency ORPHA:1551
- Occipital horn syndrome ORPHA:198
- MEDNIK syndrome ORPHA:171851
- X-linked distal spinal muscular atrophy type 3 ORPHA:139557
- Congenital cataract-hearing loss-severe developmental delay syndrome ORPHA:300313
- Aceruloplasminemia ORPHA:48818
- Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect ORPHA:521411
- Disorder of iron metabolism and transport ORPHA:309842
- Neonatal hemochromatosis ORPHA:446
- Congenital atransferrinemia ORPHA:1195
- Aceruloplasminemia ORPHA:48818
- Microcytic anemia with liver iron overload ORPHA:83642
- Dietary iron overload disease ORPHA:139507
- Neuroferritinopathy ORPHA:157846
- Rare hereditary hemochromatosis ORPHA:220489
- Symptomatic form of HFE-related hemochromatosis ORPHA:465508
- Non-HFE-related hemochromatosis ORPHA:648569
- TFR2-related hemochromatosis ORPHA:225123
- SLC40A1-related hemochromatosis ORPHA:647834
- HJV or HAMP-related hemochromatosis ORPHA:79230
- Digenic hemochromatosis ORPHA:648581
- FTH1-related iron overload ORPHA:247790
- L-ferritin deficiency ORPHA:440731
- Hereditary hyperferritinemia-cataract syndrome ORPHA:163
- Ferroportin disease ORPHA:648562
- Disorder of zinc metabolism and transport ORPHA:309845
- Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome ORPHA:505242
- Acrodermatitis enteropathica ORPHA:37
- Hyperzincemia and hypercalprotectinemia ORPHA:251523
- Disorder of magnesium transport ORPHA:309848
- Primary hypomagnesemia with secondary hypocalcemia ORPHA:30924
- Autosomal dominant primary hypomagnesemia with hypocalciuria ORPHA:34528
- Isolated autosomal dominant hypomagnesemia, Glaudemans type ORPHA:199326
- Primary hypomagnesemia-refractory seizures-intellectual disability syndrome ORPHA:564178
- Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome ORPHA:620363
- EGF-related primary hypomagnesemia with intellectual disability ORPHA:620368
- Primary hypomagnesemia with hypercalciuria and nephrocalcinosis ORPHA:306516
- Disorder of manganese transport ORPHA:309851
- Rare genetic neurological disorder ORPHA:71859
- Genetic neurological channelopathy of the central nervous system ORPHA:98743
- Neurological channelopathy of the central nervous system due to a genetic sodium channel defect ORPHA:98744
- Genetic epilepsy with febrile seizure plus ORPHA:36387
- Hypokalemic periodic paralysis ORPHA:681
- Infantile convulsions and choreoathetosis ORPHA:31709
- Epilepsy of infancy with migrating focal seizures ORPHA:293181
- Lennox-Gastaut syndrome ORPHA:2382
- Familial or sporadic hemiplegic migraine ORPHA:569
- Non-specific early-onset epileptic encephalopathy ORPHA:442835
- Early infantile developmental and epileptic encephalopathy ORPHA:1934
- Dravet syndrome ORPHA:33069
- Self-limited infantile epilepsy ORPHA:306
- Self-limited neonatal-infantile epilepsy ORPHA:140927
- Neurological channelopathy of the central nervous system due to a genetic calcium channel defect ORPHA:98745
- Childhood absence epilepsy ORPHA:64280
- Spinocerebellar ataxia type 42 ORPHA:458803
- Familial paroxysmal ataxia ORPHA:97
- Familial or sporadic hemiplegic migraine ORPHA:569
- Spinocerebellar ataxia type 6 ORPHA:98758
- Non-specific early-onset epileptic encephalopathy ORPHA:442835
- Neurological channelopathy of the central nervous system due to a genetic potassium channel defect ORPHA:98746
- Early infantile developmental and epileptic encephalopathy ORPHA:1934
- Self-limited infantile epilepsy ORPHA:306
- Birk-Barel syndrome ORPHA:166108
- Progressive myoclonic epilepsy type 7 ORPHA:435438
- Paroxysmal kinesigenic dyskinesia ORPHA:98809
- Spinocerebellar ataxia type 13 ORPHA:98768
- EAST syndrome ORPHA:199343
- KCNQ2-related developmental and epileptic encephalopathy ORPHA:439218
- Sleep-related hypermotor epilepsy ORPHA:98784
- Keppen-Lubinsky syndrome ORPHA:435628
- Self-limited neonatal epilepsy ORPHA:1949
- Spinocerebellar ataxia type 19/22 ORPHA:98772
- Non-specific early-onset epileptic encephalopathy ORPHA:442835
- Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome ORPHA:664438
- Self-limited neonatal-infantile epilepsy ORPHA:140927
- Episodic ataxia type 1 ORPHA:37612
- Generalized epilepsy-paroxysmal dyskinesia syndrome ORPHA:79137
- Neurological channelopathy of the central nervous system due to a genetic glycine receptor defect ORPHA:98747
- Neurological channelopathy of the central nervous system due to a genetic acetylcholine receptor defect ORPHA:98748
- Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect ORPHA:98749
- Juvenile myoclonic epilepsy ORPHA:307
- Non-specific early-onset epileptic encephalopathy ORPHA:442835
- Genetic epilepsy with febrile seizure plus ORPHA:36387
- Dravet syndrome ORPHA:33069
- Self-limited epilepsy with centrotemporal spikes ORPHA:1945
- Lennox-Gastaut syndrome ORPHA:2382
- Childhood absence epilepsy ORPHA:64280
- Neurological channelopathy of the central nervous system due to a genetic chloride channel defect ORPHA:538238
- Flynn-Aird syndrome ORPHA:2047
- Leukodystrophy ORPHA:68356
- Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome ORPHA:83629
- Multiple mitochondrial dysfunctions syndrome type 4 ORPHA:457406
- Dermatoleukodystrophy ORPHA:1659
- C11ORF73-related autosomal recessive hypomyelinating leukodystrophy ORPHA:495844
- VPS11-related autosomal recessive hypomyelinating leukodystrophy ORPHA:466934
- Alexander disease ORPHA:58
- Canavan disease ORPHA:141
- Krabbe disease ORPHA:487
- Late-infantile/juvenile Krabbe disease ORPHA:206443
- Adult Krabbe disease ORPHA:206448
- Infantile Krabbe disease ORPHA:206436
- Metachromatic leukodystrophy ORPHA:512
- Metachromatic leukodystrophy, late infantile form ORPHA:309256
- Metachromatic leukodystrophy, juvenile form ORPHA:309263
- Metachromatic leukodystrophy, adult form ORPHA:309271
- Refsum disease ORPHA:773
- Cerebrotendinous xanthomatosis ORPHA:909
- Pelizaeus-Merzbacher disease ORPHA:702
- Pelizaeus-Merzbacher disease, connatal form ORPHA:280210
- Pelizaeus-Merzbacher disease, classic form ORPHA:280219
- Pelizaeus-Merzbacher disease, transitional form ORPHA:280224
- Pelizaeus-Merzbacher disease in female carriers ORPHA:280229
- Null syndrome ORPHA:280234
- X-linked adrenoleukodystrophy ORPHA:43
- Aicardi-Goutières syndrome ORPHA:51
- Nasu-Hakola disease ORPHA:2770
- CACH syndrome ORPHA:135
- Ovarioleukodystrophy ORPHA:99853
- Cree leukoencephalopathy ORPHA:99854
- Congenital or early infantile CACH syndrome ORPHA:157713
- Late infantile CACH syndrome ORPHA:157716
- Juvenile or adult CACH syndrome ORPHA:157719
- Megalencephalic leukoencephalopathy with subcortical cysts ORPHA:2478
- Peroxisome biogenesis disorder ORPHA:79189
- Zellweger syndrome ORPHA:912
- Neonatal adrenoleukodystrophy ORPHA:44
- Infantile Refsum disease ORPHA:772
- Cystic leukoencephalopathy without megalencephaly ORPHA:85136
- Hypomyelination-congenital cataract syndrome ORPHA:85163
- Spastic paraplegia type 2 ORPHA:99015
- Adult-onset autosomal dominant leukodystrophy ORPHA:99027
- Ravine syndrome ORPHA:99852
- Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ORPHA:137898
- Hypomyelination with atrophy of basal ganglia and cerebellum ORPHA:139441
- Leukoencephalopathy with bilateral anterior temporal lobe cysts ORPHA:139444
- Progressive cavitating leukoencephalopathy ORPHA:139447
- Leukoencephalopathy-dystonia-motor neuropathy syndrome ORPHA:163684
- Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease ORPHA:163746
- Pelizaeus-Merzbacher-like disease ORPHA:280270
- Pelizaeus-Merzbacher-like disease due to GJC2 mutation ORPHA:280282
- Pelizaeus-Merzbacher-like disease due to HSPD1 mutation ORPHA:280288
- Pelizaeus-Merzbacher-like disease due to AIMP1 mutation ORPHA:280293
- 4H leukodystrophy ORPHA:289494
- Odontoleukodystrophy ORPHA:77295
- Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome ORPHA:88637
- Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome ORPHA:137639
- Tremor-ataxia-central hypomyelination syndrome ORPHA:447896
- Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome ORPHA:447893
- Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia ORPHA:313808
- Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome ORPHA:314051
- Hypomyelination with brain stem and spinal cord involvement and leg spasticity ORPHA:363412
- Leukoencephalopathy with mild cerebellar ataxia and white matter edema ORPHA:363540
- CADDS ORPHA:369942
- Progressive encephalopathy with leukodystrophy due to DECR deficiency ORPHA:431361
- Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy ORPHA:436271
- RARS-related autosomal recessive hypomyelinating leukodystrophy ORPHA:438114
- Ribose-5-P isomerase deficiency ORPHA:440706
- MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome ORPHA:597874
- Early-onset calcifying leukoencephalopathy-skeletal dysplasia ORPHA:556985
- Adult-onset progressive leukoencephalopathy-early-onset deafness ORPHA:652532
- Alkaline ceramidase 3 deficiency ORPHA:502444
- NKX6-2-related autosomal recessive hypomyelinating leukodystrophy ORPHA:527497
- Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome ORPHA:611207
- Hypomyelination of early myelinating structures ORPHA:599376
- Episodic memory defect leukoencephalopathy ORPHA:662229
- Neurometabolic disease ORPHA:68385
- Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate ORPHA:615964
- Mitochondrial DNA depletion syndrome, myopathic form ORPHA:254875
- Autosomal dominant progressive external ophthalmoplegia ORPHA:254892
- Autosomal recessive progressive external ophthalmoplegia ORPHA:254886
- Mitochondrial DNA-related progressive external ophthalmoplegia ORPHA:663
- Progressive external ophthalmoplegia-myopathy-emaciation syndrome ORPHA:352447
- Spastic paraparesis-cataracts-speech delay syndrome ORPHA:615938
- Alpha-mannosidosis ORPHA:61
- Aspartylglucosaminuria ORPHA:93
- Multiple sulfatase deficiency ORPHA:585
- Canavan disease ORPHA:141
- Farber disease ORPHA:333
- Krabbe disease ORPHA:487
- Late-infantile/juvenile Krabbe disease ORPHA:206443
- Adult Krabbe disease ORPHA:206448
- Infantile Krabbe disease ORPHA:206436
- Sialidosis type 1 ORPHA:812
- Friedreich ataxia ORPHA:95
- Kearns-Sayre syndrome ORPHA:480
- MELAS ORPHA:550
- MERRF ORPHA:551
- Metachromatic leukodystrophy ORPHA:512
- Metachromatic leukodystrophy, late infantile form ORPHA:309256
- Metachromatic leukodystrophy, juvenile form ORPHA:309263
- Metachromatic leukodystrophy, adult form ORPHA:309271
- Mucopolysaccharidosis type 2 ORPHA:580
- Mucopolysaccharidosis type 2, severe form ORPHA:217085
- Mucopolysaccharidosis type 2, attenuated form ORPHA:217093
- Mucopolysaccharidosis type 1 ORPHA:579
- Wilson disease ORPHA:905
- Ataxia with vitamin E deficiency ORPHA:96
- Homocystinuria due to cystathionine beta-synthase deficiency ORPHA:394
- NARP syndrome ORPHA:644
- Abetalipoproteinemia ORPHA:14
- Menkes disease ORPHA:565
- Triose phosphate-isomerase deficiency ORPHA:868
- Neurodegeneration with brain iron accumulation ORPHA:385
- Woodhouse-Sakati syndrome ORPHA:3464
- Aceruloplasminemia ORPHA:48818
- Neuroferritinopathy ORPHA:157846
- Pantothenate kinase-associated neurodegeneration ORPHA:157850
- Classic pantothenate kinase-associated neurodegeneration ORPHA:216866
- Atypical pantothenate kinase-associated neurodegeneration ORPHA:216873
- Mitochondrial membrane protein-associated neurodegeneration ORPHA:289560
- Kufor-Rakeb syndrome ORPHA:306674
- Beta-propeller protein-associated neurodegeneration ORPHA:329284
- PLA2G6-associated neurodegeneration ORPHA:329303
- Fatty acid hydroxylase-associated neurodegeneration ORPHA:329308
- COASY protein-associated neurodegeneration ORPHA:397725
- Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome ORPHA:496756
- Isolated complex I deficiency ORPHA:2609
- Refsum disease ORPHA:773
- Succinic semialdehyde dehydrogenase deficiency ORPHA:22
- Encephalopathy due to sulfite oxidase deficiency ORPHA:833
- Isolated sulfite oxidase deficiency ORPHA:99731
- Sulfite oxidase deficiency due to molybdenum cofactor deficiency ORPHA:99732
- Spastic ataxia-dysarthria due to glutaminase deficiency ORPHA:557056
- Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome ORPHA:544488
- NAD(P)HX dehydratase deficiency ORPHA:555402
- NAD(P)HX epimerase deficiency ORPHA:555407
- 1p36.33 duplication syndrome ORPHA:656279
- Disorder of pterin metabolism ORPHA:309819
- Dopa-responsive dystonia ORPHA:255
- Autosomal recessive dopa-responsive dystonia ORPHA:101150
- Dopa-responsive dystonia due to sepiapterin reductase deficiency ORPHA:70594
- Autosomal dominant dopa-responsive dystonia ORPHA:98808
- Hyperphenylalaninemia due to tetrahydrobiopterin deficiency ORPHA:238583
- Dihydropteridine reductase deficiency ORPHA:226
- 6-pyruvoyl-tetrahydropterin synthase deficiency ORPHA:13
- GTP cyclohydrolase I deficiency ORPHA:2102
- Pterin-4 alpha-carbinolamine dehydratase deficiency ORPHA:1578
- Hyperphenylalaninemia due to DNAJC12 deficiency ORPHA:508523
- Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome ORPHA:95433
- Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type ORPHA:70472
- Lipoyl transferase 2 deficiency ORPHA:447795
- Multiple mitochondrial dysfunctions syndrome ORPHA:289573
- Multiple mitochondrial dysfunctions syndrome type 5 ORPHA:569274
- Multiple mitochondrial dysfunctions syndrome type 6 ORPHA:569290
- Multiple mitochondrial dysfunctions syndrome type 3 ORPHA:363424
- Multiple mitochondrial dysfunctions syndrome type 1 ORPHA:401869
- Multiple mitochondrial dysfunctions syndrome type 2 ORPHA:401874
- Multiple mitochondrial dysfunctions syndrome type 4 ORPHA:457406
- Galactosialidosis ORPHA:351
- Hartnup disease ORPHA:2116
- Leigh syndrome ORPHA:506
- Free sialic acid storage disease ORPHA:834
- Free sialic acid storage disease, infantile form ORPHA:309324
- Intermediate severe Salla disease ORPHA:309331
- Salla disease ORPHA:309334
- Sjögren-Larsson syndrome ORPHA:816
- Cerebrotendinous xanthomatosis ORPHA:909
- Phenylketonuria ORPHA:716
- Mild phenylketonuria ORPHA:79253
- Classic phenylketonuria ORPHA:79254
- Mild hyperphenylalaninemia ORPHA:79651
- Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria ORPHA:293284
- GM1 gangliosidosis ORPHA:354
- GM1 gangliosidosis type 1 ORPHA:79255
- GM1 gangliosidosis type 2 ORPHA:79256
- GM1 gangliosidosis type 3 ORPHA:79257
- Neuronal ceroid lipofuscinosis ORPHA:216
- Progressive epilepsy-intellectual disability syndrome, Finnish type ORPHA:1947
- CLN1 disease ORPHA:228329
- CLN2 disease ORPHA:228349
- CLN3 disease ORPHA:228346
- CLN4 disease ORPHA:228343
- CLN12 disease ORPHA:314632
- CLN11 disease ORPHA:314629
- CLN5 disease ORPHA:228360
- CLN6 disease ORPHA:228363
- CLN7 disease ORPHA:228366
- CLN8 disease ORPHA:228354
- CLN13 disease ORPHA:352709
- CLN10 disease ORPHA:228337
- Mucopolysaccharidosis type 3 ORPHA:581
- Sanfilippo syndrome type A ORPHA:79269
- Sanfilippo syndrome type B ORPHA:79270
- Sanfilippo syndrome type C ORPHA:79271
- Sanfilippo syndrome type D ORPHA:79272
- Alpha-N-acetylgalactosaminidase deficiency ORPHA:3137
- Alpha-N-acetylgalactosaminidase deficiency type 1 ORPHA:79279
- Alpha-N-acetylgalactosaminidase deficiency type 2 ORPHA:79280
- Alpha-N-acetylgalactosaminidase deficiency type 3 ORPHA:79281
- X-linked adrenoleukodystrophy ORPHA:43
- Niemann-Pick disease type C ORPHA:646
- Niemann-Pick disease type C, severe perinatal form ORPHA:216972
- Niemann-Pick disease type C, severe early infantile neurologic onset ORPHA:216975
- Niemann-Pick disease type C, late infantile neurologic onset ORPHA:216978
- Niemann-Pick disease type C, juvenile neurologic onset ORPHA:216981
- Niemann-Pick disease type C, adult neurologic onset ORPHA:216986
- Pyridoxine-dependent-developmental and epileptic encephalopathy ORPHA:3006
- Oxoglutaric aciduria ORPHA:31
- Guanidinoacetate methyltransferase deficiency ORPHA:382
- Alpers-Huttenlocher syndrome ORPHA:726
- Choreoacanthocytosis ORPHA:2388
- De Barsy syndrome ORPHA:2962
- Monoamine oxidase A deficiency ORPHA:3057
- Hereditary hyperekplexia ORPHA:3197
- 2-hydroxyglutaric aciduria ORPHA:19
- L-2-hydroxyglutaric aciduria ORPHA:79314
- D-2-hydroxyglutaric aciduria ORPHA:79315
- D,L-2-hydroxyglutaric aciduria ORPHA:356978
- Homocystinuria without methylmalonic aciduria ORPHA:622
- Methylcobalamin deficiency type cblE ORPHA:2169
- Methylcobalamin deficiency type cblG ORPHA:2170
- Methylcobalamin deficiency type cblDv1 ORPHA:308380
- Fumaric aciduria ORPHA:24
- Glycine encephalopathy ORPHA:407
- Neonatal glycine encephalopathy ORPHA:289857
- Infantile glycine encephalopathy ORPHA:289860
- Atypical glycine encephalopathy ORPHA:289863
- Glutaryl-CoA dehydrogenase deficiency ORPHA:25
- Rhizomelic chondrodysplasia punctata ORPHA:177
- Rhizomelic chondrodysplasia punctata type 3 ORPHA:309803
- Rhizomelic chondrodysplasia punctata type 1 ORPHA:309789
- Rhizomelic chondrodysplasia punctata type 2 ORPHA:309796
- Rhizomelic chondrodysplasia punctata type 5 ORPHA:468717
- Gamma-aminobutyric acid transaminase deficiency ORPHA:2066
- Hyperprolinemia type 1 ORPHA:419
- Dopamine beta-hydroxylase deficiency ORPHA:230
- Tangier disease ORPHA:31150
- Coenzyme Q10 deficiency ORPHA:35656
- Ataxia-oculomotor apraxia type 1 ORPHA:1168
- Autosomal recessive ataxia due to ubiquinone deficiency ORPHA:139485
- Deafness-encephaloneuropathy-obesity-valvulopathy syndrome ORPHA:254898
- Familial steroid-resistant nephrotic syndrome with sensorineural deafness ORPHA:280406
- Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome ORPHA:319678
- Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ORPHA:457185
- COQ7-related distal hereditary motor neuropathy ORPHA:658778
- L-Arginine:glycine amidinotransferase deficiency ORPHA:35704
- Neurometabolic disorder due to serine deficiency ORPHA:35705
- Neu-Laxova syndrome ORPHA:2671
- Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency ORPHA:583602
- Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency ORPHA:583607
- Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency ORPHA:583612
- Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome ORPHA:447997
- Serine biosynthesis pathway deficiency, infantile/juvenile form ORPHA:583595
- Aromatic L-amino acid decarboxylase deficiency ORPHA:35708
- X-linked creatine transporter deficiency ORPHA:52503
- McLeod neuroacanthocytosis syndrome ORPHA:59306
- Biotin-thiamine-responsive basal ganglia disease ORPHA:65284
- Beta-ureidopropionase deficiency ORPHA:65287
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency ORPHA:71212
- Classic glucose transporter type 1 deficiency syndrome ORPHA:71277
- Congenital brain dysgenesis due to glutamine synthetase deficiency ORPHA:71278
- Gaucher disease type 2 ORPHA:77260
- Gaucher disease type 3 ORPHA:77261
- Infantile neurovisceral acid sphingomyelinase deficiency ORPHA:77292
- Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy ORPHA:79096
- Folinic acid-responsive seizures ORPHA:79097
- Hyperprolinemia type 2 ORPHA:79101
- Hydroxykynureninuria ORPHA:79155
- 2-methylbutyryl-CoA dehydrogenase deficiency ORPHA:79157
- Peroxisome biogenesis disorder ORPHA:79189
- Zellweger syndrome ORPHA:912
- Neonatal adrenoleukodystrophy ORPHA:44
- Infantile Refsum disease ORPHA:772
- Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency ORPHA:88639
- Aminoacylase 1 deficiency ORPHA:137754
- Encephalopathy due to prosaposin deficiency ORPHA:139406
- FASTKD2-related infantile mitochondrial encephalomyopathy ORPHA:166105
- Methionine adenosyltransferase I/III deficiency ORPHA:168598
- Hypoxanthine-guanine phosphoribosyltransferase deficiency ORPHA:206428
- Lesch-Nyhan syndrome ORPHA:510
- Hypoxanthine guanine phosphoribosyltransferase partial deficiency ORPHA:79233
- Urocanic aciduria ORPHA:210128
- Severe X-linked mitochondrial encephalomyopathy ORPHA:238329
- Mitochondrial DNA depletion syndrome, encephalomyopathic form ORPHA:254803
- Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ORPHA:1933
- Fatal infantile lactic acidosis with methylmalonic aciduria ORPHA:17
- Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy ORPHA:255235
- Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies ORPHA:369897
- Mitochondrial DNA-associated Leigh syndrome ORPHA:255210
- Hypermethioninemia encephalopathy due to adenosine kinase deficiency ORPHA:289290
- Congenital cataract-hearing loss-severe developmental delay syndrome ORPHA:300313
- GM2 gangliosidosis ORPHA:309152
- Sandhoff disease ORPHA:796
- Sandhoff disease, infantile form ORPHA:309155
- Sandhoff disease, juvenile form ORPHA:309162
- Sandhoff disease, adult form ORPHA:309169
- Tay-Sachs disease ORPHA:845
- Tay-Sachs disease, infantile form ORPHA:309178
- Tay-Sachs disease, juvenile form ORPHA:309185
- Tay-Sachs disease, adult form ORPHA:309192
- GM2 gangliosidosis, AB variant ORPHA:309246
- Infantile cerebellar-retinal degeneration ORPHA:313850
- Combined oxidative phosphorylation defect type 11 ORPHA:324535
- Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy ORPHA:329336
- Seizures-intellectual disability due to hydroxylysinuria syndrome ORPHA:79156
- MEGDEL syndrome ORPHA:352328
- Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome ORPHA:352333
- Prolidase deficiency ORPHA:742
- Mitochondrial DNA depletion syndrome, hepatocerebrorenal form ORPHA:363534
- CADDS ORPHA:369942
- Congenital disorder of glycosylation with neurological involvement ORPHA:371047
- COG6-CGD ORPHA:464443
- ATP6AP1-CDG ORPHA:692790
- POMGNT2-related limb-girdle muscular dystrophy R24 ORPHA:565899
- XYLT1-CDG ORPHA:370930
- Musculocontractural Ehlers-Danlos syndrome ORPHA:2953
- GNE myopathy ORPHA:602
- FKRP-related limb-girdle muscular dystrophy R9 ORPHA:34515
- ALG12-CDG ORPHA:79324
- B4GALT1-CDG ORPHA:79332
- Fukutin-related limb-girdle muscular dystrophy R13 ORPHA:206554
- POMGNT1-related limb-girdle muscular dystrophy R15 ORPHA:206564
- DPM3-CDG ORPHA:263494
- Progressive myoclonic epilepsy type 3 ORPHA:263516
- DDOST-CDG ORPHA:300536
- TMEM165-CDG ORPHA:314667
- Congenital myasthenic syndromes with glycosylation defect ORPHA:353327
- Congenital muscular dystrophy without intellectual disability ORPHA:370980
- Congenital disorder of glycosylation with epilepsy as a major feature ORPHA:371071
- DPM1-CDG ORPHA:79322
- MPDU1-CDG ORPHA:79323
- ALG2-CDG ORPHA:79326
- ALG1-CDG ORPHA:79327
- ALG9-CDG ORPHA:79328
- MOGS-CDG ORPHA:79330
- COG7-CDG ORPHA:79333
- Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency ORPHA:83639
- DPAGT1-CDG ORPHA:86309
- COG8-CDG ORPHA:95428
- Leukocyte adhesion deficiency type II ORPHA:99843
- SLC35A1-CDG ORPHA:238459
- RFT1-CDG ORPHA:244310
- COG4-CDG ORPHA:263501
- ALG11-CDG ORPHA:280071
- Multiple congenital anomalies-hypotonia-seizures syndrome ORPHA:280633
- Multiple congenital anomalies-hypotonia-seizures syndrome type 2 ORPHA:300496
- ALG13-CDG ORPHA:324422
- Congenital muscular dystrophy with intellectual disability and severe epilepsy ORPHA:329178
- SLC35A2-CDG ORPHA:356961
- Autosomal recessive cutis laxa type 2A ORPHA:357058
- STT3A-CDG ORPHA:370921
- STT3B-CDG ORPHA:370924
- SSR4-CDG ORPHA:370927
- GM3 synthase deficiency ORPHA:370933
- Autism spectrum disorder-epilepsy-arthrogryposis syndrome ORPHA:370943
- CHIME syndrome ORPHA:3474
- Congenital muscular dystrophy, Fukuyama type ORPHA:272
- Walker-Warburg syndrome ORPHA:899
- Muscle-eye-brain disease ORPHA:588
- PMM2-CDG ORPHA:79318
- ALG6-CDG ORPHA:79320
- ALG3-CDG ORPHA:79321
- Early-onset epilepsy-intellectual disability-brain anomalies syndrome ORPHA:488635
- Seizures-scoliosis-macrocephaly syndrome ORPHA:466926
- COG2-CDG ORPHA:435934
- Peters plus syndrome ORPHA:709
- ALG8-CDG ORPHA:79325
- MGAT2-CDG ORPHA:79329
- POMT1-related limb-girdle muscular dystrophy R11 ORPHA:86812
- POMT2-related limb-girdle muscular dystrophy R14 ORPHA:206559
- COG5-CDG ORPHA:263487
- COG1-CDG ORPHA:263508
- Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 ORPHA:280333
- SRD5A3-CDG ORPHA:324737
- ISPD-related limb-girdle muscular dystrophy R20 ORPHA:352479
- Temtamy preaxial brachydactyly syndrome ORPHA:363417
- GMPPB-related limb-girdle muscular dystrophy R19 ORPHA:363623
- Congenital muscular dystrophy with cerebellar involvement ORPHA:370959
- Congenital muscular dystrophy with intellectual disability ORPHA:370968
- MAN1B1-CDG ORPHA:397941
- Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome ORPHA:391348
- Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome ORPHA:391376
- HSD10 disease ORPHA:391417
- HSD10 disease, atypical type ORPHA:85295
- HSD10 disease, infantile type ORPHA:391428
- HSD10 disease, neonatal type ORPHA:391457
- Combined oxidative phosphorylation defect type 20 ORPHA:420728
- Combined oxidative phosphorylation defect type 21 ORPHA:420733
- X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency ORPHA:423479
- Progressive encephalopathy with leukodystrophy due to DECR deficiency ORPHA:431361
- Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy ORPHA:436271
- Fatty acyl-CoA reductase 1 deficiency ORPHA:438178
- Combined oxidative phosphorylation defect type 23 ORPHA:444013
- 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome ORPHA:445038
- Limb-girdle muscular dystrophy due to POMK deficiency ORPHA:445110
- Mitochondrial pyruvate carrier deficiency ORPHA:447784
- Autosomal recessive ataxia due to PEX2 deficiency ORPHA:642965
- 3-methylglutaconic aciduria type 8 ORPHA:505208
- 3-methylglutaconic aciduria type 9 ORPHA:505216
- MEPAN syndrome ORPHA:508093
- Combined oxidative phosphorylation defect type 27 ORPHA:477774
- Autosomal dominant mitochondrial myopathy with exercise intolerance ORPHA:457050
- ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement ORPHA:457375
- Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome ORPHA:478049
- C12ORF65-related combined oxidative phosphorylation defect ORPHA:497623
- Combined oxidative phosphorylation defect type 7 ORPHA:254930
- Autosomal recessive spastic paraplegia type 55 ORPHA:320375
- Alkaline ceramidase 3 deficiency ORPHA:502444
- Lipoic acid synthetase deficiency ORPHA:401859
- Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome ORPHA:436174
- Adenosine monophosphate deaminase deficiency ORPHA:45
- Autosomal recessive spastic paraplegia type 48 ORPHA:306511
- Autosomal recessive spastic paraplegia type 77 ORPHA:466722
- Progressive polyneuropathy with bilateral striatal necrosis ORPHA:217396
- Mucopolysaccharidosis type 10 ORPHA:662216
- Combined oxidative phosphorylation defect type 25 ORPHA:447954
- Polyglucosan body myopathy type 2 ORPHA:456369
- Polyglucosan body myopathy type 1 ORPHA:397937
- Childhood-onset spasticity with hyperglycinemia ORPHA:401866
- Combined oxidative phosphorylation defect type 30 ORPHA:478042
- Autosomal recessive ataxia due to PEX16 deficiency ORPHA:642954
- Autosomal recessive ataxia due to PEX10 deficiency ORPHA:247815
- Encephalopathy due to mitochondrial and peroxisomal fission defect ORPHA:527276
- DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect ORPHA:330050
- MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect ORPHA:485421
- Auditory neuropathy-optic atrophy syndrome ORPHA:542585
- Neonatal epileptic encephalopathy due to glutaminase deficiency ORPHA:557064
- Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome ORPHA:543470
- Combined oxidative phosphorylation defect type 39 ORPHA:565624
- MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome ORPHA:597874
- WARS2-related combined oxidative phosphorylation defect ORPHA:572798
- Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome ORPHA:619979
- Neurodegenerative syndrome due to cerebral folate transport deficiency ORPHA:217382
- Paroxysmal extreme pain disorder ORPHA:46348
- Athabaskan brainstem dysgenesis syndrome ORPHA:69739
- Genetic peripheral neuropathy ORPHA:98497
- Ataxia-oculomotor apraxia type 4 ORPHA:459033
- Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy ORPHA:166
- X-linked Charcot-Marie-Tooth disease ORPHA:64747
- X-linked Charcot-Marie-Tooth disease type 5 ORPHA:99014
- X-linked Charcot-Marie-Tooth disease type 1 ORPHA:101075
- X-linked Charcot-Marie-Tooth disease type 2 ORPHA:101076
- X-linked Charcot-Marie-Tooth disease type 3 ORPHA:101077
- X-linked Charcot-Marie-Tooth disease type 4 ORPHA:101078
- X-linked Charcot-Marie-Tooth disease type 6 ORPHA:352675
- Digital extensor muscle aplasia-polyneuropathy ORPHA:2926
- Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder ORPHA:431320
- Spastic paraplegia-optic atrophy-neuropathy syndrome ORPHA:320406
- Autosomal recessive spastic paraplegia type 57 ORPHA:431329
- Autosomal recessive spastic paraplegia type 74 ORPHA:468661
- Autosomal recessive spastic paraplegia type 55 ORPHA:320375
- Axonal hereditary motor and sensory neuropathy ORPHA:476109
- Autosomal recessive axonal hereditary motor and sensory neuropathy ORPHA:91024
- Autosomal recessive Charcot-Marie-Tooth disease type 2X ORPHA:466775
- Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome ORPHA:466794
- Charcot-Marie-Tooth disease type 2B2 ORPHA:101101
- Charcot-Marie-Tooth disease type 2H ORPHA:101102
- Charcot-Marie-Tooth disease type 2B5 ORPHA:228374
- Charcot-Marie-Tooth disease type 2P ORPHA:300319
- Autosomal recessive axonal neuropathy with neuromyotonia ORPHA:324442
- Charcot-Marie-Tooth disease type 2R ORPHA:397968
- Microcephaly-complex motor and sensory axonal neuropathy syndrome ORPHA:423894
- Charcot-Marie-Tooth disease type 2S ORPHA:443073
- DNAJB2-related Charcot-Marie-Tooth disease type 2 ORPHA:443950
- Severe early-onset axonal neuropathy due to MFN2 deficiency ORPHA:90118
- Hereditary motor and sensory neuropathy with acrodystrophy ORPHA:90119
- Charcot-Marie-Tooth disease type 2B1 ORPHA:98856
- Autosomal recessive Charcot-Marie-Tooth disease with hoarseness ORPHA:101097
- Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome ORPHA:457205
- Hereditary motor and sensory neuropathy type 6 ORPHA:90120
- Charcot-Marie-Tooth disease type 2T ORPHA:495274
- Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy ORPHA:538096
- Congenital axonal neuropathy with encephalopathy ORPHA:538101
- Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect ORPHA:521411
- Autosomal dominant hereditary axonal motor and sensory neuropathy ORPHA:140456
- Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome ORPHA:538574
- Autosomal dominant optic atrophy plus syndrome ORPHA:1215
- Autosomal dominant Charcot-Marie-Tooth disease type 2 ORPHA:64746
- Autosomal dominant Charcot-Marie-Tooth disease type 2B ORPHA:99936
- Autosomal dominant Charcot-Marie-Tooth disease type 2C ORPHA:99937
- Autosomal dominant Charcot-Marie-Tooth disease type 2D ORPHA:99938
- Autosomal dominant Charcot-Marie-Tooth disease type 2E ORPHA:99939
- Autosomal dominant Charcot-Marie-Tooth disease type 2F ORPHA:99940
- Autosomal dominant Charcot-Marie-Tooth disease type 2G ORPHA:99941
- Autosomal dominant Charcot-Marie-Tooth disease type 2I ORPHA:99942
- Autosomal dominant Charcot-Marie-Tooth disease type 2J ORPHA:99943
- Autosomal dominant Charcot-Marie-Tooth disease type 2K ORPHA:99944
- Autosomal dominant Charcot-Marie-Tooth disease type 2L ORPHA:99945
- Autosomal dominant Charcot-Marie-Tooth disease type 2A1 ORPHA:99946
- Autosomal dominant Charcot-Marie-Tooth disease type 2A2 ORPHA:99947
- Autosomal dominant Charcot-Marie-Tooth disease type 2N ORPHA:228174
- Autosomal dominant Charcot-Marie-Tooth disease type 2M ORPHA:228179
- Autosomal dominant Charcot-Marie-Tooth disease type 2O ORPHA:284232
- Charcot-Marie-Tooth disease type 2P ORPHA:300319
- Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation ORPHA:324611
- Autosomal dominant Charcot-Marie-Tooth disease type 2Q ORPHA:329258
- Autosomal dominant Charcot-Marie-Tooth disease type 2U ORPHA:397735
- Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons ORPHA:401964
- Autosomal dominant Charcot-Marie-Tooth disease type 2Y ORPHA:435387
- Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation ORPHA:435819
- Autosomal dominant Charcot-Marie-Tooth disease type 2V ORPHA:447964
- Autosomal dominant Charcot-Marie-Tooth disease type 2Z ORPHA:466768
- Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation ORPHA:487814
- Autosomal dominant Charcot-Marie-Tooth disease type 2W ORPHA:488333
- MME-related autosomal dominant Charcot Marie Tooth disease type 2 ORPHA:497757
- Autosomal dominant Charcot-Marie-Tooth disease type 2DD ORPHA:521414
- Hereditary motor and sensory neuropathy type 5 ORPHA:64751
- Hereditary motor and sensory neuropathy, Okinawa type ORPHA:90117
- Hereditary motor and sensory neuropathy type 6 ORPHA:90120
- Demyelinating hereditary motor and sensory neuropathy ORPHA:476116
- Autosomal dominant hereditary demyelinating motor and sensory neuropathy ORPHA:140453
- Hereditary neuropathy with liability to pressure palsies ORPHA:640
- Roussy-Lévy syndrome ORPHA:3115
- Charcot-Marie-Tooth disease type 1 ORPHA:65753
- Charcot-Marie-Tooth disease type 1E ORPHA:90658
- Charcot-Marie-Tooth disease type 1A ORPHA:101081
- Charcot-Marie-Tooth disease type 1B ORPHA:101082
- Charcot-Marie-Tooth disease type 1C ORPHA:101083
- Charcot-Marie-Tooth disease type 1D ORPHA:101084
- Charcot-Marie-Tooth disease type 1F ORPHA:101085
- Hereditary thermosensitive neuropathy ORPHA:84093
- Neuropathy with hearing impairment ORPHA:139512
- Autosomal dominant slowed nerve conduction velocity ORPHA:140481
- Mitchell Syndrome ORPHA:631248
- PMP2-related Charcot-Marie-Tooth disease type 1 ORPHA:476394
- Hereditary sensorimotor neuropathy with hyperelastic skin ORPHA:280598
- Dejerine-Sottas syndrome ORPHA:64748
- PMP22-RAI1 contiguous gene duplication syndrome ORPHA:477817
- Autosomal recessive hereditary demyelinating motor and sensory neuropathy ORPHA:140459
- Congenital cataracts-facial dysmorphism-neuropathy syndrome ORPHA:48431
- Charcot-Marie-Tooth disease type 4 ORPHA:64749
- Charcot-Marie-Tooth disease type 4A ORPHA:99948
- Charcot-Marie-Tooth disease type 4C ORPHA:99949
- Charcot-Marie-Tooth disease type 4D ORPHA:99950
- Charcot-Marie-Tooth disease type 4E ORPHA:99951
- Charcot-Marie-Tooth disease type 4F ORPHA:99952
- Charcot-Marie-Tooth disease type 4G ORPHA:99953
- Charcot-Marie-Tooth disease type 4H ORPHA:99954
- Charcot-Marie-Tooth disease type 4B1 ORPHA:99955
- Charcot-Marie-Tooth disease type 4B2 ORPHA:99956
- Charcot-Marie-Tooth disease type 4J ORPHA:139515
- Charcot-Marie-Tooth disease type 4B3 ORPHA:363981
- SURF1-related Charcot-Marie-Tooth disease type 4 ORPHA:391351
- Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome ORPHA:90103
- Dejerine-Sottas syndrome ORPHA:64748
- Polyendocrine-polyneuropathy syndrome ORPHA:453533
- Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome ORPHA:686999
- Infantile multisystem neurologic-endocrine-pancreatic disease ORPHA:456312
- Intermediate Charcot-Marie-Tooth disease ORPHA:476123
- Autosomal dominant intermediate Charcot-Marie-Tooth disease ORPHA:90114
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type E ORPHA:93114
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type A ORPHA:100043
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type B ORPHA:100044
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type C ORPHA:100045
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type D ORPHA:100046
- Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain ORPHA:324585
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type F ORPHA:352670
- Autosomal recessive intermediate Charcot-Marie-Tooth disease ORPHA:268337
- Autosomal recessive intermediate Charcot-Marie-Tooth disease type A ORPHA:217055
- Autosomal recessive intermediate Charcot-Marie-Tooth disease type B ORPHA:254334
- Autosomal recessive intermediate Charcot-Marie-Tooth disease type C ORPHA:369867
- Autosomal recessive intermediate Charcot-Marie-Tooth disease type D ORPHA:435998
- Giant axonal neuropathy ORPHA:643
- Familial recurrent peripheral facial palsy ORPHA:2809
- Infantile neuroaxonal dystrophy ORPHA:35069
- Distal hereditary motor neuropathy ORPHA:53739
- Autosomal dominant distal hereditary motor neuropathy ORPHA:140465
- Autosomal dominant congenital benign spinal muscular atrophy ORPHA:1216
- Autosomal dominant spastic paraplegia type 17 ORPHA:100998
- Distal hereditary motor neuropathy type 1 ORPHA:139518
- Distal hereditary motor neuropathy type 2 ORPHA:139525
- Distal hereditary motor neuropathy type 5 ORPHA:139536
- Distal hereditary motor neuropathy type 7 ORPHA:139589
- Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome ORPHA:397744
- Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome ORPHA:476093
- Autosomal recessive distal hereditary motor neuropathy ORPHA:140468
- Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome ORPHA:496756
- Spinal muscular atrophy with respiratory distress type 1 ORPHA:98920
- Distal spinal muscular atrophy type 3 ORPHA:139547
- Distal hereditary motor neuropathy, Jerash type ORPHA:139552
- Young adult-onset distal hereditary motor neuropathy ORPHA:314485
- COQ7-related distal hereditary motor neuropathy ORPHA:658778
- X-linked distal hereditary motor neuropathy ORPHA:404538
- Spinocerebellar ataxia with axonal neuropathy type 2 ORPHA:64753
- Spinocerebellar ataxia with axonal neuropathy type 1 ORPHA:94124
- Hereditary sensory and autonomic neuropathy ORPHA:140471
- X-linked hereditary sensory and autonomic neuropathy with deafness ORPHA:139583
- Autosomal dominant hereditary sensory and autonomic neuropathy ORPHA:140474
- Hereditary sensory and autonomic neuropathy type 1 ORPHA:36386
- Primary erythromelalgia ORPHA:90026
- Hereditary sensory and autonomic neuropathy type 1B ORPHA:139564
- Hereditary sensory and autonomic neuropathy type 7 ORPHA:391397
- PrP systemic amyloidosis ORPHA:397606
- Hereditary sensory neuropathy-deafness-dementia syndrome ORPHA:456318
- Congenital insensitivity to pain syndrome, Marsili type ORPHA:653728
- Autosomal recessive hereditary sensory and autonomic neuropathy ORPHA:140477
- Familial dysautonomia ORPHA:1764
- Hereditary sensory and autonomic neuropathy type 4 ORPHA:642
- Hereditary sensory and autonomic neuropathy type 2 ORPHA:970
- Hereditary sensory and autonomic neuropathy type 5 ORPHA:64752
- Congenital insensitivity to pain-anosmia-neuropathic arthropathy ORPHA:88642
- Hereditary sensory and autonomic neuropathy with deafness and global delay ORPHA:139573
- Mutilating hereditary sensory neuropathy with spastic paraplegia ORPHA:139578
- Hereditary sensory and autonomic neuropathy type 6 ORPHA:314381
- Cold-induced sweating syndrome-hyperthermia spectrum ORPHA:401993
- Crisponi syndrome ORPHA:1545
- Cold-induced sweating syndrome ORPHA:157820
- KLHL7-related Crisponi/cold-induced sweating-like syndrome ORPHA:603694
- KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome ORPHA:603684
- Hereditary sensory and autonomic neuropathy due to TECPR2 mutation ORPHA:320385
- Congenital insensitivity to pain syndrome, Marsili type ORPHA:653728
- Hereditary sensory and autonomic neuropathy type 8 ORPHA:478664
- Congenital insensitivity to pain with severe intellectual disability ORPHA:453510
- Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation ORPHA:217399
- Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease ORPHA:163746
- Primary CD59 deficiency ORPHA:169464
- Rare hereditary disease with peripheral neuropathy ORPHA:207015
- Chédiak-Higashi syndrome ORPHA:167
- Triple A syndrome ORPHA:869
- Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome ORPHA:171848
- Rare hereditary metabolic disease with peripheral neuropathy ORPHA:207018
- Beta-mannosidosis ORPHA:118
- Sandhoff disease ORPHA:796
- Sandhoff disease, infantile form ORPHA:309155
- Sandhoff disease, juvenile form ORPHA:309162
- Sandhoff disease, adult form ORPHA:309169
- Fabry disease ORPHA:324
- Metachromatic leukodystrophy ORPHA:512
- Metachromatic leukodystrophy, late infantile form ORPHA:309256
- Metachromatic leukodystrophy, juvenile form ORPHA:309263
- Metachromatic leukodystrophy, adult form ORPHA:309271
- Wilson disease ORPHA:905
- Ataxia with vitamin E deficiency ORPHA:96
- Abetalipoproteinemia ORPHA:14
- Refsum disease ORPHA:773
- Homocystinuria due to methylene tetrahydrofolate reductase deficiency ORPHA:395
- Cerebrotendinous xanthomatosis ORPHA:909
- Tay-Sachs disease ORPHA:845
- Tay-Sachs disease, infantile form ORPHA:309178
- Tay-Sachs disease, juvenile form ORPHA:309185
- Tay-Sachs disease, adult form ORPHA:309192
- Choreoacanthocytosis ORPHA:2388
- De Barsy syndrome ORPHA:2962
- Mitochondrial trifunctional protein deficiency ORPHA:746
- Gyrate atrophy of choroid and retina ORPHA:414
- Tyrosinemia type 1 ORPHA:882
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ORPHA:5
- Tangier disease ORPHA:31150
- Chronic visceral acid sphingomyelinase deficiency ORPHA:77293
- Congenital bile acid synthesis defect type 4 ORPHA:79095
- Peroxisome biogenesis disorder ORPHA:79189
- Zellweger syndrome ORPHA:912
- Neonatal adrenoleukodystrophy ORPHA:44
- Infantile Refsum disease ORPHA:772
- Biotinidase deficiency ORPHA:79241
- Methylmalonic acidemia with homocystinuria, type cblC ORPHA:79282
- Acute hepatic porphyria ORPHA:95157
- Hereditary coproporphyria ORPHA:79273
- Acute intermittent porphyria ORPHA:79276
- Variegate porphyria ORPHA:79473
- Porphyria due to ALA dehydratase deficiency ORPHA:100924
- Adrenomyeloneuropathy ORPHA:139399
- Adult polyglucosan body disease ORPHA:206583
- Mitochondrial disease with peripheral neuropathy ORPHA:225703
- Kearns-Sayre syndrome ORPHA:480
- MELAS ORPHA:550
- MERRF ORPHA:551
- NARP syndrome ORPHA:644
- Pyruvate dehydrogenase deficiency ORPHA:765
- Pyruvate dehydrogenase E3 deficiency ORPHA:2394
- Pyruvate dehydrogenase E1-alpha deficiency ORPHA:79243
- Pyruvate dehydrogenase E2 deficiency ORPHA:79244
- Pyruvate dehydrogenase phosphatase deficiency ORPHA:79246
- Pyruvate dehydrogenase E1-beta deficiency ORPHA:255138
- Pyruvate dehydrogenase E3-binding protein deficiency ORPHA:255182
- Leigh syndrome ORPHA:506
- Oxoglutaric aciduria ORPHA:31
- Alpers-Huttenlocher syndrome ORPHA:726
- Fumaric aciduria ORPHA:24
- Mitochondrial neurogastrointestinal encephalomyopathy ORPHA:298
- Coenzyme Q10 deficiency ORPHA:35656
- Ataxia-oculomotor apraxia type 1 ORPHA:1168
- Autosomal recessive ataxia due to ubiquinone deficiency ORPHA:139485
- Deafness-encephaloneuropathy-obesity-valvulopathy syndrome ORPHA:254898
- Familial steroid-resistant nephrotic syndrome with sensorineural deafness ORPHA:280406
- Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome ORPHA:319678
- Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ORPHA:457185
- COQ7-related distal hereditary motor neuropathy ORPHA:658778
- Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome ORPHA:70595
- MEHMO syndrome ORPHA:85282
- Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type ORPHA:70472
- Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome ORPHA:436174
- Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy ORPHA:436271
- Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome ORPHA:543470
- Parkinsonism with polyneuropathy ORPHA:611237
- Ocular anomalies-axonal neuropathy-developmental delay syndrome ORPHA:496790
- Encephalopathy due to mitochondrial and peroxisomal fission defect ORPHA:527276
- Rare hereditary systemic disease with peripheral neuropathy ORPHA:207021
- Tangier disease ORPHA:31150
- ATTRV30M amyloidosis ORPHA:85447
- AGel amyloidosis ORPHA:85448
- EMILIN-1-related connective tissue disease ORPHA:485418
- Rare hereditary neurologic disease with peripheral neuropathy ORPHA:207025
- Cerebellar ataxia with peripheral neuropathy ORPHA:207028
- Friedreich ataxia ORPHA:95
- Marinesco-Sjögren syndrome ORPHA:559
- Congenital cataracts-facial dysmorphism-neuropathy syndrome ORPHA:48431
- Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome ORPHA:504476
- Spinocerebellar ataxia type 46 ORPHA:589522
- CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome ORPHA:610573
- Behr syndrome ORPHA:1239
- Attenuated Chédiak-Higashi syndrome ORPHA:352723
- Congenital trigeminal anesthesia ORPHA:231013
- Hereditary sodium channelopathy-related small fibers neuropathy ORPHA:306577
- Familial episodic pain syndrome ORPHA:391384
- Genetic dementia ORPHA:158124
- HTRA1-related cerebral small vessel disease ORPHA:482072
- Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy ORPHA:199354
- HTRA1-related autosomal dominant cerebral small vessel disease ORPHA:482077
- Bilateral striopallidodentate calcinosis ORPHA:1980
- Metabolic disease with dementia ORPHA:98543
- Metachromatic leukodystrophy ORPHA:512
- Metachromatic leukodystrophy, late infantile form ORPHA:309256
- Metachromatic leukodystrophy, juvenile form ORPHA:309263
- Metachromatic leukodystrophy, adult form ORPHA:309271
- Cerebral lipidosis with dementia ORPHA:98544
- Sandhoff disease ORPHA:796
- Sandhoff disease, infantile form ORPHA:309155
- Sandhoff disease, juvenile form ORPHA:309162
- Sandhoff disease, adult form ORPHA:309169
- Cerebrotendinous xanthomatosis ORPHA:909
- Niemann-Pick disease type C ORPHA:646
- Niemann-Pick disease type C, severe perinatal form ORPHA:216972
- Niemann-Pick disease type C, severe early infantile neurologic onset ORPHA:216975
- Niemann-Pick disease type C, late infantile neurologic onset ORPHA:216978
- Niemann-Pick disease type C, juvenile neurologic onset ORPHA:216981
- Niemann-Pick disease type C, adult neurologic onset ORPHA:216986
- Tay-Sachs disease ORPHA:845
- Tay-Sachs disease, infantile form ORPHA:309178
- Tay-Sachs disease, juvenile form ORPHA:309185
- Tay-Sachs disease, adult form ORPHA:309192
- Gaucher disease type 1 ORPHA:77259
- Gaucher disease type 2 ORPHA:77260
- Adult Krabbe disease ORPHA:206448
- Gaucher disease type 3 ORPHA:77261
- Neuronal ceroid lipofuscinosis ORPHA:216
- Progressive epilepsy-intellectual disability syndrome, Finnish type ORPHA:1947
- CLN1 disease ORPHA:228329
- CLN2 disease ORPHA:228349
- CLN3 disease ORPHA:228346
- CLN4 disease ORPHA:228343
- CLN12 disease ORPHA:314632
- CLN11 disease ORPHA:314629
- CLN5 disease ORPHA:228360
- CLN6 disease ORPHA:228363
- CLN7 disease ORPHA:228366
- CLN8 disease ORPHA:228354
- CLN13 disease ORPHA:352709
- CLN10 disease ORPHA:228337
- X-linked adrenoleukodystrophy ORPHA:43
- Genetic neurodegenerative disease with dementia ORPHA:276058
- Neurodegeneration with brain iron accumulation ORPHA:385
- Woodhouse-Sakati syndrome ORPHA:3464
- Aceruloplasminemia ORPHA:48818
- Neuroferritinopathy ORPHA:157846
- Pantothenate kinase-associated neurodegeneration ORPHA:157850
- Classic pantothenate kinase-associated neurodegeneration ORPHA:216866
- Atypical pantothenate kinase-associated neurodegeneration ORPHA:216873
- Mitochondrial membrane protein-associated neurodegeneration ORPHA:289560
- Kufor-Rakeb syndrome ORPHA:306674
- Beta-propeller protein-associated neurodegeneration ORPHA:329284
- PLA2G6-associated neurodegeneration ORPHA:329303
- Fatty acid hydroxylase-associated neurodegeneration ORPHA:329308
- COASY protein-associated neurodegeneration ORPHA:397725
- Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome ORPHA:496756
- Huntington disease ORPHA:399
- Early-onset autosomal dominant Alzheimer disease ORPHA:1020
- Ataxia with dementia ORPHA:98538
- Early-onset ataxia with dementia ORPHA:98539
- Autosomal recessive cerebellar ataxia ORPHA:1172
- Autosomal recessive ataxia, Beauce type ORPHA:88644
- Autosomal recessive congenital cerebellar ataxia ORPHA:98095
- Autosomal recessive cerebelloparenchymal disorder type 3 ORPHA:1170
- Dysequilibrium syndrome ORPHA:1766
- CAMOS syndrome ORPHA:83472
- Cerebellar ataxia, Cayman type ORPHA:94122
- Joubert syndrome and related disorders ORPHA:140874
- Joubert syndrome with oculorenal defect ORPHA:2318
- Joubert syndrome ORPHA:475
- Joubert syndrome with hepatic defect ORPHA:1454
- Orofaciodigital syndrome type 6 ORPHA:2754
- Joubert syndrome with ocular defect ORPHA:220493
- Joubert syndrome with renal defect ORPHA:220497
- Joubert syndrome with Jeune asphyxiating thoracic dystrophy ORPHA:397715
- Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency ORPHA:453521
- Congenital cerebellar ataxia due to RNU12 mutation ORPHA:512260
- Autosomal recessive metabolic cerebellar ataxia ORPHA:98096
- Autosomal recessive ataxia due to PEX2 deficiency ORPHA:642965
- Ataxia with vitamin E deficiency ORPHA:96
- Abetalipoproteinemia ORPHA:14
- Refsum disease ORPHA:773
- Cerebrotendinous xanthomatosis ORPHA:909
- Infantile Refsum disease ORPHA:772
- Recessive mitochondrial ataxia syndrome ORPHA:94125
- Autosomal recessive ataxia due to PEX10 deficiency ORPHA:247815
- Autosomal recessive cerebellar ataxia with late-onset spasticity ORPHA:352641
- Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome ORPHA:363429
- Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency ORPHA:324262
- Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency ORPHA:363432
- Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome ORPHA:95433
- Autosomal recessive ataxia due to PEX16 deficiency ORPHA:642954
- Autosomal recessive cerebellar ataxia due to a DNA repair defect ORPHA:98097
- Ataxia-telangiectasia ORPHA:100
- Ataxia-oculomotor apraxia type 1 ORPHA:1168
- Spinocerebellar ataxia with axonal neuropathy type 2 ORPHA:64753
- Spinocerebellar ataxia with axonal neuropathy type 1 ORPHA:94124
- Xeroderma pigmentosum-Cockayne syndrome complex ORPHA:220295
- Ataxia-telangiectasia-like disorder ORPHA:251347
- Xeroderma pigmentosum ORPHA:910
- RIDDLE syndrome ORPHA:420741
- Autosomal recessive degenerative and progressive cerebellar ataxia ORPHA:98098
- Friedreich ataxia ORPHA:95
- Early-onset cerebellar ataxia with retained tendon reflexes ORPHA:1177
- Infantile-onset spinocerebellar ataxia ORPHA:1186
- Marinesco-Sjögren syndrome ORPHA:559
- Congenital cataracts-facial dysmorphism-neuropathy syndrome ORPHA:48431
- Posterior column ataxia-retinitis pigmentosa syndrome ORPHA:88628
- Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome ORPHA:496756
- Autosomal recessive syndromic cerebellar ataxia ORPHA:98099
- Ataxia-oculomotor apraxia type 4 ORPHA:459033
- Autosomal recessive cerebellar ataxia-movement disorder syndrome ORPHA:95434
- Autosomal recessive cerebellar ataxia-psychomotor delay syndrome ORPHA:284271
- Gemignani syndrome ORPHA:2074
- Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome ORPHA:504476
- Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome ORPHA:466794
- Autosomal recessive ataxia due to ubiquinone deficiency ORPHA:139485
- Adult-onset autosomal recessive cerebellar ataxia ORPHA:284289
- Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia ORPHA:284324
- Infantile-onset autosomal recessive nonprogressive cerebellar ataxia ORPHA:284332
- Spectrin-associated autosomal recessive cerebellar ataxia ORPHA:352403
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome ORPHA:404481
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency ORPHA:284282
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency ORPHA:404493
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency ORPHA:404499
- Autosomal recessive cerebellar ataxia due to STUB1 deficiency ORPHA:412057
- Late-onset ataxia with dementia ORPHA:98540
- Autosomal dominant cerebellar ataxia ORPHA:99
- Autosomal dominant cerebellar ataxia type I ORPHA:94145
- Spinocerebellar ataxia type 19/22 ORPHA:98772
- Spinocerebellar ataxia type 21 ORPHA:98773
- Spinocerebellar ataxia type 23 ORPHA:101108
- Spinocerebellar ataxia type 28 ORPHA:101109
- Spinocerebellar ataxia type 20 ORPHA:101110
- Spinocerebellar ataxia type 25 ORPHA:101111
- Spinocerebellar ataxia type 29 ORPHA:208513
- Spinocerebellar ataxia type 32 ORPHA:276183
- Spinocerebellar ataxia type 35 ORPHA:276193
- Spinocerebellar ataxia type 36 ORPHA:276198
- Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome ORPHA:314404
- Non-progressive cerebellar ataxia with intellectual disability ORPHA:314647
- Spinocerebellar ataxia type 37 ORPHA:363710
- Spinocerebellar ataxia type 40 ORPHA:423275
- Spinocerebellar ataxia type 34 ORPHA:1955
- Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome ORPHA:1171
- Spinocerebellar ataxia type 1 ORPHA:98755
- Spinocerebellar ataxia type 2 ORPHA:98756
- Spinocerebellar ataxia type 3 ORPHA:98757
- Machado-Joseph disease type 1 ORPHA:276238
- Machado-Joseph disease type 2 ORPHA:276241
- Machado-Joseph disease type 3 ORPHA:276244
- Spinocerebellar ataxia type 17 ORPHA:98759
- Spinocerebellar ataxia type 8 ORPHA:98760
- Spinocerebellar ataxia type 12 ORPHA:98762
- Spinocerebellar ataxia type 14 ORPHA:98763
- Spinocerebellar ataxia type 27A ORPHA:98764
- Spinocerebellar ataxia type 4 ORPHA:98765
- Spinocerebellar ataxia type 13 ORPHA:98768
- Spinocerebellar ataxia type 15/16 ORPHA:98769
- Spinocerebellar ataxia type 18 ORPHA:98771
- Spinocerebellar ataxia type 43 ORPHA:497764
- PUM1-associated developmental disability-ataxia-seizure syndrome ORPHA:589515
- Spinocerebellar ataxia type 46 ORPHA:589522
- Spinocerebellar ataxia type 48 ORPHA:631103
- Spinocerebellar ataxia type 27B ORPHA:675216
- Spinocerebellar ataxia type 49 ORPHA:631106
- Autosomal dominant cerebellar ataxia type III ORPHA:94148
- Spinocerebellar ataxia type 45 ORPHA:589527
- Spinocerebellar ataxia type 44 ORPHA:631095
- Spinocerebellar ataxia type 6 ORPHA:98758
- Spinocerebellar ataxia type 5 ORPHA:98766
- Spinocerebellar ataxia type 11 ORPHA:98767
- Spinocerebellar ataxia type 26 ORPHA:101112
- Spinocerebellar ataxia type 30 ORPHA:211017
- Spinocerebellar ataxia type 31 ORPHA:217012
- Spinocerebellar ataxia type 38 ORPHA:423296
- Spinocerebellar ataxia type 41 ORPHA:458798
- Spinocerebellar ataxia type 42 ORPHA:458803
- Autosomal dominant cerebellar ataxia type IV ORPHA:94149
- Autosomal dominant cerebellar ataxia type II ORPHA:208508
- PUM1-related cerebellar ataxia ORPHA:642747
- Juvenile Huntington disease ORPHA:248111
- Genetic frontotemporal degeneration with dementia ORPHA:276061
- Inclusion body myopathy with Paget disease of bone and frontotemporal dementia ORPHA:52430
- Progressive supranuclear palsy ORPHA:683
- Atypical progressive supranuclear palsy syndrome ORPHA:99750
- Progressive supranuclear palsy-predominant parkinsonism syndrome ORPHA:240085
- Progressive supranuclear palsy-pure akinesia with gait freezing syndrome ORPHA:240094
- Progressive supranuclear palsy-corticobasal syndrome ORPHA:240103
- Progressive supranuclear palsy-progressive non-fluent aphasia syndrome ORPHA:240112
- Classic progressive supranuclear palsy syndrome ORPHA:240071
- Frontotemporal dementia ORPHA:282
- Semantic dementia ORPHA:100069
- Progressive non-fluent aphasia ORPHA:100070
- Behavioral variant of frontotemporal dementia ORPHA:275864
- Frontotemporal dementia with motor neuron disease ORPHA:275872
- Huntington disease-like syndrome due to C9ORF72 expansions ORPHA:401901
- PRKAR1B-related neurodegenerative dementia with intermediate filaments ORPHA:412066
- ITM2B amyloidosis ORPHA:439254
- Hereditary late-onset Parkinson disease ORPHA:411602
- Nasu-Hakola disease ORPHA:2770
- Hereditary sensory neuropathy-deafness-dementia syndrome ORPHA:456318
- Inherited human prion disease ORPHA:280400
- Fatal familial insomnia ORPHA:466
- Huntington disease-like 1 ORPHA:157941
- Inherited Creutzfeldt-Jakob disease ORPHA:282166
- Gerstmann-Straussler-Scheinker syndrome ORPHA:356
- Familial Alzheimer-like prion disease ORPHA:280397
- PrP systemic amyloidosis ORPHA:397606
- Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia ORPHA:313808
- Neuroacanthocytosis ORPHA:263440
- Rare cerebrovascular dementia ORPHA:98549
- Cerebral Amyloid Angiopathy ORPHA:85458
- ABeta amyloidosis, Dutch type ORPHA:100006
- ACys amyloidosis ORPHA:100008
- ABetaL34V amyloidosis ORPHA:324703
- ABeta amyloidosis, Iowa type ORPHA:324708
- ABeta amyloidosis, Italian type ORPHA:324713
- ABetaA21G amyloidosis ORPHA:324718
- ABeta amyloidosis, Arctic type ORPHA:324723
- Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy ORPHA:136
- Cathepsin A-related arteriopathy-strokes-leukoencephalopathy ORPHA:575553
- Familial advanced sleep-phase syndrome ORPHA:164736
- Rare pervasive developmental disorder ORPHA:168778
- Rett syndrome ORPHA:778
- Atypical Rett syndrome ORPHA:3095
- Childhood disintegrative disorder ORPHA:168782
- Rare disease with autism ORPHA:180772
- Timothy syndrome ORPHA:65283
- Timothy syndrome type 1 ORPHA:595098
- Timothy syndrome type 2 ORPHA:595105
- Atypical Timothy syndrome ORPHA:595109
- Early-onset obesity-hyperphagia-severe developmental delay syndrome ORPHA:99704
- Fragile X syndrome ORPHA:908
- Smith-Magenis syndrome ORPHA:819
- Tuberous sclerosis complex ORPHA:805
- Adenylosuccinate lyase deficiency ORPHA:46
- Inverted duplicated chromosome 15 syndrome ORPHA:3306
- Macrocephaly-intellectual disability-autism syndrome ORPHA:210548
- 1p21.3 microdeletion syndrome ORPHA:293948
- Xq12-q13.3 duplication syndrome ORPHA:314389
- Developmental delay with autism spectrum disorder and gait instability ORPHA:329195
- Autism spectrum disorder due to AUTS2 deficiency ORPHA:352490
- Autism spectrum disorder-epilepsy-arthrogryposis syndrome ORPHA:370943
- Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract ORPHA:500545
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder ORPHA:589547
- Atypical autism ORPHA:199627
- NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance ORPHA:600663
- FOXG1 syndrome ORPHA:561854
- FOXG1 syndrome due to intragenic alteration ORPHA:598164
- FOXG1 syndrome due to 14q12 microdeletion ORPHA:261144
- CDKL5-deficiency disorder ORPHA:505652
- Brain calcification, Rajab type ORPHA:178506
- Genetic neuromuscular disease ORPHA:183497
- Genetic neuromuscular junction disease ORPHA:98495
- Genetic motor neuron disease ORPHA:98505
- Distal hereditary motor neuropathy ORPHA:53739
- Autosomal dominant distal hereditary motor neuropathy ORPHA:140465
- Autosomal dominant congenital benign spinal muscular atrophy ORPHA:1216
- Autosomal dominant spastic paraplegia type 17 ORPHA:100998
- Distal hereditary motor neuropathy type 1 ORPHA:139518
- Distal hereditary motor neuropathy type 2 ORPHA:139525
- Distal hereditary motor neuropathy type 5 ORPHA:139536
- Distal hereditary motor neuropathy type 7 ORPHA:139589
- Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome ORPHA:397744
- Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome ORPHA:476093
- Autosomal recessive distal hereditary motor neuropathy ORPHA:140468
- Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome ORPHA:496756
- Spinal muscular atrophy with respiratory distress type 1 ORPHA:98920
- Distal spinal muscular atrophy type 3 ORPHA:139547
- Distal hereditary motor neuropathy, Jerash type ORPHA:139552
- Young adult-onset distal hereditary motor neuropathy ORPHA:314485
- COQ7-related distal hereditary motor neuropathy ORPHA:658778
- X-linked distal hereditary motor neuropathy ORPHA:404538
- Neurogenic scapuloperoneal syndrome, Kaeser type ORPHA:85146
- Madras motor neuron disease ORPHA:137867
- Bulbospinal muscular atrophy ORPHA:206701
- Bulbospinal muscular atrophy of childhood ORPHA:206704
- Bulbospinal muscular atrophy of adult ORPHA:206707
- Generalized bulbospinal muscular atrophy ORPHA:206710
- Spinal atrophy-ophthalmoplegia-pyramidal syndrome ORPHA:1217
- Autosomal recessive lower motor neuron disease with childhood onset ORPHA:206580
- Spinal muscular atrophy associated with central nervous system anomaly ORPHA:207012
- Autosomal dominant proximal spinal muscular atrophy ORPHA:211037
- Autosomal dominant adult-onset proximal spinal muscular atrophy ORPHA:209335
- Lower motor neuron syndrome with late-adult onset ORPHA:276435
- Autosomal dominant childhood-onset proximal spinal muscular atrophy ORPHA:363447
- Juvenile primary lateral sclerosis ORPHA:247604
- Infantile-onset ascending hereditary spastic paralysis ORPHA:293168
- Juvenile amyotrophic lateral sclerosis ORPHA:300605
- Amyotrophic lateral sclerosis type 4 ORPHA:357043
- Scapuloperoneal spinal muscular atrophy ORPHA:431255
- Proximal spinal muscular atrophy ORPHA:70
- Proximal spinal muscular atrophy type 1 ORPHA:83330
- Proximal spinal muscular atrophy type 2 ORPHA:83418
- Proximal spinal muscular atrophy type 3 ORPHA:83419
- Proximal spinal muscular atrophy type 4 ORPHA:83420
- Prenatal-onset spinal muscular atrophy with congenital bone fractures ORPHA:486811
- Spinal muscular atrophy-progressive myoclonic epilepsy syndrome ORPHA:2590
- Genetic skeletal muscle disease ORPHA:206634
- Cyprus facial-neuromusculoskeletal syndrome ORPHA:2674
- Tel Hashomer camptodactyly syndrome ORPHA:3292
- Wieacker-Wolff syndrome ORPHA:3454
- Distal myopathy ORPHA:599
- Autosomal dominant distal myopathy ORPHA:206650
- Oculopharyngodistal myopathy ORPHA:98897
- Distal myopathy, Welander type ORPHA:603
- Tibial muscular dystrophy ORPHA:609
- Vocal cord and pharyngeal distal myopathy ORPHA:600
- Laing distal myopathy ORPHA:59135
- Distal myopathy with posterior leg and anterior hand involvement ORPHA:63273
- Desminopathy ORPHA:98909
- Distal myotilinopathy ORPHA:98911
- Late-onset distal myopathy, Markesbery-Griggs type ORPHA:98912
- Adult-onset distal myopathy due to VCP mutation ORPHA:329478
- Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome ORPHA:397744
- Alpha-B crystallin-related late-onset myopathy ORPHA:399058
- KLHL9-related early-onset distal myopathy ORPHA:399081
- Finnish upper limb-onset distal myopathy ORPHA:399086
- Distal myopathy, Tateyama type ORPHA:488650
- Autosomal recessive distal myopathy ORPHA:206653
- GNE myopathy ORPHA:602
- Miyoshi myopathy ORPHA:45448
- Distal myopathy with anterior tibial onset ORPHA:178400
- Distal anoctaminopathy ORPHA:399096
- Distal nebulin myopathy ORPHA:399103
- Oculopharyngodistal myopathy ORPHA:98897
- Asymptomatic hyperCKemia-myalgia-rhabdomyolysis syndrome ORPHA:689021
- Adenylosuccinate synthetase-like 1-related distal myopathy ORPHA:482601
- Vacuolar myopathy with sarcoplasmic reticulum protein aggregates ORPHA:88635
- Muscular dystrophy ORPHA:98473
- Congenital muscular dystrophy ORPHA:97242
- Laminin subunit alpha 2-related congenital muscular dystrophy ORPHA:258
- Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome ORPHA:1875
- Congenital muscular dystrophy with integrin alpha-7 deficiency ORPHA:34520
- Rigid spine syndrome ORPHA:97244
- Congenital muscular dystrophy type 1B ORPHA:98893
- Congenital muscular dystrophy due to LMNA mutation ORPHA:157973
- Congenital myopathy, Paradas type ORPHA:199329
- Megaconial congenital muscular dystrophy ORPHA:280671
- Autosomal recessive myogenic arthrogryposis multiplex congenita ORPHA:319332
- Congenital muscular dystrophy due to dystroglycanopathy ORPHA:370953
- DPM3-CDG ORPHA:263494
- Congenital muscular dystrophy with intellectual disability and severe epilepsy ORPHA:329178
- Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies ORPHA:352687
- Congenital muscular dystrophy, Fukuyama type ORPHA:272
- Walker-Warburg syndrome ORPHA:899
- Muscle-eye-brain disease ORPHA:588
- Muscle-eye-brain disease with bilateral multicystic leucodystrophy ORPHA:370997
- Congenital muscular dystrophy with cerebellar involvement ORPHA:370959
- Congenital muscular dystrophy with intellectual disability ORPHA:370968
- Congenital muscular dystrophy without intellectual disability ORPHA:370980
- Congenital muscular dystrophy with hyperlaxity ORPHA:371007
- Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome ORPHA:486815
- Collagen VI-related congenital muscular dystrophy ORPHA:646098
- Bethlem muscular dystrophy ORPHA:610
- Ullrich congenital muscular dystrophy ORPHA:75840
- Intermediate collagen VI-related muscular dystrophy ORPHA:646113
- Congenital muscular dystrophy-cataract-intellectual disability syndrome ORPHA:662184
- Myopathic Ehlers-Danlos syndrome ORPHA:536516
- Progressive muscular dystrophy ORPHA:206644
- Epidermolysis bullosa simplex with muscular dystrophy ORPHA:257
- Duchenne and Becker muscular dystrophy ORPHA:262
- Becker muscular dystrophy ORPHA:98895
- Duchenne muscular dystrophy ORPHA:98896
- Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers ORPHA:206546
- Emery-Dreifuss muscular dystrophy ORPHA:261
- Autosomal dominant Emery-Dreifuss muscular dystrophy ORPHA:98853
- Autosomal recessive Emery-Dreifuss muscular dystrophy ORPHA:98855
- X-linked Emery-Dreifuss muscular dystrophy ORPHA:98863
- Facioscapulohumeral dystrophy ORPHA:269
- Schwartz-Jampel syndrome ORPHA:800
- Bethlem muscular dystrophy ORPHA:610
- Oculopharyngeal muscular dystrophy ORPHA:270
- Limb-girdle muscular dystrophy ORPHA:263
- Autosomal dominant limb-girdle muscular dystrophy ORPHA:102014
- Calpain-3-related limb-girdle muscular dystrophy D4 ORPHA:565909
- DNAJB6-related limb-girdle muscular dystrophy D1 ORPHA:34516
- TNP03-related limb-girdle muscular dystrophy D2 ORPHA:55595
- HNRNPDL-related limb-girdle muscular dystrophy D3 ORPHA:55596
- Autosomal recessive limb-girdle muscular dystrophy ORPHA:102015
- Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 ORPHA:565837
- POGLUT1-related limb-girdle muscular dystrophy R21 ORPHA:480682
- Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 ORPHA:62
- Calpain-3-related limb-girdle muscular dystrophy R1 ORPHA:267
- TRIM32-related limb-girdle muscular dystrophy R8 ORPHA:1878
- Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 ORPHA:119
- Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 ORPHA:353
- Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 ORPHA:219
- Dysferlin-related limb-girdle muscular dystrophy R2 ORPHA:268
- Telethonin-related limb-girdle muscular dystrophy R7 ORPHA:34514
- FKRP-related limb-girdle muscular dystrophy R9 ORPHA:34515
- POMT1-related limb-girdle muscular dystrophy R11 ORPHA:86812
- Titin-related limb-girdle muscular dystrophy R10 ORPHA:140922
- Anoctamin-5-related limb-girdle muscular dystrophy R12 ORPHA:206549
- Fukutin-related limb-girdle muscular dystrophy R13 ORPHA:206554
- POMT2-related limb-girdle muscular dystrophy R14 ORPHA:206559
- POMGNT1-related limb-girdle muscular dystrophy R15 ORPHA:206564
- Plectin-related limb-girdle muscular dystrophy R17 ORPHA:254361
- Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 ORPHA:280333
- ISPD-related limb-girdle muscular dystrophy R20 ORPHA:352479
- GMPPB-related limb-girdle muscular dystrophy R19 ORPHA:363623
- TRAPPC11-related limb-girdle muscular dystrophy R18 ORPHA:369840
- TOR1AIP1-related limb-girdle muscular dystrophy ORPHA:424261
- Limb-girdle muscular dystrophy due to POMK deficiency ORPHA:445110
- BVES-related limb-girdle muscular dystrophy ORPHA:476084
- Autosomal recessive limb-girdle muscular dystrophy, type 28 ORPHA:653725
- POMGNT2-related limb-girdle muscular dystrophy R24 ORPHA:565899
- X-linked myopathy with excessive autophagy ORPHA:25980
- Congenital fibrosis of extraocular muscles ORPHA:45358
- Oculopharyngodistal myopathy ORPHA:98897
- X-linked myopathy with postural muscle atrophy ORPHA:178461
- Hereditary myopathy with early respiratory failure ORPHA:178464
- Myotonic dystrophy ORPHA:206647
- Steinert myotonic dystrophy ORPHA:273
- Childhood-onset Steinert myotonic dystrophy ORPHA:589824
- Juvenile-onset Steinert myotonic dystrophy ORPHA:589827
- Adult-onset Steinert myotonic dystrophy ORPHA:589830
- Late-onset Steinert myotonic dystrophy ORPHA:589833
- Congenital-onset Steinert myotonic dystrophy ORPHA:589821
- Proximal myotonic myopathy ORPHA:606
- Late-onset scapuloperoneal muscular dystrophy with hyaline bodies ORPHA:431263
- Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome ORPHA:466921
- Progressive scapulohumeroperoneal distal myopathy ORPHA:447977
- Non-dystrophic myopathy ORPHA:206656
- Proximal myopathy with focal depletion of mitochondria ORPHA:521305
- Myofibrillar myopathy ORPHA:593
- Desminopathy ORPHA:98909
- Alpha-crystallinopathy ORPHA:98910
- Fatal infantile hypertonic myofibrillar myopathy ORPHA:280553
- Alpha-B crystallin-related late-onset myopathy ORPHA:399058
- Myotilinopathy ORPHA:209224
- Autosomal dominant limb-girdle muscular dystrophy type 1A ORPHA:266
- Distal myotilinopathy ORPHA:98911
- Spheroid body myopathy ORPHA:268129
- Late-onset distal myopathy, Markesbery-Griggs type ORPHA:98912
- Muscle filaminopathy ORPHA:171445
- Muscular dystrophy, Selcen type ORPHA:199340
- Hypercontractile muscle stiffness syndrome ORPHA:476403
- Congenital generalized hypercontractile muscle stiffness syndrome ORPHA:476406
- Fatal infantile hypertonic myofibrillar myopathy ORPHA:280553
- Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome ORPHA:496686
- Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome ORPHA:476093
- Hereditary continuous muscle fiber activity ORPHA:972
- Brody myopathy ORPHA:53347
- Rippling muscle disease ORPHA:97238
- Congenital myopathy ORPHA:97245
- Qazi-Markouizos syndrome ORPHA:3010
- Carey-Fineman-Ziter syndrome ORPHA:1358
- Congenital fiber-type disproportion myopathy ORPHA:2020
- Tubular aggregate myopathy ORPHA:2593
- Intellectual disability-myopathy-short stature-endocrine defect syndrome ORPHA:3068
- Centronuclear myopathy ORPHA:595
- X-linked centronuclear myopathy ORPHA:596
- Autosomal recessive centronuclear myopathy ORPHA:169186
- Autosomal dominant centronuclear myopathy ORPHA:169189
- X-linked myotubular myopathy-abnormal genitalia syndrome ORPHA:456328
- Symptomatic form of X-linked centronuclear myopathy in female carriers ORPHA:604680
- Congenital myopathy with internal nuclei and atypical cores ORPHA:319160
- Myosin storage myopathy ORPHA:53698
- Autosomal dominant myosin storage myopathy ORPHA:636965
- Autosomal recessive myosin storage myopathy ORPHA:636970
- Fingerprint body myopathy ORPHA:97232
- Reducing body myopathy ORPHA:97239
- Zebra body myopathy ORPHA:97240
- Congenital myopathy with excess of thin filaments ORPHA:98904
- King-Denborough syndrome ORPHA:99741
- Native American myopathy ORPHA:168572
- Cap myopathy ORPHA:171881
- Cylindrical spirals myopathy ORPHA:171886
- Myopathy with hexagonally cross-linked tubular arrays ORPHA:171889
- Congenital myopathy with cores ORPHA:172976
- Central core disease ORPHA:597
- Multiminicore myopathy ORPHA:598
- Congenital multicore myopathy with external ophthalmoplegia ORPHA:98905
- Moderate multiminicore disease with hand involvement ORPHA:178145
- Antenatal multiminicore disease with arthrogryposis multiplex congenita ORPHA:178148
- Classic multiminicore myopathy ORPHA:324604
- Congenital myopathy with internal nuclei and atypical cores ORPHA:319160
- Congenital lethal myopathy, Compton-North type ORPHA:210163
- Benign Samaritan congenital myopathy ORPHA:324581
- Fetal akinesia-cerebral and retinal hemorrhage syndrome ORPHA:363409
- Congenital myopathy with myasthenic-like onset ORPHA:424107
- Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome ORPHA:439212
- Congenital myopathy with reduced type 2 muscle fibers ORPHA:544602
- Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome ORPHA:447974
- Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome ORPHA:467176
- Congenital nemaline myopathy ORPHA:457074
- Metabolic myopathy ORPHA:98486
- Mitochondrial myopathy ORPHA:206966
- Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome ORPHA:502423
- Kearns-Sayre syndrome ORPHA:480
- MELAS ORPHA:550
- MERRF ORPHA:551
- Isolated complex I deficiency ORPHA:2609
- Adenosine monophosphate deaminase deficiency ORPHA:45
- Barth syndrome ORPHA:111
- Mitochondrial myopathy-lactic acidosis-deafness syndrome ORPHA:2597
- Mitochondrial myopathy and sideroblastic anemia ORPHA:2598
- Mitochondrial trifunctional protein deficiency ORPHA:746
- Isolated succinate-CoQ reductase deficiency ORPHA:3208
- Mitochondrial DNA-related progressive external ophthalmoplegia ORPHA:663
- Mitochondrial neurogastrointestinal encephalomyopathy ORPHA:298
- Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome ORPHA:70595
- Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency ORPHA:329314
- Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy ORPHA:329336
- Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome ORPHA:330054
- DNA2-related mitochondrial DNA deletion syndrome ORPHA:352470
- Mitochondrial DNA depletion syndrome, myopathic form ORPHA:254875
- Progressive external ophthalmoplegia-myopathy-emaciation syndrome ORPHA:352447
- Autosomal dominant mitochondrial myopathy with exercise intolerance ORPHA:457050
- Hereditary myopathy with lactic acidosis due to ISCU deficiency ORPHA:43115
- Metabolic myopathy due to lactate transporter defect ORPHA:171690
- Muscular lipidosis ORPHA:206953
- Carnitine palmitoyltransferase II deficiency ORPHA:157
- Carnitine palmitoyl transferase II deficiency, myopathic form ORPHA:228302
- Carnitine palmitoyl transferase II deficiency, severe infantile form ORPHA:228305
- Carnitine palmitoyl transferase II deficiency, neonatal form ORPHA:228308
- Neutral lipid storage disease ORPHA:165
- Neutral lipid storage disease with ichthyosis ORPHA:98907
- Neutral lipid storage disease with myopathy ORPHA:98908
- Triglyceride deposit cardiomyovasculopathy ORPHA:692305
- Systemic primary carnitine deficiency ORPHA:158
- Myopathy and diabetes mellitus ORPHA:2596
- Multiple acyl-CoA dehydrogenase deficiency ORPHA:26791
- Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type ORPHA:394529
- Multiple acyl-CoA dehydrogenase deficiency, mild type ORPHA:394532
- Short chain acyl-CoA dehydrogenase deficiency ORPHA:26792
- Very long chain acyl-CoA dehydrogenase deficiency ORPHA:26793
- Genetic recurrent myoglobinuria ORPHA:99845
- Autosomal dominant myoglobinuria ORPHA:99846
- Muscular glycogenosis ORPHA:206959
- Glycogen storage disease due to acid maltase deficiency ORPHA:365
- Glycogen storage disease due to acid maltase deficiency, infantile onset ORPHA:308552
- Glycogen storage disease due to acid maltase deficiency, late-onset ORPHA:420429
- Glycogen storage disease due to glycogen debranching enzyme deficiency ORPHA:366
- Glycogen storage disease due to glycogen branching enzyme deficiency ORPHA:367
- Adult polyglucosan body disease ORPHA:206583
- Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form ORPHA:308621
- Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form ORPHA:308638
- Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form ORPHA:308655
- Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form ORPHA:308670
- Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form ORPHA:308684
- Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form ORPHA:308698
- Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form ORPHA:308712
- Glycogen storage disease due to muscle glycogen phosphorylase deficiency ORPHA:368
- Glycogen storage disease due to muscle phosphofructokinase deficiency ORPHA:371
- Glycogen storage disease due to muscle phosphorylase kinase deficiency ORPHA:715
- Glycogen storage disease due to phosphoglycerate kinase 1 deficiency ORPHA:713
- Danon disease ORPHA:34587
- Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency ORPHA:79240
- Glycogen storage disease due to phosphoglycerate mutase deficiency ORPHA:97234
- Glycogen storage disease due to muscle beta-enolase deficiency ORPHA:99849
- Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency ORPHA:263297
- Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency ORPHA:284426
- Polyglucosan body myopathy type 1 ORPHA:397937
- Polyglucosan body myopathy type 2 ORPHA:456369
- Inclusion myopathy ORPHA:206662
- GNE myopathy ORPHA:602
- X-linked myopathy with excessive autophagy ORPHA:25980
- Inclusion body myopathy with Paget disease of bone and frontotemporal dementia ORPHA:52430
- Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome ORPHA:79091
- Desmin-related myopathy with Mallory body-like inclusions ORPHA:84132
- Desminopathy ORPHA:98909
- Hereditary myopathy with early respiratory failure ORPHA:178464
- Hereditary inclusion body myopathy type 4 ORPHA:324381
- Childhood-onset autosomal recessive myopathy with external ophthalmoplegia ORPHA:363677
- Early-onset myopathy with fatal cardiomyopathy ORPHA:289377
- Proximal myopathy with extrapyramidal signs ORPHA:401768
- Nemaline myopathy ORPHA:607
- Amish nemaline myopathy ORPHA:98902
- Severe congenital nemaline myopathy ORPHA:171430
- Intermediate nemaline myopathy ORPHA:171433
- Typical nemaline myopathy ORPHA:171436
- Childhood-onset nemaline myopathy ORPHA:171439
- Adult-onset nemaline myopathy ORPHA:171442
- Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome ORPHA:221043
- Myosclerosis ORPHA:289380
- Myotonic syndrome ORPHA:206970
- Paramyotonia congenita of Von Eulenburg ORPHA:684
- Potassium-aggravated myotonia ORPHA:612
- Myotonia fluctuans ORPHA:99734
- Myotonia permanens ORPHA:99735
- Acetazolamide-responsive myotonia ORPHA:99736
- Myotonic dystrophy ORPHA:206647
- Steinert myotonic dystrophy ORPHA:273
- Childhood-onset Steinert myotonic dystrophy ORPHA:589824
- Juvenile-onset Steinert myotonic dystrophy ORPHA:589827
- Adult-onset Steinert myotonic dystrophy ORPHA:589830
- Late-onset Steinert myotonic dystrophy ORPHA:589833
- Congenital-onset Steinert myotonic dystrophy ORPHA:589821
- Proximal myotonic myopathy ORPHA:606
- Congenital myotonia ORPHA:206973
- Genetic periodic paralysis ORPHA:371433
- Qualitative or quantitative protein defects in neuromuscular diseases ORPHA:207049
- Qualitative or quantitative defects of sarcoglycan ORPHA:207052
- Qualitative or quantitative defects of alpha-sarcoglycan ORPHA:207060
- Qualitative or quantitative defects of beta-sarcoglycan ORPHA:207063
- Qualitative or quantitative defects of gamma-sarcoglycan ORPHA:207067
- Qualitative or quantitative defects of delta-sarcoglycan ORPHA:207070
- Qualitative or quantitative defects of dysferlin ORPHA:207073
- Dysferlin-related limb-girdle muscular dystrophy R2 ORPHA:268
- Miyoshi myopathy ORPHA:45448
- Distal myopathy with anterior tibial onset ORPHA:178400
- Congenital myopathy, Paradas type ORPHA:199329
- Qualitative or quantitative defects of caveolin-3 ORPHA:207078
- Rippling muscle disease ORPHA:97238
- Isolated asymptomatic elevation of creatine phosphokinase ORPHA:206599
- Distal myopathy, Tateyama type ORPHA:488650
- Qualitative or quantitative defects of dystrophin ORPHA:207085
- Familial isolated dilated cardiomyopathy ORPHA:154
- Becker muscular dystrophy ORPHA:98895
- Duchenne muscular dystrophy ORPHA:98896
- Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers ORPHA:206546
- Isolated asymptomatic elevation of creatine phosphokinase ORPHA:206599
- Qualitative or quantitative defects of collagen 6 ORPHA:207090
- Collagen VI-related congenital muscular dystrophy ORPHA:646098
- Bethlem muscular dystrophy ORPHA:610
- Ullrich congenital muscular dystrophy ORPHA:75840
- Intermediate collagen VI-related muscular dystrophy ORPHA:646113
- Myosclerosis ORPHA:289380
- Laminin subunit alpha 2-related muscular dystrophy ORPHA:207094
- Laminin subunit alpha 2-related congenital muscular dystrophy ORPHA:258
- Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 ORPHA:565837
- Qualitative or quantitative defects of integrin alpha-7 ORPHA:207098
- Qualitative or quantitative defects of perlecan ORPHA:207101
- Qualitative or quantitative defects of calpain ORPHA:207104
- Calpain-3-related limb-girdle muscular dystrophy D4 ORPHA:565909
- Calpain-3-related limb-girdle muscular dystrophy R1 ORPHA:267
- Qualitative or quantitative defects of TRIM32 ORPHA:207107
- Qualitative or quantitative defects of myotubularin ORPHA:207110
- X-linked centronuclear myopathy ORPHA:596
- X-linked myotubular myopathy-abnormal genitalia syndrome ORPHA:456328
- Symptomatic form of X-linked centronuclear myopathy in female carriers ORPHA:604680
- Qualitative or quantitative defects of myofibrillar proteins ORPHA:209038
- Qualitative or quantitative defects of desmin ORPHA:209041
- Desmin-related myopathy with Mallory body-like inclusions ORPHA:84132
- Neurogenic scapuloperoneal syndrome, Kaeser type ORPHA:85146
- Rigid spine syndrome ORPHA:97244
- Desminopathy ORPHA:98909
- Qualitative or quantitative defects of alphaB-cristallin ORPHA:209044
- Qualitative or quantitative defects of filamin C ORPHA:209047
- Qualitative or quantitative defects of protein ZASP ORPHA:209050
- Qualitative or quantitative defects of titin ORPHA:209053
- Tibial muscular dystrophy ORPHA:609
- Titin-related limb-girdle muscular dystrophy R10 ORPHA:140922
- Autosomal recessive centronuclear myopathy ORPHA:169186
- Hereditary myopathy with early respiratory failure ORPHA:178464
- Early-onset myopathy with fatal cardiomyopathy ORPHA:289377
- Qualitative or quantitative defects of telethonin ORPHA:209056
- Qualitative or quantitative defects of alpha-actin ORPHA:209059
- Congenital fiber-type disproportion myopathy ORPHA:2020
- Congenital myopathy with excess of thin filaments ORPHA:98904
- Severe congenital nemaline myopathy ORPHA:171430
- Intermediate nemaline myopathy ORPHA:171433
- Typical nemaline myopathy ORPHA:171436
- Childhood-onset nemaline myopathy ORPHA:171439
- Adult-onset nemaline myopathy ORPHA:171442
- Qualitative or quantitative defects of nebulin ORPHA:209182
- Severe congenital nemaline myopathy ORPHA:171430
- Intermediate nemaline myopathy ORPHA:171433
- Typical nemaline myopathy ORPHA:171436
- Childhood-onset nemaline myopathy ORPHA:171439
- Adult-onset nemaline myopathy ORPHA:171442
- Qualitative or quantitative defects of beta-myosin heavy chain (MYH7) ORPHA:209185
- Myosin storage myopathy ORPHA:53698
- Autosomal dominant myosin storage myopathy ORPHA:636965
- Autosomal recessive myosin storage myopathy ORPHA:636970
- Laing distal myopathy ORPHA:59135
- Qualitative or quantitative defects of emerin ORPHA:209188
- Qualitative or quantitative defects of selenoprotein N1 ORPHA:209193
- Congenital fiber-type disproportion myopathy ORPHA:2020
- Multiminicore myopathy ORPHA:598
- Congenital multicore myopathy with external ophthalmoplegia ORPHA:98905
- Moderate multiminicore disease with hand involvement ORPHA:178145
- Antenatal multiminicore disease with arthrogryposis multiplex congenita ORPHA:178148
- Classic multiminicore myopathy ORPHA:324604
- Desmin-related myopathy with Mallory body-like inclusions ORPHA:84132
- Rigid spine syndrome ORPHA:97244
- Qualitative or quantitative defects of plectin ORPHA:209196
- Epidermolysis bullosa simplex with muscular dystrophy ORPHA:257
- Plectin-related limb-girdle muscular dystrophy R17 ORPHA:254361
- Qualitative or quantitative defects of protein SERCA1 ORPHA:209199
- Brody myopathy ORPHA:53347
- Vacuolar myopathy with sarcoplasmic reticulum protein aggregates ORPHA:88635
- Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - ORPHA:209203
- Myotilinopathy ORPHA:209224
- Autosomal dominant limb-girdle muscular dystrophy type 1A ORPHA:266
- Distal myotilinopathy ORPHA:98911
- Spheroid body myopathy ORPHA:268129
- Qualitative or quantitative defects of troponin ORPHA:284786
- Qualitative or quantitative defects of tropomyosin ORPHA:284790
- Congenital fiber-type disproportion myopathy ORPHA:2020
- Intermediate nemaline myopathy ORPHA:171433
- Typical nemaline myopathy ORPHA:171436
- Childhood-onset nemaline myopathy ORPHA:171439
- Cap myopathy ORPHA:171881
- Congenital generalized hypercontractile muscle stiffness syndrome ORPHA:476406
- Qualitative or quantitative defects of alpha-dystroglycan ORPHA:371024
- Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan ORPHA:207113
- Qualitative or quantitative defects of FKRP ORPHA:207119
- Walker-Warburg syndrome ORPHA:899
- Muscle-eye-brain disease ORPHA:588
- FKRP-related limb-girdle muscular dystrophy R9 ORPHA:34515
- Qualitative or quantitative defects of fukutin ORPHA:207122
- Congenital muscular dystrophy, Fukuyama type ORPHA:272
- Walker-Warburg syndrome ORPHA:899
- Muscle-eye-brain disease ORPHA:588
- Anoctamin-5-related limb-girdle muscular dystrophy R12 ORPHA:206549
- Fukutin-related limb-girdle muscular dystrophy R13 ORPHA:206554
- Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase ORPHA:209024
- Walker-Warburg syndrome ORPHA:899
- Muscle-eye-brain disease ORPHA:588
- POMGNT1-related limb-girdle muscular dystrophy R15 ORPHA:206564
- Qualitative or quantitative defects of protein glycosyltransferase-like ORPHA:209027
- Qualitative or quantitative defects of protein O-mannosyltransferase 1 ORPHA:209030
- Qualitative or quantitative defects of protein O-mannosyltransferase 2 ORPHA:209033
- Walker-Warburg syndrome ORPHA:899
- Muscle-eye-brain disease ORPHA:588
- POMT2-related limb-girdle muscular dystrophy R14 ORPHA:206559
- ISPD-related limb-girdle muscular dystrophy R20 ORPHA:352479
- Limb-girdle muscular dystrophy due to POMK deficiency ORPHA:445110
- POMGNT2-related limb-girdle muscular dystrophy R24 ORPHA:565899
- Primary qualitative or quantitative defects of alpha-dystroglycan ORPHA:371040
- Qualitative or quantitative defects of Torsin-1A-interacting protein 1 ORPHA:424925
- Genetic neurological muscular channelopathy ORPHA:98737
- Neurological muscular channelopathy due to a genetic sodium channel defect ORPHA:98738
- Paramyotonia congenita of Von Eulenburg ORPHA:684
- Hypokalemic periodic paralysis ORPHA:681
- Hyperkalemic periodic paralysis ORPHA:682
- Potassium-aggravated myotonia ORPHA:612
- Myotonia fluctuans ORPHA:99734
- Myotonia permanens ORPHA:99735
- Acetazolamide-responsive myotonia ORPHA:99736
- Postsynaptic congenital myasthenic syndromes ORPHA:98913
- Congenital limbs-face contractures-hypotonia-developmental delay syndrome ORPHA:562528
- Distal arthrogryposis type 1 ORPHA:1146
- Freeman-Sheldon syndrome ORPHA:2053
- Hypotonia-speech impairment-severe cognitive delay syndrome ORPHA:371364
- Sheldon-Hall syndrome ORPHA:1147
- Neurological muscular channelopathy due to a genetic chloride channel defect ORPHA:98739
- Neurological muscular channelopathy due to a genetic calcium channel defect ORPHA:98740
- Hypokalemic periodic paralysis ORPHA:681
- Periodic paralysis with transient compartment-like syndrome ORPHA:397755
- Neurological muscular channelopathy due to a genetic potassium channel defect ORPHA:98741
- Hypokalemic periodic paralysis ORPHA:681
- Andersen-Tawil syndrome ORPHA:37553
- Myoclonus-dystonia syndrome ORPHA:36899
- Hereditary continuous muscle fiber activity ORPHA:972
- Neurological muscular channelopathy due to a genetic ryanodine receptor defect ORPHA:98742
- Central core disease ORPHA:597
- Malignant hyperthermia of anesthesia ORPHA:423
- Autosomal recessive centronuclear myopathy ORPHA:169186
- Benign Samaritan congenital myopathy ORPHA:324581
- Congenital multicore myopathy with external ophthalmoplegia ORPHA:98905
- Congenital myopathy with myasthenic-like onset ORPHA:424107
- King-Denborough syndrome ORPHA:99741
- Moderate multiminicore disease with hand involvement ORPHA:178145
- Genetic neurodegenerative disease ORPHA:183500
- Combined oxidative phosphorylation defect type 29 ORPHA:478029
- Alexander disease ORPHA:58
- Canavan disease ORPHA:141
- Krabbe disease ORPHA:487
- Late-infantile/juvenile Krabbe disease ORPHA:206443
- Adult Krabbe disease ORPHA:206448
- Infantile Krabbe disease ORPHA:206436
- Kennedy disease ORPHA:481
- Chédiak-Higashi syndrome ORPHA:167
- Cockayne syndrome ORPHA:191
- COFS syndrome ORPHA:1466
- Cockayne syndrome type 1 ORPHA:90321
- Cockayne syndrome type 2 ORPHA:90322
- Cockayne syndrome type 3 ORPHA:90324
- Neuronal ceroid lipofuscinosis ORPHA:216
- Progressive epilepsy-intellectual disability syndrome, Finnish type ORPHA:1947
- CLN1 disease ORPHA:228329
- CLN2 disease ORPHA:228349
- CLN3 disease ORPHA:228346
- CLN4 disease ORPHA:228343
- CLN12 disease ORPHA:314632
- CLN11 disease ORPHA:314629
- CLN5 disease ORPHA:228360
- CLN6 disease ORPHA:228363
- CLN7 disease ORPHA:228366
- CLN8 disease ORPHA:228354
- CLN13 disease ORPHA:352709
- CLN10 disease ORPHA:228337
- Hereditary spastic paraplegia ORPHA:685
- Pure hereditary spastic paraplegia ORPHA:102012
- Autosomal dominant pure spastic paraplegia ORPHA:100980
- Autosomal dominant spastic paraplegia type 12 ORPHA:100993
- Autosomal dominant spastic paraplegia type 19 ORPHA:100999
- Autosomal dominant spastic paraplegia type 37 ORPHA:171612
- Autosomal dominant spastic paraplegia type 42 ORPHA:171863
- Autosomal dominant spastic paraplegia type 41 ORPHA:320355
- Autosomal spastic paraplegia type 72 ORPHA:401849
- Autosomal dominant spastic paraplegia type 73 ORPHA:444099
- IFIH1-related hereditary spastic paraplegia ORPHA:689231
- Autosomal dominant spastic paraplegia type 80 ORPHA:631068
- Autosomal recessive pure spastic paraplegia ORPHA:100982
- Autosomal recessive spastic paraplegia type 24 ORPHA:101004
- Autosomal recessive spastic paraplegia type 28 ORPHA:101008
- Autosomal recessive spastic paraplegia type 62 ORPHA:401785
- Autosomal recessive spastic paraplegia type 71 ORPHA:401840
- Autosomal spastic paraplegia type 72 ORPHA:401849
- Autosomal recessive spastic paraplegia type 83 ORPHA:631076
- RNASEH2B-related hereditary spastic paraplegia ORPHA:689234
- X-linked pure spastic paraplegia ORPHA:320332
- Complex hereditary spastic paraplegia ORPHA:102013
- X-linked complex spastic paraplegia ORPHA:98888
- Autosomal dominant complex spastic paraplegia ORPHA:100979
- Autosomal dominant spastic paraplegia type 9A ORPHA:447753
- Spastic paraplegia-facial-cutaneous lesions syndrome ORPHA:2819
- Spastic paraplegia-nephritis-deafness syndrome ORPHA:2820
- Spastic paraplegia-neuropathy-poikiloderma syndrome ORPHA:2821
- Spastic paraplegia-precocious puberty syndrome ORPHA:2826
- Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome ORPHA:521390
- Autosomal dominant spastic paraplegia type 17 ORPHA:100998
- Autosomal dominant spastic paraplegia type 29 ORPHA:101009
- Autosomal dominant spastic paraplegia type 38 ORPHA:171617
- Autosomal dominant spastic paraplegia type 36 ORPHA:320365
- Spastic paraplegia-Paget disease of bone syndrome ORPHA:329475
- Spastic paraparesis-cataracts-speech delay syndrome ORPHA:615938
- Autosomal recessive complex spastic paraplegia ORPHA:100981
- Spastic paraplegia-severe developmental delay-epilepsy syndrome ORPHA:464282
- Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome ORPHA:477673
- Autosomal recessive spastic paraplegia type 75 ORPHA:459056
- Spastic paraplegia-glaucoma-intellectual disability syndrome ORPHA:2818
- Autosomal recessive spastic paraplegia type 15 ORPHA:100996
- Autosomal recessive spastic paraplegia type 20 ORPHA:101000
- Autosomal recessive spastic paraplegia type 23 ORPHA:101003
- Autosomal recessive spastic paraplegia type 25 ORPHA:101005
- Autosomal recessive spastic paraplegia type 26 ORPHA:101006
- Autosomal recessive spastic paraplegia type 39 ORPHA:139480
- Mutilating hereditary sensory neuropathy with spastic paraplegia ORPHA:139578
- Autosomal recessive spastic paraplegia type 32 ORPHA:171622
- Severe intellectual disability and progressive spastic paraplegia ORPHA:280763
- Autosomal recessive spastic paraplegia type 53 ORPHA:319199
- Autosomal recessive spastic paraplegia type 43 ORPHA:320370
- Autosomal recessive spastic paraplegia type 54 ORPHA:320380
- Hereditary sensory and autonomic neuropathy due to TECPR2 mutation ORPHA:320385
- Autosomal recessive spastic paraplegia type 46 ORPHA:320391
- Autosomal recessive spastic paraplegia type 44 ORPHA:320401
- Autosomal spastic paraplegia type 58 ORPHA:397946
- Autosomal recessive spastic paraplegia type 61 ORPHA:401780
- Autosomal recessive spastic paraplegia type 59 ORPHA:401795
- Autosomal recessive spastic paraplegia type 60 ORPHA:401800
- Autosomal recessive spastic paraplegia type 63 ORPHA:401805
- Autosomal recessive spastic paraplegia type 64 ORPHA:401810
- Autosomal recessive spastic paraplegia type 66 ORPHA:401815
- Autosomal recessive spastic paraplegia type 67 ORPHA:401820
- Autosomal recessive spastic paraplegia type 69 ORPHA:401830
- Autosomal recessive spastic paraplegia type 70 ORPHA:401835
- Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder ORPHA:431320
- Spastic paraplegia-optic atrophy-neuropathy syndrome ORPHA:320406
- Autosomal recessive spastic paraplegia type 57 ORPHA:431329
- Autosomal recessive spastic paraplegia type 74 ORPHA:468661
- Autosomal recessive spastic paraplegia type 55 ORPHA:320375
- Autosomal recessive spastic paraplegia type 9B ORPHA:447760
- Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction ORPHA:506353
- Autosomal recessive spastic paraplegia type 21 ORPHA:101001
- Autosomal recessive spastic paraplegia type 35 ORPHA:171629
- Fatty acid hydroxylase-associated neurodegeneration ORPHA:329308
- Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome ORPHA:496689
- Autosomal recessive spastic paraplegia type 76 ORPHA:488594
- Autosomal recessive spastic paraplegia type 82 ORPHA:631073
- Autosomal recessive spastic paraplegia type 84 ORPHA:631079
- Autosomal recessive spastic paraplegia type 78 ORPHA:513436
- Autosomal recessive spastic paraplegia type 85 ORPHA:631082
- Autosomal recessive spastic paraplegia type 86 ORPHA:631085
- MT-ATP6-related mitochondrial spastic paraplegia ORPHA:320360
- Pure or complex hereditary spastic paraplegia ORPHA:320335
- Pure or complex autosomal dominant spastic paraplegia ORPHA:320342
- Autosomal spastic paraplegia type 30 ORPHA:101010
- Autosomal spastic paraplegia type 18 ORPHA:209951
- Autosomal dominant spastic paraplegia type 3 ORPHA:100984
- Autosomal dominant spastic paraplegia type 4 ORPHA:100985
- Autosomal dominant spastic paraplegia type 6 ORPHA:100988
- Autosomal dominant spastic paraplegia type 10 ORPHA:100991
- Autosomal dominant spastic paraplegia type 13 ORPHA:100994
- Autosomal dominant spastic paraplegia type 31 ORPHA:101011
- Spastic paraplegia type 7 ORPHA:99013
- Autosomal dominant spastic paraplegia type 9B ORPHA:447757
- Autosomal dominant spastic paraplegia type 8 ORPHA:100989
- Pure or complex autosomal recessive spastic paraplegia ORPHA:320346
- Autosomal recessive spastic paraplegia type 87 ORPHA:631088
- Macrocephaly-spastic paraplegia-dysmorphism syndrome ORPHA:2429
- Autosomal recessive spastic paraplegia type 11 ORPHA:2822
- Spastic paraplegia type 7 ORPHA:99013
- Autosomal recessive spastic paraplegia type 5A ORPHA:100986
- Autosomal recessive spastic paraplegia type 14 ORPHA:100995
- Autosomal spastic paraplegia type 30 ORPHA:101010
- Autosomal recessive spastic paraplegia type 45 ORPHA:320396
- Autosomal recessive spastic paraplegia type 48 ORPHA:306511
- Autosomal recessive spastic paraplegia type 56 ORPHA:320411
- Autosomal recessive spastic paraplegia type 77 ORPHA:466722
- Autosomal recessive spastic paraplegia type 27 ORPHA:101007
- Pure or complex X-linked spastic paraplegia ORPHA:320350
- Pelizaeus-Merzbacher disease ORPHA:702
- Pelizaeus-Merzbacher disease, connatal form ORPHA:280210
- Pelizaeus-Merzbacher disease, classic form ORPHA:280219
- Pelizaeus-Merzbacher disease, transitional form ORPHA:280224
- Pelizaeus-Merzbacher disease in female carriers ORPHA:280229
- Null syndrome ORPHA:280234
- X-linked adrenoleukodystrophy ORPHA:43
- Niemann-Pick disease type C ORPHA:646
- Niemann-Pick disease type C, severe perinatal form ORPHA:216972
- Niemann-Pick disease type C, severe early infantile neurologic onset ORPHA:216975
- Niemann-Pick disease type C, late infantile neurologic onset ORPHA:216978
- Niemann-Pick disease type C, juvenile neurologic onset ORPHA:216981
- Niemann-Pick disease type C, adult neurologic onset ORPHA:216986
- Alpers-Huttenlocher syndrome ORPHA:726
- Neuronal intranuclear inclusion disease ORPHA:2289
- PEHO syndrome ORPHA:2836
- Primary lateral sclerosis ORPHA:35689
- Mohr-Tranebjaerg syndrome ORPHA:52368
- Posterior cortical atrophy ORPHA:54247
- Microphthalmia-brain atrophy syndrome ORPHA:77299
- Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome ORPHA:83629
- Facial onset sensory and motor neuronopathy ORPHA:85162
- X-linked spinocerebellar ataxia type 4 ORPHA:85292
- X-linked neurodegenerative syndrome, Bertini type ORPHA:85334
- X-linked neurodegenerative syndrome, Hamel type ORPHA:85336
- Huntington disease-like syndrome ORPHA:158266
- Childhood-onset benign chorea with striatal involvement ORPHA:494541
- Dentatorubral pallidoluysian atrophy ORPHA:101
- Benign hereditary chorea ORPHA:1429
- Spinocerebellar ataxia type 1 ORPHA:98755
- Spinocerebellar ataxia type 2 ORPHA:98756
- Spinocerebellar ataxia type 3 ORPHA:98757
- Machado-Joseph disease type 1 ORPHA:276238
- Machado-Joseph disease type 2 ORPHA:276241
- Machado-Joseph disease type 3 ORPHA:276244
- Spinocerebellar ataxia type 17 ORPHA:98759
- Neuroferritinopathy ORPHA:157846
- Huntington disease-like 3 ORPHA:157946
- Neuroacanthocytosis ORPHA:263440
- Neurodegenerative syndrome due to cerebral folate transport deficiency ORPHA:217382
- Amyotrophic lateral sclerosis ORPHA:803
- Genetic neurodegenerative disease with dementia ORPHA:276058
- Neurodegeneration with brain iron accumulation ORPHA:385
- Woodhouse-Sakati syndrome ORPHA:3464
- Aceruloplasminemia ORPHA:48818
- Neuroferritinopathy ORPHA:157846
- Pantothenate kinase-associated neurodegeneration ORPHA:157850
- Classic pantothenate kinase-associated neurodegeneration ORPHA:216866
- Atypical pantothenate kinase-associated neurodegeneration ORPHA:216873
- Mitochondrial membrane protein-associated neurodegeneration ORPHA:289560
- Kufor-Rakeb syndrome ORPHA:306674
- Beta-propeller protein-associated neurodegeneration ORPHA:329284
- PLA2G6-associated neurodegeneration ORPHA:329303
- Fatty acid hydroxylase-associated neurodegeneration ORPHA:329308
- COASY protein-associated neurodegeneration ORPHA:397725
- Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome ORPHA:496756
- Huntington disease ORPHA:399
- Early-onset autosomal dominant Alzheimer disease ORPHA:1020
- Ataxia with dementia ORPHA:98538
- Early-onset ataxia with dementia ORPHA:98539
- Autosomal recessive cerebellar ataxia ORPHA:1172
- Autosomal recessive ataxia, Beauce type ORPHA:88644
- Autosomal recessive congenital cerebellar ataxia ORPHA:98095
- Autosomal recessive cerebelloparenchymal disorder type 3 ORPHA:1170
- Dysequilibrium syndrome ORPHA:1766
- CAMOS syndrome ORPHA:83472
- Cerebellar ataxia, Cayman type ORPHA:94122
- Joubert syndrome and related disorders ORPHA:140874
- Joubert syndrome with oculorenal defect ORPHA:2318
- Joubert syndrome ORPHA:475
- Joubert syndrome with hepatic defect ORPHA:1454
- Orofaciodigital syndrome type 6 ORPHA:2754
- Joubert syndrome with ocular defect ORPHA:220493
- Joubert syndrome with renal defect ORPHA:220497
- Joubert syndrome with Jeune asphyxiating thoracic dystrophy ORPHA:397715
- Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency ORPHA:453521
- Congenital cerebellar ataxia due to RNU12 mutation ORPHA:512260
- Autosomal recessive metabolic cerebellar ataxia ORPHA:98096
- Autosomal recessive ataxia due to PEX2 deficiency ORPHA:642965
- Ataxia with vitamin E deficiency ORPHA:96
- Abetalipoproteinemia ORPHA:14
- Refsum disease ORPHA:773
- Cerebrotendinous xanthomatosis ORPHA:909
- Infantile Refsum disease ORPHA:772
- Recessive mitochondrial ataxia syndrome ORPHA:94125
- Autosomal recessive ataxia due to PEX10 deficiency ORPHA:247815
- Autosomal recessive cerebellar ataxia with late-onset spasticity ORPHA:352641
- Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome ORPHA:363429
- Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency ORPHA:324262
- Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency ORPHA:363432
- Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome ORPHA:95433
- Autosomal recessive ataxia due to PEX16 deficiency ORPHA:642954
- Autosomal recessive cerebellar ataxia due to a DNA repair defect ORPHA:98097
- Ataxia-telangiectasia ORPHA:100
- Ataxia-oculomotor apraxia type 1 ORPHA:1168
- Spinocerebellar ataxia with axonal neuropathy type 2 ORPHA:64753
- Spinocerebellar ataxia with axonal neuropathy type 1 ORPHA:94124
- Xeroderma pigmentosum-Cockayne syndrome complex ORPHA:220295
- Ataxia-telangiectasia-like disorder ORPHA:251347
- Xeroderma pigmentosum ORPHA:910
- RIDDLE syndrome ORPHA:420741
- Autosomal recessive degenerative and progressive cerebellar ataxia ORPHA:98098
- Friedreich ataxia ORPHA:95
- Early-onset cerebellar ataxia with retained tendon reflexes ORPHA:1177
- Infantile-onset spinocerebellar ataxia ORPHA:1186
- Marinesco-Sjögren syndrome ORPHA:559
- Congenital cataracts-facial dysmorphism-neuropathy syndrome ORPHA:48431
- Posterior column ataxia-retinitis pigmentosa syndrome ORPHA:88628
- Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome ORPHA:496756
- Autosomal recessive syndromic cerebellar ataxia ORPHA:98099
- Ataxia-oculomotor apraxia type 4 ORPHA:459033
- Autosomal recessive cerebellar ataxia-movement disorder syndrome ORPHA:95434
- Autosomal recessive cerebellar ataxia-psychomotor delay syndrome ORPHA:284271
- Gemignani syndrome ORPHA:2074
- Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome ORPHA:504476
- Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome ORPHA:466794
- Autosomal recessive ataxia due to ubiquinone deficiency ORPHA:139485
- Adult-onset autosomal recessive cerebellar ataxia ORPHA:284289
- Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia ORPHA:284324
- Infantile-onset autosomal recessive nonprogressive cerebellar ataxia ORPHA:284332
- Spectrin-associated autosomal recessive cerebellar ataxia ORPHA:352403
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome ORPHA:404481
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency ORPHA:284282
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency ORPHA:404493
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency ORPHA:404499
- Autosomal recessive cerebellar ataxia due to STUB1 deficiency ORPHA:412057
- Late-onset ataxia with dementia ORPHA:98540
- Autosomal dominant cerebellar ataxia ORPHA:99
- Autosomal dominant cerebellar ataxia type I ORPHA:94145
- Spinocerebellar ataxia type 19/22 ORPHA:98772
- Spinocerebellar ataxia type 21 ORPHA:98773
- Spinocerebellar ataxia type 23 ORPHA:101108
- Spinocerebellar ataxia type 28 ORPHA:101109
- Spinocerebellar ataxia type 20 ORPHA:101110
- Spinocerebellar ataxia type 25 ORPHA:101111
- Spinocerebellar ataxia type 29 ORPHA:208513
- Spinocerebellar ataxia type 32 ORPHA:276183
- Spinocerebellar ataxia type 35 ORPHA:276193
- Spinocerebellar ataxia type 36 ORPHA:276198
- Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome ORPHA:314404
- Non-progressive cerebellar ataxia with intellectual disability ORPHA:314647
- Spinocerebellar ataxia type 37 ORPHA:363710
- Spinocerebellar ataxia type 40 ORPHA:423275
- Spinocerebellar ataxia type 34 ORPHA:1955
- Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome ORPHA:1171
- Spinocerebellar ataxia type 1 ORPHA:98755
- Spinocerebellar ataxia type 2 ORPHA:98756
- Spinocerebellar ataxia type 3 ORPHA:98757
- Machado-Joseph disease type 1 ORPHA:276238
- Machado-Joseph disease type 2 ORPHA:276241
- Machado-Joseph disease type 3 ORPHA:276244
- Spinocerebellar ataxia type 17 ORPHA:98759
- Spinocerebellar ataxia type 8 ORPHA:98760
- Spinocerebellar ataxia type 12 ORPHA:98762
- Spinocerebellar ataxia type 14 ORPHA:98763
- Spinocerebellar ataxia type 27A ORPHA:98764
- Spinocerebellar ataxia type 4 ORPHA:98765
- Spinocerebellar ataxia type 13 ORPHA:98768
- Spinocerebellar ataxia type 15/16 ORPHA:98769
- Spinocerebellar ataxia type 18 ORPHA:98771
- Spinocerebellar ataxia type 43 ORPHA:497764
- PUM1-associated developmental disability-ataxia-seizure syndrome ORPHA:589515
- Spinocerebellar ataxia type 46 ORPHA:589522
- Spinocerebellar ataxia type 48 ORPHA:631103
- Spinocerebellar ataxia type 27B ORPHA:675216
- Spinocerebellar ataxia type 49 ORPHA:631106
- Autosomal dominant cerebellar ataxia type III ORPHA:94148
- Spinocerebellar ataxia type 45 ORPHA:589527
- Spinocerebellar ataxia type 44 ORPHA:631095
- Spinocerebellar ataxia type 6 ORPHA:98758
- Spinocerebellar ataxia type 5 ORPHA:98766
- Spinocerebellar ataxia type 11 ORPHA:98767
- Spinocerebellar ataxia type 26 ORPHA:101112
- Spinocerebellar ataxia type 30 ORPHA:211017
- Spinocerebellar ataxia type 31 ORPHA:217012
- Spinocerebellar ataxia type 38 ORPHA:423296
- Spinocerebellar ataxia type 41 ORPHA:458798
- Spinocerebellar ataxia type 42 ORPHA:458803
- Autosomal dominant cerebellar ataxia type IV ORPHA:94149
- Autosomal dominant cerebellar ataxia type II ORPHA:208508
- PUM1-related cerebellar ataxia ORPHA:642747
- Juvenile Huntington disease ORPHA:248111
- Genetic frontotemporal degeneration with dementia ORPHA:276061
- Inclusion body myopathy with Paget disease of bone and frontotemporal dementia ORPHA:52430
- Progressive supranuclear palsy ORPHA:683
- Atypical progressive supranuclear palsy syndrome ORPHA:99750
- Progressive supranuclear palsy-predominant parkinsonism syndrome ORPHA:240085
- Progressive supranuclear palsy-pure akinesia with gait freezing syndrome ORPHA:240094
- Progressive supranuclear palsy-corticobasal syndrome ORPHA:240103
- Progressive supranuclear palsy-progressive non-fluent aphasia syndrome ORPHA:240112
- Classic progressive supranuclear palsy syndrome ORPHA:240071
- Frontotemporal dementia ORPHA:282
- Semantic dementia ORPHA:100069
- Progressive non-fluent aphasia ORPHA:100070
- Behavioral variant of frontotemporal dementia ORPHA:275864
- Frontotemporal dementia with motor neuron disease ORPHA:275872
- Huntington disease-like syndrome due to C9ORF72 expansions ORPHA:401901
- PRKAR1B-related neurodegenerative dementia with intermediate filaments ORPHA:412066
- ITM2B amyloidosis ORPHA:439254
- Hereditary late-onset Parkinson disease ORPHA:411602
- Nasu-Hakola disease ORPHA:2770
- Hereditary sensory neuropathy-deafness-dementia syndrome ORPHA:456318
- Inherited human prion disease ORPHA:280400
- Fatal familial insomnia ORPHA:466
- Huntington disease-like 1 ORPHA:157941
- Inherited Creutzfeldt-Jakob disease ORPHA:282166
- Gerstmann-Straussler-Scheinker syndrome ORPHA:356
- Familial Alzheimer-like prion disease ORPHA:280397
- PrP systemic amyloidosis ORPHA:397606
- Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia ORPHA:313808
- Neuroacanthocytosis ORPHA:263440
- GM2 gangliosidosis ORPHA:309152
- Sandhoff disease ORPHA:796
- Sandhoff disease, infantile form ORPHA:309155
- Sandhoff disease, juvenile form ORPHA:309162
- Sandhoff disease, adult form ORPHA:309169
- Tay-Sachs disease ORPHA:845
- Tay-Sachs disease, infantile form ORPHA:309178
- Tay-Sachs disease, juvenile form ORPHA:309185
- Tay-Sachs disease, adult form ORPHA:309192
- GM2 gangliosidosis, AB variant ORPHA:309246
- Infantile cerebellar-retinal degeneration ORPHA:313850
- Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome ORPHA:352654
- Attenuated Chédiak-Higashi syndrome ORPHA:352723
- Amyotrophic lateral sclerosis type 4 ORPHA:357043
- Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome ORPHA:363400
- Autosomal recessive cerebral atrophy ORPHA:363969
- Hypotonia-speech impairment-severe cognitive delay syndrome ORPHA:371364
- Fatal post-viral neurodegenerative disorder ORPHA:391343
- Ferro-cerebro-cutaneous syndrome ORPHA:397922
- PCNA-related progressive neurodegenerative photosensitivity syndrome ORPHA:438134
- Infantile bilateral striatal necrosis ORPHA:1576
- Sporadic infantile bilateral striatal necrosis ORPHA:225147
- Familial infantile bilateral striatal necrosis ORPHA:225154
- CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome ORPHA:610573
- Multiple mitochondrial dysfunctions syndrome type 5 ORPHA:569274
- Multiple mitochondrial dysfunctions syndrome type 6 ORPHA:569290
- Fibrosis-neurodegeneration-cerebral angiomatosis syndrome ORPHA:621758
- Multiple mitochondrial dysfunctions syndrome type 4 ORPHA:457406
- Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome ORPHA:457205
- ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement ORPHA:457375
- Childhood-onset basal ganglia degeneration syndrome ORPHA:497906
- Early-onset calcifying leukoencephalopathy-skeletal dysplasia ORPHA:556985
- MEPAN syndrome ORPHA:508093
- NAD(P)HX dehydratase deficiency ORPHA:555402
- NAD(P)HX epimerase deficiency ORPHA:555407
- Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome ORPHA:505242
- Proximal myopathy with extrapyramidal signs ORPHA:401768
- Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder ORPHA:500180
- Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ORPHA:496641
- Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome ORPHA:480864
- Genetic central nervous system and retinal vascular disease ORPHA:183503
- Von Hippel-Lindau disease ORPHA:892
- Familial or sporadic hemiplegic migraine ORPHA:569
- Familial exudative vitreoretinopathy ORPHA:891
- Rare disorder with a moyamoya angiopathy ORPHA:477771
- Moyamoya disease with early-onset achalasia ORPHA:401945
- Familial Chilblain lupus ORPHA:481662
- Microcephalic osteodysplastic primordial dwarfism type II ORPHA:2637
- Sickle cell anemia ORPHA:232
- Aicardi-Goutières syndrome ORPHA:51
- Turner syndrome ORPHA:881
- Monosomy X syndrome ORPHA:99226
- Mosaic monosomy X syndrome ORPHA:99228
- Turner syndrome due to structural X chromosome anomalies ORPHA:99413
- Noonan syndrome-like disorder with juvenile myelomonocytic leukemia ORPHA:363972
- Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome ORPHA:280679
- PHACE syndrome ORPHA:42775
- Noonan syndrome ORPHA:648
- Neurofibromatosis type 1 ORPHA:636
- 17q11 microdeletion syndrome ORPHA:97685
- Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion ORPHA:363700
- Costello syndrome ORPHA:3071
- Down syndrome ORPHA:870
- Genetic cerebral small vessel disease ORPHA:477754
- Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy ORPHA:136
- Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ORPHA:247691
- Fibrosis-neurodegeneration-cerebral angiomatosis syndrome ORPHA:621758
- Coats plus syndrome ORPHA:313838
- Leukoencephalopathy with calcifications and cysts ORPHA:542310
- COL4A1 or COL4A2-related cerebral small vessel disease ORPHA:477759
- COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency ORPHA:477765
- COL4A1/2-related familial vascular leukoencephalopathy ORPHA:36383
- HANAC syndrome ORPHA:73229
- Familial isolated retinal arteriolar tortuosity ORPHA:75326
- Familial porencephaly ORPHA:99810
- Familial schizencephaly ORPHA:481986
- COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendency ORPHA:477762
- Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome ORPHA:314572
- Cerebral Amyloid Angiopathy ORPHA:85458
- ABeta amyloidosis, Dutch type ORPHA:100006
- ACys amyloidosis ORPHA:100008
- ABetaL34V amyloidosis ORPHA:324703
- ABeta amyloidosis, Iowa type ORPHA:324708
- ABeta amyloidosis, Italian type ORPHA:324713
- ABetaA21G amyloidosis ORPHA:324718
- ABeta amyloidosis, Arctic type ORPHA:324723
- Cathepsin A-related arteriopathy-strokes-leukoencephalopathy ORPHA:575553
- HTRA1-related cerebral small vessel disease ORPHA:482072
- Pseudoxanthoma elasticum ORPHA:758
- Isolated spontaneous cervical artery dissection ORPHA:689001
- Primary angiitis of the central nervous system ORPHA:140989
- Genetic neurovascular malformation ORPHA:371436
- Familial cerebral saccular aneurysm ORPHA:231160
- Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome ORPHA:521445
- Hereditary hemorrhagic telangiectasia ORPHA:774
- Hereditary neurocutaneous malformation ORPHA:1062
- PHACE syndrome ORPHA:42775
- Cerebral arteriovenous malformation ORPHA:46724
- Retinal capillary malformation ORPHA:71213
- Glomuvenous malformation ORPHA:83454
- Familial cerebral cavernous malformation ORPHA:221061
- Vein of Galen aneurysmal malformation ORPHA:1053
- Multisystemic smooth muscle dysfunction syndrome ORPHA:404463
- Coats disease ORPHA:190
- Familial retinal arterial macroaneurysm ORPHA:284247
- Genetic central nervous system malformation ORPHA:183506
- Genetic non-syndromic central nervous system malformation ORPHA:269550
- Congenital hydrocephalus ORPHA:2185
- Congenital communicating hydrocephalus ORPHA:269505
- Congenital non-communicating hydrocephalus ORPHA:269510
- Neural tube defect ORPHA:3388
- Neural tube closure defect ORPHA:268357
- Spina bifida and other spinal dysraphisms ORPHA:823
- Open spinal dysraphism ORPHA:268369
- Open spinal dysraphism with a posterior meningocele ORPHA:645270
- Myelic limited dorsal malformation ORPHA:645378
- Open spinal dysraphism with a myelomeningocele ORPHA:93969
- Myeloschisis ORPHA:645398
- Spinal dysraphism with a posterior meningocele ORPHA:268744
- Isolated posterior meningocele ORPHA:268810
- Myelocystocele ORPHA:268813
- Saccular spinal dysraphism with a stalk to the dome ORPHA:645319
- Saccular limited dorsal myeloschisis ORPHA:645354
- Myelic limited dorsal malformation ORPHA:645378
- Terminal myelocystocele ORPHA:645337
- Open spinal dysraphism with a posterior meningocele ORPHA:645270
- Closed spinal dysraphism ORPHA:645202
- Split cord malformation ORPHA:573278
- Split cord malformation type I ORPHA:1671
- Split cord malformation type II ORPHA:573253
- Split cord malformation, composite type ORPHA:633076
- Isolated posterior meningocele ORPHA:268810
- Myelocystocele ORPHA:268813
- Segmental spinal dysgenesis ORPHA:656126
- Dysraphic spinal cord lipoma ORPHA:645273
- Caudal regression syndrome ORPHA:3027
- Dysraphism with stalk ORPHA:645193
- Retained medullary cord ORPHA:645334
- Spinal dermal sinus ORPHA:645188
- Limited dorsal myeloschisis ORPHA:645196
- Anomaly of the filum ORPHA:645282
- Spinal cord lipoma ORPHA:645276
- Malformation of the neurenteric canal, spinal cord and column ORPHA:268843
- Craniorachischisis ORPHA:63260
- Isolated anencephaly/exencephaly ORPHA:1048
- Iniencephaly ORPHA:63259
- Cephalocele ORPHA:268817
- Isolated encephalocele ORPHA:199647
- Parietal encephalocele ORPHA:268826
- Basal encephalocele ORPHA:268829
- Frontal encephalocele ORPHA:1931
- Nasal encephalocele ORPHA:141118
- Occipital encephalocele ORPHA:268823
- Cranial meningocele ORPHA:268820
- Segmental spinal dysgenesis ORPHA:656126
- Caudal regression syndrome ORPHA:3027
- Lateral meningocele syndrome ORPHA:2789
- Primary syringomyelia ORPHA:99856
- Primary tethered cord syndrome ORPHA:268861
- Neurenteric cyst ORPHA:268865
- Isolated amyelia ORPHA:268868
- Arnold-Chiari malformation type I ORPHA:268882
- Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome ORPHA:397927
- Arachnoid cyst ORPHA:2356
- Cranial nerve and nuclear aplasia ORPHA:98518
- Moebius syndrome ORPHA:570
- Duane retraction syndrome ORPHA:233
- Isolated hereditary congenital facial paralysis ORPHA:306527
- Congenital hereditary facial paralysis-variable hearing loss syndrome ORPHA:306530
- Congenital achiasma ORPHA:324353
- Genetic cerebral malformation ORPHA:269553
- Midline cerebral malformation ORPHA:268926
- Holoprosencephaly ORPHA:2162
- Lobar holoprosencephaly ORPHA:93924
- Alobar holoprosencephaly ORPHA:93925
- Midline interhemispheric variant of holoprosencephaly ORPHA:93926
- Semilobar holoprosencephaly ORPHA:220386
- Septopreoptic holoprosencephaly ORPHA:280195
- Aprosencephaly cerebellar dysgenesis ORPHA:1126
- Duplication of the pituitary gland ORPHA:314621
- Microform holoprosencephaly ORPHA:280200
- Encephaloclastic disorder ORPHA:269190
- Diencephalic-mesencephalic junction dysplasia ORPHA:319192
- Non-syndromic cerebral malformation due to abnormal neuronal migration ORPHA:163209
- Nodular neuronal heterotopia ORPHA:2149
- Periventricular nodular heterotopia ORPHA:98892
- Sub-cortical nodular heterotopia ORPHA:101029
- Subependymal nodular heterotopia ORPHA:101030
- Polymicrogyria ORPHA:35981
- Bilateral polymicrogyria ORPHA:268940
- Bilateral perisylvian polymicrogyria ORPHA:98889
- Bilateral frontoparietal polymicrogyria ORPHA:101070
- Bilateral parasagittal parieto-occipital polymicrogyria ORPHA:208441
- Bilateral frontal polymicrogyria ORPHA:208444
- Bilateral generalized polymicrogyria ORPHA:208447
- Unilateral polymicrogyria ORPHA:268943
- Subcortical band heterotopia ORPHA:99796
- Cerebral cortical dysplasia ORPHA:268950
- Isolated focal cortical dysplasia ORPHA:65683
- Occipital pachygyria and polymicrogyria ORPHA:280640
- Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation ORPHA:300570
- Autosomal recessive frontotemporal pachygyria ORPHA:329329
- Pachygyria-intellectual disability-epilepsy syndrome ORPHA:2798
- Isolated congenital microcephaly ORPHA:199642
- Autosomal recessive primary microcephaly ORPHA:2512
- Autosomal dominant primary microcephaly ORPHA:2514
- Isolated megalencephaly ORPHA:2477
- Genetic posterior fossa malformation ORPHA:269557
- Non-syndromic pontocerebellar hypoplasia ORPHA:98523
- Pontocerebellar hypoplasia type 2 ORPHA:2524
- Pontocerebellar hypoplasia type 1 ORPHA:2254
- Pontocerebellar hypoplasia type 3 ORPHA:97249
- Pontocerebellar hypoplasia type 4 ORPHA:166063
- Pontocerebellar hypoplasia type 6 ORPHA:166073
- Pontocerebellar hypoplasia type 7 ORPHA:284339
- Pontocerebellar hypoplasia type 8 ORPHA:324569
- Pontocerebellar hypoplasia type 9 ORPHA:369920
- Pontocerebellar hypoplasia type 10 ORPHA:411493
- Pontocerebellar hypoplasia type 12 ORPHA:611256
- Pontocerebellar hypoplasia type 11 ORPHA:611247
- Pontocerebellar hypoplasia type 13 ORPHA:613267
- Pontocerebellar hypoplasia type 14 ORPHA:613274
- Genetic cerebellar malformation ORPHA:269560
- Isolated Dandy-Walker malformation ORPHA:217
- Dermoid or epidermoid cyst of the central nervous system ORPHA:530033
- Genetic syndrome with a central nervous system malformation as a major feature ORPHA:269564
- Pancreatic agenesis-holoprosencephaly syndrome ORPHA:556955
- PRUNE1-related neurological syndrome ORPHA:544469
- Duane retraction syndrome with congenital deafness ORPHA:529574
- Meckel syndrome ORPHA:564
- Horizontal gaze palsy with progressive scoliosis ORPHA:2744
- Hydrolethalus ORPHA:2189
- Septo-optic dysplasia spectrum ORPHA:3157
- Familial caudal dysgenesis ORPHA:1768
- Lissencephaly ORPHA:48471
- Microlissencephaly ORPHA:1083
- Cobblestone lissencephaly ORPHA:51577
- Cobblestone lissencephaly without muscular or ocular involvement ORPHA:352682
- Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies ORPHA:352687
- Lissencephaly with cerebellar hypoplasia ORPHA:86823
- Lissencephaly with cerebellar hypoplasia type A ORPHA:100011
- Lissencephaly with cerebellar hypoplasia type B ORPHA:100012
- Lissencephaly with cerebellar hypoplasia type C ORPHA:100013
- Lissencephaly with cerebellar hypoplasia type D ORPHA:100014
- Lissencephaly with cerebellar hypoplasia type E ORPHA:100015
- Lissencephaly with cerebellar hypoplasia type F ORPHA:100016
- Classic lissencephaly ORPHA:102009
- Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome ORPHA:572013
- Lissencephaly type 1 due to doublecortin gene mutation ORPHA:2148
- Miller-Dieker syndrome ORPHA:531
- Isolated lissencephaly type 1 without known genetic defects ORPHA:1084
- Lissencephaly due to LIS1 mutation ORPHA:95232
- Other syndrome with lissencephaly as a major feature ORPHA:102010
- Craniotelencephalic dysplasia ORPHA:1528
- Micro syndrome ORPHA:2510
- Baraitser-Winter cerebrofrontofacial syndrome ORPHA:2995
- X-linked lissencephaly with abnormal genitalia ORPHA:452
- Lissencephaly type 3 ORPHA:102011
- Neu-Laxova syndrome ORPHA:2671
- Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency ORPHA:583602
- Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency ORPHA:583607
- Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency ORPHA:583612
- Lissencephaly type 3-familial fetal akinesia sequence syndrome ORPHA:86821
- Lissencephaly type 3-metacarpal bone dysplasia syndrome ORPHA:86822
- Lissencephaly due to TUBA1A mutation ORPHA:171680
- Cerebrooculonasal syndrome ORPHA:66625
- Macrocephaly-intellectual disability-autism syndrome ORPHA:210548
- Fowler vasculopathy ORPHA:221126
- Progressive cerebello-cerebral atrophy ORPHA:247198
- Polymicrogyria with optic nerve hypoplasia ORPHA:250972
- CK syndrome ORPHA:251383
- Syndrome with microcephaly as a major feature ORPHA:269528
- SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome ORPHA:597743
- Blepharophimosis-ptosis-epicanthus inversus syndrome plus ORPHA:572333
- PYCR2-related microcephaly-progressive leukoencephalopathy ORPHA:481152
- Micro syndrome ORPHA:2510
- Microcephaly-brachydactyly-kyphoscoliosis syndrome ORPHA:3433
- Bowen-Conradi syndrome ORPHA:1270
- Microcephaly-cardiomyopathy syndrome ORPHA:2515
- Microcephaly-cervical spine fusion anomalies syndrome ORPHA:2522
- Microcephaly-brain defect-spasticity-hypernatremia syndrome ORPHA:2523
- Microcephaly-lymphedema-chorioretinopathy syndrome ORPHA:2526
- Microcephaly-microcornea syndrome, Seemanova type ORPHA:2528
- Amish lethal microcephaly ORPHA:99742
- Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome ORPHA:293967
- Microcephaly-capillary malformation syndrome ORPHA:294016
- Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome ORPHA:306558
- Jawad syndrome ORPHA:313795
- Microcephalic primordial dwarfism ORPHA:324761
- Seckel syndrome ORPHA:808
- Ear-patella-short stature syndrome ORPHA:2554
- Microcephalic primordial dwarfism, Toriello type ORPHA:2643
- Microcephalic osteodysplastic primordial dwarfism types I and III ORPHA:2636
- Microcephalic osteodysplastic primordial dwarfism type II ORPHA:2637
- Microcephalic osteodysplastic dysplasia, Saul-Wilson type ORPHA:85172
- Alazami syndrome ORPHA:319671
- Microcephalic primordial dwarfism, Dauber type ORPHA:319675
- Microcephalic primordial dwarfism due to ZNF335 deficiency ORPHA:329228
- Microcephalic cortical malformations-short stature due to RTTN deficiency ORPHA:468631
- DNMT3A-related microcephalic dwarfism ORPHA:658595
- DONSON-related microcephaly-short stature-limb abnormalities spectrum ORPHA:572761
- Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome ORPHA:329332
- Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome ORPHA:391408
- Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ORPHA:402364
- Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome ORPHA:404437
- Orofaciodigital syndrome type 14 ORPHA:434179
- Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome ORPHA:439897
- NDE1-related microhydranencephaly ORPHA:443162
- Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ORPHA:477814
- Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome ORPHA:662762
- Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome ORPHA:662179
- Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome ORPHA:664923
- Rauch-Steindl syndrome ORPHA:659642
- Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome ORPHA:684240
- Intellectual disability-early-onset cataract-microcephaly syndrome ORPHA:633035
- Genetic syndrome with a cerebellar malformation as a major feature ORPHA:269567
- Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome ORPHA:480898
- Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome ORPHA:495875
- Vici syndrome ORPHA:1493
- Chudley-McCullough syndrome ORPHA:314597
- Joubert syndrome with oculorenal defect ORPHA:2318
- Joubert syndrome with hepatic defect ORPHA:1454
- X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome ORPHA:1568
- Orofaciodigital syndrome type 6 ORPHA:2754
- Hoyeraal-Hreidarsson syndrome ORPHA:3322
- PHACE syndrome ORPHA:42775
- Lhermitte-Duclos disease ORPHA:65285
- Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome ORPHA:65288
- Endosteal sclerosis-cerebellar hypoplasia syndrome ORPHA:85186
- X-linked intellectual disability-cerebellar hypoplasia syndrome ORPHA:137831
- X-linked intellectual disability, Najm type ORPHA:163937
- X-linked cerebral-cerebellar-coloboma syndrome ORPHA:163961
- Joubert syndrome with ocular defect ORPHA:220493
- Joubert syndrome with renal defect ORPHA:220497
- Genetic syndrome with a Dandy-Walker malformation as a major feature ORPHA:269570
- Dandy-Walker malformation-postaxial polydactyly syndrome ORPHA:1566
- Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome ORPHA:1538
- 3C syndrome ORPHA:7
- Aase-Smith syndrome ORPHA:916
- Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome ORPHA:1970
- Cervical hypertrichosis-peripheral neuropathy syndrome ORPHA:2218
- NPHP3-related Meckel-like syndrome ORPHA:3032
- B4GALT1-CDG ORPHA:79332
- Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome ORPHA:370022
- Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome ORPHA:397709
- Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome ORPHA:401959
- Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome ORPHA:439897
- Cerebellar-facial-dental syndrome ORPHA:444072
- Polymicrogyria due to TUBB2B mutation ORPHA:300573
- NDE1-related microhydranencephaly ORPHA:443162
- Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome ORPHA:457284
- Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome ORPHA:529665
- EN1-related dorsoventral syndrome ORPHA:611223
- Tubulinopathy-associated dysgyria ORPHA:467166
- Port-wine nevi-mega cisterna magna-hydrocephalus syndrome ORPHA:2703
- X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome ORPHA:459070
- Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome ORPHA:466688
- SLC39A8-CDG ORPHA:468699
- Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature ORPHA:269573
- Micro syndrome ORPHA:2510
- Microlissencephaly ORPHA:1083
- Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ORPHA:83473
- Aicardi syndrome ORPHA:50
- Acrocallosal syndrome ORPHA:36
- Corpus callosum agenesis-neuronopathy syndrome ORPHA:1496
- Vici syndrome ORPHA:1493
- Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome ORPHA:1495
- Temtamy syndrome ORPHA:1777
- Toriello-Carey syndrome ORPHA:3338
- Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome ORPHA:52055
- Microcephaly-polymicrogyria-corpus callosum agenesis syndrome ORPHA:171703
- L1 syndrome ORPHA:275543
- Hydrocephalus with stenosis of the aqueduct of Sylvius ORPHA:2182
- MASA syndrome ORPHA:2466
- X-linked complicated corpus callosum dysgenesis ORPHA:1497
- X-linked complicated spastic paraplegia type 1 ORPHA:306617
- ARX-related encephalopathy-brain malformation spectrum ORPHA:423655
- Corpus callosum agenesis-abnormal genitalia syndrome ORPHA:2508
- X-linked lissencephaly with abnormal genitalia ORPHA:452
- Tubulinopathy-associated dysgyria ORPHA:467166
- Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome ORPHA:466688
- Corpus callosum agenesis-macrocephaly-hypertelorism syndrome ORPHA:459074
- Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome ORPHA:447893
- Porencephaly-microcephaly-bilateral congenital cataract syndrome ORPHA:306547
- Cataract-congenital heart disease-neural tube defect syndrome ORPHA:314993
- SLC35A2-CDG ORPHA:356961
- Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome ORPHA:444069
- Lethal hydranencephaly-diaphragmatic hernia syndrome ORPHA:480528
- Hydrocephaly-low insertion umbilicus syndrome ORPHA:2184
- Hartsfield syndrome ORPHA:2117
- Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome ORPHA:500135
- Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome ORPHA:500144
- Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome ORPHA:500150
- Thoracic dysplasia-hydrocephalus syndrome ORPHA:1861
- TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome ORPHA:592570
- KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome ORPHA:610569
- Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome ORPHA:603448
- Rare genetic headache ORPHA:183509
- Rare genetic epilepsy ORPHA:183512
- Metabolic diseases with epilepsy ORPHA:166481
- Lysosomal disease with epilepsy ORPHA:225681
- Aspartylglucosaminuria ORPHA:93
- Mucolipidosis type IV ORPHA:578
- Free sialic acid storage disease ORPHA:834
- Free sialic acid storage disease, infantile form ORPHA:309324
- Intermediate severe Salla disease ORPHA:309331
- Salla disease ORPHA:309334
- Neuronal ceroid lipofuscinosis ORPHA:216
- Progressive epilepsy-intellectual disability syndrome, Finnish type ORPHA:1947
- CLN1 disease ORPHA:228329
- CLN2 disease ORPHA:228349
- CLN3 disease ORPHA:228346
- CLN4 disease ORPHA:228343
- CLN12 disease ORPHA:314632
- CLN11 disease ORPHA:314629
- CLN5 disease ORPHA:228360
- CLN6 disease ORPHA:228363
- CLN7 disease ORPHA:228366
- CLN8 disease ORPHA:228354
- CLN13 disease ORPHA:352709
- CLN10 disease ORPHA:228337
- Mucopolysaccharidosis type 3 ORPHA:581
- Sanfilippo syndrome type A ORPHA:79269
- Sanfilippo syndrome type B ORPHA:79270
- Sanfilippo syndrome type C ORPHA:79271
- Sanfilippo syndrome type D ORPHA:79272
- Alpha-N-acetylgalactosaminidase deficiency ORPHA:3137
- Alpha-N-acetylgalactosaminidase deficiency type 1 ORPHA:79279
- Alpha-N-acetylgalactosaminidase deficiency type 2 ORPHA:79280
- Alpha-N-acetylgalactosaminidase deficiency type 3 ORPHA:79281
- Sphingolipidosis with epilepsy ORPHA:371442
- Krabbe disease ORPHA:487
- Late-infantile/juvenile Krabbe disease ORPHA:206443
- Adult Krabbe disease ORPHA:206448
- Infantile Krabbe disease ORPHA:206436
- Fabry disease ORPHA:324
- Niemann-Pick disease type C ORPHA:646
- Niemann-Pick disease type C, severe perinatal form ORPHA:216972
- Niemann-Pick disease type C, severe early infantile neurologic onset ORPHA:216975
- Niemann-Pick disease type C, late infantile neurologic onset ORPHA:216978
- Niemann-Pick disease type C, juvenile neurologic onset ORPHA:216981
- Niemann-Pick disease type C, adult neurologic onset ORPHA:216986
- Encephalopathy due to prosaposin deficiency ORPHA:139406
- Infantile neurovisceral acid sphingomyelinase deficiency ORPHA:77292
- Gaucher disease type 2 ORPHA:77260
- Multiple sulfatase deficiency ORPHA:585
- Farber disease ORPHA:333
- Metachromatic leukodystrophy ORPHA:512
- Metachromatic leukodystrophy, late infantile form ORPHA:309256
- Metachromatic leukodystrophy, juvenile form ORPHA:309263
- Metachromatic leukodystrophy, adult form ORPHA:309271
- Gangliosidosis ORPHA:309144
- GM1 gangliosidosis ORPHA:354
- GM1 gangliosidosis type 1 ORPHA:79255
- GM1 gangliosidosis type 2 ORPHA:79256
- GM1 gangliosidosis type 3 ORPHA:79257
- GM2 gangliosidosis ORPHA:309152
- Sandhoff disease ORPHA:796
- Sandhoff disease, infantile form ORPHA:309155
- Sandhoff disease, juvenile form ORPHA:309162
- Sandhoff disease, adult form ORPHA:309169
- Tay-Sachs disease ORPHA:845
- Tay-Sachs disease, infantile form ORPHA:309178
- Tay-Sachs disease, juvenile form ORPHA:309185
- Tay-Sachs disease, adult form ORPHA:309192
- GM2 gangliosidosis, AB variant ORPHA:309246
- Gaucher disease type 3 ORPHA:77261
- Peroxisomal disease with epilepsy ORPHA:225686
- Fatty acyl-CoA reductase 1 deficiency ORPHA:438178
- Neonatal adrenoleukodystrophy ORPHA:44
- X-linked adrenoleukodystrophy ORPHA:43
- Zellweger syndrome ORPHA:912
- Rhizomelic chondrodysplasia punctata ORPHA:177
- Rhizomelic chondrodysplasia punctata type 3 ORPHA:309803
- Rhizomelic chondrodysplasia punctata type 1 ORPHA:309789
- Rhizomelic chondrodysplasia punctata type 2 ORPHA:309796
- Rhizomelic chondrodysplasia punctata type 5 ORPHA:468717
- Peroxisomal acyl-CoA oxidase deficiency ORPHA:2971
- Infantile Refsum disease ORPHA:772
- Amino acid or protein metabolism disease with epilepsy ORPHA:225689
- 2-methylbutyryl-CoA dehydrogenase deficiency ORPHA:79157
- Canavan disease ORPHA:141
- Phenylketonuria ORPHA:716
- Mild phenylketonuria ORPHA:79253
- Classic phenylketonuria ORPHA:79254
- Mild hyperphenylalaninemia ORPHA:79651
- Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria ORPHA:293284
- Hyperprolinemia type 2 ORPHA:79101
- Homocystinuria due to cystathionine beta-synthase deficiency ORPHA:394
- Hyperprolinemia type 1 ORPHA:419
- Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency ORPHA:308410
- Hyper-beta-alaninemia ORPHA:309147
- 3-methylglutaconic aciduria type 9 ORPHA:505216
- Glycine encephalopathy ORPHA:407
- Neonatal glycine encephalopathy ORPHA:289857
- Infantile glycine encephalopathy ORPHA:289860
- Atypical glycine encephalopathy ORPHA:289863
- Encephalopathy due to sulfite oxidase deficiency ORPHA:833
- Isolated sulfite oxidase deficiency ORPHA:99731
- Sulfite oxidase deficiency due to molybdenum cofactor deficiency ORPHA:99732
- 2-hydroxyglutaric aciduria ORPHA:19
- L-2-hydroxyglutaric aciduria ORPHA:79314
- D-2-hydroxyglutaric aciduria ORPHA:79315
- D,L-2-hydroxyglutaric aciduria ORPHA:356978
- Neonatal epileptic encephalopathy due to glutaminase deficiency ORPHA:557064
- Metal transport or utilization disorder with epilepsy ORPHA:225692
- Energy metabolism disorder with epilepsy ORPHA:225696
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency ORPHA:71212
- Triose phosphate-isomerase deficiency ORPHA:868
- Mitochondrial disease with epilepsy ORPHA:225700
- Kearns-Sayre syndrome ORPHA:480
- MELAS ORPHA:550
- MERRF ORPHA:551
- NARP syndrome ORPHA:644
- Isolated complex I deficiency ORPHA:2609
- Leigh syndrome ORPHA:506
- Alpers-Huttenlocher syndrome ORPHA:726
- Fumaric aciduria ORPHA:24
- Mitochondrial neurogastrointestinal encephalomyopathy ORPHA:298
- Coenzyme Q10 deficiency ORPHA:35656
- Ataxia-oculomotor apraxia type 1 ORPHA:1168
- Autosomal recessive ataxia due to ubiquinone deficiency ORPHA:139485
- Deafness-encephaloneuropathy-obesity-valvulopathy syndrome ORPHA:254898
- Familial steroid-resistant nephrotic syndrome with sensorineural deafness ORPHA:280406
- Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome ORPHA:319678
- Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ORPHA:457185
- COQ7-related distal hereditary motor neuropathy ORPHA:658778
- Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome ORPHA:70595
- MEHMO syndrome ORPHA:85282
- Lipoic acid synthetase deficiency ORPHA:401859
- Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type ORPHA:70472
- Lipoyl transferase 2 deficiency ORPHA:447795
- Oxoglutaric aciduria ORPHA:31
- Pyruvate dehydrogenase deficiency ORPHA:765
- Pyruvate dehydrogenase E3 deficiency ORPHA:2394
- Pyruvate dehydrogenase E1-alpha deficiency ORPHA:79243
- Pyruvate dehydrogenase E2 deficiency ORPHA:79244
- Pyruvate dehydrogenase phosphatase deficiency ORPHA:79246
- Pyruvate dehydrogenase E1-beta deficiency ORPHA:255138
- Pyruvate dehydrogenase E3-binding protein deficiency ORPHA:255182
- Glutaric acidemia type 3 ORPHA:35706
- Creatine deficiency syndrome ORPHA:79172
- Metabolic neurotransmission anomaly with epilepsy ORPHA:225707
- Succinic semialdehyde dehydrogenase deficiency ORPHA:22
- Pyridoxine-dependent-developmental and epileptic encephalopathy ORPHA:3006
- Gamma-aminobutyric acid transaminase deficiency ORPHA:2066
- Beta-ureidopropionase deficiency ORPHA:65287
- Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy ORPHA:79096
- Metabolic disease involving other neurotransmitter deficiency ORPHA:79219
- Hereditary hyperekplexia ORPHA:3197
- Hereditary butyrylcholinesterase deficiency ORPHA:132
- Folinic acid-responsive seizures ORPHA:79097
- Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome ORPHA:675775
- Sterol metabolism disorder with epilepsy ORPHA:225710
- Other metabolic disease with epilepsy ORPHA:225713
- Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome ORPHA:480864
- Adenylosuccinate lyase deficiency ORPHA:46
- Homocystinuria due to methylene tetrahydrofolate reductase deficiency ORPHA:395
- Choreoacanthocytosis ORPHA:2388
- McLeod neuroacanthocytosis syndrome ORPHA:59306
- Classic glucose transporter type 1 deficiency syndrome ORPHA:71277
- Neurodegenerative syndrome due to cerebral folate transport deficiency ORPHA:217382
- ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement ORPHA:457375
- Constitutional megaloblastic anemia with severe neurologic disease ORPHA:319651
- MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome ORPHA:597874
- Congenital disorder of glycosylation with epilepsy as a major feature ORPHA:371071
- DPM1-CDG ORPHA:79322
- MPDU1-CDG ORPHA:79323
- ALG2-CDG ORPHA:79326
- ALG1-CDG ORPHA:79327
- ALG9-CDG ORPHA:79328
- MOGS-CDG ORPHA:79330
- COG7-CDG ORPHA:79333
- Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency ORPHA:83639
- DPAGT1-CDG ORPHA:86309
- COG8-CDG ORPHA:95428
- Leukocyte adhesion deficiency type II ORPHA:99843
- SLC35A1-CDG ORPHA:238459
- RFT1-CDG ORPHA:244310
- COG4-CDG ORPHA:263501
- ALG11-CDG ORPHA:280071
- Multiple congenital anomalies-hypotonia-seizures syndrome ORPHA:280633
- Multiple congenital anomalies-hypotonia-seizures syndrome type 2 ORPHA:300496
- ALG13-CDG ORPHA:324422
- Congenital muscular dystrophy with intellectual disability and severe epilepsy ORPHA:329178
- SLC35A2-CDG ORPHA:356961
- Autosomal recessive cutis laxa type 2A ORPHA:357058
- STT3A-CDG ORPHA:370921
- STT3B-CDG ORPHA:370924
- SSR4-CDG ORPHA:370927
- GM3 synthase deficiency ORPHA:370933
- Autism spectrum disorder-epilepsy-arthrogryposis syndrome ORPHA:370943
- CHIME syndrome ORPHA:3474
- Congenital muscular dystrophy, Fukuyama type ORPHA:272
- Walker-Warburg syndrome ORPHA:899
- Muscle-eye-brain disease ORPHA:588
- PMM2-CDG ORPHA:79318
- ALG6-CDG ORPHA:79320
- ALG3-CDG ORPHA:79321
- Early-onset epilepsy-intellectual disability-brain anomalies syndrome ORPHA:488635
- Seizures-scoliosis-macrocephaly syndrome ORPHA:466926
- DEND syndrome ORPHA:79134
- Chromosomal anomaly with epilepsy as a major feature ORPHA:166469
- Fragile X syndrome ORPHA:908
- Wolf-Hirschhorn syndrome ORPHA:280
- Pallister-Killian syndrome ORPHA:884
- Ring chromosome 20 syndrome ORPHA:1444
- Inverted duplicated chromosome 15 syndrome ORPHA:3306
- Ring chromosome 14 syndrome ORPHA:1440
- 1p36 deletion syndrome ORPHA:1606
- Miller-Dieker syndrome ORPHA:531
- Microduplication Xp11.22p11.23 syndrome ORPHA:217377
- 5q14.3 microdeletion syndrome ORPHA:228384
- Angelman syndrome ORPHA:72
- Angelman syndrome due to maternal 15q11q13 deletion ORPHA:98794
- Angelman syndrome due to paternal uniparental disomy of chromosome 15 ORPHA:98795
- Angelman syndrome due to a point mutation ORPHA:411511
- Angelman syndrome due to imprinting defect in 15q11-q13 ORPHA:411515
- 15q13.3 microdeletion syndrome ORPHA:199318
- Kleefstra syndrome due to 9q34 microdeletion ORPHA:96147
- 9q33.3q34.11 microdeletion syndrome ORPHA:495818
- 2q23.1 microdeletion syndrome ORPHA:228402
- Mowat-Wilson syndrome due to monosomy 2q22 ORPHA:261537
- Epilepsy syndrome ORPHA:166463
- Epileptic encephalopathy with global cerebral demyelination ORPHA:353217
- Infantile spasms-broad thumbs syndrome ORPHA:3173
- Epilepsy-telangiectasia syndrome ORPHA:1951
- Early-onset progressive encephalopathy with migrant continuous myoclonus ORPHA:1943
- Moynahan syndrome ORPHA:2574
- W syndrome ORPHA:2804
- PEHO syndrome ORPHA:2836
- Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome ORPHA:1192
- Myoclonic epilepsy in non-progressive encephalopathies ORPHA:86913
- Benign partial infantile seizures ORPHA:166311
- Familial or sporadic hemiplegic migraine ORPHA:569
- Infantile convulsions and choreoathetosis ORPHA:31709
- Benign infantile focal epilepsy with midline spikes and waves during sleep ORPHA:166308
- Childhood-onset epilepsy syndrome ORPHA:98259
- Hot water reflex epilepsy ORPHA:166412
- Lennox-Gastaut syndrome ORPHA:2382
- Epilepsy with myoclonic-atonic seizures ORPHA:1942
- Familial partial epilepsy ORPHA:309
- Juvenile absence epilepsy ORPHA:1941
- Juvenile myoclonic epilepsy ORPHA:307
- Self-limited epilepsy with centrotemporal spikes ORPHA:1945
- Genetic epilepsy with febrile seizure plus ORPHA:36387
- Childhood absence epilepsy ORPHA:64280
- Generalized epilepsy-paroxysmal dyskinesia syndrome ORPHA:79137
- Sleep-related hypermotor epilepsy ORPHA:98784
- Familial temporal lobe epilepsy ORPHA:98819
- Familial focal epilepsy with variable foci ORPHA:98820
- Mesial temporal lobe epilepsy with hippocampal sclerosis ORPHA:99701
- Epilepsy with auditory features ORPHA:101046
- Familial mesial temporal lobe epilepsy ORPHA:163717
- Familial mesial temporal lobe epilepsy with febrile seizures ORPHA:165805
- Developmental and epileptic encephalopathy with spike-wave activation in sleep ORPHA:725
- Self-limited childhood occipital epilepsy ORPHA:25968
- Self-limited epilepsy with autonomic seizures ORPHA:98815
- Childhood occipital visual epilepsy ORPHA:98816
- Progressive myoclonic epilepsy ORPHA:98261
- MERRF ORPHA:551
- Lafora disease ORPHA:501
- Progressive myoclonic epilepsy type 1 ORPHA:308
- Progressive epilepsy-intellectual disability syndrome, Finnish type ORPHA:1947
- CLN3 disease ORPHA:228346
- CLN4 disease ORPHA:228343
- CLN5 disease ORPHA:228360
- Familial encephalopathy with neuroserpin inclusion bodies ORPHA:85110
- Progressive dementia with neuroserpin inclusion bodies ORPHA:530303
- Progressive myoclonic epilepsy with neuroserpin inclusion bodies ORPHA:530298
- CLN1 disease ORPHA:228329
- CLN2 disease ORPHA:228349
- Progressive myoclonic epilepsy type 6 ORPHA:280620
- PRDM8-related progressive myoclonus epilepsy ORPHA:324290
- Progressive myoclonic epilepsy type 5 ORPHA:402082
- Progressive myoclonic epilepsy type 8 ORPHA:424027
- Progressive myoclonic epilepsy type 7 ORPHA:435438
- CLN6 disease ORPHA:228363
- CLN7 disease ORPHA:228366
- CLN8 disease ORPHA:228354
- CLN10 disease ORPHA:228337
- CLN13 disease ORPHA:352709
- Progressive myoclonic epilepsy type 3 ORPHA:263516
- Progressive myoclonic epilepsy type 9 ORPHA:457265
- CLN11 disease ORPHA:314629
- Spinal muscular atrophy-progressive myoclonic epilepsy syndrome ORPHA:2590
- Landau-Kleffner syndrome ORPHA:98818
- Cryptogenic late-onset epileptic spasms ORPHA:163708
- Rolandic epilepsy-speech dyspraxia syndrome ORPHA:163721
- Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome ORPHA:163727
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation ORPHA:289266
- Epilepsy with myoclonic absences ORPHA:86911
- Adolescent-onset epilepsy syndrome ORPHA:98260
- Familial partial epilepsy ORPHA:309
- Juvenile absence epilepsy ORPHA:1941
- Juvenile myoclonic epilepsy ORPHA:307
- Self-limited epilepsy with centrotemporal spikes ORPHA:1945
- Genetic epilepsy with febrile seizure plus ORPHA:36387
- Childhood absence epilepsy ORPHA:64280
- Generalized epilepsy-paroxysmal dyskinesia syndrome ORPHA:79137
- Sleep-related hypermotor epilepsy ORPHA:98784
- Familial temporal lobe epilepsy ORPHA:98819
- Familial focal epilepsy with variable foci ORPHA:98820
- Mesial temporal lobe epilepsy with hippocampal sclerosis ORPHA:99701
- Epilepsy with auditory features ORPHA:101046
- Familial mesial temporal lobe epilepsy ORPHA:163717
- Familial mesial temporal lobe epilepsy with febrile seizures ORPHA:165805
- Familial adult myoclonic epilepsy ORPHA:86814
- Progressive myoclonic epilepsy ORPHA:98261
- MERRF ORPHA:551
- Lafora disease ORPHA:501
- Progressive myoclonic epilepsy type 1 ORPHA:308
- Progressive epilepsy-intellectual disability syndrome, Finnish type ORPHA:1947
- CLN3 disease ORPHA:228346
- CLN4 disease ORPHA:228343
- CLN5 disease ORPHA:228360
- Familial encephalopathy with neuroserpin inclusion bodies ORPHA:85110
- Progressive dementia with neuroserpin inclusion bodies ORPHA:530303
- Progressive myoclonic epilepsy with neuroserpin inclusion bodies ORPHA:530298
- CLN1 disease ORPHA:228329
- CLN2 disease ORPHA:228349
- Progressive myoclonic epilepsy type 6 ORPHA:280620
- PRDM8-related progressive myoclonus epilepsy ORPHA:324290
- Progressive myoclonic epilepsy type 5 ORPHA:402082
- Progressive myoclonic epilepsy type 8 ORPHA:424027
- Progressive myoclonic epilepsy type 7 ORPHA:435438
- CLN6 disease ORPHA:228363
- CLN7 disease ORPHA:228366
- CLN8 disease ORPHA:228354
- CLN10 disease ORPHA:228337
- CLN13 disease ORPHA:352709
- Progressive myoclonic epilepsy type 3 ORPHA:263516
- Progressive myoclonic epilepsy type 9 ORPHA:457265
- CLN11 disease ORPHA:314629
- Spinal muscular atrophy-progressive myoclonic epilepsy syndrome ORPHA:2590
- PEHO-like syndrome ORPHA:99807
- CNTNAP2-related developmental and epileptic encephalopathy ORPHA:163681
- Action myoclonus-renal failure syndrome ORPHA:163696
- Intermediate DEND syndrome ORPHA:99989
- STXBP1-related encephalopathy ORPHA:599373
- Neonatal-infantile onset epilepsy syndrome ORPHA:693802
- Early infantile developmental and epileptic encephalopathy ORPHA:1934
- Self-limited neonatal epilepsy ORPHA:1949
- MECP2-related severe neonatal encephalopathy ORPHA:209370
- Epilepsy of infancy with migrating focal seizures ORPHA:293181
- Dravet syndrome ORPHA:33069
- Genetic epilepsy with febrile seizure plus ORPHA:36387
- Myoclonic epilepsy of infancy ORPHA:86909
- SYNGAP1-related developmental and epileptic encephalopathy ORPHA:544254
- Classic glucose transporter type 1 deficiency syndrome ORPHA:71277
- Sturge-Weber syndrome ORPHA:3205
- Pyridoxine-dependent-developmental and epileptic encephalopathy ORPHA:3006
- Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy ORPHA:79096
- Gelastic seizures with hypothalamic hamartoma ORPHA:86906
- KCNQ2-related developmental and epileptic encephalopathy ORPHA:439218
- Self-limited infantile epilepsy ORPHA:306
- Self-limited neonatal-infantile epilepsy ORPHA:140927
- Neurocutaneous syndrome with epilepsy ORPHA:166466
- Neurofibromatosis type 1 ORPHA:636
- 17q11 microdeletion syndrome ORPHA:97685
- Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion ORPHA:363700
- Incontinentia pigmenti ORPHA:464
- Proteus syndrome ORPHA:744
- Sturge-Weber syndrome ORPHA:3205
- Tuberous sclerosis complex ORPHA:805
- Neuroectodermal melanolysosomal disease ORPHA:33445
- Monogenic disease with epilepsy ORPHA:166472
- PUM1-associated developmental disability-ataxia-seizure syndrome ORPHA:589515
- Autosomal dominant hypocalcemia ORPHA:428
- Rett syndrome ORPHA:778
- Progressive epilepsy-intellectual disability syndrome, Finnish type ORPHA:1947
- X-linked intellectual disability-epilepsy syndrome ORPHA:2076
- X-linked intellectual disability, Hedera type ORPHA:93952
- Female restricted epilepsy with intellectual disability ORPHA:101039
- Hyperekplexia-epilepsy syndrome ORPHA:163985
- Atypical Rett syndrome ORPHA:3095
- KDM5C-related syndromic X-linked intellectual disability ORPHA:85279
- X-linked epilepsy-learning disabilities-behavior disorders syndrome ORPHA:85294
- ARX-related epileptic encephalopathy ORPHA:182079
- Early infantile developmental and epileptic encephalopathy ORPHA:1934
- X-linked spasticity-intellectual disability-epilepsy syndrome ORPHA:3175
- Partington syndrome ORPHA:94083
- Infantile epileptic-dyskinetic encephalopathy ORPHA:364063
- ARX-related encephalopathy-brain malformation spectrum ORPHA:423655
- Channelopathy with epilepsy ORPHA:182083
- Dravet syndrome ORPHA:33069
- EAST syndrome ORPHA:199343
- Epilepsy of infancy with migrating focal seizures ORPHA:293181
- Early infantile developmental and epileptic encephalopathy ORPHA:1934
- Familial partial epilepsy ORPHA:309
- Juvenile absence epilepsy ORPHA:1941
- Juvenile myoclonic epilepsy ORPHA:307
- Self-limited epilepsy with centrotemporal spikes ORPHA:1945
- Genetic epilepsy with febrile seizure plus ORPHA:36387
- Childhood absence epilepsy ORPHA:64280
- Generalized epilepsy-paroxysmal dyskinesia syndrome ORPHA:79137
- Sleep-related hypermotor epilepsy ORPHA:98784
- Familial temporal lobe epilepsy ORPHA:98819
- Familial focal epilepsy with variable foci ORPHA:98820
- Mesial temporal lobe epilepsy with hippocampal sclerosis ORPHA:99701
- Epilepsy with auditory features ORPHA:101046
- Familial mesial temporal lobe epilepsy ORPHA:163717
- Familial mesial temporal lobe epilepsy with febrile seizures ORPHA:165805
- Thiamine-responsive encephalopathy ORPHA:199348
- MECP2-related severe neonatal encephalopathy ORPHA:209370
- Familial infantile myoclonic epilepsy ORPHA:352582
- Focal epilepsy-intellectual disability-cerebro-cerebellar malformation ORPHA:352587
- Progressive myoclonic epilepsy with dystonia ORPHA:352596
- Borjeson-Forssman-Lehmann syndrome ORPHA:127
- Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression ORPHA:391316
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome ORPHA:404481
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency ORPHA:284282
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency ORPHA:404493
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency ORPHA:404499
- Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome ORPHA:411986
- Lethal neonatal spasticity-epileptic encephalopathy syndrome ORPHA:435845
- Non-specific early-onset epileptic encephalopathy ORPHA:442835
- RNF13-related severe early-onset epileptic encephalopathy ORPHA:544503
- Craniosynostosis-microretrognathia-severe intellectual disability syndrome ORPHA:565858
- FOXG1 syndrome ORPHA:561854
- FOXG1 syndrome due to intragenic alteration ORPHA:598164
- FOXG1 syndrome due to 14q12 microdeletion ORPHA:261144
- Primary hypomagnesemia-refractory seizures-intellectual disability syndrome ORPHA:564178
- Spastic paraplegia-severe developmental delay-epilepsy syndrome ORPHA:464282
- Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ORPHA:496641
- Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract ORPHA:500545
- Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome ORPHA:500533
- CDKL5-deficiency disorder ORPHA:505652
- Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome ORPHA:505237
- Episodic ataxia type 1 ORPHA:37612
- Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome ORPHA:488613
- Mowat-Wilson syndrome ORPHA:2152
- Mowat-Wilson syndrome due to monosomy 2q22 ORPHA:261537
- Mowat-Wilson syndrome due to a ZEB2 point mutation ORPHA:261552
- Pitt-Hopkins syndrome ORPHA:2896
- Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome ORPHA:397933
- Rare non-syndromic intellectual disability ORPHA:101685
- X-linked non-syndromic intellectual disability ORPHA:777
- Autosomal recessive non-syndromic intellectual disability ORPHA:88616
- Autosomal dominant non-syndromic intellectual disability ORPHA:178469
- GNAO1-related developmental delay-seizures-movement disorder spectrum ORPHA:592564
- Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome ORPHA:684232
- Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome ORPHA:684240
- NESCAV syndrome ORPHA:662367
- Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome ORPHA:684216
- Poirier-Bienvenue neurodevelopmental syndrome ORPHA:689397
- Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes ORPHA:166475
- Familial partial epilepsy ORPHA:309
- Juvenile absence epilepsy ORPHA:1941
- Juvenile myoclonic epilepsy ORPHA:307
- Self-limited epilepsy with centrotemporal spikes ORPHA:1945
- Genetic epilepsy with febrile seizure plus ORPHA:36387
- Childhood absence epilepsy ORPHA:64280
- Generalized epilepsy-paroxysmal dyskinesia syndrome ORPHA:79137
- Sleep-related hypermotor epilepsy ORPHA:98784
- Familial temporal lobe epilepsy ORPHA:98819
- Familial focal epilepsy with variable foci ORPHA:98820
- Mesial temporal lobe epilepsy with hippocampal sclerosis ORPHA:99701
- Epilepsy with auditory features ORPHA:101046
- Familial mesial temporal lobe epilepsy ORPHA:163717
- Familial mesial temporal lobe epilepsy with febrile seizures ORPHA:165805
- Self-limited infantile epilepsy ORPHA:306
- Self-limited neonatal-infantile epilepsy ORPHA:140927
- Cerebral malformation with epilepsy ORPHA:166478
- Oculocerebrocutaneous syndrome ORPHA:1647
- Aicardi syndrome ORPHA:50
- Holoprosencephaly ORPHA:2162
- Lobar holoprosencephaly ORPHA:93924
- Alobar holoprosencephaly ORPHA:93925
- Midline interhemispheric variant of holoprosencephaly ORPHA:93926
- Semilobar holoprosencephaly ORPHA:220386
- Septopreoptic holoprosencephaly ORPHA:280195
- Schizencephaly ORPHA:799
- Porencephaly ORPHA:2940
- Lissencephaly ORPHA:48471
- Microlissencephaly ORPHA:1083
- Cobblestone lissencephaly ORPHA:51577
- Cobblestone lissencephaly without muscular or ocular involvement ORPHA:352682
- Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies ORPHA:352687
- Lissencephaly with cerebellar hypoplasia ORPHA:86823
- Lissencephaly with cerebellar hypoplasia type A ORPHA:100011
- Lissencephaly with cerebellar hypoplasia type B ORPHA:100012
- Lissencephaly with cerebellar hypoplasia type C ORPHA:100013
- Lissencephaly with cerebellar hypoplasia type D ORPHA:100014
- Lissencephaly with cerebellar hypoplasia type E ORPHA:100015
- Lissencephaly with cerebellar hypoplasia type F ORPHA:100016
- Classic lissencephaly ORPHA:102009
- Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome ORPHA:572013
- Lissencephaly type 1 due to doublecortin gene mutation ORPHA:2148
- Miller-Dieker syndrome ORPHA:531
- Isolated lissencephaly type 1 without known genetic defects ORPHA:1084
- Lissencephaly due to LIS1 mutation ORPHA:95232
- Other syndrome with lissencephaly as a major feature ORPHA:102010
- Craniotelencephalic dysplasia ORPHA:1528
- Micro syndrome ORPHA:2510
- Baraitser-Winter cerebrofrontofacial syndrome ORPHA:2995
- X-linked lissencephaly with abnormal genitalia ORPHA:452
- Lissencephaly type 3 ORPHA:102011
- Neu-Laxova syndrome ORPHA:2671
- Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency ORPHA:583602
- Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency ORPHA:583607
- Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency ORPHA:583612
- Lissencephaly type 3-familial fetal akinesia sequence syndrome ORPHA:86821
- Lissencephaly type 3-metacarpal bone dysplasia syndrome ORPHA:86822
- Lissencephaly due to TUBA1A mutation ORPHA:171680
- Microlissencephaly-micromelia syndrome ORPHA:50810
- Gelastic seizures with hypothalamic hamartoma ORPHA:86906
- Hemimegalencephaly ORPHA:99802
- Non-syndromic cerebral malformation due to abnormal neuronal migration ORPHA:163209
- Nodular neuronal heterotopia ORPHA:2149
- Periventricular nodular heterotopia ORPHA:98892
- Sub-cortical nodular heterotopia ORPHA:101029
- Subependymal nodular heterotopia ORPHA:101030
- Polymicrogyria ORPHA:35981
- Bilateral polymicrogyria ORPHA:268940
- Bilateral perisylvian polymicrogyria ORPHA:98889
- Bilateral frontoparietal polymicrogyria ORPHA:101070
- Bilateral parasagittal parieto-occipital polymicrogyria ORPHA:208441
- Bilateral frontal polymicrogyria ORPHA:208444
- Bilateral generalized polymicrogyria ORPHA:208447
- Unilateral polymicrogyria ORPHA:268943
- Subcortical band heterotopia ORPHA:99796
- Cerebral cortical dysplasia ORPHA:268950
- Isolated focal cortical dysplasia ORPHA:65683
- Occipital pachygyria and polymicrogyria ORPHA:280640
- Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation ORPHA:300570
- Autosomal recessive frontotemporal pachygyria ORPHA:329329
- Pachygyria-intellectual disability-epilepsy syndrome ORPHA:2798
- Polymicrogyria with optic nerve hypoplasia ORPHA:250972
- Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome ORPHA:306558
- Focal epilepsy-intellectual disability-cerebro-cerebellar malformation ORPHA:352587
- Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome ORPHA:401959
- Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome ORPHA:404437
- X-linked intellectual disability-cerebellar hypoplasia syndrome ORPHA:137831
- Christianson syndrome ORPHA:85278
- Non-syndromic pontocerebellar hypoplasia ORPHA:98523
- Pontocerebellar hypoplasia type 2 ORPHA:2524
- Pontocerebellar hypoplasia type 1 ORPHA:2254
- Pontocerebellar hypoplasia type 3 ORPHA:97249
- Pontocerebellar hypoplasia type 4 ORPHA:166063
- Pontocerebellar hypoplasia type 6 ORPHA:166073
- Pontocerebellar hypoplasia type 7 ORPHA:284339
- Pontocerebellar hypoplasia type 8 ORPHA:324569
- Pontocerebellar hypoplasia type 9 ORPHA:369920
- Pontocerebellar hypoplasia type 10 ORPHA:411493
- Pontocerebellar hypoplasia type 12 ORPHA:611256
- Pontocerebellar hypoplasia type 11 ORPHA:611247
- Pontocerebellar hypoplasia type 13 ORPHA:613267
- Pontocerebellar hypoplasia type 14 ORPHA:613274
- Cerebral diseases of vascular origin with epilepsy ORPHA:166487
- Rare genetic medullar disease ORPHA:183515
- Primary basilar invagination ORPHA:2285
- Ataxia-pancytopenia syndrome ORPHA:2585
- Familial syringomyelia ORPHA:370034
- Hereditary ataxia ORPHA:183518
- Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome ORPHA:502423
- Autosomal dominant cerebellar ataxia ORPHA:99
- Autosomal dominant cerebellar ataxia type I ORPHA:94145
- Spinocerebellar ataxia type 19/22 ORPHA:98772
- Spinocerebellar ataxia type 21 ORPHA:98773
- Spinocerebellar ataxia type 23 ORPHA:101108
- Spinocerebellar ataxia type 28 ORPHA:101109
- Spinocerebellar ataxia type 20 ORPHA:101110
- Spinocerebellar ataxia type 25 ORPHA:101111
- Spinocerebellar ataxia type 29 ORPHA:208513
- Spinocerebellar ataxia type 32 ORPHA:276183
- Spinocerebellar ataxia type 35 ORPHA:276193
- Spinocerebellar ataxia type 36 ORPHA:276198
- Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome ORPHA:314404
- Non-progressive cerebellar ataxia with intellectual disability ORPHA:314647
- Spinocerebellar ataxia type 37 ORPHA:363710
- Spinocerebellar ataxia type 40 ORPHA:423275
- Spinocerebellar ataxia type 34 ORPHA:1955
- Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome ORPHA:1171
- Spinocerebellar ataxia type 1 ORPHA:98755
- Spinocerebellar ataxia type 2 ORPHA:98756
- Spinocerebellar ataxia type 3 ORPHA:98757
- Machado-Joseph disease type 1 ORPHA:276238
- Machado-Joseph disease type 2 ORPHA:276241
- Machado-Joseph disease type 3 ORPHA:276244
- Spinocerebellar ataxia type 17 ORPHA:98759
- Spinocerebellar ataxia type 8 ORPHA:98760
- Spinocerebellar ataxia type 12 ORPHA:98762
- Spinocerebellar ataxia type 14 ORPHA:98763
- Spinocerebellar ataxia type 27A ORPHA:98764
- Spinocerebellar ataxia type 4 ORPHA:98765
- Spinocerebellar ataxia type 13 ORPHA:98768
- Spinocerebellar ataxia type 15/16 ORPHA:98769
- Spinocerebellar ataxia type 18 ORPHA:98771
- Spinocerebellar ataxia type 43 ORPHA:497764
- PUM1-associated developmental disability-ataxia-seizure syndrome ORPHA:589515
- Spinocerebellar ataxia type 46 ORPHA:589522
- Spinocerebellar ataxia type 48 ORPHA:631103
- Spinocerebellar ataxia type 27B ORPHA:675216
- Spinocerebellar ataxia type 49 ORPHA:631106
- Autosomal dominant cerebellar ataxia type III ORPHA:94148
- Spinocerebellar ataxia type 45 ORPHA:589527
- Spinocerebellar ataxia type 44 ORPHA:631095
- Spinocerebellar ataxia type 6 ORPHA:98758
- Spinocerebellar ataxia type 5 ORPHA:98766
- Spinocerebellar ataxia type 11 ORPHA:98767
- Spinocerebellar ataxia type 26 ORPHA:101112
- Spinocerebellar ataxia type 30 ORPHA:211017
- Spinocerebellar ataxia type 31 ORPHA:217012
- Spinocerebellar ataxia type 38 ORPHA:423296
- Spinocerebellar ataxia type 41 ORPHA:458798
- Spinocerebellar ataxia type 42 ORPHA:458803
- Autosomal dominant cerebellar ataxia type IV ORPHA:94149
- Autosomal dominant cerebellar ataxia type II ORPHA:208508
- PUM1-related cerebellar ataxia ORPHA:642747
- Ataxia-tapetoretinal degeneration syndrome ORPHA:1178
- Cerebellar ataxia-hypogonadism syndrome ORPHA:1173
- Ataxia-hypogonadism-choroidal dystrophy syndrome ORPHA:1180
- Spinocerebellar ataxia-dysmorphism syndrome ORPHA:1185
- Cataract-ataxia-deafness syndrome ORPHA:1368
- Richards-Rundle syndrome ORPHA:1399
- Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome ORPHA:2274
- Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome ORPHA:2579
- Myoclonus-cerebellar ataxia-deafness syndrome ORPHA:2589
- Spinocerebellar degeneration-corneal dystrophy syndrome ORPHA:3177
- Autosomal recessive cerebellar ataxia ORPHA:1172
- Autosomal recessive ataxia, Beauce type ORPHA:88644
- Autosomal recessive congenital cerebellar ataxia ORPHA:98095
- Autosomal recessive cerebelloparenchymal disorder type 3 ORPHA:1170
- Dysequilibrium syndrome ORPHA:1766
- CAMOS syndrome ORPHA:83472
- Cerebellar ataxia, Cayman type ORPHA:94122
- Joubert syndrome and related disorders ORPHA:140874
- Joubert syndrome with oculorenal defect ORPHA:2318
- Joubert syndrome ORPHA:475
- Joubert syndrome with hepatic defect ORPHA:1454
- Orofaciodigital syndrome type 6 ORPHA:2754
- Joubert syndrome with ocular defect ORPHA:220493
- Joubert syndrome with renal defect ORPHA:220497
- Joubert syndrome with Jeune asphyxiating thoracic dystrophy ORPHA:397715
- Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency ORPHA:453521
- Congenital cerebellar ataxia due to RNU12 mutation ORPHA:512260
- Autosomal recessive metabolic cerebellar ataxia ORPHA:98096
- Autosomal recessive ataxia due to PEX2 deficiency ORPHA:642965
- Ataxia with vitamin E deficiency ORPHA:96
- Abetalipoproteinemia ORPHA:14
- Refsum disease ORPHA:773
- Cerebrotendinous xanthomatosis ORPHA:909
- Infantile Refsum disease ORPHA:772
- Recessive mitochondrial ataxia syndrome ORPHA:94125
- Autosomal recessive ataxia due to PEX10 deficiency ORPHA:247815
- Autosomal recessive cerebellar ataxia with late-onset spasticity ORPHA:352641
- Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome ORPHA:363429
- Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency ORPHA:324262
- Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency ORPHA:363432
- Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome ORPHA:95433
- Autosomal recessive ataxia due to PEX16 deficiency ORPHA:642954
- Autosomal recessive cerebellar ataxia due to a DNA repair defect ORPHA:98097
- Ataxia-telangiectasia ORPHA:100
- Ataxia-oculomotor apraxia type 1 ORPHA:1168
- Spinocerebellar ataxia with axonal neuropathy type 2 ORPHA:64753
- Spinocerebellar ataxia with axonal neuropathy type 1 ORPHA:94124
- Xeroderma pigmentosum-Cockayne syndrome complex ORPHA:220295
- Ataxia-telangiectasia-like disorder ORPHA:251347
- Xeroderma pigmentosum ORPHA:910
- RIDDLE syndrome ORPHA:420741
- Autosomal recessive degenerative and progressive cerebellar ataxia ORPHA:98098
- Friedreich ataxia ORPHA:95
- Early-onset cerebellar ataxia with retained tendon reflexes ORPHA:1177
- Infantile-onset spinocerebellar ataxia ORPHA:1186
- Marinesco-Sjögren syndrome ORPHA:559
- Congenital cataracts-facial dysmorphism-neuropathy syndrome ORPHA:48431
- Posterior column ataxia-retinitis pigmentosa syndrome ORPHA:88628
- Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome ORPHA:496756
- Autosomal recessive syndromic cerebellar ataxia ORPHA:98099
- Ataxia-oculomotor apraxia type 4 ORPHA:459033
- Autosomal recessive cerebellar ataxia-movement disorder syndrome ORPHA:95434
- Autosomal recessive cerebellar ataxia-psychomotor delay syndrome ORPHA:284271
- Gemignani syndrome ORPHA:2074
- Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome ORPHA:504476
- Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome ORPHA:466794
- Autosomal recessive ataxia due to ubiquinone deficiency ORPHA:139485
- Adult-onset autosomal recessive cerebellar ataxia ORPHA:284289
- Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia ORPHA:284324
- Infantile-onset autosomal recessive nonprogressive cerebellar ataxia ORPHA:284332
- Spectrin-associated autosomal recessive cerebellar ataxia ORPHA:352403
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome ORPHA:404481
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency ORPHA:284282
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency ORPHA:404493
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency ORPHA:404499
- Autosomal recessive cerebellar ataxia due to STUB1 deficiency ORPHA:412057
- Spastic paraplegia type 7 ORPHA:99013
- EAST syndrome ORPHA:199343
- Hereditary episodic ataxia ORPHA:211062
- Familial paroxysmal ataxia ORPHA:97
- Episodic ataxia type 1 ORPHA:37612
- Episodic ataxia type 3 ORPHA:79135
- Episodic ataxia type 4 ORPHA:79136
- Episodic ataxia type 6 ORPHA:209967
- Episodic ataxia type 7 ORPHA:209970
- Episodic ataxia type 5 ORPHA:211067
- Episodic ataxia with slurred speech ORPHA:401953
- X-linked cerebellar ataxia ORPHA:247765
- X-linked progressive cerebellar ataxia ORPHA:1175
- Lethal ataxia with deafness and optic atrophy ORPHA:1187
- Ataxia-deafness-intellectual disability syndrome ORPHA:1188
- X-linked sideroblastic anemia and spinocerebellar ataxia ORPHA:2802
- Christianson syndrome ORPHA:85278
- X-linked spinocerebellar ataxia type 4 ORPHA:85292
- X-linked spinocerebellar ataxia type 3 ORPHA:85297
- X-linked intellectual disability-ataxia-apraxia syndrome ORPHA:85338
- Fragile X-associated tremor/ataxia syndrome ORPHA:93256
- X-linked non progressive cerebellar ataxia ORPHA:314978
- Spastic ataxia ORPHA:316226
- Autosomal dominant spastic ataxia ORPHA:316235
- Spastic ataxia with congenital miosis ORPHA:1182
- Autosomal dominant spastic ataxia type 1 ORPHA:251282
- Autosomal recessive spastic ataxia ORPHA:316240
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay ORPHA:98
- Spastic ataxia-corneal dystrophy syndrome ORPHA:2572
- Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome ORPHA:254343
- Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome ORPHA:313772
- Autosomal recessive spastic ataxia with leukoencephalopathy ORPHA:314603
- Spastic ataxia-dysarthria due to glutaminase deficiency ORPHA:557056
- NKX6-2-related autosomal recessive hypomyelinating leukodystrophy ORPHA:527497
- Childhood-onset spasticity with hyperglycinemia ORPHA:401866
- Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome ORPHA:445062
- Neuhauser-Eichner-Opitz syndrome ORPHA:2672
- Ataxia-photosensitivity-short stature syndrome ORPHA:1184
- Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome ORPHA:1236
- Tremor-ataxia-central hypomyelination syndrome ORPHA:447896
- Hypomyelination of early myelinating structures ORPHA:599376
- RFVT2-related riboflavin transporter deficiency ORPHA:572543
- Rare genetic movement disorder ORPHA:183521
- Hereditary hyperekplexia ORPHA:3197
- Hyperekplexia-epilepsy syndrome ORPHA:163985
- Familial congenital mirror movements ORPHA:238722
- Rare genetic hyperkinetic movement disorder ORPHA:496916
- Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome ORPHA:684240
- GNAO1-related developmental delay-seizures-movement disorder spectrum ORPHA:592564
- Neurodegenerative disease with chorea ORPHA:306719
- Childhood-onset benign chorea with striatal involvement ORPHA:494541
- Huntington disease ORPHA:399
- Benign hereditary chorea ORPHA:1429
- Huntington disease-like 1 ORPHA:157941
- Brain-lung-thyroid syndrome ORPHA:209905
- Juvenile Huntington disease ORPHA:248111
- Huntington disease-like syndrome due to C9ORF72 expansions ORPHA:401901
- Motor stereotypies ORPHA:306765
- FOXG1 syndrome ORPHA:561854
- FOXG1 syndrome due to intragenic alteration ORPHA:598164
- FOXG1 syndrome due to 14q12 microdeletion ORPHA:261144
- CDKL5-deficiency disorder ORPHA:505652
- Rett syndrome ORPHA:778
- Fragile X syndrome ORPHA:908
- Williams syndrome ORPHA:904
- Atypical Rett syndrome ORPHA:3095
- Rare genetic tremor disorder ORPHA:307061
- Wilson disease ORPHA:905
- Hereditary geniospasm ORPHA:53372
- Sensorineural hearing loss-early graying-essential tremor syndrome ORPHA:66633
- Fragile X-associated tremor/ataxia syndrome ORPHA:93256
- Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome ORPHA:457212
- Rare genetic myoclonus ORPHA:307064
- Primary myoclonus ORPHA:306750
- Myoclonus-dystonia syndrome ORPHA:36899
- Familial adult myoclonic epilepsy ORPHA:86814
- Familial cortical myoclonus ORPHA:319189
- Hemifacial spasm ORPHA:221083
- Rare genetic disease with myoclonus as a major feature ORPHA:307067
- Epilepsy and/or ataxia with myoclonus as a major feature ORPHA:306756
- Non progressive epilepsy and/or ataxia with myoclonus as a major feature ORPHA:306759
- Progressive myoclonic epilepsy ORPHA:98261
- MERRF ORPHA:551
- Lafora disease ORPHA:501
- Progressive myoclonic epilepsy type 1 ORPHA:308
- Progressive epilepsy-intellectual disability syndrome, Finnish type ORPHA:1947
- CLN3 disease ORPHA:228346
- CLN4 disease ORPHA:228343
- CLN5 disease ORPHA:228360
- Familial encephalopathy with neuroserpin inclusion bodies ORPHA:85110
- Progressive dementia with neuroserpin inclusion bodies ORPHA:530303
- Progressive myoclonic epilepsy with neuroserpin inclusion bodies ORPHA:530298
- CLN1 disease ORPHA:228329
- CLN2 disease ORPHA:228349
- Progressive myoclonic epilepsy type 6 ORPHA:280620
- PRDM8-related progressive myoclonus epilepsy ORPHA:324290
- Progressive myoclonic epilepsy type 5 ORPHA:402082
- Progressive myoclonic epilepsy type 8 ORPHA:424027
- Progressive myoclonic epilepsy type 7 ORPHA:435438
- CLN6 disease ORPHA:228363
- CLN7 disease ORPHA:228366
- CLN8 disease ORPHA:228354
- CLN10 disease ORPHA:228337
- CLN13 disease ORPHA:352709
- Progressive myoclonic epilepsy type 3 ORPHA:263516
- Progressive myoclonic epilepsy type 9 ORPHA:457265
- CLN11 disease ORPHA:314629
- Spinal muscular atrophy-progressive myoclonic epilepsy syndrome ORPHA:2590
- Rare genetic dystonia ORPHA:391799
- Combined dystonia ORPHA:98203
- Paroxysmal dystonia ORPHA:200037
- Paroxysmal dyskinesia ORPHA:1431
- Infantile convulsions and choreoathetosis ORPHA:31709
- Paroxysmal kinesigenic dyskinesia ORPHA:98809
- Paroxysmal non-kinesigenic dyskinesia ORPHA:98810
- Paroxysmal exertion-induced dyskinesia ORPHA:98811
- Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity ORPHA:53583
- Benign paroxysmal torticollis of infancy ORPHA:71518
- Persistent combined dystonia ORPHA:391711
- Dystonia 28 ORPHA:589618
- Dystonia-parkinsonism-hypermanganesemia syndrome ORPHA:521406
- Dopa-responsive dystonia ORPHA:255
- Autosomal recessive dopa-responsive dystonia ORPHA:101150
- Dopa-responsive dystonia due to sepiapterin reductase deficiency ORPHA:70594
- Autosomal dominant dopa-responsive dystonia ORPHA:98808
- Myoclonus-dystonia syndrome ORPHA:36899
- X-linked dystonia-parkinsonism ORPHA:53351
- Rapid-onset dystonia-parkinsonism ORPHA:71517
- Adult-onset dystonia-parkinsonism ORPHA:199351
- Dystonia 16 ORPHA:210571
- Infantile dystonia-parkinsonism ORPHA:238455
- Brain dopamine-serotonin vesicular transport disease ORPHA:352649
- Infantile epileptic-dyskinetic encephalopathy ORPHA:364063
- Ataxia-telangiectasia variant ORPHA:370109
- Dystonia-aphonia syndrome ORPHA:412217
- MEPAN syndrome ORPHA:508093
- Hyperphenylalaninemia due to DNAJC12 deficiency ORPHA:508523
- Isolated dystonia ORPHA:156159
- Focal, segmental or multifocal dystonia ORPHA:1866
- Oromandibular dystonia ORPHA:93958
- Blepharospasm-oromandibular dystonia syndrome ORPHA:93964
- Primary dystonia, DYT4 type ORPHA:98805
- Primary dystonia, DYT13 type ORPHA:98807
- Primary dystonia, DYT2 type ORPHA:99657
- Autosomal dominant focal dystonia, DYT25 type ORPHA:329466
- Primary dystonia, DYT17 type ORPHA:370103
- Cranio-cervical dystonia with laryngeal and upper-limb involvement ORPHA:420485
- Adult-onset cervical dystonia, DYT23 type ORPHA:420492
- Primary dystonia, DYT27 type ORPHA:464440
- Infantile-onset generalized dyskinesia with orofacial involvement ORPHA:494526
- Generalized isolated dystonia ORPHA:376724
- Rare disorder with dystonia and other neurologic or systemic manifestation ORPHA:370106
- Wilson disease ORPHA:905
- Woodhouse-Sakati syndrome ORPHA:3464
- Developmental malformations-deafness-dystonia syndrome ORPHA:79107
- Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome ORPHA:369939
- Childhood-onset basal ganglia degeneration syndrome ORPHA:497906
- Ataxia-oculomotor apraxia type 4 ORPHA:459033
- IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome ORPHA:597623
- Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome ORPHA:660017
- Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome ORPHA:522077
- Rare paroxysmal movement disorder ORPHA:306768
- Benign paroxysmal tonic upgaze of childhood with ataxia ORPHA:1179
- Paroxysmal dystonia ORPHA:200037
- Paroxysmal dyskinesia ORPHA:1431
- Infantile convulsions and choreoathetosis ORPHA:31709
- Paroxysmal kinesigenic dyskinesia ORPHA:98809
- Paroxysmal non-kinesigenic dyskinesia ORPHA:98810
- Paroxysmal exertion-induced dyskinesia ORPHA:98811
- Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity ORPHA:53583
- Benign paroxysmal torticollis of infancy ORPHA:71518
- Familial dyskinesia and facial myokymia ORPHA:324588
- Rare genetic parkinsonian disorder ORPHA:307052
- Rapid-onset dystonia-parkinsonism ORPHA:71517
- Rare parkinsonian syndrome due to genetic neurodegenerative disease ORPHA:307055
- Young-onset Parkinson disease ORPHA:2828
- Early-onset parkinsonism-intellectual disability syndrome ORPHA:2379
- X-linked dystonia-parkinsonism ORPHA:53351
- Parkinsonian-pyramidal syndrome ORPHA:171695
- Perry syndrome ORPHA:178509
- Adult-onset dystonia-parkinsonism ORPHA:199351
- Dystonia 16 ORPHA:210571
- Autosomal dominant striatal neurodegeneration ORPHA:228169
- Infantile dystonia-parkinsonism ORPHA:238455
- Hemiparkinsonism-hemiatrophy syndrome ORPHA:306669
- ATP13A2-related parkinsonism ORPHA:514980
- Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome ORPHA:309854
- X-linked parkinsonism-spasticity syndrome ORPHA:363654
- Atypical juvenile parkinsonism ORPHA:391411
- Hereditary late-onset Parkinson disease ORPHA:411602
- Bilateral striopallidodentate calcinosis ORPHA:1980
- Parkinsonism with polyneuropathy ORPHA:611237
- Miscellaneous movement disorder due to genetic neurodegenerative disease ORPHA:307058
- Neurodegeneration with brain iron accumulation ORPHA:385
- Woodhouse-Sakati syndrome ORPHA:3464
- Aceruloplasminemia ORPHA:48818
- Neuroferritinopathy ORPHA:157846
- Pantothenate kinase-associated neurodegeneration ORPHA:157850
- Classic pantothenate kinase-associated neurodegeneration ORPHA:216866
- Atypical pantothenate kinase-associated neurodegeneration ORPHA:216873
- Mitochondrial membrane protein-associated neurodegeneration ORPHA:289560
- Kufor-Rakeb syndrome ORPHA:306674
- Beta-propeller protein-associated neurodegeneration ORPHA:329284
- PLA2G6-associated neurodegeneration ORPHA:329303
- Fatty acid hydroxylase-associated neurodegeneration ORPHA:329308
- COASY protein-associated neurodegeneration ORPHA:397725
- Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome ORPHA:496756
- Neuronal intranuclear inclusion disease ORPHA:2289
- Infantile bilateral striatal necrosis ORPHA:1576
- Sporadic infantile bilateral striatal necrosis ORPHA:225147
- Familial infantile bilateral striatal necrosis ORPHA:225154
- Spinocerebellar ataxia type 17 ORPHA:98759
- Huntington disease-like 3 ORPHA:157946
- Neuroacanthocytosis ORPHA:263440
- Choreoacanthocytosis ORPHA:2388
- McLeod neuroacanthocytosis syndrome ORPHA:59306
- Huntington disease-like 2 ORPHA:98934
- Pantothenate kinase-associated neurodegeneration ORPHA:157850
- Inherited Creutzfeldt-Jakob disease ORPHA:282166
- Frontotemporal neurodegeneration with movement disorder ORPHA:306708
- Progressive supranuclear palsy ORPHA:683
- Atypical progressive supranuclear palsy syndrome ORPHA:99750
- Progressive supranuclear palsy-predominant parkinsonism syndrome ORPHA:240085
- Progressive supranuclear palsy-pure akinesia with gait freezing syndrome ORPHA:240094
- Progressive supranuclear palsy-corticobasal syndrome ORPHA:240103
- Progressive supranuclear palsy-progressive non-fluent aphasia syndrome ORPHA:240112
- Classic progressive supranuclear palsy syndrome ORPHA:240071
- Corticobasal syndrome ORPHA:454887
- Progressive non-fluent aphasia ORPHA:100070
- Behavioral variant of frontotemporal dementia ORPHA:275864
- Frontotemporal dementia with motor neuron disease ORPHA:275872
- Proximal myopathy with extrapyramidal signs ORPHA:401768
- Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder ORPHA:500180
- Intellectual disability-hyperkinetic movement-truncal ataxia syndrome ORPHA:369847
- Rare genetic intellectual disability ORPHA:183757
- Rare non-syndromic intellectual disability ORPHA:101685
- X-linked non-syndromic intellectual disability ORPHA:777
- Autosomal recessive non-syndromic intellectual disability ORPHA:88616
- Autosomal dominant non-syndromic intellectual disability ORPHA:178469
- Rare genetic syndromic intellectual disability ORPHA:183763
- Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability ORPHA:611327
- Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome ORPHA:314555
- Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome ORPHA:662829
- Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome ORPHA:662189
- Neurodevelopmental delay-intellectual disability-skeletal defects syndrome ORPHA:662198
- Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome ORPHA:662207
- PBX1-related congenital anomalies of kidney-urinary tract syndrome ORPHA:656130
- Intellectual disability-cupped ears syndrome ORPHA:656135
- CHD4-related neurodevelopmental disorder ORPHA:653712
- Jansen-de Vries syndrome ORPHA:653767
- 16q22 deletion syndrome ORPHA:658540
- Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome ORPHA:658843
- Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome ORPHA:659702
- Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome ORPHA:659975
- Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome ORPHA:659904
- Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome ORPHA:660021
- Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome ORPHA:662762
- Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome ORPHA:662175
- Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome ORPHA:662179
- CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome ORPHA:646278
- Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome ORPHA:675775
- Cleft palate-congenital heart defect-intellectual disability syndrome ORPHA:652519
- Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation ORPHA:652514
- Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion ORPHA:261190
- Oculogastrointestinal-neurodevelopmental syndrome ORPHA:611201
- Congenital generalized lipodystrophy ORPHA:528
- Joubert syndrome ORPHA:475
- Fraser syndrome ORPHA:2052
- 2q32q33 deletion syndrome ORPHA:251019
- Yunis-Varon syndrome ORPHA:3472
- Bardet-Biedl syndrome ORPHA:110
- Branchiogenic deafness syndrome ORPHA:50815
- Potocki-Shaffer syndrome ORPHA:52022
- Carpenter syndrome ORPHA:65759
- Robinow syndrome ORPHA:97360
- King-Denborough syndrome ORPHA:99741
- Symptomatic form of Coffin-Lowry syndrome in female carriers ORPHA:276630
- Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome ORPHA:280679
- Dysmorphism-conductive hearing loss-heart defect syndrome ORPHA:289553
- Contractures-developmental delay-Pierre Robin syndrome ORPHA:436003
- Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome ORPHA:494439
- Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome ORPHA:496693
- Weiss-Kruszka Syndrome ORPHA:502430
- 4q25 proximal deletion syndrome ORPHA:502437
- Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome ORPHA:589856
- LIG4 syndrome ORPHA:99812
- KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome ORPHA:610569
- Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome ORPHA:611207
- Mucolipidosis type II ORPHA:576
- Overgrowth-macrocephaly-facial dysmorphism syndrome ORPHA:137634
- Hurler syndrome ORPHA:93473
- Megalencephaly-capillary malformation-polymicrogyria syndrome ORPHA:60040
- CODAS syndrome ORPHA:1458
- Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome ORPHA:664410
- 5q14.3 microdeletion syndrome ORPHA:228384
- Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation ORPHA:664416
- Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome ORPHA:664438
- Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome ORPHA:664430
- Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome ORPHA:664923
- Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome ORPHA:2502
- Severe oculo-renal-cerebellar syndrome ORPHA:2715
- Orofaciodigital syndrome type 2 ORPHA:2751
- Orofaciodigital syndrome type 4 ORPHA:2753
- Orofaciodigital syndrome type 6 ORPHA:2754
- Autosomal recessive distal osteolysis syndrome ORPHA:2776
- Osteoporosis-pseudoglioma syndrome ORPHA:2788
- Pachygyria-intellectual disability-epilepsy syndrome ORPHA:2798
- Orofaciodigital syndrome type 5 ORPHA:2919
- Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome ORPHA:2928
- De Barsy syndrome ORPHA:2962
- Intellectual disability-cataracts-calcified pinnae-myopathy syndrome ORPHA:3042
- Spinocerebellar degeneration-corneal dystrophy syndrome ORPHA:3177
- Deafness-onychodystrophy syndrome ORPHA:3231
- MEHMO syndrome ORPHA:85282
- X-linked intellectual disability, Schimke type ORPHA:85285
- X-linked intellectual disability, Stocco Dos Santos type ORPHA:85288
- X-linked spinocerebellar ataxia type 3 ORPHA:85297
- X-linked intellectual disability-macrocephaly-macroorchidism syndrome ORPHA:85320
- X-linked intellectual disability, Seemanova type ORPHA:85323
- X-linked intellectual disability, Shrimpton type ORPHA:85324
- X-linked intellectual disability-acromegaly-hyperactivity syndrome ORPHA:85327
- X-linked intellectual disability-cerebellar hypoplasia syndrome ORPHA:137831
- X-linked intellectual disability, Najm type ORPHA:163937
- X-linked intellectual disability, Nascimento type ORPHA:163956
- X-linked cerebral-cerebellar-coloboma syndrome ORPHA:163961
- X-linked dominant chondrodysplasia, Chassaing-Lacombe type ORPHA:163966
- X-linked intellectual disability, Cilliers type ORPHA:163971
- X-linked intellectual disability, Van Esch type ORPHA:163976
- X-linked intellectual disability-craniofacioskeletal syndrome ORPHA:163979
- 48,XYYY syndrome ORPHA:99329
- 17q11.2 microduplication syndrome ORPHA:139474
- Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome ORPHA:163649
- Spondyloepiphyseal dysplasia tarda, Kohn type ORPHA:163665
- Microcephaly-polymicrogyria-corpus callosum agenesis syndrome ORPHA:171703
- Macrocephaly-intellectual disability-autism syndrome ORPHA:210548
- Hyperphosphatasia-intellectual disability syndrome ORPHA:247262
- Polymicrogyria with optic nerve hypoplasia ORPHA:250972
- Temple syndrome ORPHA:254516
- Temple syndrome due to maternal uniparental disomy of chromosome 14 ORPHA:96184
- Temple syndrome due to paternal 14q32.2 microdeletion ORPHA:254525
- Temple syndrome due to paternal 14q32.2 hypomethylation ORPHA:254531
- 2q23.1 microduplication syndrome ORPHA:313947
- 9p13 microdeletion syndrome ORPHA:324313
- Mowat-Wilson syndrome ORPHA:2152
- Mowat-Wilson syndrome due to monosomy 2q22 ORPHA:261537
- Mowat-Wilson syndrome due to a ZEB2 point mutation ORPHA:261552
- Holoprosencephaly-postaxial polydactyly syndrome ORPHA:2166
- Microcephaly-glomerulonephritis-marfanoid habitus syndrome ORPHA:2172
- Hypertelorism-microtia-facial clefting syndrome ORPHA:2213
- Ramos-Arroyo syndrome ORPHA:1051
- Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome ORPHA:2234
- Ulna hypoplasia-intellectual disability syndrome ORPHA:2249
- Hypospadias-intellectual disability, Goldblatt type syndrome ORPHA:2261
- Lowry-MacLean syndrome ORPHA:2409
- Macrocephaly-spastic paraplegia-dysmorphism syndrome ORPHA:2429
- Marden-Walker syndrome ORPHA:2461
- Shprintzen-Goldberg syndrome ORPHA:2462
- Marfanoid habitus-autosomal recessive intellectual disability syndrome ORPHA:2463
- McDonough syndrome ORPHA:2471
- Microbrachycephaly-ptosis-cleft lip syndrome ORPHA:2511
- Microcephaly-cardiomyopathy syndrome ORPHA:2515
- Autosomal recessive chorioretinopathy-microcephaly syndrome ORPHA:2518
- Microcephaly-cleft palate-abnormal retinal pigmentation syndrome ORPHA:2521
- Microcephaly-cervical spine fusion anomalies syndrome ORPHA:2522
- Microcephaly-brain defect-spasticity-hypernatremia syndrome ORPHA:2523
- Microcephaly-microcornea syndrome, Seemanova type ORPHA:2528
- Microcephaly-deafness-intellectual disability syndrome ORPHA:2533
- Myhre syndrome ORPHA:2588
- N syndrome ORPHA:2608
- Microcephalic primordial dwarfism, Montreal type ORPHA:2617
- Lenz-Majewski hyperostotic dwarfism ORPHA:2658
- Neurofaciodigitorenal syndrome ORPHA:2673
- Oculocerebrofacial syndrome, Kaufman type ORPHA:2707
- Polymicrogyria ORPHA:35981
- Bilateral polymicrogyria ORPHA:268940
- Bilateral perisylvian polymicrogyria ORPHA:98889
- Bilateral frontoparietal polymicrogyria ORPHA:101070
- Bilateral parasagittal parieto-occipital polymicrogyria ORPHA:208441
- Bilateral frontal polymicrogyria ORPHA:208444
- Bilateral generalized polymicrogyria ORPHA:208447
- Unilateral polymicrogyria ORPHA:268943
- Lissencephaly ORPHA:48471
- Microlissencephaly ORPHA:1083
- Cobblestone lissencephaly ORPHA:51577
- Cobblestone lissencephaly without muscular or ocular involvement ORPHA:352682
- Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies ORPHA:352687
- Lissencephaly with cerebellar hypoplasia ORPHA:86823
- Lissencephaly with cerebellar hypoplasia type A ORPHA:100011
- Lissencephaly with cerebellar hypoplasia type B ORPHA:100012
- Lissencephaly with cerebellar hypoplasia type C ORPHA:100013
- Lissencephaly with cerebellar hypoplasia type D ORPHA:100014
- Lissencephaly with cerebellar hypoplasia type E ORPHA:100015
- Lissencephaly with cerebellar hypoplasia type F ORPHA:100016
- Classic lissencephaly ORPHA:102009
- Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome ORPHA:572013
- Lissencephaly type 1 due to doublecortin gene mutation ORPHA:2148
- Miller-Dieker syndrome ORPHA:531
- Isolated lissencephaly type 1 without known genetic defects ORPHA:1084
- Lissencephaly due to LIS1 mutation ORPHA:95232
- Other syndrome with lissencephaly as a major feature ORPHA:102010
- Craniotelencephalic dysplasia ORPHA:1528
- Micro syndrome ORPHA:2510
- Baraitser-Winter cerebrofrontofacial syndrome ORPHA:2995
- X-linked lissencephaly with abnormal genitalia ORPHA:452
- Lissencephaly type 3 ORPHA:102011
- Neu-Laxova syndrome ORPHA:2671
- Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency ORPHA:583602
- Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency ORPHA:583607
- Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency ORPHA:583612
- Lissencephaly type 3-familial fetal akinesia sequence syndrome ORPHA:86821
- Lissencephaly type 3-metacarpal bone dysplasia syndrome ORPHA:86822
- Lissencephaly due to TUBA1A mutation ORPHA:171680
- Phelan-McDermid syndrome ORPHA:48652
- Phelan-McDermid syndrome due to SHANK3 mutation ORPHA:662172
- Phelan-McDermid syndrome due to 22q13.3 deletion ORPHA:662169
- Microlissencephaly-micromelia syndrome ORPHA:50810
- Lipodystrophy-intellectual disability-deafness syndrome ORPHA:50811
- Global developmental delay-osteopenia-ectodermal defect syndrome ORPHA:73223
- Ossification anomalies-psychomotor developmental delay syndrome ORPHA:73230
- B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome ORPHA:75496
- Microphthalmia-brain atrophy syndrome ORPHA:77299
- CAMOS syndrome ORPHA:83472
- 12q14 microdeletion syndrome ORPHA:94063
- 48,XXXY syndrome ORPHA:96263
- 49,XXXXY syndrome ORPHA:96264
- X-linked skeletal dysplasia-intellectual disability syndrome ORPHA:1436
- Seizures-intellectual disability due to hydroxylysinuria syndrome ORPHA:79156
- S-adenosylhomocysteine hydrolase deficiency ORPHA:88618
- Keratosis follicularis-dwarfism-cerebral atrophy syndrome ORPHA:2339
- Microphthalmia with linear skin defects syndrome ORPHA:2556
- Orofaciodigital syndrome type 1 ORPHA:2750
- X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome ORPHA:2958
- X-linked intellectual disability-seizures-psoriasis syndrome ORPHA:3052
- Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ORPHA:83473
- COG7-CDG ORPHA:79333
- Matthew-Wood syndrome ORPHA:2470
- Distal deletion 1q syndrome ORPHA:36367
- Microphthalmia with brain and digit anomalies ORPHA:139471
- Grange syndrome ORPHA:79094
- Otofaciocervical syndrome ORPHA:2792
- TARP syndrome ORPHA:2886
- Keipert syndrome ORPHA:2662
- 11p15.4 microduplication syndrome ORPHA:300305
- Multiple congenital anomalies-hypotonia-seizures syndrome type 2 ORPHA:300496
- Polymicrogyria due to TUBB2B mutation ORPHA:300573
- 20p13 microdeletion syndrome ORPHA:313781
- Jawad syndrome ORPHA:313795
- 7p22.1 microduplication syndrome ORPHA:314034
- Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome ORPHA:314575
- 15q overgrowth syndrome ORPHA:314585
- Cerebrofacioarticular syndrome ORPHA:314679
- Distal 17p13.1 microdeletion syndrome ORPHA:319171
- Wiedemann-Steiner syndrome ORPHA:319182
- X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome ORPHA:431140
- Orofaciodigital syndrome type 14 ORPHA:434179
- X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome ORPHA:435938
- HIDEA syndrome ORPHA:436141
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome ORPHA:438213
- Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion ORPHA:314655
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation ORPHA:438216
- PDE4D haploinsufficiency syndrome ORPHA:439822
- 11q22.2q22.3 microdeletion syndrome ORPHA:444002
- 20q11.2 microdeletion syndrome ORPHA:444051
- Cerebellar-facial-dental syndrome ORPHA:444072
- Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome ORPHA:444077
- 19p13.3 microduplication syndrome ORPHA:447980
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome ORPHA:453499
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion ORPHA:352665
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation ORPHA:453504
- 1p35.2 microdeletion syndrome ORPHA:456298
- Infantile multisystem neurologic-endocrine-pancreatic disease ORPHA:456312
- KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome ORPHA:457193
- X-linked intellectual disability-short stature-overweight syndrome ORPHA:457240
- Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome ORPHA:457279
- Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome ORPHA:457284
- Megalencephaly-severe kyphoscoliosis-overgrowth syndrome ORPHA:457359
- Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome ORPHA:457365
- Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome ORPHA:457395
- Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome ORPHA:457485
- Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome ORPHA:459061
- X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome ORPHA:459070
- Corpus callosum agenesis-macrocephaly-hypertelorism syndrome ORPHA:459074
- Spastic paraplegia-severe developmental delay-epilepsy syndrome ORPHA:464282
- Short stature-brachydactyly-obesity-global developmental delay syndrome ORPHA:464288
- DYRK1A-related intellectual disability syndrome ORPHA:464306
- DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion ORPHA:268261
- Intellectual disability syndrome due to a DYRK1A point mutation ORPHA:464311
- Basel-Vanagaite-Smirin-Yosef syndrome ORPHA:464738
- Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome ORPHA:466688
- Macrocephaly-intellectual disability-left ventricular non compaction syndrome ORPHA:466791
- WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome ORPHA:466943
- Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion ORPHA:284169
- Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation ORPHA:466950
- White-Sutton syndrome ORPHA:468678
- SLC39A8-CDG ORPHA:468699
- Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome ORPHA:476126
- Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome ORPHA:477993
- X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability ORPHA:480880
- Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome ORPHA:480898
- X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome ORPHA:480907
- PYCR2-related microcephaly-progressive leukoencephalopathy ORPHA:481152
- 16p12.1p12.3 triplication syndrome ORPHA:485405
- Takenouchi-Kosaki syndrome ORPHA:487796
- Pierpont syndrome ORPHA:487825
- Camptodactyly syndrome, Guadalajara type 3 ORPHA:488434
- Transketolase deficiency ORPHA:488618
- Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome ORPHA:488627
- TBCK-related intellectual disability syndrome ORPHA:488632
- TELO2-related intellectual disability-neurodevelopmental disorder ORPHA:488642
- RERE-related neurodevelopmental syndrome ORPHA:494344
- 9q33.3q34.11 microdeletion syndrome ORPHA:495818
- Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome ORPHA:495875
- Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ORPHA:496641
- Tall stature-intellectual disability-renal anomalies syndrome ORPHA:500095
- Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome ORPHA:500144
- Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome ORPHA:500150
- Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom ORPHA:500159
- Witteveen-Kolk syndrome ORPHA:500163
- 15q24 microdeletion syndrome ORPHA:94065
- SIN3-related intellectual disability syndrome due to a point mutation ORPHA:500166
- COG1-CDG ORPHA:263508
- Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome ORPHA:1495
- Crane-Heise syndrome ORPHA:1512
- Craniodigital-intellectual disability syndrome ORPHA:1514
- Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome ORPHA:1812
- Epiphyseal dysplasia-hearing loss-dysmorphism syndrome ORPHA:1825
- Paraplegia-intellectual disability-hyperkeratosis syndrome ORPHA:2824
- Floating-Harbor syndrome ORPHA:2044
- Fryns syndrome ORPHA:2059
- Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome ORPHA:52055
- X-linked creatine transporter deficiency ORPHA:52503
- Atelosteogenesis type II ORPHA:56304
- Atelosteogenesis type III ORPHA:56305
- Cerebrooculonasal syndrome ORPHA:66625
- Goldberg-Shprintzen megacolon syndrome ORPHA:66629
- Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome ORPHA:71267
- Mandibulofacial dysostosis-microcephaly syndrome ORPHA:79113
- Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome ORPHA:83617
- Keutel syndrome ORPHA:85202
- X-linked intellectual disability, Abidi type ORPHA:85273
- Syndromic X-linked intellectual disability 7 ORPHA:85274
- Microphthalmia-ankyloblepharon-intellectual disability syndrome ORPHA:85275
- X-linked intellectual disability, Armfield type ORPHA:85276
- Christianson syndrome ORPHA:85278
- KDM5C-related syndromic X-linked intellectual disability ORPHA:85279
- X-linked intellectual disability-cubitus valgus-dysmorphism syndrome ORPHA:85280
- X-linked intellectual disability, Stevenson type ORPHA:85325
- X-linked intellectual disability, Snyder type ORPHA:3063
- Severe X-linked intellectual disability, Gustavson type ORPHA:3078
- Van den Bosch syndrome ORPHA:3417
- Wieacker-Wolff syndrome ORPHA:3454
- Wilson-Turner syndrome ORPHA:3459
- ARX-related encephalopathy-brain malformation spectrum ORPHA:423655
- Corpus callosum agenesis-abnormal genitalia syndrome ORPHA:2508
- X-linked lissencephaly with abnormal genitalia ORPHA:452
- Keppen-Lubinsky syndrome ORPHA:435628
- Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome ORPHA:436245
- Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome ORPHA:457205
- Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome ORPHA:457212
- PMP22-RAI1 contiguous gene duplication syndrome ORPHA:477817
- Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome ORPHA:500533
- Lamb-Shaffer syndrome ORPHA:530983
- Developmental and speech delay due to SOX5 deficiency ORPHA:313892
- 12p12.1 microdeletion syndrome ORPHA:313884
- PRUNE1-related neurological syndrome ORPHA:544469
- Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome ORPHA:544488
- C syndrome ORPHA:1308
- X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome ORPHA:3055
- Intellectual disability, Buenos-Aires type ORPHA:3079
- Intellectual disability, Wolff type ORPHA:3080
- Richieri Costa-da Silva syndrome ORPHA:3101
- Ruvalcaba syndrome ORPHA:3121
- Say-Barber-Miller syndrome ORPHA:3132
- SCARF syndrome ORPHA:3134
- Omphalocele syndrome, Shprintzen-Goldberg type ORPHA:3164
- Microcephaly-brachydactyly-kyphoscoliosis syndrome ORPHA:3433
- MMEP syndrome ORPHA:3434
- Weaver-Williams syndrome ORPHA:3448
- Wiedemann-Rautenstrauch syndrome ORPHA:3455
- Zimmermann-Laband syndrome ORPHA:3473
- Brachydactyly-mesomelia-intellectual disability-heart defects syndrome ORPHA:1277
- Facial dysmorphism-shawl scrotum-joint laxity syndrome ORPHA:1778
- Intellectual disability-short stature-hypertelorism syndrome ORPHA:3074
- Microcephaly-seizures-intellectual disability-heart disease syndrome ORPHA:2519
- X-linked intellectual disability-plagiocephaly syndrome ORPHA:2898
- Cleft palate-short stature-vertebral anomalies syndrome ORPHA:2015
- Macrocephaly-short stature-paraplegia syndrome ORPHA:2427
- Fryns-Smeets-Thiry syndrome ORPHA:2058
- White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome ORPHA:3207
- Arachnodactyly-intellectual disability-dysmorphism syndrome ORPHA:1130
- Deafness-intellectual disability syndrome, Martin-Probst type ORPHA:85321
- X-linked intellectual disability, Pai type ORPHA:85322
- X-linked intellectual disability, Stoll type ORPHA:85326
- Brachydactyly-short stature-retinitis pigmentosa syndrome ORPHA:166035
- Familial scaphocephaly syndrome, McGillivray type ORPHA:168624
- Kagami-Ogata syndrome ORPHA:254519
- Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 ORPHA:96334
- Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion ORPHA:254528
- Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation ORPHA:254534
- 21q22.11q22.12 microdeletion syndrome ORPHA:261323
- Kleefstra syndrome ORPHA:261494
- Kleefstra syndrome due to 9q34 microdeletion ORPHA:96147
- Kleefstra syndrome due to a point mutation ORPHA:261652
- Multiple congenital anomalies-hypotonia-seizures syndrome ORPHA:280633
- 8q21.11 microdeletion syndrome ORPHA:284160
- Xp22.13p22.2 duplication syndrome ORPHA:284180
- Microtriplication 11q24.1 syndrome ORPHA:289522
- Blepharophimosis-intellectual disability syndrome ORPHA:293642
- Distal deletion 3p syndrome ORPHA:1620
- Blepharophimosis-intellectual disability syndrome, Ohdo type ORPHA:2728
- Blepharophimosis-intellectual disability syndrome, SBBYS type ORPHA:3047
- Blepharophimosis-intellectual disability syndrome, MKB type ORPHA:293707
- Blepharophimosis-intellectual disability syndrome, Verloes type ORPHA:293725
- SMARCA2-related blepharophimosis-intellectual disability syndrome ORPHA:637013
- 3MC syndrome ORPHA:293843
- Pontocerebellar hypoplasia type 11 ORPHA:611247
- Muenke syndrome ORPHA:53271
- Ogden syndrome ORPHA:276432
- Acromelic frontonasal dysplasia ORPHA:1827
- Pontocerebellar hypoplasia type 7 ORPHA:284339
- Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation ORPHA:300570
- Spondylo-ocular syndrome ORPHA:85194
- Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation ORPHA:642763
- GAPO syndrome ORPHA:2067
- Prominent glabella-microcephaly-hypogenitalism syndrome ORPHA:2083
- Oculofaciocardiodental syndrome ORPHA:2712
- Oculo-palato-cerebral syndrome ORPHA:2714
- Oculocerebral hypopigmentation syndrome, Cross type ORPHA:2719
- Oculocerebral hypopigmentation syndrome, Preus type ORPHA:2720
- Lethal omphalocele-cleft palate syndrome ORPHA:2736
- Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome ORPHA:2743
- Oliver syndrome ORPHA:2920
- Preaxial polydactyly-colobomata-intellectual disability syndrome ORPHA:2921
- Nicolaides-Baraitser syndrome ORPHA:3051
- Aymé-Gripp syndrome ORPHA:1272
- Arachnodactyly-abnormal ossification-intellectual disability syndrome ORPHA:1129
- Cataract-deafness-hypogonadism syndrome ORPHA:1383
- Caudal appendage-deafness syndrome ORPHA:1123
- Opitz GBBB syndrome ORPHA:2745
- Intellectual disability-polydactyly-uncombable hair syndrome ORPHA:3082
- CHIME syndrome ORPHA:3474
- Brachydactyly-nystagmus-cerebellar ataxia syndrome ORPHA:1246
- Smith-Lemli-Opitz syndrome ORPHA:818
- Congenital cataracts-facial dysmorphism-neuropathy syndrome ORPHA:48431
- X-linked intellectual disability, Miles-Carpenter type ORPHA:85283
- BRESEK syndrome ORPHA:85284
- X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome ORPHA:85317
- X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome ORPHA:85319
- X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome ORPHA:85329
- Fried syndrome ORPHA:85335
- Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome ORPHA:86818
- Sialidosis type 2 ORPHA:87876
- Otopalatodigital syndrome type 1 ORPHA:90650
- Otopalatodigital syndrome type 2 ORPHA:90652
- FG syndrome type 1 ORPHA:93932
- STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome ORPHA:502434
- Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome ORPHA:505237
- Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders ORPHA:505248
- Stromme syndrome ORPHA:506307
- Gabriele-de Vries syndrome ORPHA:506358
- 8q24.3 microdeletion syndrome ORPHA:508488
- Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome ORPHA:508498
- Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome ORPHA:508533
- Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome ORPHA:508542
- Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome ORPHA:513456
- Xq25 microduplication syndrome ORPHA:521258
- PLAA-associated neurodevelopmental disorder ORPHA:521426
- Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome ORPHA:529665
- 17q24.2 microdeletion syndrome ORPHA:529962
- Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome ORPHA:529965
- RNF13-related severe early-onset epileptic encephalopathy ORPHA:544503
- Pancreatic agenesis-holoprosencephaly syndrome ORPHA:556955
- Oculoskeletodental syndrome ORPHA:557003
- Congenital limbs-face contractures-hypotonia-developmental delay syndrome ORPHA:562528
- Anterior maxillary protrusion-strabismus-intellectual disability syndrome ORPHA:562559
- TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome ORPHA:562569
- Craniosynostosis-microretrognathia-severe intellectual disability syndrome ORPHA:565858
- Blepharophimosis-ptosis-epicanthus inversus syndrome plus ORPHA:572333
- SATB2-associated syndrome ORPHA:576278
- SATB2-associated syndrome due to a chromosomal rearrangement ORPHA:251028
- SATB2-associated syndrome due to a pathogenic variant ORPHA:576283
- QRICH1-related intellectual disability-chondrodysplasia syndrome ORPHA:580940
- Spondylometaphyseal dysplasia-corneal dystrophy syndrome ORPHA:589435
- Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome ORPHA:589442
- PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome ORPHA:589905
- TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome ORPHA:592570
- Menke-Hennekam syndrome ORPHA:592574
- Luscan-Lumish syndrome ORPHA:597738
- SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome ORPHA:597743
- KAT6B-related multiple congenital anomalies syndrome ORPHA:597749
- Blepharophimosis-intellectual disability syndrome, SBBYS type ORPHA:3047
- Genitopatellar syndrome ORPHA:85201
- Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome ORPHA:597746
- Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome ORPHA:598603
- CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome ORPHA:599082
- CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome ORPHA:600668
- Clark-Baraitser syndrome ORPHA:600731
- Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome ORPHA:603448
- KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome ORPHA:603684
- KLHL7-related Bohring-Opitz-like syndrome ORPHA:603689
- CHARGE syndrome ORPHA:138
- Carey-Fineman-Ziter syndrome ORPHA:1358
- Autosomal dominant popliteal pterygium syndrome ORPHA:1300
- Cerebrocostomandibular syndrome ORPHA:1393
- Joubert syndrome with hepatic defect ORPHA:1454
- Cantú syndrome ORPHA:1517
- Curry-Jones syndrome ORPHA:1553
- Restrictive dermopathy ORPHA:1662
- Hypomandibular faciocranial dysostosis ORPHA:1790
- Frontometaphyseal dysplasia ORPHA:1826
- Focal dermal hypoplasia ORPHA:2092
- Pallister-Hall syndrome ORPHA:672
- Marshall-Smith syndrome ORPHA:561
- Mietens syndrome ORPHA:2557
- Oculodentodigital dysplasia ORPHA:2710
- Short stature-wormian bones-dextrocardia syndrome ORPHA:2863
- Schinzel-Giedion syndrome ORPHA:798
- Ulnar-mammary syndrome ORPHA:3138
- Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN ORPHA:675782
- PRC-2 complex-related overgrowth spectrum ORPHA:659387
- Weaver syndrome ORPHA:3447
- Cohen-Gibson syndrome ORPHA:659396
- Imagawa-Matsumoto syndrome ORPHA:659463
- Rauch-Steindl syndrome ORPHA:659642
- Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome ORPHA:659609
- Neurooculocardiogenitourinary syndrome ORPHA:684305
- Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome ORPHA:684232
- Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome ORPHA:684216
- Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome ORPHA:684226
- 2q13 microdeletion syndrome ORPHA:684742
- 10p13-p14 deletion syndrome ORPHA:687695
- ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to 10p15.3 microdeletion ORPHA:687424
- BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome ORPHA:686482
- RNU4-2-related neurodevelopmental disorder-facial dysmorphism-white matter abnormalities-short stature syndrome ORPHA:686488
- MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome ORPHA:686495
- Combined immunodeficiency due to TBX1 deficiency ORPHA:685017
- Turnpenny-Fry syndrome ORPHA:688642
- Okur-Chung neurodevelopmental syndrome ORPHA:689422
- Poirier-Bienvenue neurodevelopmental syndrome ORPHA:689397
- Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome ORPHA:689829
- Shashi-Pena syndrome ORPHA:689408
- 3q26q28 deletion syndrome ORPHA:695611
- CHAMP1-related intellectual disability-facial dysmorphism-behavioral abnormalities syndrome ORPHA:692193
- Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome ORPHA:1014
- Aniridia-renal agenesis-psychomotor retardation syndrome ORPHA:1064
- Intellectual disability-spasticity-ectrodactyly syndrome ORPHA:1891
- Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome ORPHA:1964
- Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome ORPHA:1970
- Faciocardiorenal syndrome ORPHA:1973
- Acrocardiofacial syndrome ORPHA:2008
- Kapur-Toriello syndrome ORPHA:2328
- KBG syndrome ORPHA:2332
- Pseudoprogeria syndrome ORPHA:2985
- Pterygium colli-intellectual disability-digital anomalies syndrome ORPHA:2988
- Qazi-Markouizos syndrome ORPHA:3010
- Ramon syndrome ORPHA:3019
- Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome ORPHA:3038
- Intellectual disability-balding-patella luxation-acromicria syndrome ORPHA:3041
- Radioulnar synostosis-developmental delay-hypotonia syndrome ORPHA:3270
- Telecanthus-hypertelorism-strabismus-pes cavus syndrome ORPHA:3293
- Fallot complex-intellectual disability-growth delay syndrome ORPHA:3304
- Trichomegaly-retina pigmentary degeneration-dwarfism syndrome ORPHA:3363
- Trigonocephaly-short stature-developmental delay syndrome ORPHA:3369
- Ulbright-Hodes syndrome ORPHA:3404
- Urban-Rogers-Meyer syndrome ORPHA:3409
- VACTERL with hydrocephalus ORPHA:3412
- Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome ORPHA:73246
- Brain malformation-congenital heart disease-postaxial polydactyly syndrome ORPHA:75389
- Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia ORPHA:94066
- Biemond syndrome type 2 ORPHA:141333
- Zechi-Ceide syndrome ORPHA:217017
- 17q21.31 microduplication syndrome ORPHA:217340
- 19q13.11 microdeletion syndrome ORPHA:217346
- Microduplication Xp11.22p11.23 syndrome ORPHA:217377
- 17p13.3 microduplication syndrome ORPHA:217385
- Pseudoaminopterin syndrome ORPHA:221120
- 2q23.1 microdeletion syndrome ORPHA:228402
- Syndromic multisystem autoimmune disease due to Itch deficiency ORPHA:228426
- Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome ORPHA:324416
- Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome ORPHA:324540
- Microcephalic primordial dwarfism ORPHA:324761
- Seckel syndrome ORPHA:808
- Ear-patella-short stature syndrome ORPHA:2554
- Microcephalic primordial dwarfism, Toriello type ORPHA:2643
- Microcephalic osteodysplastic primordial dwarfism types I and III ORPHA:2636
- Microcephalic osteodysplastic primordial dwarfism type II ORPHA:2637
- Microcephalic osteodysplastic dysplasia, Saul-Wilson type ORPHA:85172
- Alazami syndrome ORPHA:319671
- Microcephalic primordial dwarfism, Dauber type ORPHA:319675
- Microcephalic primordial dwarfism due to ZNF335 deficiency ORPHA:329228
- Microcephalic cortical malformations-short stature due to RTTN deficiency ORPHA:468631
- DNMT3A-related microcephalic dwarfism ORPHA:658595
- DONSON-related microcephaly-short stature-limb abnormalities spectrum ORPHA:572761
- Schuurs-Hoeijmakers syndrome ORPHA:329224
- Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome ORPHA:329332
- 5p13 microduplication syndrome ORPHA:329802
- Autism spectrum disorder due to AUTS2 deficiency ORPHA:352490
- Bainbridge-Ropers syndrome ORPHA:352577
- Focal epilepsy-intellectual disability-cerebro-cerebellar malformation ORPHA:352587
- 19p13.13 microdeletion syndrome ORPHA:357001
- Short ulna-dysmorphism-hypotonia-intellectual disability syndrome ORPHA:357175
- THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome ORPHA:363444
- Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome ORPHA:352530
- Intellectual disability-strabismus syndrome ORPHA:363528
- Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome ORPHA:369939
- FOXP1 Syndrome ORPHA:391372
- Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome ORPHA:391408
- MEND syndrome ORPHA:401973
- Down syndrome ORPHA:870
- Fragile X syndrome ORPHA:908
- Williams syndrome ORPHA:904
- Wolf-Hirschhorn syndrome ORPHA:280
- Rubinstein-Taybi syndrome ORPHA:783
- Rubinstein-Taybi syndrome due to CREBBP mutations ORPHA:353277
- Rubinstein-Taybi syndrome due to 16p13.3 microdeletion ORPHA:353281
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ORPHA:353284
- WAGR syndrome ORPHA:893
- Coffin-Lowry syndrome ORPHA:192
- Cornelia de Lange syndrome ORPHA:199
- Holoprosencephaly ORPHA:2162
- Lobar holoprosencephaly ORPHA:93924
- Alobar holoprosencephaly ORPHA:93925
- Midline interhemispheric variant of holoprosencephaly ORPHA:93926
- Semilobar holoprosencephaly ORPHA:220386
- Septopreoptic holoprosencephaly ORPHA:280195
- Coffin-Siris syndrome ORPHA:1465
- Progressive epilepsy-intellectual disability syndrome, Finnish type ORPHA:1947
- Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome ORPHA:2773
- Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome ORPHA:3085
- Smith-Magenis syndrome ORPHA:819
- Acrocallosal syndrome ORPHA:36
- Cohen syndrome ORPHA:193
- Cooper-Jabs syndrome ORPHA:1488
- Dubowitz syndrome ORPHA:235
- Hypogonadism-mitral valve prolapse-intellectual disability syndrome ORPHA:2233
- Trichorhinophalangeal syndrome type 2 ORPHA:502
- Laurence-Moon syndrome ORPHA:2377
- Costello syndrome ORPHA:3071
- Proximal Xq28 duplication syndrome ORPHA:1762
- Epilepsy-microcephaly-skeletal dysplasia syndrome ORPHA:1948
- Epilepsy-telangiectasia syndrome ORPHA:1951
- 3C syndrome ORPHA:7
- Agnathia-holoprosencephaly-situs inversus syndrome ORPHA:990
- Hall-Riggs syndrome ORPHA:2107
- Harrod syndrome ORPHA:2115
- Hartsfield syndrome ORPHA:2117
- Hennekam syndrome ORPHA:2136
- Hernández-Aguirre Negrete syndrome ORPHA:2139
- Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome ORPHA:2278
- Dysmorphism-short stature-deafness-difference of sex development syndrome ORPHA:2282
- Johanson-Blizzard syndrome ORPHA:2315
- Johnson neuroectodermal syndrome ORPHA:2316
- Kabuki syndrome ORPHA:2322
- Sanjad-Sakati syndrome ORPHA:2323
- Upper limb defect-eye and ear abnormalities syndrome ORPHA:2489
- Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome ORPHA:3044
- Holoprosencephaly-radial heart renal anomalies syndrome ORPHA:3186
- Stimmler syndrome ORPHA:3199
- Fountain syndrome ORPHA:3219
- Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome ORPHA:3224
- Renpenning syndrome ORPHA:3242
- X-linked intellectual disability, Porteous type ORPHA:93945
- Hamel cerebro-palato-cardiac syndrome ORPHA:93946
- X-linked intellectual disability, Golabi-Ito-Hall type ORPHA:93947
- X-linked intellectual disability, Sutherland-Haan type ORPHA:93950
- Filippi syndrome ORPHA:3255
- CTCF-related neurodevelopmental disorder ORPHA:363611
- 20q11.2 microduplication syndrome ORPHA:363659
- 2p13.2 microdeletion syndrome ORPHA:363680
- Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome ORPHA:363686
- Craniofaciofrontodigital syndrome ORPHA:363705
- Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome ORPHA:363741
- X-linked intellectual disability due to GRIA3 mutations ORPHA:364028
- Intellectual disability-brachydactyly-Pierre Robin syndrome ORPHA:364577
- Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome ORPHA:369837
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency ORPHA:369891
- Intellectual disability-seizures-macrocephaly-obesity syndrome ORPHA:369950
- Intellectual disability-facial dysmorphism-hand anomalies syndrome ORPHA:370010
- SSR4-CDG ORPHA:370927
- XYLT1-CDG ORPHA:370930
- Hypotonia-speech impairment-severe cognitive delay syndrome ORPHA:371364
- Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome ORPHA:391307
- Macrocephaly-developmental delay syndrome ORPHA:397612
- Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome ORPHA:397709
- Microcephaly-thin corpus callosum-intellectual disability syndrome ORPHA:397951
- Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome ORPHA:397973
- 9q31.1q31.3 microdeletion syndrome ORPHA:401923
- 14q24.1q24.3 microdeletion syndrome ORPHA:401935
- Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency ORPHA:404440
- Tatton-Brown-Rahman syndrome ORPHA:404443
- ADNP syndrome ORPHA:404448
- FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome ORPHA:404451
- Intellectual disability-peripheral spasticity-exudative vitreoretinopathy syndrome ORPHA:404473
- Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome ORPHA:411986
- 13q12.3 microdeletion syndrome ORPHA:412035
- Temple-Baraitser syndrome ORPHA:420561
- Cono-spondylar dysplasia ORPHA:420794
- Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome ORPHA:423306
- 22q11.2 deletion syndrome ORPHA:567
- Prader-Willi syndrome ORPHA:739
- Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 ORPHA:98754
- Prader-Willi syndrome due to paternal 15q11q13 deletion ORPHA:98793
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 ORPHA:177901
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 ORPHA:177904
- Prader-Willi syndrome due to translocation ORPHA:177907
- Prader-Willi syndrome due to imprinting mutation ORPHA:177910
- Noonan syndrome ORPHA:648
- Microphthalmia, Lenz type ORPHA:568
- Aarskog-Scott syndrome ORPHA:915
- Cutaneous mastocytosis-deafness-microtia syndrome ORPHA:2135
- Moebius syndrome ORPHA:570
- Silver-Russell syndrome ORPHA:813
- Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 ORPHA:96182
- Silver-Russell syndrome due to 7p11.2p13 microduplication ORPHA:231137
- Silver-Russell syndrome due to an imprinting defect of 11p15 ORPHA:231140
- Silver-Russell syndrome due to 11p15 microduplication ORPHA:231144
- Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 ORPHA:231147
- Silver-Russell syndrome due to a point mutation ORPHA:397590
- Sotos syndrome ORPHA:821
- Ablepharon macrostomia syndrome ORPHA:920
- Hypoglossia-hypodactyly syndrome ORPHA:989
- Distal limb deficiencies-micrognathia syndrome ORPHA:1307
- Campomelia, Cumming type ORPHA:1318
- Hallermann-Streiff syndrome ORPHA:2108
- Hallermann-Streiff-like syndrome ORPHA:2109
- Donnai-Barrow syndrome ORPHA:2143
- Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome ORPHA:2180
- Isotretinoin-like syndrome ORPHA:2306
- Autosomal dominant primary microcephaly ORPHA:2514
- Noonan syndrome-like disorder with loose anagen hair ORPHA:2701
- SHORT syndrome ORPHA:3163
- Toriello-Carey syndrome ORPHA:3338
- Kallmann syndrome-heart disease syndrome ORPHA:2326
- Occipital horn syndrome ORPHA:198
- PHACE syndrome ORPHA:42775
- Char syndrome ORPHA:46627
- Bosley-Salih-Alorainy syndrome ORPHA:69737
- Anophthalmia/microphthalmia-esophageal atresia syndrome ORPHA:77298
- Combined immunodeficiency with facio-oculo-skeletal anomalies ORPHA:221139
- Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome ORPHA:228410
- 6q25.1 microdeletion syndrome ORPHA:664404
- Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation ORPHA:664401
- Roifman syndrome ORPHA:353298
- Prader-Willi-like syndrome ORPHA:398073
- CPE-related Prader-Willi-like syndrome ORPHA:633028
- 6q16 microdeletion syndrome ORPHA:171829
- SIM1-related Prader-Willi-like syndrome ORPHA:398079
- Schaaf-Yang syndrome ORPHA:398069
- 1p31p32 microdeletion syndrome ORPHA:401986
- Malan overgrowth syndrome ORPHA:420179
- Acrodysostosis ORPHA:950
- Fibrodysplasia ossificans progressiva ORPHA:337
- Joubert syndrome with ocular defect ORPHA:220493
- Autosomal recessive primary microcephaly ORPHA:2512
- Mosaic variegated aneuploidy syndrome ORPHA:1052
- Joubert syndrome with oculorenal defect ORPHA:2318
- Desmosterolosis ORPHA:35107
- Dyggve-Melchior-Clausen disease ORPHA:239
- Vici syndrome ORPHA:1493
- Fanconi anemia ORPHA:84
- Apert syndrome ORPHA:87
- Nijmegen breakage syndrome ORPHA:647
- Joubert syndrome with renal defect ORPHA:220497
- Zellweger syndrome ORPHA:912
- Lathosterolosis ORPHA:46059
- Corpus callosum agenesis-neuronopathy syndrome ORPHA:1496
- Maternal phenylketonuria syndrome ORPHA:2209
- Pontocerebellar hypoplasia type 10 ORPHA:411493
- RIN2 syndrome ORPHA:217335
- Adams-Oliver syndrome ORPHA:974
- Frontonasal dysplasia-alopecia-genital anomalies syndrome ORPHA:228390
- Wolcott-Rallison syndrome ORPHA:1667
- Roberts syndrome ORPHA:3103
- Shwachman-Diamond syndrome ORPHA:811
- Pontocerebellar hypoplasia type 13 ORPHA:613267
- Pontocerebellar hypoplasia type 14 ORPHA:613274
- Hereditary persistence of fetal hemoglobin-intellectual disability syndrome ORPHA:619233
- KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome ORPHA:633004
- Intellectual disability-early-onset cataract-microcephaly syndrome ORPHA:633035
- Mesomelic dysplasia-digital anomalies-intellectual disability syndrome ORPHA:632603
- CHD8 overgrowth syndrome ORPHA:642675
- Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome ORPHA:662234
- Craniofrontonasal dysplasia ORPHA:1520
- X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome ORPHA:1568
- X-linked alpha-thalassemia-intellectual disability syndrome ORPHA:847
- Simpson-Golabi-Behmel syndrome ORPHA:373
- Peters plus syndrome ORPHA:709
- Lujan-Fryns syndrome ORPHA:776
- Uveal coloboma-cleft lip and palate-intellectual disability ORPHA:1473
- Thumb stiffness-brachydactyly-intellectual disability syndrome ORPHA:1078
- Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome ORPHA:1110
- X-linked mandibulofacial dysostosis ORPHA:1131
- Ataxia-photosensitivity-short stature syndrome ORPHA:1184
- Atkin-Flaitz syndrome ORPHA:1193
- Bannayan-Riley-Ruvalcaba syndrome ORPHA:109
- Congenital intrauterine infection-like syndrome ORPHA:1229
- Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome ORPHA:1236
- Blepharonasofacial malformation syndrome ORPHA:1252
- Bonnemann-Meinecke-Reich syndrome ORPHA:1261
- Borjeson-Forssman-Lehmann syndrome ORPHA:127
- Bowen-Conradi syndrome ORPHA:1270
- Lambert syndrome ORPHA:1296
- Branchioskeletogenital syndrome ORPHA:1299
- Feingold syndrome ORPHA:1305
- Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome ORPHA:1321
- Cardiofaciocutaneous syndrome ORPHA:1340
- Congenital heart defect-round face-developmental delay syndrome ORPHA:1355
- Cataract-intellectual disability-anal atresia-urinary defects syndrome ORPHA:1381
- Cataract-intellectual disability-hypogonadism syndrome ORPHA:1387
- Catel-Manzke syndrome ORPHA:1388
- Cortical blindness-intellectual disability-polydactyly syndrome ORPHA:1389
- Cerebrofaciothoracic dysplasia ORPHA:1394
- Richards-Rundle syndrome ORPHA:1399
- Cryptorchidism-arachnodactyly-intellectual disability syndrome ORPHA:1548
- Temtamy syndrome ORPHA:1777
- Acrofacial dysostosis, Catania type ORPHA:1786
- Acrofacial dysostosis, Rodríguez type ORPHA:1788
- W syndrome ORPHA:2804
- Short stature-webbed neck-heart disease syndrome ORPHA:2865
- Pfeiffer-Palm-Teller syndrome ORPHA:2871
- Cardiocranial syndrome, Pfeiffer type ORPHA:2872
- Pitt-Hopkins syndrome ORPHA:2896
- X-linked intellectual disability, Shashi type ORPHA:85286
- X-linked intellectual disability, Siderius type ORPHA:85287
- X-linked intellectual disability, Cabezas type ORPHA:85293
- Distal deletion 6p syndrome ORPHA:96125
- Koolen-De Vries syndrome ORPHA:96169
- 17q21.31 microdeletion syndrome ORPHA:363958
- Koolen-De Vries syndrome due to a point mutation ORPHA:363965
- Bohring-Opitz syndrome ORPHA:97297
- 15q13.3 microdeletion syndrome ORPHA:199318
- Behr syndrome ORPHA:1239
- Nance-Horan syndrome ORPHA:627
- Campomelic dysplasia ORPHA:140
- Microphthalmia with limb anomalies ORPHA:1106
- Antley-Bixler syndrome ORPHA:83
- Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis ORPHA:63269
- Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis ORPHA:596008
- Brachymorphism-onychodysplasia-dysphalangism syndrome ORPHA:1292
- Angelman syndrome ORPHA:72
- Angelman syndrome due to maternal 15q11q13 deletion ORPHA:98794
- Angelman syndrome due to paternal uniparental disomy of chromosome 15 ORPHA:98795
- Angelman syndrome due to a point mutation ORPHA:411511
- Angelman syndrome due to imprinting defect in 15q11-q13 ORPHA:411515
- Difference of sex development-intellectual disability syndrome ORPHA:2983
- Cockayne syndrome ORPHA:191
- COFS syndrome ORPHA:1466
- Cockayne syndrome type 1 ORPHA:90321
- Cockayne syndrome type 2 ORPHA:90322
- Cockayne syndrome type 3 ORPHA:90324
- 48,XXYY syndrome ORPHA:10
- Ring chromosome 10 syndrome ORPHA:1438
- 17p11.2 microduplication syndrome ORPHA:1713
- 2q37 microdeletion syndrome ORPHA:1001
- Alopecia-contractures-dwarfism-intellectual disability syndrome ORPHA:1005
- Aniridia-ptosis-intellectual disability-familial obesity syndrome ORPHA:1067
- Aniridia-intellectual disability syndrome ORPHA:1068
- Contractures-ectodermal dysplasia-cleft lip/palate syndrome ORPHA:1484
- Hidrotic ectodermal dysplasia, Halal type ORPHA:1809
- Skeletal dysplasia-epilepsy-short stature syndrome ORPHA:1858
- Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome ORPHA:1816
- Hepatic fibrosis-renal cysts-intellectual disability syndrome ORPHA:2031
- Galloway-Mowat syndrome ORPHA:2065
- GMS syndrome ORPHA:2090
- Grubben-de Cock-Borghgraef syndrome ORPHA:2101
- Nodular neuronal heterotopia ORPHA:2149
- Periventricular nodular heterotopia ORPHA:98892
- Sub-cortical nodular heterotopia ORPHA:101029
- Subependymal nodular heterotopia ORPHA:101030
- Hypotrichosis-intellectual disability, Lopes type ORPHA:2266
- Osteopenia-intellectual disability-sparse hair syndrome ORPHA:2324
- Megalocornea-intellectual disability syndrome ORPHA:2479
- Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome ORPHA:611314
- CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome ORPHA:610573
- Aplastic anemia-intellectual disability-dwarfism syndrome ORPHA:611216
- Combined malonic and methylmalonic acidemia ORPHA:289504
- Autosomal recessive ataxia due to ubiquinone deficiency ORPHA:139485
- Infantile-onset generalized dyskinesia with orofacial involvement ORPHA:494526
- Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome ORPHA:502423
- Alopecia-epilepsy-pyorrhea-intellectual disability syndrome ORPHA:1008
- Ataxia-deafness-intellectual disability syndrome ORPHA:1188
- Intellectual disability-myopathy-short stature-endocrine defect syndrome ORPHA:3068
- Lethal ataxia with deafness and optic atrophy ORPHA:1187
- Hypoxanthine-guanine phosphoribosyltransferase deficiency ORPHA:206428
- Lesch-Nyhan syndrome ORPHA:510
- Hypoxanthine guanine phosphoribosyltransferase partial deficiency ORPHA:79233
- Hereditary cryohydrocytosis with reduced stomatin ORPHA:168577
- MEDNIK syndrome ORPHA:171851
- GMPPB-related limb-girdle muscular dystrophy R19 ORPHA:363623
- EAST syndrome ORPHA:199343
- Early-onset epilepsy-intellectual disability-brain anomalies syndrome ORPHA:488635
- Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome ORPHA:496756
- Ocular anomalies-axonal neuropathy-developmental delay syndrome ORPHA:496790
- C12ORF65-related combined oxidative phosphorylation defect ORPHA:497623
- Combined oxidative phosphorylation defect type 7 ORPHA:254930
- Autosomal recessive spastic paraplegia type 55 ORPHA:320375
- Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder ORPHA:500180
- Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract ORPHA:500545
- 3-methylglutaconic aciduria type 9 ORPHA:505216
- CDKL5-deficiency disorder ORPHA:505652
- Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction ORPHA:506353
- Congenital cerebellar ataxia due to RNU12 mutation ORPHA:512260
- Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome ORPHA:521390
- Dystonia-parkinsonism-hypermanganesemia syndrome ORPHA:521406
- Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome ORPHA:522077
- Encephalopathy due to mitochondrial and peroxisomal fission defect ORPHA:527276
- DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect ORPHA:330050
- MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect ORPHA:485421
- NKX6-2-related autosomal recessive hypomyelinating leukodystrophy ORPHA:527497
- Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome ORPHA:620363
- Woodhouse-Sakati syndrome ORPHA:3464
- Early-onset parkinsonism-intellectual disability syndrome ORPHA:2379
- Growth delay-intellectual disability-hepatopathy syndrome ORPHA:541423
- STXBP1-related encephalopathy ORPHA:599373
- Methylcobalamin deficiency type cblE ORPHA:2169
- RIDDLE syndrome ORPHA:420741
- Pancreatic hypoplasia-diabetes-congenital heart disease syndrome ORPHA:2255
- Septo-optic dysplasia spectrum ORPHA:3157
- Vitamin B12-unresponsive methylmalonic acidemia ORPHA:27
- Vitamin B12-unresponsive methylmalonic acidemia type mut- ORPHA:79312
- Vitamin B12-unresponsive methylmalonic acidemia type mut0 ORPHA:289916
- MIRAGE syndrome ORPHA:494433
- Maple syrup urine disease ORPHA:511
- Classic maple syrup urine disease ORPHA:268145
- Intermediate maple syrup urine disease ORPHA:268162
- Intermittent maple syrup urine disease ORPHA:268173
- Thiamine-responsive maple syrup urine disease ORPHA:268184
- Knobloch syndrome ORPHA:1571
- 3-methylglutaconic aciduria type 8 ORPHA:505208
- Osteopathia striata-cranial sclerosis syndrome ORPHA:2780
- Congenital brain dysgenesis due to glutamine synthetase deficiency ORPHA:71278
- Methionine adenosyltransferase I/III deficiency ORPHA:168598
- STT3A-CDG ORPHA:370921
- GNB5-related intellectual disability-cardiac arrhythmia syndrome ORPHA:542306
- Adult-onset Steinert myotonic dystrophy ORPHA:589830
- NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance ORPHA:600663
- Aspartylglucosaminuria ORPHA:93
- ALG6-CDG ORPHA:79320
- Autosomal recessive spastic paraplegia type 64 ORPHA:401810
- Hereditary folate malabsorption ORPHA:90045
- Autosomal recessive spastic ataxia with leukoencephalopathy ORPHA:314603
- Tuberous sclerosis complex ORPHA:805
- Phosphoribosylpyrophosphate synthetase superactivity ORPHA:3222
- Mild phosphoribosylpyrophosphate synthetase superactivity ORPHA:411536
- Severe phosphoribosylpyrophosphate synthetase superactivity ORPHA:411543
- Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 ORPHA:98791
- Hypomyelination of early myelinating structures ORPHA:599376
- Succinic semialdehyde dehydrogenase deficiency ORPHA:22
- Fucosidosis ORPHA:349
- Beta-mannosidosis ORPHA:118
- Sialidosis type 1 ORPHA:812
- Retinitis pigmentosa ORPHA:791
- Farber disease ORPHA:333
- Autosomal recessive spastic paraplegia type 45 ORPHA:320396
- Dopa-responsive dystonia due to sepiapterin reductase deficiency ORPHA:70594
- Severe X-linked mitochondrial encephalomyopathy ORPHA:238329
- Sjögren-Larsson syndrome ORPHA:816
- Classic galactosemia ORPHA:79239
- Tyrosinemia type 2 ORPHA:28378
- Stormorken-Sjaastad-Langslet syndrome ORPHA:3204
- Mucopolysaccharidosis type 7 ORPHA:584
- Mucolipidosis type IV ORPHA:578
- Sturge-Weber syndrome ORPHA:3205
- Mitochondrial neurogastrointestinal encephalomyopathy ORPHA:298
- Björnstad syndrome ORPHA:123
- Autosomal recessive ataxia, Beauce type ORPHA:88644
- Emery-Dreifuss muscular dystrophy ORPHA:261
- Autosomal dominant Emery-Dreifuss muscular dystrophy ORPHA:98853
- Autosomal recessive Emery-Dreifuss muscular dystrophy ORPHA:98855
- X-linked Emery-Dreifuss muscular dystrophy ORPHA:98863
- Free sialic acid storage disease ORPHA:834
- Free sialic acid storage disease, infantile form ORPHA:309324
- Intermediate severe Salla disease ORPHA:309331
- Salla disease ORPHA:309334
- Encephalopathy due to sulfite oxidase deficiency ORPHA:833
- Isolated sulfite oxidase deficiency ORPHA:99731
- Sulfite oxidase deficiency due to molybdenum cofactor deficiency ORPHA:99732
- Cerebrotendinous xanthomatosis ORPHA:909
- Mucopolysaccharidosis type 3 ORPHA:581
- Sanfilippo syndrome type A ORPHA:79269
- Sanfilippo syndrome type B ORPHA:79270
- Sanfilippo syndrome type C ORPHA:79271
- Sanfilippo syndrome type D ORPHA:79272
- MELAS ORPHA:550
- Pyruvate carboxylase deficiency ORPHA:3008
- Pyruvate carboxylase deficiency, infantile type ORPHA:353308
- Pyruvate carboxylase deficiency, severe neonatal type ORPHA:353314
- Pyruvate carboxylase deficiency, benign type ORPHA:353320
- Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome ORPHA:641361
- Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome ORPHA:641353
- Glutathione synthetase deficiency ORPHA:32
- Glutathione synthetase deficiency with 5-oxoprolinuria ORPHA:289846
- Glutathione synthetase deficiency without 5-oxoprolinuria ORPHA:289849
- SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome ORPHA:633014
- SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome ORPHA:633021
- SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome ORPHA:633024
- Hao-Fountain syndrome ORPHA:643549
- Hao-Fountain syndrome due to USP7 mutation ORPHA:643538
- Hao-Fountain syndrome due to 16p13.2 microdeletion ORPHA:500055
- Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome ORPHA:647788
- MYT1L-related developmental delay-intellectual disability-obesity syndrome ORPHA:647799
- Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome ORPHA:660017
- Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation ORPHA:660012
- Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion ORPHA:1617
- Congenital muscular dystrophy-cataract-intellectual disability syndrome ORPHA:662184
- Actinomyopathy-associated syndromic thrombocytopenia ORPHA:674653
- Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency ORPHA:675767
- Mucopolysaccharidosis type 10 ORPHA:662216
- NESCAV syndrome ORPHA:662367
- Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency ORPHA:664511
- Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome ORPHA:684240
- Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome ORPHA:686999
- Marbach-Schaaf neurodevelopmental syndrome ORPHA:692173
- Congenital cataract-hearing loss-severe developmental delay syndrome ORPHA:300313
- Aniridia-cerebellar ataxia-intellectual disability syndrome ORPHA:1065
- Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome ORPHA:3240
- Infantile bilateral striatal necrosis ORPHA:1576
- Sporadic infantile bilateral striatal necrosis ORPHA:225147
- Familial infantile bilateral striatal necrosis ORPHA:225154
- CEDNIK syndrome ORPHA:66631
- Growth delay due to insulin-like growth factor type 1 deficiency ORPHA:73272
- MORM syndrome ORPHA:75858
- Hypomyelination-congenital cataract syndrome ORPHA:85163
- Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome ORPHA:90103
- Prolidase deficiency ORPHA:742
- Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome ORPHA:2435
- Autosomal recessive proximal renal tubular acidosis ORPHA:93607
- Norrie disease ORPHA:649
- Aicardi syndrome ORPHA:50
- Incontinentia pigmenti ORPHA:464
- X-linked centronuclear myopathy ORPHA:596
- Isolated complex I deficiency ORPHA:2609
- X-linked spasticity-intellectual disability-epilepsy syndrome ORPHA:3175
- X-linked intellectual disability-epilepsy syndrome ORPHA:2076
- X-linked intellectual disability, Hedera type ORPHA:93952
- Female restricted epilepsy with intellectual disability ORPHA:101039
- Hyperekplexia-epilepsy syndrome ORPHA:163985
- Atypical Rett syndrome ORPHA:3095
- Mohr-Tranebjaerg syndrome ORPHA:52368
- X-linked Charcot-Marie-Tooth disease ORPHA:64747
- X-linked Charcot-Marie-Tooth disease type 5 ORPHA:99014
- X-linked Charcot-Marie-Tooth disease type 1 ORPHA:101075
- X-linked Charcot-Marie-Tooth disease type 2 ORPHA:101076
- X-linked Charcot-Marie-Tooth disease type 3 ORPHA:101077
- X-linked Charcot-Marie-Tooth disease type 4 ORPHA:101078
- X-linked Charcot-Marie-Tooth disease type 6 ORPHA:352675
- X-linked intellectual disability with isolated growth hormone deficiency ORPHA:67045
- X-linked intellectual disability, Cantagrel type ORPHA:85277
- X-linked intellectual disability, Wilson type ORPHA:85290
- X-linked spinocerebellar ataxia type 4 ORPHA:85292
- X-linked epilepsy-learning disabilities-behavior disorders syndrome ORPHA:85294
- X-linked intellectual disability-retinitis pigmentosa syndrome ORPHA:85332
- X-linked neurodegenerative syndrome, Bertini type ORPHA:85334
- X-linked neurodegenerative syndrome, Hamel type ORPHA:85336
- X-linked intellectual disability-ataxia-apraxia syndrome ORPHA:85338
- Partington syndrome ORPHA:94083
- Early-onset X-linked optic atrophy ORPHA:98890
- FRAXE intellectual disability ORPHA:100973
- Rolandic epilepsy-speech dyspraxia syndrome ORPHA:163721
- Oculocerebrorenal syndrome of Lowe ORPHA:534
- Mucopolysaccharidosis type 2 ORPHA:580
- Mucopolysaccharidosis type 2, severe form ORPHA:217085
- Mucopolysaccharidosis type 2, attenuated form ORPHA:217093
- Ornithine transcarbamylase deficiency ORPHA:664
- Menkes disease ORPHA:565
- Danon disease ORPHA:34587
- X-linked cerebral adrenoleukodystrophy ORPHA:139396
- SLC35A2-CDG ORPHA:356961
- CK syndrome ORPHA:251383
- L1 syndrome ORPHA:275543
- Hydrocephalus with stenosis of the aqueduct of Sylvius ORPHA:2182
- MASA syndrome ORPHA:2466
- X-linked complicated corpus callosum dysgenesis ORPHA:1497
- X-linked complicated spastic paraplegia type 1 ORPHA:306617
- Birk-Barel syndrome ORPHA:166108
- Zellweger-like syndrome without peroxisomal anomalies ORPHA:50812
- Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ORPHA:137898
- PMM2-CDG ORPHA:79318
- ALG3-CDG ORPHA:79321
- MPDU1-CDG ORPHA:79323
- ALG8-CDG ORPHA:79325
- ALG2-CDG ORPHA:79326
- ALG1-CDG ORPHA:79327
- MGAT2-CDG ORPHA:79329
- DPAGT1-CDG ORPHA:86309
- POMT1-related limb-girdle muscular dystrophy R11 ORPHA:86812
- COG8-CDG ORPHA:95428
- Leukocyte adhesion deficiency type II ORPHA:99843
- POMT2-related limb-girdle muscular dystrophy R14 ORPHA:206559
- SLC35A1-CDG ORPHA:238459
- RFT1-CDG ORPHA:244310
- COG5-CDG ORPHA:263487
- COG4-CDG ORPHA:263501
- ALG11-CDG ORPHA:280071
- Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 ORPHA:280333
- SRD5A3-CDG ORPHA:324737
- Congenital muscular dystrophy with intellectual disability and severe epilepsy ORPHA:329178
- ISPD-related limb-girdle muscular dystrophy R20 ORPHA:352479
- Autosomal recessive cutis laxa type 2A ORPHA:357058
- Temtamy preaxial brachydactyly syndrome ORPHA:363417
- Autism spectrum disorder-epilepsy-arthrogryposis syndrome ORPHA:370943
- Congenital muscular dystrophy with cerebellar involvement ORPHA:370959
- Congenital muscular dystrophy with intellectual disability ORPHA:370968
- MAN1B1-CDG ORPHA:397941
- Brain-lung-thyroid syndrome ORPHA:209905
- Xeroderma pigmentosum-Cockayne syndrome complex ORPHA:220295
- Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome ORPHA:231556
- Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome ORPHA:263410
- Spinocerebellar ataxia type 32 ORPHA:276183
- Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome ORPHA:280384
- Severe intellectual disability and progressive spastic paraplegia ORPHA:280763
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation ORPHA:289266
- Intellectual disability-alacrima-achalasia syndrome ORPHA:289483
- Distal Xq28 microduplication syndrome ORPHA:293939
- 1p21.3 microdeletion syndrome ORPHA:293948
- Neonatal inflammatory skin and bowel disease ORPHA:294023
- Non-progressive cerebellar ataxia with intellectual disability ORPHA:314647
- Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome ORPHA:352333
- ANK3-related intellectual disability-sleep disturbance syndrome ORPHA:356996
- Primary non-essential cutis verticis gyrata ORPHA:357225
- Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome ORPHA:363523
- Intellectual disability-hyperkinetic movement-truncal ataxia syndrome ORPHA:369847
- Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome ORPHA:370022
- Optic atrophy-intellectual disability syndrome ORPHA:401777
- 3p25.3 microdeletion syndrome ORPHA:435638
- Combined oxidative phosphorylation defect type 23 ORPHA:444013
- Autosomal recessive spastic paraplegia type 9B ORPHA:447760
- Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ORPHA:457351
- 9q21.13 microdeletion syndrome ORPHA:531151
- B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome ORPHA:536467
- Combined oxidative phosphorylation defect type 39 ORPHA:565624
- WARS2-related combined oxidative phosphorylation defect ORPHA:572798
- Dystonia 28 ORPHA:589618
- AICA-ribosiduria ORPHA:250977
- ALG9-CDG ORPHA:79328
- Adult-onset autosomal recessive cerebellar ataxia ORPHA:284289
- 3-methylglutaconic aciduria type 1 ORPHA:67046
- Autosomal recessive spastic paraplegia type 54 ORPHA:320380
- Duchenne muscular dystrophy ORPHA:98896
- Dilated cardiomyopathy with ataxia ORPHA:66634
- DPM1-CDG ORPHA:79322
- Autosomal spastic paraplegia type 18 ORPHA:209951
- Ethylmalonic encephalopathy ORPHA:51188
- Progressive myoclonic epilepsy type 3 ORPHA:263516
- Laminin subunit alpha 2-related congenital muscular dystrophy ORPHA:258
- NARP syndrome ORPHA:644
- Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome ORPHA:88637
- Dravet syndrome ORPHA:33069
- Paroxysmal exertion-induced dyskinesia ORPHA:98811
- Autosomal recessive cerebellar ataxia-psychomotor delay syndrome ORPHA:284271
- Familial infantile myoclonic epilepsy ORPHA:352582
- Autosomal recessive spastic paraplegia type 15 ORPHA:100996
- ALG13-CDG ORPHA:324422
- Autosomal recessive spastic paraplegia type 26 ORPHA:101006
- Proximal myopathy with extrapyramidal signs ORPHA:401768
- Autosomal recessive dopa-responsive dystonia ORPHA:101150
- Beta-propeller protein-associated neurodegeneration ORPHA:329284
- Autosomal recessive spastic paraplegia type 20 ORPHA:101000
- Hereditary sensory and autonomic neuropathy due to TECPR2 mutation ORPHA:320385
- Progressive myoclonic epilepsy type 1 ORPHA:308
- DDOST-CDG ORPHA:300536
- Aminoacylase 1 deficiency ORPHA:137754
- Infantile dystonia-parkinsonism ORPHA:238455
- DPM3-CDG ORPHA:263494
- Autosomal recessive spastic paraplegia type 53 ORPHA:319199
- Autosomal recessive spastic paraplegia type 46 ORPHA:320391
- Familial thyroid dyshormonogenesis ORPHA:95716
- Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency ORPHA:88639
- Familial congenital mirror movements ORPHA:238722
- Spectrin-associated autosomal recessive cerebellar ataxia ORPHA:352403
- Isovaleric acidemia ORPHA:33
- MPI-CDG ORPHA:79319
- Hereditary orotic aciduria ORPHA:30
- Carnitine-acylcarnitine translocase deficiency ORPHA:159
- TMEM70-related mitochondrial encephalo-cardio-myopathy ORPHA:1194
- Genetic epilepsy with febrile seizure plus ORPHA:36387
- Familial acute necrotizing encephalopathy ORPHA:88619
- Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome ORPHA:486815
- Spinocerebellar ataxia type 21 ORPHA:98773
- Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency ORPHA:363432
- Cerebellar ataxia, Cayman type ORPHA:94122
- Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy ORPHA:79096
- Brain dopamine-serotonin vesicular transport disease ORPHA:352649
- Ataxia-telangiectasia-like disorder ORPHA:251347
- Leber congenital amaurosis ORPHA:65
- Growth delay due to insulin-like growth factor I resistance ORPHA:73273
- COASY protein-associated neurodegeneration ORPHA:397725
- Homocystinuria due to cystathionine beta-synthase deficiency ORPHA:394
- Pseudohypoparathyroidism type 1A ORPHA:79443
- Trichothiodystrophy ORPHA:33364
- Mevalonic aciduria ORPHA:29
- Ataxia-telangiectasia ORPHA:100
- Presynaptic congenital myasthenic syndromes ORPHA:98914
- Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome ORPHA:330054
- Early-onset obesity-hyperphagia-severe developmental delay syndrome ORPHA:99704
- Saethre-Chotzen syndrome ORPHA:794
- Refsum disease ORPHA:773
- Hereditary hyperekplexia ORPHA:3197
- Cleft lip/palate-ectodermal dysplasia syndrome ORPHA:3253
- Non-syndromic bicoronal craniosynostosis ORPHA:35099
- Chronic visceral acid sphingomyelinase deficiency ORPHA:77293
- Alpha-N-acetylgalactosaminidase deficiency ORPHA:3137
- Alpha-N-acetylgalactosaminidase deficiency type 1 ORPHA:79279
- Alpha-N-acetylgalactosaminidase deficiency type 2 ORPHA:79280
- Alpha-N-acetylgalactosaminidase deficiency type 3 ORPHA:79281
- Autosomal recessive hyperinsulinism due to Kir6.2 deficiency ORPHA:79644
- Pituitary stalk interruption syndrome ORPHA:95496
- Autosomal dominant dopa-responsive dystonia ORPHA:98808
- Isolated permanent neonatal diabetes mellitus ORPHA:99885
- Autosomal dominant spastic paraplegia type 10 ORPHA:100991
- CNTNAP2-related developmental and epileptic encephalopathy ORPHA:163681
- Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease ORPHA:163746
- Alpers-Huttenlocher syndrome ORPHA:726
- Hyperprolinemia type 1 ORPHA:419
- Timothy syndrome ORPHA:65283
- Timothy syndrome type 1 ORPHA:595098
- Timothy syndrome type 2 ORPHA:595105
- Atypical Timothy syndrome ORPHA:595109
- Rhizomelic chondrodysplasia punctata ORPHA:177
- Rhizomelic chondrodysplasia punctata type 3 ORPHA:309803
- Rhizomelic chondrodysplasia punctata type 1 ORPHA:309789
- Rhizomelic chondrodysplasia punctata type 2 ORPHA:309796
- Rhizomelic chondrodysplasia punctata type 5 ORPHA:468717
- Infantile neurovisceral acid sphingomyelinase deficiency ORPHA:77292
- Isolated cytochrome C oxidase deficiency ORPHA:254905
- Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ORPHA:477814
- Glycine encephalopathy ORPHA:407
- Neonatal glycine encephalopathy ORPHA:289857
- Infantile glycine encephalopathy ORPHA:289860
- Atypical glycine encephalopathy ORPHA:289863
- Mucopolysaccharidosis type 1 ORPHA:579
- Bloom syndrome ORPHA:125
- Legius syndrome ORPHA:137605
- Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy ORPHA:255235
- MOGS-CDG ORPHA:79330
- Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome ORPHA:652487
- Acrogeria ORPHA:2500
- Griscelli syndrome ORPHA:381
- Griscelli syndrome type 1 ORPHA:79476
- Griscelli syndrome type 2 ORPHA:79477
- Griscelli syndrome type 3 ORPHA:79478
- Pyridoxine-dependent-developmental and epileptic encephalopathy ORPHA:3006
- Hyperammonemia due to N-acetylglutamate synthase deficiency ORPHA:927
- Isolated succinate-CoQ reductase deficiency ORPHA:3208
- Familial glucocorticoid deficiency ORPHA:361
- Osteopetrosis with renal tubular acidosis ORPHA:2785
- CINCA syndrome ORPHA:1451
- Xeroderma pigmentosum ORPHA:910
- Intellectual disability-expressive aphasia-facial dysmorphism syndrome ORPHA:436151
- X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome ORPHA:324410
- X-linked intellectual disability-hypotonia-movement disorder syndrome ORPHA:457260
- Adenylosuccinate lyase deficiency ORPHA:46
- STT3B-CDG ORPHA:370924
- PGM3-CDG ORPHA:443811
- 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome ORPHA:445038
- Combined oxidative phosphorylation defect type 27 ORPHA:477774
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome ORPHA:404481
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency ORPHA:284282
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency ORPHA:404493
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency ORPHA:404499
- RARS-related autosomal recessive hypomyelinating leukodystrophy ORPHA:438114
- PCNA-related progressive neurodegenerative photosensitivity syndrome ORPHA:438134
- Fatty acyl-CoA reductase 1 deficiency ORPHA:438178
- Congenital insensitivity to pain with severe intellectual disability ORPHA:453510
- Seizures-scoliosis-macrocephaly syndrome ORPHA:466926
- VPS11-related autosomal recessive hypomyelinating leukodystrophy ORPHA:466934
- Intellectual disability-epilepsy-extrapyramidal syndrome ORPHA:468620
- Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome ORPHA:477673
- Primary hypomagnesemia-refractory seizures-intellectual disability syndrome ORPHA:564178
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder ORPHA:589547
- Childhood-onset Steinert myotonic dystrophy ORPHA:589824
- Juvenile-onset Steinert myotonic dystrophy ORPHA:589827
- GNAO1-related developmental delay-seizures-movement disorder spectrum ORPHA:592564
- MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome ORPHA:597874
- Neutral lipid storage disease with ichthyosis ORPHA:98907
- Peroxisomal acyl-CoA oxidase deficiency ORPHA:2971
- ALG12-CDG ORPHA:79324
- Hereditary methemoglobinemia ORPHA:621
- Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency ORPHA:324262
- L-2-hydroxyglutaric aciduria ORPHA:79314
- Early infantile developmental and epileptic encephalopathy ORPHA:1934
- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome ORPHA:415
- Lennox-Gastaut syndrome ORPHA:2382
- KCNQ2-related developmental and epileptic encephalopathy ORPHA:439218
- Progressive external ophthalmoplegia-myopathy-emaciation syndrome ORPHA:352447
- Spinocerebellar ataxia type 14 ORPHA:98763
- Non-specific early-onset epileptic encephalopathy ORPHA:442835
- Epilepsy with myoclonic-atonic seizures ORPHA:1942
- Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome ORPHA:466794
- Posterior column ataxia-retinitis pigmentosa syndrome ORPHA:88628
- Autosomal recessive spastic paraplegia type 56 ORPHA:320411
- Autosomal recessive spastic paraplegia type 75 ORPHA:459056
- GM1 gangliosidosis ORPHA:354
- GM1 gangliosidosis type 1 ORPHA:79255
- GM1 gangliosidosis type 2 ORPHA:79256
- GM1 gangliosidosis type 3 ORPHA:79257
- Hartnup disease ORPHA:2116
- Moyamoya disease ORPHA:2573
- Methylmalonic acidemia with homocystinuria ORPHA:26
- Methylmalonic acidemia with homocystinuria, type cblC ORPHA:79282
- Methylmalonic acidemia with homocystinuria, type cblD ORPHA:79283
- Methylmalonic acidemia with homocystinuria type cblF ORPHA:79284
- Methylmalonic acidemia with homocystinuria, type cblJ ORPHA:369955
- Methylmalonic acidemia with homocystinuria, type cblX ORPHA:369962
- Alpha-mannosidosis ORPHA:61
- Fatal infantile cytochrome C oxidase deficiency ORPHA:1561
- Isolated complex III deficiency ORPHA:1460
- Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 ORPHA:168566
- Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome ORPHA:2269
- Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome ORPHA:480864
- Infantile inflammatory bowel disease with neurological involvement ORPHA:565788
- Aicardi-Goutières syndrome ORPHA:51
- Infantile choroidocerebral calcification syndrome ORPHA:1313
- Cataract-hypertrichosis-intellectual disability syndrome ORPHA:1375
- Dysequilibrium syndrome ORPHA:1766
- Moynahan syndrome ORPHA:2574
- Spastic paraplegia-glaucoma-intellectual disability syndrome ORPHA:2818
- Autosomal recessive spastic paraplegia type 11 ORPHA:2822
- Alopecia-intellectual disability syndrome ORPHA:2850
- Piebald trait-neurologic defects syndrome ORPHA:2885
- Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome ORPHA:3011
- Pelizaeus-Merzbacher disease ORPHA:702
- Pelizaeus-Merzbacher disease, connatal form ORPHA:280210
- Pelizaeus-Merzbacher disease, classic form ORPHA:280219
- Pelizaeus-Merzbacher disease, transitional form ORPHA:280224
- Pelizaeus-Merzbacher disease in female carriers ORPHA:280229
- Null syndrome ORPHA:280234
- Allan-Herndon-Dudley syndrome ORPHA:59
- X-linked progressive cerebellar ataxia ORPHA:1175
- Hereditary bullous dystrophy, macular type ORPHA:1867
- Laryngeal abductor paralysis-intellectual disability syndrome ORPHA:2375
- X-linked intellectual disability-psychosis-macroorchidism syndrome ORPHA:3077
- Pyruvate dehydrogenase deficiency ORPHA:765
- Pyruvate dehydrogenase E3 deficiency ORPHA:2394
- Pyruvate dehydrogenase E1-alpha deficiency ORPHA:79243
- Pyruvate dehydrogenase E2 deficiency ORPHA:79244
- Pyruvate dehydrogenase phosphatase deficiency ORPHA:79246
- Pyruvate dehydrogenase E1-beta deficiency ORPHA:255138
- Pyruvate dehydrogenase E3-binding protein deficiency ORPHA:255182
- Glycogen storage disease due to phosphoglycerate kinase 1 deficiency ORPHA:713
- Monoamine oxidase A deficiency ORPHA:3057
- X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency ORPHA:423479
- CLCN4-related X-linked intellectual disability syndrome ORPHA:485350
- ANE syndrome ORPHA:157954
- Guanidinoacetate methyltransferase deficiency ORPHA:382
- Proximal 16p11.2 microduplication syndrome ORPHA:370079
- AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome ORPHA:412069
- Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome ORPHA:447997
- Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome ORPHA:488613
- Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome ORPHA:543470
- POMGNT2-related limb-girdle muscular dystrophy R24 ORPHA:565899
- Serine biosynthesis pathway deficiency, infantile/juvenile form ORPHA:583595
- 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form ORPHA:79351
- 3-phosphoserine phosphatase deficiency, infantile/juvenile form ORPHA:79350
- Phosphoserine aminotransferase deficiency, infantile/juvenile form ORPHA:284417
- PUM1-associated developmental disability-ataxia-seizure syndrome ORPHA:589515
- Argininosuccinic aciduria ORPHA:23
- ICF syndrome ORPHA:2268
- Hereditary sensory and autonomic neuropathy type 4 ORPHA:642
- Purine nucleoside phosphorylase deficiency ORPHA:760
- Mitochondrial myopathy and sideroblastic anemia ORPHA:2598
- Autosomal recessive cerebelloparenchymal disorder type 3 ORPHA:1170
- Giant axonal neuropathy ORPHA:643
- Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ORPHA:1933
- Beta-ketothiolase deficiency ORPHA:134
- Autosomal recessive cerebellar ataxia due to STUB1 deficiency ORPHA:412057
- Multiple benign circumferential skin creases on limbs ORPHA:2505
- Bilateral striopallidodentate calcinosis ORPHA:1980
- Microcephaly-lymphedema-chorioretinopathy syndrome ORPHA:2526
- Amelocerebrohypohidrotic syndrome ORPHA:1946
- Marinesco-Sjögren syndrome ORPHA:559
- Triple A syndrome ORPHA:869
- Alström syndrome ORPHA:64
- Diamond-Blackfan anemia ORPHA:124
- Rett syndrome ORPHA:778
- Dyskeratosis congenita ORPHA:1775
- Hoyeraal-Hreidarsson syndrome ORPHA:3322
- HSD10 disease ORPHA:391417
- HSD10 disease, atypical type ORPHA:85295
- HSD10 disease, infantile type ORPHA:391428
- HSD10 disease, neonatal type ORPHA:391457
- Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome ORPHA:397933
- X-linked myotubular myopathy-abnormal genitalia syndrome ORPHA:456328
- GM3 synthase deficiency ORPHA:370933
- Alacrimia-choreoathetosis-liver dysfunction syndrome ORPHA:404454
- Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency ORPHA:453521
- Polyendocrine-polyneuropathy syndrome ORPHA:453533
- SYNGAP1-related developmental and epileptic encephalopathy ORPHA:544254
- FOXG1 syndrome ORPHA:561854
- FOXG1 syndrome due to intragenic alteration ORPHA:598164
- FOXG1 syndrome due to 14q12 microdeletion ORPHA:261144
- Congenital-onset Steinert myotonic dystrophy ORPHA:589821
- Non-specific syndromic intellectual disability ORPHA:528084
- Isolated childhood apraxia of speech ORPHA:209908
- Alternating hemiplegia ORPHA:209978
- Alternating hemiplegia of childhood ORPHA:2131
- Benign nocturnal alternating hemiplegia of childhood ORPHA:209973
- Inherited congenital spastic tetraplegia ORPHA:210141
- Rare genetic autonomic nervous system disorder ORPHA:434786
- Congenital central hypoventilation syndrome ORPHA:661
- Haddad syndrome ORPHA:99803
- Harlequin syndrome ORPHA:199282
- Cramp-fasciculation syndrome ORPHA:581271
- USP18 deficiency ORPHA:481665
- Genetic primary orthostatic disorder ORPHA:521232
- Genetic primary orthostatic hypotension ORPHA:448426
- Familial dysautonomia ORPHA:1764
- Young-onset Parkinson disease ORPHA:2828
- Peripheral motor neuropathy-dysautonomia syndrome ORPHA:2400
- Dopamine beta-hydroxylase deficiency ORPHA:230
- Hereditary late-onset Parkinson disease ORPHA:411602
- Postural orthostatic tachycardia syndrome due to NET deficiency ORPHA:443236
- Recessive KLHL7-related disorder ORPHA:603699
- Rare genetic odontologic disease ORPHA:77830
- Dentin dysplasia-sclerotic bones syndrome ORPHA:99792
- Rare disease with dentinogenesis imperfecta ORPHA:167762
- Bruck syndrome ORPHA:2771
- Classical Ehlers-Danlos syndrome ORPHA:287
- Osteogenesis imperfecta type 3 ORPHA:216812
- Osteogenesis imperfecta type 4 ORPHA:216820
- Classical-like Ehlers-Danlos syndrome type 1 ORPHA:230839
- Malformative syndrome with dentinogenesis imperfecta ORPHA:180766
- Schimke immuno-osseous dysplasia ORPHA:1830
- Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome ORPHA:71267
- Odontochondrodysplasia ORPHA:166272
- Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia ORPHA:166277
- Rare genetic odontal or periodontal disorder ORPHA:420755
- Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome ORPHA:314555
- Dental ankylosis ORPHA:1077
- Hereditary gingival fibromatosis ORPHA:2024
- Fused mandibular incisors ORPHA:2287
- Amelogenesis imperfecta ORPHA:88661
- Hypoplastic amelogenesis imperfecta ORPHA:100031
- Hypocalcified amelogenesis imperfecta ORPHA:100032
- Hypomaturation amelogenesis imperfecta ORPHA:100033
- Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism ORPHA:100034
- Anodontia ORPHA:99797
- Oligodontia ORPHA:99798
- Hereditary dentin defect ORPHA:167759
- Dentin dysplasia ORPHA:1653
- Dentin dysplasia type I ORPHA:99789
- Dentin dysplasia type II ORPHA:99791
- Atypical dentin dysplasia due to SMOC2 deficiency ORPHA:314721
- Dentinogenesis imperfecta ORPHA:49042
- Primary failure of tooth eruption ORPHA:412206
- Cerebellar-facial-dental syndrome ORPHA:444072
- Oculoskeletodental syndrome ORPHA:557003
- Anterior maxillary protrusion-strabismus-intellectual disability syndrome ORPHA:562559
- Erythrokeratodermia-cardiomyopathy syndrome ORPHA:476096
- SATB2-associated syndrome ORPHA:576278
- SATB2-associated syndrome due to a chromosomal rearrangement ORPHA:251028
- SATB2-associated syndrome due to a pathogenic variant ORPHA:576283
- Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome ORPHA:447961
- Hereditary angioedema ORPHA:91378
- Genetic otorhinolaryngologic disease ORPHA:466084
- Rare genetic deafness ORPHA:96210
- Non-syndromic genetic deafness ORPHA:87884
- Rare autosomal recessive non-syndromic sensorineural deafness type DFNB ORPHA:90636
- Rare mitochondrial non-syndromic sensorineural deafness ORPHA:90641
- Rare X-linked non-syndromic sensorineural deafness type DFN ORPHA:90625
- Rare autosomal dominant non-syndromic sensorineural deafness type DFNA ORPHA:90635
- Syndromic genetic deafness ORPHA:90642
- Duane retraction syndrome with congenital deafness ORPHA:529574
- Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome ORPHA:508476
- Congenital vertebral-cardiac-renal anomalies syndrome ORPHA:521438
- Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome ORPHA:521445
- 1p35.2 microdeletion syndrome ORPHA:456298
- H syndrome ORPHA:168569
- Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome ORPHA:171848
- MEDNIK syndrome ORPHA:171851
- EAST syndrome ORPHA:199343
- Xeroderma pigmentosum-Cockayne syndrome complex ORPHA:220295
- Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome ORPHA:228012
- Familial steroid-resistant nephrotic syndrome with sensorineural deafness ORPHA:280406
- Dysmorphism-conductive hearing loss-heart defect syndrome ORPHA:289553
- Hypertelorism-preauricular sinus-punctual pits-deafness syndrome ORPHA:293958
- Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome ORPHA:293967
- Connective tissue disorder due to lysyl hydroxylase-3 deficiency ORPHA:300284
- Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome ORPHA:300333
- Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome ORPHA:314404
- Chudley-McCullough syndrome ORPHA:314597
- Sinoatrial node dysfunction and deafness ORPHA:324321
- Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy ORPHA:329336
- Hypotrichosis-deafness syndrome ORPHA:330029
- Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome ORPHA:330054
- MEGDEL syndrome ORPHA:352328
- High myopia-sensorineural deafness syndrome ORPHA:363396
- Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome ORPHA:363649
- Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome ORPHA:369939
- Congenital disorder of glycosylation with deafness as a major feature ORPHA:371212
- CHIME syndrome ORPHA:3474
- RFT1-CDG ORPHA:244310
- Temtamy preaxial brachydactyly syndrome ORPHA:363417
- Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome ORPHA:397744
- Autosomal recessive distal renal tubular acidosis ORPHA:402041
- Wolfram-like syndrome ORPHA:411590
- Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome ORPHA:436174
- PCNA-related progressive neurodegenerative photosensitivity syndrome ORPHA:438134
- Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome ORPHA:440354
- Hyperostosis cranialis interna ORPHA:443098
- Mandibulofacial dysostosis with alopecia ORPHA:443995
- Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome ORPHA:445062
- Progressive autosomal recessive ataxia-deafness syndrome ORPHA:448251
- Kearns-Sayre syndrome ORPHA:480
- MELAS ORPHA:550
- CHARGE syndrome ORPHA:138
- 22q11.2 deletion syndrome ORPHA:567
- Full NF2-related schwannomatosis ORPHA:637
- Norrie disease ORPHA:649
- Townes-Brocks syndrome ORPHA:857
- BOR syndrome ORPHA:107
- Treacher-Collins syndrome ORPHA:861
- Albinism-deafness syndrome ORPHA:998
- Ermine phenotype ORPHA:999
- Ocular albinism with late-onset sensorineural deafness ORPHA:1000
- Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome ORPHA:3085
- KID syndrome ORPHA:477
- Pendred syndrome ORPHA:705
- Alport syndrome ORPHA:63
- X-linked Alport syndrome ORPHA:88917
- Autosomal dominant Alport syndrome ORPHA:88918
- Autosomal recessive Alport syndrome ORPHA:88919
- X-linked Alport syndrome-diffuse leiomyomatosis ORPHA:1018
- Digenic Alport syndrome ORPHA:653722
- Cockayne syndrome ORPHA:191
- COFS syndrome ORPHA:1466
- Cockayne syndrome type 1 ORPHA:90321
- Cockayne syndrome type 2 ORPHA:90322
- Cockayne syndrome type 3 ORPHA:90324
- Usher syndrome ORPHA:886
- Usher syndrome type 3 ORPHA:231183
- Usher syndrome type 1 ORPHA:231169
- Usher syndrome type 2 ORPHA:231178
- Waardenburg syndrome ORPHA:3440
- Waardenburg syndrome type 1 ORPHA:894
- Waardenburg syndrome type 2 ORPHA:895
- Waardenburg syndrome type 3 ORPHA:896
- Wolfram syndrome ORPHA:3463
- Stickler syndrome ORPHA:828
- Stickler syndrome type 1 ORPHA:90653
- Stickler syndrome type 2 ORPHA:90654
- Autosomal recessive Stickler syndrome ORPHA:250984
- Waardenburg-Shah syndrome ORPHA:897
- Noonan syndrome with multiple lentigines ORPHA:500
- Fraser syndrome ORPHA:2052
- Mitochondrial myopathy-lactic acidosis-deafness syndrome ORPHA:2597
- Alström syndrome ORPHA:64
- Arthrogryposis-like hand anomaly-sensorineural deafness syndrome ORPHA:1144
- Lethal ataxia with deafness and optic atrophy ORPHA:1187
- Ataxia-deafness-intellectual disability syndrome ORPHA:1188
- Burn-McKeown syndrome ORPHA:1200
- Maxillonasal dysplasia ORPHA:1248
- Cataract-ataxia-deafness syndrome ORPHA:1368
- Richards-Rundle syndrome ORPHA:1399
- Xq21 microdeletion syndrome ORPHA:1435
- Corneal dystrophy-perceptive deafness syndrome ORPHA:1490
- Craniofacial-deafness-hand syndrome ORPHA:1529
- Ectodermal dysplasia-sensorineural deafness syndrome ORPHA:1883
- Cleft lip/palate-deafness-sacral lipoma syndrome ORPHA:2003
- Gingival fibromatosis-progressive deafness syndrome ORPHA:2027
- Hirschsprung disease-deafness-polydactyly syndrome ORPHA:2155
- Palmoplantar keratoderma-deafness syndrome ORPHA:2202
- Ramos-Arroyo syndrome ORPHA:1051
- Hypoparathyroidism-sensorineural deafness-renal disease syndrome ORPHA:2237
- Keratoderma hereditarium mutilans ORPHA:494
- Thickened earlobes-conductive deafness syndrome ORPHA:2405
- Lowe-Kohn-Cohen syndrome ORPHA:2408
- Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome ORPHA:2502
- Conductive deafness-malformed external ear syndrome ORPHA:3216
- RNF13-related severe early-onset epileptic encephalopathy ORPHA:544503
- Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome ORPHA:397623
- Otopalatodigital syndrome type 2 ORPHA:90652
- Oculoskeletodental syndrome ORPHA:557003
- Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome ORPHA:589856
- Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome ORPHA:589442
- Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome ORPHA:500144
- Mitchell Syndrome ORPHA:631248
- Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ORPHA:457351
- Gemignani syndrome ORPHA:2074
- Syndromic sensorineural deafness due to combined oxidative phosphorylation defect ORPHA:457223
- Nathalie syndrome ORPHA:2663
- Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome ORPHA:231720
- MYH9-related syndromic thrombocytopenia ORPHA:182050
- Microcephaly-deafness-intellectual disability syndrome ORPHA:2533
- Myoclonus-cerebellar ataxia-deafness syndrome ORPHA:2589
- N syndrome ORPHA:2608
- Nephropathy-deafness-hyperparathyroidism syndrome ORPHA:2668
- Nephrosis-deafness-urinary tract-digital malformations syndrome ORPHA:2669
- Neutropenia-monocytopenia-deafness syndrome ORPHA:2690
- Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome ORPHA:2698
- Olivopontocerebellar atrophy-deafness syndrome ORPHA:2732
- Orofaciodigital syndrome type 1 ORPHA:2750
- Orofaciodigital syndrome type 2 ORPHA:2751
- Orofaciodigital syndrome type 4 ORPHA:2753
- Orofaciodigital syndrome type 6 ORPHA:2754
- Spastic paraparesis-deafness syndrome ORPHA:2815
- Spastic paraplegia-nephritis-deafness syndrome ORPHA:2820
- Perrault syndrome ORPHA:2855
- Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome ORPHA:2866
- Deaf blind hypopigmentation syndrome, Yemenite type ORPHA:3214
- Deafness-small bowel diverticulosis-neuropathy syndrome ORPHA:3217
- Deafness-epiphyseal dysplasia-short stature syndrome ORPHA:3218
- Fountain syndrome ORPHA:3219
- Deafness-enamel hypoplasia-nail defects syndrome ORPHA:3220
- Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome ORPHA:3224
- Hearing loss-familial salivary gland insensitivity to aldosterone syndrome ORPHA:3225
- Deafness-oligodontia syndrome ORPHA:3230
- Deafness-onychodystrophy syndrome ORPHA:3231
- Deafness-ear malformation-facial palsy syndrome ORPHA:3232
- Cochleosaccular degeneration-cataract syndrome ORPHA:3233
- Progressive deafness with stapes fixation ORPHA:3235
- Multiple synostoses syndrome ORPHA:3237
- Cardiospondylocarpofacial syndrome ORPHA:3238
- Deafness-vitiligo-achalasia syndrome ORPHA:3239
- Deafness-craniofacial syndrome ORPHA:3241
- Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome ORPHA:1192
- Cataract-deafness-hypogonadism syndrome ORPHA:1383
- Caudal appendage-deafness syndrome ORPHA:1123
- Otopalatodigital syndrome type 1 ORPHA:90650
- Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome ORPHA:1171
- Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome ORPHA:3240
- Tietz syndrome ORPHA:42665
- Thiamine-responsive megaloblastic anemia syndrome ORPHA:49827
- Lipodystrophy-intellectual disability-deafness syndrome ORPHA:50811
- Branchiogenic deafness syndrome ORPHA:50815
- Mohr-Tranebjaerg syndrome ORPHA:52368
- Branchiootic syndrome ORPHA:52429
- X-linked Charcot-Marie-Tooth disease ORPHA:64747
- X-linked Charcot-Marie-Tooth disease type 5 ORPHA:99014
- X-linked Charcot-Marie-Tooth disease type 1 ORPHA:101075
- X-linked Charcot-Marie-Tooth disease type 2 ORPHA:101076
- X-linked Charcot-Marie-Tooth disease type 3 ORPHA:101077
- X-linked Charcot-Marie-Tooth disease type 4 ORPHA:101078
- X-linked Charcot-Marie-Tooth disease type 6 ORPHA:352675
- Sensorineural hearing loss-early graying-essential tremor syndrome ORPHA:66633
- Bosley-Salih-Alorainy syndrome ORPHA:69737
- Athabaskan brainstem dysgenesis syndrome ORPHA:69739
- Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome ORPHA:71267
- Split hand-split foot-deafness syndrome ORPHA:71271
- Developmental malformations-deafness-dystonia syndrome ORPHA:79107
- Deafness-intellectual disability syndrome, Martin-Probst type ORPHA:85321
- Bartter syndrome type 4 ORPHA:89938
- Deafness with labyrinthine aplasia, microtia, and microdontia ORPHA:90024
- Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome ORPHA:90103
- Deafness-hypogonadism syndrome ORPHA:90646
- Jervell and Lange-Nielsen syndrome ORPHA:90647
- Charcot-Marie-Tooth disease type 1E ORPHA:90658
- Deafness-infertility syndrome ORPHA:94064
- Riboflavin transporter deficiency ORPHA:97229
- RFVT2-related riboflavin transporter deficiency ORPHA:572543
- RFVT3-related riboflavin transporter deficiency ORPHA:572550
- Neuropathy with hearing impairment ORPHA:139512
- Stapes ankylosis with broad thumbs and toes ORPHA:140917
- Bilateral microtia-deafness-cleft palate syndrome ORPHA:140963
- Renal caliceal diverticuli-deafness syndrome ORPHA:2838
- Spondyloepiphyseal dysplasia, MacDermot type ORPHA:163668
- Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease ORPHA:163746
- Autosomal dominant otospondylomegaepiphyseal dysplasia ORPHA:166100
- X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome ORPHA:500188
- Combined oxidative phosphorylation defect type 25 ORPHA:447954
- Infantile multisystem neurologic-endocrine-pancreatic disease ORPHA:456312
- Hereditary sensory neuropathy-deafness-dementia syndrome ORPHA:456318
- Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome ORPHA:494439
- DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome ORPHA:494444
- Split-foot malformation-mesoaxial polydactyly syndrome ORPHA:488232
- Auditory neuropathy-optic atrophy syndrome ORPHA:542585
- Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome ORPHA:543470
- Oculogastrointestinal-neurodevelopmental syndrome ORPHA:611201
- Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome ORPHA:611207
- Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome ORPHA:603494
- SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome ORPHA:633014
- SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome ORPHA:633021
- SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome ORPHA:633024
- Wolf-Hirschhorn syndrome ORPHA:280
- Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome ORPHA:662179
- Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome ORPHA:684216
- Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome ORPHA:688581
- Turnpenny-Fry syndrome ORPHA:688642
- Adult-onset progressive leukoencephalopathy-early-onset deafness ORPHA:652532
- PBX1-related congenital anomalies of kidney-urinary tract syndrome ORPHA:656130
- Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome ORPHA:659975
- Familial nasal acilia ORPHA:922
- Isolated congenital anosmia ORPHA:88620
- Genetic otorhinolaryngological malformation ORPHA:435603
- Pinnae and external auditory canal anomaly ORPHA:156243
- Microtia ORPHA:83463
- Anotia ORPHA:93976
- External auditory canal aplasia/hypoplasia ORPHA:141074
- External auditory canal atresia-vertical talus-hypertelorism syndrome ORPHA:3023
- Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome ORPHA:397623
- X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome ORPHA:500188
- Genetic nose and cavum anomaly ORPHA:435606
- Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome ORPHA:2250
- Burn-McKeown syndrome ORPHA:1200
- Blepharonasofacial malformation syndrome ORPHA:1252
- Lacrimoauriculodentodigital syndrome ORPHA:2363
- Bifid nose ORPHA:2695
- Radial ray hypoplasia-choanal atresia syndrome ORPHA:3026
- Intractable diarrhea-choanal atresia-eye anomalies syndrome ORPHA:137622
- BNAR syndrome ORPHA:217266
- Familial congenital nasolacrimal duct obstruction ORPHA:451612
- Lymphedema-posterior choanal atresia syndrome ORPHA:99141
- Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome ORPHA:589856
- Genetic larynx anomaly ORPHA:435609
- Congenital laryngomalacia ORPHA:2373
- Isolated congenital laryngeal web ORPHA:2374
- Larynx atresia ORPHA:1202
- Congenital velopharyngeal incompetence ORPHA:2291
- Laryngeal abductor paralysis ORPHA:2808
- Genetic tracheal anomaly ORPHA:435612
- Rare genetic cardiac disease ORPHA:98054
- Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome ORPHA:478049
- Genetic cardiac malformation ORPHA:477805
- FLNA-related X-linked myxomatous valvular dysplasia ORPHA:555877
- Ebstein malformation of the tricuspid valve ORPHA:1880
- Common arterial trunk ORPHA:3384
- Common arterial trunk with pulmonary dominance and interrupted aortic arch ORPHA:665058
- Common arterial trunk with aortic dominance ORPHA:665044
- Familial idiopathic dilatation of the right atrium ORPHA:1677
- Left ventricular noncompaction ORPHA:54260
- Inherited arrhythmogenic cardiomyopathy ORPHA:247
- Rare familial disorder with hypertrophic cardiomyopathy ORPHA:99739
- Glycogen storage disease with hypertrophic cardiomyopathy ORPHA:217572
- Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease ORPHA:439854
- Glycogen storage disease due to acid maltase deficiency ORPHA:365
- Glycogen storage disease due to acid maltase deficiency, infantile onset ORPHA:308552
- Glycogen storage disease due to acid maltase deficiency, late-onset ORPHA:420429
- Glycogen storage disease due to glycogen debranching enzyme deficiency ORPHA:366
- Danon disease ORPHA:34587
- Glycogen storage disease due to muscle and heart glycogen synthase deficiency ORPHA:137625
- Lysosomal disease with hypertrophic cardiomyopathy ORPHA:217581
- Beta-mannosidosis ORPHA:118
- Fucosidosis ORPHA:349
- Glycogen storage disease due to acid maltase deficiency ORPHA:365
- Glycogen storage disease due to acid maltase deficiency, infantile onset ORPHA:308552
- Glycogen storage disease due to acid maltase deficiency, late-onset ORPHA:420429
- Fabry disease ORPHA:324
- Mucopolysaccharidosis type 2 ORPHA:580
- Mucopolysaccharidosis type 2, severe form ORPHA:217085
- Mucopolysaccharidosis type 2, attenuated form ORPHA:217093
- Hurler syndrome ORPHA:93473
- Hurler-Scheie syndrome ORPHA:93476
- Mitochondrial disease with hypertrophic cardiomyopathy ORPHA:217587
- MELAS ORPHA:550
- MERRF ORPHA:551
- Mitochondrial DNA-related cardiomyopathy and hearing loss ORPHA:1349
- Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome ORPHA:1369
- Leber plus disease ORPHA:99718
- Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ORPHA:314637
- Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome ORPHA:319678
- Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation ORPHA:324525
- Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency ORPHA:352563
- Combined oxidative phosphorylation defect type 17 ORPHA:369913
- Combined oxidative phosphorylation defect type 23 ORPHA:444013
- Ocular anomalies-axonal neuropathy-developmental delay syndrome ORPHA:496790
- Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ORPHA:457185
- QRSL1-related combined oxidative phosphorylation defect ORPHA:570491
- 1p36.33 duplication syndrome ORPHA:656279
- Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy ORPHA:217591
- Mitochondrial trifunctional protein deficiency ORPHA:746
- Carnitine-acylcarnitine translocase deficiency ORPHA:159
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ORPHA:5
- Multiple acyl-CoA dehydrogenase deficiency ORPHA:26791
- Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type ORPHA:394529
- Multiple acyl-CoA dehydrogenase deficiency, mild type ORPHA:394532
- Very long chain acyl-CoA dehydrogenase deficiency ORPHA:26793
- Acyl-CoA dehydrogenase 9 deficiency ORPHA:99901
- Syndrome associated with hypertrophic cardiomyopathy ORPHA:217595
- Friedreich ataxia ORPHA:95
- Steinert myotonic dystrophy ORPHA:273
- Childhood-onset Steinert myotonic dystrophy ORPHA:589824
- Juvenile-onset Steinert myotonic dystrophy ORPHA:589827
- Adult-onset Steinert myotonic dystrophy ORPHA:589830
- Late-onset Steinert myotonic dystrophy ORPHA:589833
- Congenital-onset Steinert myotonic dystrophy ORPHA:589821
- Beckwith-Wiedemann syndrome ORPHA:116
- Beckwith-Wiedemann syndrome due to 11p15 microduplication ORPHA:96076
- Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 ORPHA:96193
- Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 ORPHA:231117
- Beckwith-Wiedemann syndrome due to CDKN1C mutation ORPHA:231120
- Beckwith-Wiedemann syndrome due to 11p15 microdeletion ORPHA:231127
- Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion ORPHA:231130
- Beckwith-Wiedemann syndrome due to NSD1 mutation ORPHA:238613
- Cardiomyopathy-hypotonia-lactic acidosis syndrome ORPHA:91130
- Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome ORPHA:228012
- Desminopathy ORPHA:98909
- Costello syndrome ORPHA:3071
- Noonan syndrome-like disorder with loose anagen hair ORPHA:2701
- Noonan syndrome ORPHA:648
- Noonan syndrome with multiple lentigines ORPHA:500
- Noonan syndrome-like disorder with juvenile myelomonocytic leukemia ORPHA:363972
- Alpha-B crystallin-related late-onset myopathy ORPHA:399058
- Cardiofaciocutaneous syndrome ORPHA:1340
- Genetic cardiac rhythm disease ORPHA:101934
- Congenital long QT syndrome ORPHA:768
- Timothy syndrome ORPHA:65283
- Timothy syndrome type 1 ORPHA:595098
- Timothy syndrome type 2 ORPHA:595105
- Atypical Timothy syndrome ORPHA:595109
- Jervell and Lange-Nielsen syndrome ORPHA:90647
- Romano-Ward syndrome ORPHA:101016
- Lown-Ganong-Levine syndrome ORPHA:844
- Familial progressive cardiac conduction defect ORPHA:871
- Atrial standstill ORPHA:1344
- Holt-Oram syndrome ORPHA:392
- Heart-hand syndrome type 3 ORPHA:1342
- Heart-hand syndrome type 2 ORPHA:1350
- Brachydactyly-long thumb syndrome ORPHA:2946
- Atrial septal defect-atrioventricular conduction defects syndrome ORPHA:1479
- His bundle tachycardia ORPHA:3283
- Catecholaminergic polymorphic ventricular tachycardia ORPHA:3286
- Brugada syndrome ORPHA:130
- Familial atrial fibrillation ORPHA:334
- Congenital short QT syndrome ORPHA:51083
- Torsade-de-pointes syndrome with short coupling interval ORPHA:51084
- Congenital heart block ORPHA:60041
- Histiocytoid cardiomyopathy ORPHA:137675
- Hereditary sick sinus syndrome ORPHA:166282
- Heart-hand syndrome, Slovenian type ORPHA:168796
- Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome ORPHA:228012
- Idiopathic ventricular fibrillation, non Brugada type ORPHA:228140
- Sinoatrial node dysfunction and deafness ORPHA:324321
- X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome ORPHA:324410
- Chronic atrial and intestinal dysrhythmia syndrome ORPHA:435988
- Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease ORPHA:436242
- Andersen-Tawil syndrome ORPHA:37553
- Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome ORPHA:480864
- GNB5-related intellectual disability-cardiac arrhythmia syndrome ORPHA:542306
- BVES-related limb-girdle muscular dystrophy ORPHA:476084
- Rare syndrome with cardiac malformations ORPHA:156532
- Transketolase deficiency ORPHA:488618
- Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome ORPHA:467176
- Congenital vertebral-cardiac-renal anomalies syndrome ORPHA:521438
- CHARGE syndrome ORPHA:138
- 22q11.2 deletion syndrome ORPHA:567
- Williams syndrome ORPHA:904
- Alagille syndrome ORPHA:52
- Alagille syndrome due to 20p12 microdeletion ORPHA:261600
- Alagille syndrome due to a JAG1 point mutation ORPHA:261619
- Alagille syndrome due to a NOTCH2 point mutation ORPHA:261629
- Ellis Van Creveld syndrome ORPHA:289
- Holt-Oram syndrome ORPHA:392
- Atrioventricular defect-blepharophimosis-radial and anal defect syndrome ORPHA:1352
- Microcephaly-cardiac defect-lung malsegmentation syndrome ORPHA:2516
- TARP syndrome ORPHA:2886
- Atrial septal defect-atrioventricular conduction defects syndrome ORPHA:1479
- Thomas syndrome ORPHA:3316
- PHACE syndrome ORPHA:42775
- Bosley-Salih-Alorainy syndrome ORPHA:69737
- Brain malformation-congenital heart disease-postaxial polydactyly syndrome ORPHA:75389
- Cardiac anomalies-heterotaxy syndrome ORPHA:137628
- Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type ORPHA:217026
- Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome ORPHA:228190
- Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome ORPHA:228410
- 6q25.1 microdeletion syndrome ORPHA:664404
- Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation ORPHA:664401
- Cardiac-valvular Ehlers-Danlos syndrome ORPHA:230851
- Familial retinal arterial macroaneurysm ORPHA:284247
- Congenital disorder of glycosylation with cardiac malformation as a major feature ORPHA:371183
- Peters plus syndrome ORPHA:709
- Musculocontractural Ehlers-Danlos syndrome ORPHA:2953
- CHIME syndrome ORPHA:3474
- MGAT2-CDG ORPHA:79329
- COG7-CDG ORPHA:79333
- Larsen-like syndrome, B3GAT3 type ORPHA:284139
- Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome ORPHA:444077
- White forelock with malformations ORPHA:2475
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome ORPHA:453499
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion ORPHA:352665
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation ORPHA:453504
- Subaortic stenosis-short stature syndrome ORPHA:3191
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency ORPHA:369891
- Noonan syndrome and Noonan-related syndrome ORPHA:98733
- Noonan syndrome ORPHA:648
- Costello syndrome ORPHA:3071
- Noonan syndrome with multiple lentigines ORPHA:500
- Cardiofaciocutaneous syndrome ORPHA:1340
- Noonan syndrome-like disorder with loose anagen hair ORPHA:2701
- Noonan syndrome-like disorder with juvenile myelomonocytic leukemia ORPHA:363972
- Neurofibromatosis-Noonan syndrome ORPHA:638
- KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome ORPHA:457193
- TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome ORPHA:562569
- Down syndrome ORPHA:870
- Microcephaly-seizures-intellectual disability-heart disease syndrome ORPHA:2519
- Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome ORPHA:496693
- Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome ORPHA:508476
- 8q24.3 microdeletion syndrome ORPHA:508488
- Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome ORPHA:508498
- Heart defects-limb shortening syndrome ORPHA:1354
- Lethal brain and heart developmental defects ORPHA:580933
- Spondylometaphyseal dysplasia-corneal dystrophy syndrome ORPHA:589435
- TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome ORPHA:592570
- SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome ORPHA:597743
- Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome ORPHA:664438
- Neurooculocardiogenitourinary syndrome ORPHA:684305
- 2q13 microdeletion syndrome ORPHA:684742
- Turnpenny-Fry syndrome ORPHA:688642
- Structural heart defects-renal anomalies syndrome ORPHA:689822
- CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome ORPHA:646278
- Familial dilated cardiomyopathy ORPHA:217607
- HEC syndrome ORPHA:2119
- Glycogen storage disease due to glycogen branching enzyme deficiency ORPHA:367
- Adult polyglucosan body disease ORPHA:206583
- Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form ORPHA:308621
- Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form ORPHA:308638
- Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form ORPHA:308655
- Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form ORPHA:308670
- Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form ORPHA:308684
- Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form ORPHA:308698
- Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form ORPHA:308712
- Familial isolated dilated cardiomyopathy ORPHA:154
- Neuromuscular disease with dilated cardiomyopathy ORPHA:217610
- Duchenne and Becker muscular dystrophy ORPHA:262
- Becker muscular dystrophy ORPHA:98895
- Duchenne muscular dystrophy ORPHA:98896
- Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers ORPHA:206546
- Emery-Dreifuss muscular dystrophy ORPHA:261
- Autosomal dominant Emery-Dreifuss muscular dystrophy ORPHA:98853
- Autosomal recessive Emery-Dreifuss muscular dystrophy ORPHA:98855
- X-linked Emery-Dreifuss muscular dystrophy ORPHA:98863
- Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 ORPHA:62
- Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 ORPHA:119
- Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 ORPHA:353
- Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 ORPHA:219
- Desminopathy ORPHA:98909
- Fukutin-related limb-girdle muscular dystrophy R13 ORPHA:206554
- Early-onset myopathy with fatal cardiomyopathy ORPHA:289377
- Polyglucosan body myopathy type 1 ORPHA:397937
- Mitochondrial disease with dilated cardiomyopathy ORPHA:217613
- Kearns-Sayre syndrome ORPHA:480
- MELAS ORPHA:550
- MERRF ORPHA:551
- Barth syndrome ORPHA:111
- Leber plus disease ORPHA:99718
- Histiocytoid cardiomyopathy ORPHA:137675
- Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy ORPHA:217616
- Syndrome associated with dilated cardiomyopathy ORPHA:217619
- Alström syndrome ORPHA:64
- Cardiomyopathy-cataract-hip spine disease syndrome ORPHA:1345
- Vici syndrome ORPHA:1493
- 1p36 deletion syndrome ORPHA:1606
- Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome ORPHA:2229
- Microcephaly-cardiomyopathy syndrome ORPHA:2515
- McLeod neuroacanthocytosis syndrome ORPHA:59306
- Carvajal syndrome ORPHA:65282
- Dilated cardiomyopathy with ataxia ORPHA:66634
- Kidney tubulopathy-dilated cardiomyopathy syndrome ORPHA:73224
- Isobutyryl-CoA dehydrogenase deficiency ORPHA:79159
- Heart-hand syndrome, Slovenian type ORPHA:168796
- Sensorineural deafness with dilated cardiomyopathy ORPHA:217622
- Erythrokeratodermia-cardiomyopathy syndrome ORPHA:476096
- Nathalie syndrome ORPHA:2663
- Familial dilated cardiomyopathy with conduction defect due to LMNA mutation ORPHA:300751
- Congenital disorder of glycosylation with dilated cardiomyopathy ORPHA:371176
- DK1-CDG ORPHA:91131
- Fukutin-related limb-girdle muscular dystrophy R13 ORPHA:206554
- DPM3-CDG ORPHA:263494
- PGM1-CDG ORPHA:319646
- Danon disease ORPHA:34587
- Familial restrictive cardiomyopathy ORPHA:217635
- HEC syndrome ORPHA:2119
- Atrial standstill ORPHA:1344
- Pseudoxanthoma elasticum ORPHA:758
- Familial isolated restrictive cardiomyopathy ORPHA:75249
- Hereditary ATTR amyloidosis ORPHA:271861
- Desminopathy ORPHA:98909
- Lysosomal disease with restrictive cardiomyopathy ORPHA:217638
- Glycogen storage disease due to acid maltase deficiency ORPHA:365
- Glycogen storage disease due to acid maltase deficiency, infantile onset ORPHA:308552
- Glycogen storage disease due to acid maltase deficiency, late-onset ORPHA:420429
- Fabry disease ORPHA:324
- Gaucher disease type 1 ORPHA:77259
- Hurler syndrome ORPHA:93473
- LMNA-related cardiocutaneous progeria syndrome ORPHA:363618
- Rare genetic renal disease ORPHA:98056
- Genetic cystic renal disease ORPHA:93587
- Cranioectodermal dysplasia ORPHA:1515
- Autosomal recessive polycystic kidney disease ORPHA:731
- Von Hippel-Lindau disease ORPHA:892
- Meckel syndrome ORPHA:564
- Tuberous sclerosis complex ORPHA:805
- Hepatic fibrosis-renal cysts-intellectual disability syndrome ORPHA:2031
- Adult familial nephronophthisis-spastic quadriparesia syndrome ORPHA:2666
- Saldino-Mainzer syndrome ORPHA:140969
- Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome ORPHA:79118
- Renal-hepatic-pancreatic dysplasia ORPHA:294415
- Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis ORPHA:88924
- Joubert syndrome with renal defect ORPHA:220497
- Karyomegalic interstitial nephritis ORPHA:401996
- Ventriculomegaly-cystic kidney disease ORPHA:443988
- Joubert syndrome with oculorenal defect ORPHA:2318
- RHYNS syndrome ORPHA:140976
- Senior-Loken syndrome ORPHA:3156
- Senior-Boichis syndrome ORPHA:84081
- Ellis Van Creveld syndrome ORPHA:289
- Autosomal dominant polycystic kidney disease ORPHA:730
- Autosomal dominant tubulointerstitial kidney disease ORPHA:34149
- MUC1-related autosomal dominant tubulointerstitial kidney disease ORPHA:88949
- UMOD-related autosomal dominant tubulointerstitial kidney disease ORPHA:88950
- HNF1B-related autosomal dominant tubulointerstitial kidney disease ORPHA:93111
- REN-related autosomal dominant tubulointerstitial kidney disease ORPHA:217330
- Nephronophthisis ORPHA:655
- Late-onset nephronophthisis ORPHA:93589
- Infantile nephronophthisis ORPHA:93591
- Juvenile nephronophthisis ORPHA:93592
- Bardet-Biedl syndrome ORPHA:110
- Nephropathy secondary to a storage or other metabolic disease ORPHA:93593
- Fabry disease ORPHA:324
- Wilson disease ORPHA:905
- Alpha-1-antitrypsin deficiency ORPHA:60
- Zellweger syndrome ORPHA:912
- Galactosemia ORPHA:352
- Galactokinase deficiency ORPHA:79237
- Galactose epimerase deficiency ORPHA:79238
- Erythrocyte galactose epimerase deficiency ORPHA:308473
- Generalized galactose epimerase deficiency ORPHA:308487
- Classic galactosemia ORPHA:79239
- Galactose mutarotase deficiency ORPHA:570422
- Hartnup disease ORPHA:2116
- Hereditary fructose intolerance ORPHA:469
- Glycogen storage disease due to glucose-6-phosphatase deficiency ORPHA:364
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia ORPHA:79258
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib ORPHA:79259
- Porphyria ORPHA:738
- Erythropoietic porphyria ORPHA:659681
- Congenital erythropoietic porphyria ORPHA:79277
- Autosomal erythropoietic protoporphyria ORPHA:79278
- X-linked erythropoietic protoporphyria ORPHA:443197
- Erythropoietic uroporphyria associated with myeloid malignancy ORPHA:280379
- Hepatoerythropoietic porphyria ORPHA:95159
- Harderoporphyria ORPHA:659672
- Hepatic porphyria ORPHA:659694
- Hereditary xanthinuria ORPHA:3467
- Adenine phosphoribosyltransferase deficiency ORPHA:976
- LCAT deficiency ORPHA:650
- Vitamin B12-unresponsive methylmalonic acidemia ORPHA:27
- Vitamin B12-unresponsive methylmalonic acidemia type mut- ORPHA:79312
- Vitamin B12-unresponsive methylmalonic acidemia type mut0 ORPHA:289916
- Enamel-renal syndrome ORPHA:1031
- Phosphoribosylpyrophosphate synthetase superactivity ORPHA:3222
- Mild phosphoribosylpyrophosphate synthetase superactivity ORPHA:411536
- Severe phosphoribosylpyrophosphate synthetase superactivity ORPHA:411543
- Vitamin B12-responsive methylmalonic acidemia ORPHA:28
- Vitamin B12-responsive methylmalonic acidemia type cblA ORPHA:79310
- Vitamin B12-responsive methylmalonic acidemia type cblB ORPHA:79311
- Vitamin B12-responsive methylmalonic acidemia, type cblDv2 ORPHA:308442
- Tyrosinemia type 1 ORPHA:882
- Fanconi-Bickel syndrome ORPHA:2088
- Primary hyperoxaluria ORPHA:416
- Primary hyperoxaluria type 1 ORPHA:93598
- Primary hyperoxaluria type 2 ORPHA:93599
- Primary hyperoxaluria type 3 ORPHA:93600
- Imerslund-Gräsbeck syndrome ORPHA:35858
- Familial renal glucosuria ORPHA:69076
- Sialidosis type 2 ORPHA:87876
- Hypoxanthine-guanine phosphoribosyltransferase deficiency ORPHA:206428
- Lesch-Nyhan syndrome ORPHA:510
- Hypoxanthine guanine phosphoribosyltransferase partial deficiency ORPHA:79233
- Juvenile cataract-microcornea-renal glucosuria syndrome ORPHA:247794
- Autosomal recessive infantile hypercalcemia ORPHA:300547
- Congenital disorder of glycosylation with nephropathy as a major feature ORPHA:371207
- Infantile nephropathic cystinosis ORPHA:411629
- Juvenile nephropathic cystinosis ORPHA:411634
- Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation ORPHA:324525
- Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation ORPHA:620371
- Hematological disorder with renal involvement ORPHA:93614
- Alpha-thalassemia ORPHA:846
- Beta-thalassemia ORPHA:848
- Beta-thalassemia major ORPHA:231214
- Beta-thalassemia intermedia ORPHA:231222
- Dominant beta-thalassemia ORPHA:231226
- Sickle cell anemia ORPHA:232
- Fanconi anemia ORPHA:84
- Rare genetic cause of hypertension ORPHA:156629
- Neurofibromatosis type 1 ORPHA:636
- 17q11 microdeletion syndrome ORPHA:97685
- Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion ORPHA:363700
- Liddle syndrome ORPHA:526
- Brachydactyly-arterial hypertension syndrome ORPHA:1276
- Familial hyperthyroidism due to mutations in TSH receptor ORPHA:424
- Pseudohypoaldosteronism type 2 ORPHA:757
- Pseudohypoaldosteronism type 2A ORPHA:88938
- Pseudohypoaldosteronism type 2B ORPHA:88939
- Pseudohypoaldosteronism type 2C ORPHA:88940
- Pseudohypoaldosteronism type 2D ORPHA:300525
- Pseudohypoaldosteronism type 2E ORPHA:300530
- Pseudoxanthoma elasticum ORPHA:758
- Apparent mineralocorticoid excess ORPHA:320
- Autosomal dominant progressive nephropathy with hypertension ORPHA:88659
- Hypertension due to gain-of-function mutations in the mineralocorticoid receptor ORPHA:88660
- Williams syndrome ORPHA:904
- Familial hyperaldosteronism ORPHA:235936
- Genetic renal or urinary tract malformation ORPHA:183539
- Syndromic renal or urinary tract malformation ORPHA:93547
- CHARGE syndrome ORPHA:138
- Rubinstein-Taybi syndrome ORPHA:783
- Rubinstein-Taybi syndrome due to CREBBP mutations ORPHA:353277
- Rubinstein-Taybi syndrome due to 16p13.3 microdeletion ORPHA:353281
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ORPHA:353284
- Noonan syndrome ORPHA:648
- WAGR syndrome ORPHA:893
- BOR syndrome ORPHA:107
- Cat-eye syndrome ORPHA:195
- Alagille syndrome ORPHA:52
- Alagille syndrome due to 20p12 microdeletion ORPHA:261600
- Alagille syndrome due to a JAG1 point mutation ORPHA:261619
- Alagille syndrome due to a NOTCH2 point mutation ORPHA:261629
- Beckwith-Wiedemann syndrome ORPHA:116
- Beckwith-Wiedemann syndrome due to 11p15 microduplication ORPHA:96076
- Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 ORPHA:96193
- Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 ORPHA:231117
- Beckwith-Wiedemann syndrome due to CDKN1C mutation ORPHA:231120
- Beckwith-Wiedemann syndrome due to 11p15 microdeletion ORPHA:231127
- Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion ORPHA:231130
- Beckwith-Wiedemann syndrome due to NSD1 mutation ORPHA:238613
- Meckel syndrome ORPHA:564
- Ellis Van Creveld syndrome ORPHA:289
- Simpson-Golabi-Behmel syndrome ORPHA:373
- Caudal regression syndrome ORPHA:3027
- Fraser syndrome ORPHA:2052
- Hajdu-Cheney syndrome ORPHA:955
- Acrorenal syndrome ORPHA:971
- Aniridia-renal agenesis-psychomotor retardation syndrome ORPHA:1064
- AREDYLD syndrome ORPHA:1133
- Axial mesodermal dysplasia spectrum ORPHA:1834
- EEC syndrome ORPHA:1896
- Faciocardiorenal syndrome ORPHA:1973
- Hydrocephalus-blue sclerae-nephropathy syndrome ORPHA:2186
- Hypoparathyroidism-sensorineural deafness-renal disease syndrome ORPHA:2237
- Megacystis-microcolon-intestinal hypoperistalsis syndrome ORPHA:2241
- Fibulo-ulnar hypoplasia-renal anomalies syndrome ORPHA:2256
- Pallister-Hall syndrome ORPHA:672
- Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome ORPHA:2278
- Nephrosis-deafness-urinary tract-digital malformations syndrome ORPHA:2669
- Renal coloboma syndrome ORPHA:1475
- Neurofaciodigitorenal syndrome ORPHA:2673
- Arthrogryposis-renal dysfunction-cholestasis syndrome ORPHA:2697
- Urofacial syndrome ORPHA:2704
- Orofaciodigital syndrome type 1 ORPHA:2750
- Multicentric carpo-tarsal osteolysis with or without nephropathy ORPHA:2774
- Spastic paraplegia-nephritis-deafness syndrome ORPHA:2820
- NPHP3-related Meckel-like syndrome ORPHA:3032
- Mayer-Rokitansky-Küster-Hauser syndrome ORPHA:3109
- Mayer-Rokitansky-Küster-Hauser syndrome type 2 ORPHA:2578
- Mayer-Rokitansky-Küster-Hauser syndrome type 1 ORPHA:247775
- Schinzel-Giedion syndrome ORPHA:798
- Holoprosencephaly-radial heart renal anomalies syndrome ORPHA:3186
- Thomas syndrome ORPHA:3316
- Thymic-renal-anal-lung dysplasia ORPHA:3326
- Thyrocerebrorenal syndrome ORPHA:3327
- Ulbright-Hodes syndrome ORPHA:3404
- Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome ORPHA:1192
- Smith-Lemli-Opitz syndrome ORPHA:818
- 22q11.2 deletion syndrome ORPHA:567
- HNF1B-related autosomal dominant tubulointerstitial kidney disease ORPHA:93111
- BNAR syndrome ORPHA:217266
- Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome ORPHA:444069
- Trisomy 13 syndrome ORPHA:3378
- Trisomy 18 syndrome ORPHA:3380
- VACTERL/VATER association ORPHA:887
- Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome ORPHA:439897
- Turner syndrome ORPHA:881
- Monosomy X syndrome ORPHA:99226
- Mosaic monosomy X syndrome ORPHA:99228
- Turner syndrome due to structural X chromosome anomalies ORPHA:99413
- Radio-renal syndrome ORPHA:3015
- Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome ORPHA:500135
- Caudal duplication ORPHA:1756
- Tall stature-intellectual disability-renal anomalies syndrome ORPHA:500095
- Congenital vertebral-cardiac-renal anomalies syndrome ORPHA:521438
- 8q24.3 microdeletion syndrome ORPHA:508488
- Menke-Hennekam syndrome ORPHA:592574
- SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome ORPHA:597743
- PBX1-related congenital anomalies of kidney-urinary tract syndrome ORPHA:656130
- Structural heart defects-renal anomalies syndrome ORPHA:689822
- Genetic non-syndromic renal or urinary tract malformation ORPHA:357506
- Multicystic dysplastic kidney ORPHA:1851
- Unilateral multicystic dysplastic kidney ORPHA:97363
- Bilateral multicystic dysplastic kidney ORPHA:97364
- Exstrophy-epispadias complex ORPHA:322
- Medullary sponge kidney ORPHA:1309
- Duplication of urethra ORPHA:237
- Congenital primary megaureter ORPHA:617
- Primary megaureter, adult-onset form ORPHA:238642
- Congenital primary megaureter, obstructed form ORPHA:238646
- Congenital primary megaureter, refluxing form ORPHA:238650
- Congenital primary megaureter, nonrefluxing and unobstructed form ORPHA:238654
- Congenital primary megaureter, refluxing and obstructed form ORPHA:544578
- Renal hypoplasia ORPHA:93101
- Renal dysplasia ORPHA:93108
- Renal tubular dysgenesis of genetic origin ORPHA:97369
- Renal agenesis ORPHA:411709
- Fetal lower urinary tract obstruction ORPHA:435365
- Genetic glomerular disease ORPHA:183586
- Genetic systemic disease with glomerulopathy as a major feature ORPHA:567556
- Muckle-Wells syndrome ORPHA:575
- Familial Mediterranean fever ORPHA:342
- Hereditary amyloidosis with primary renal involvement ORPHA:85450
- AApoAI amyloidosis ORPHA:93560
- ALys amyloidosis ORPHA:93561
- AFib amyloidosis ORPHA:93562
- AApoAII amyloidosis ORPHA:238269
- Autoimmune interstitial lung disease-arthritis syndrome ORPHA:444092
- Hypocomplementemic urticarial vasculitis ORPHA:36412
- Disorder with multisystemic involvement and glomerulopathy ORPHA:567562
- Schimke immuno-osseous dysplasia ORPHA:1830
- Familial steroid-resistant nephrotic syndrome with adrenal insufficiency ORPHA:506334
- Action myoclonus-renal failure syndrome ORPHA:163696
- Frasier syndrome ORPHA:347
- Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome ORPHA:69735
- Nail-patella-like renal disease ORPHA:2613
- Denys-Drash syndrome ORPHA:220
- Nail-patella syndrome ORPHA:2614
- Severe oculo-renal-cerebellar syndrome ORPHA:2715
- Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization ORPHA:69063
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type E ORPHA:93114
- MYH9-related syndromic thrombocytopenia ORPHA:182050
- Familial steroid-resistant nephrotic syndrome with sensorineural deafness ORPHA:280406
- Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome ORPHA:300333
- Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome ORPHA:306504
- Galloway-Mowat syndrome ORPHA:2065
- Pierson syndrome ORPHA:2670
- Fibronectin glomerulopathy ORPHA:84090
- Lipoprotein glomerulopathy ORPHA:329481
- Primary membranoproliferative glomerulonephritis ORPHA:54370
- Immunoglobulin-mediated membranoproliferative glomerulonephritis ORPHA:329903
- C3 glomerulopathy ORPHA:329918
- Collagen-related glomerular basement membrane disease ORPHA:544590
- Alport syndrome ORPHA:63
- X-linked Alport syndrome ORPHA:88917
- Autosomal dominant Alport syndrome ORPHA:88918
- Autosomal recessive Alport syndrome ORPHA:88919
- X-linked Alport syndrome-diffuse leiomyomatosis ORPHA:1018
- Digenic Alport syndrome ORPHA:653722
- HANAC syndrome ORPHA:73229
- Genetic nephrotic syndrome ORPHA:564127
- Genetic thrombotic microangiopathy ORPHA:183589
- Congenital thrombotic thrombocytopenic purpura ORPHA:93583
- Genetic hemolytic uremic syndrome ORPHA:576742
- Atypical hemolytic uremic syndrome ORPHA:2134
- Atypical hemolytic uremic syndrome with complement gene abnormality ORPHA:544472
- Atypical hemolytic uremic syndrome with anti-factor H antibodies ORPHA:93581
- Methylmalonic acidemia with homocystinuria, type cblC ORPHA:79282
- Hemolytic uremic syndrome with DGKE deficiency ORPHA:357008
- Genetic renal tubular disease ORPHA:183592
- Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome ORPHA:544628
- Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome ORPHA:528105
- Primary hypomagnesemia with hypercalciuria and nephrocalcinosis ORPHA:306516
- Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement ORPHA:2196
- Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement ORPHA:31043
- Primary hypomagnesemia with secondary hypocalcemia ORPHA:30924
- Oculocerebrorenal syndrome of Lowe ORPHA:534
- Hypophosphatemic rickets ORPHA:437
- Dent disease ORPHA:1652
- Cystinosis ORPHA:213
- Infantile nephropathic cystinosis ORPHA:411629
- Juvenile nephropathic cystinosis ORPHA:411634
- Ocular cystinosis ORPHA:411641
- Dominant hypophosphatemia with nephrolithiasis or osteoporosis ORPHA:244305
- X-linked hypophosphatemia ORPHA:89936
- Autosomal dominant hypophosphatemic rickets ORPHA:89937
- Hereditary hypophosphatemic rickets with hypercalciuria ORPHA:157215
- Autosomal recessive hypophosphatemic rickets ORPHA:289176
- Cystinuria ORPHA:214
- Bartter syndrome ORPHA:112
- Bartter syndrome type 4 ORPHA:89938
- Bartter syndrome type 3 ORPHA:93605
- Bartter syndrome type 5 ORPHA:570371
- Bartter syndrome type 1 ORPHA:620217
- Bartter syndrome type 2 ORPHA:620220
- Gitelman syndrome ORPHA:358
- Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome ORPHA:3145
- Idiopathic hypercalciuria ORPHA:2197
- Arginine vasopressin resistance ORPHA:223
- Primary Fanconi renotubular syndrome ORPHA:3337
- Pseudohypoaldosteronism type 1 ORPHA:756
- Renal pseudohypoaldosteronism type 1 ORPHA:171871
- Generalized pseudohypoaldosteronism type 1 ORPHA:171876
- Autosomal dominant primary hypomagnesemia with hypocalciuria ORPHA:34528
- Nephrogenic syndrome of inappropriate antidiuresis ORPHA:93606
- Hereditary renal hypouricemia ORPHA:94088
- Pseudohypoparathyroidism ORPHA:97593
- Pseudohypoparathyroidism without Albright hereditary osteodystrophy ORPHA:457062
- Pseudohypoparathyroidism with Albright hereditary osteodystrophy ORPHA:457059
- EAST syndrome ORPHA:199343
- Autosomal dominant tubulointerstitial kidney disease ORPHA:34149
- MUC1-related autosomal dominant tubulointerstitial kidney disease ORPHA:88949
- UMOD-related autosomal dominant tubulointerstitial kidney disease ORPHA:88950
- HNF1B-related autosomal dominant tubulointerstitial kidney disease ORPHA:93111
- REN-related autosomal dominant tubulointerstitial kidney disease ORPHA:217330
- Hypotonia-cystinuria type 1 syndrome ORPHA:238517
- Hypotonia-cystinuria syndrome ORPHA:163690
- 2p21 microdeletion syndrome ORPHA:163693
- Atypical hypotonia-cystinuria syndrome ORPHA:238523
- Primary renal tubular acidosis ORPHA:314822
- Osteopetrosis with renal tubular acidosis ORPHA:2785
- Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome ORPHA:3240
- Distal renal tubular acidosis ORPHA:18
- Autosomal dominant distal renal tubular acidosis ORPHA:93608
- Distal renal tubular acidosis with anemia ORPHA:93610
- Autosomal recessive distal renal tubular acidosis ORPHA:402041
- Proximal renal tubular acidosis ORPHA:47159
- Mitochondrial DNA depletion syndrome, hepatocerebrorenal form ORPHA:363534
- Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ORPHA:363694
- Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome ORPHA:505242
- Kidney tubulopathy-dilated cardiomyopathy syndrome ORPHA:73224
- Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation ORPHA:324525
- Isolated autosomal dominant hypomagnesemia, Glaudemans type ORPHA:199326
- Alström syndrome ORPHA:64
- Jeune syndrome ORPHA:474
- Cataract-nephropathy-encephalopathy syndrome ORPHA:1380
- Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome ORPHA:688581
- Primary hypomagnesemia-refractory seizures-intellectual disability syndrome ORPHA:564178
- Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome ORPHA:620363
- EGF-related primary hypomagnesemia with intellectual disability ORPHA:620368
- Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation ORPHA:620371
- FRAXF syndrome ORPHA:100974
- Rare genetic eye disease ORPHA:101435
- Rare genetic disorder of the visual organs ORPHA:522504
- Structural developmental eye defect of genetic origin ORPHA:522536
- Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome ORPHA:659904
- Melnick-Needles syndrome ORPHA:2484
- Microphthalmia-anophthalmia-coloboma ORPHA:98555
- Isolated microphthalmia-anophthalmia-coloboma ORPHA:2542
- Syndromic microphthalmia-anophthalmia-coloboma ORPHA:202948
- COFS syndrome ORPHA:1466
- Ectodermal dysplasia-blindness syndrome ORPHA:1806
- Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome ORPHA:251279
- Microphthalmia with limb anomalies ORPHA:1106
- Microphthalmia-microtia-fetal akinesia syndrome ORPHA:2547
- Microphthalmia, Lenz type ORPHA:568
- Matthew-Wood syndrome ORPHA:2470
- Micro syndrome ORPHA:2510
- Microphthalmia with linear skin defects syndrome ORPHA:2556
- Oculofaciocardiodental syndrome ORPHA:2712
- MMEP syndrome ORPHA:3434
- Anophthalmia/microphthalmia-esophageal atresia syndrome ORPHA:77298
- Microphthalmia-brain atrophy syndrome ORPHA:77299
- Microphthalmia-ankyloblepharon-intellectual disability syndrome ORPHA:85275
- Microphthalmia with brain and digit anomalies ORPHA:139471
- Syndromic microphthalmia type 5 ORPHA:178364
- Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome ORPHA:363741
- Colobomatous microphthalmia-rhizomelic dysplasia syndrome ORPHA:424099
- X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome ORPHA:431140
- Oculocerebrocutaneous syndrome ORPHA:1647
- Oculoauricular syndrome, Schorderet type ORPHA:157962
- Oculogastrointestinal-neurodevelopmental syndrome ORPHA:611201
- Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome ORPHA:689829
- Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome ORPHA:603494
- Macrosomia-microphthalmia-cleft palate syndrome ORPHA:2432
- High myopia-sensorineural deafness syndrome ORPHA:363396
- Colobomatous macrophthalmia-microcornea syndrome ORPHA:468672
- Rare genetic disorder of the anterior segment of the eye ORPHA:522538
- Rare genetic corneal disorder ORPHA:522556
- Congenital cornea plana ORPHA:53691
- Corneodysgenesis ORPHA:98635
- Rare genetic disorder with corneal involvement as a major feature ORPHA:522558
- EEC syndrome ORPHA:1896
- Megalocornea-intellectual disability syndrome ORPHA:2479
- Epidermolysis bullosa simplex with muscular dystrophy ORPHA:257
- Tyrosinemia type 2 ORPHA:28378
- Genetic corneal dystrophy ORPHA:522560
- Genetic superficial corneal dystrophy ORPHA:522562
- Subepithelial mucinous corneal dystrophy ORPHA:98959
- Reis-Bücklers corneal dystrophy ORPHA:98961
- Grayson-Wilbrandt corneal dystrophy ORPHA:293375
- Meesmann corneal dystrophy ORPHA:98954
- Lisch epithelial corneal dystrophy ORPHA:98955
- Epithelial basement membrane dystrophy ORPHA:98956
- Gelatinous drop-like corneal dystrophy ORPHA:98957
- Thiel-Behnke corneal dystrophy ORPHA:98960
- Epithelial recurrent erosion dystrophy ORPHA:293381
- Hereditary benign intraepithelial dyskeratosis ORPHA:352657
- Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome ORPHA:352662
- Stromal corneal dystrophy ORPHA:98626
- Central cloudy dystrophy of François ORPHA:98972
- Granular corneal dystrophy type I ORPHA:98962
- Granular corneal dystrophy type II ORPHA:98963
- Lattice corneal dystrophy type I ORPHA:98964
- Schnyder corneal dystrophy ORPHA:98967
- Macular corneal dystrophy ORPHA:98969
- Fleck corneal dystrophy ORPHA:98970
- Posterior amorphous corneal dystrophy ORPHA:98971
- Congenital stromal corneal dystrophy ORPHA:101068
- Pre-Descemet corneal dystrophy ORPHA:293462
- Posterior corneal dystrophy ORPHA:98627
- Posterior polymorphous corneal dystrophy ORPHA:98973
- Fuchs endothelial corneal dystrophy ORPHA:98974
- Congenital hereditary endothelial dystrophy type II ORPHA:293603
- X-linked endothelial corneal dystrophy ORPHA:293621
- Syndromic corneal dystrophy ORPHA:98628
- Brittle cornea syndrome ORPHA:90354
- Ocular cystinosis ORPHA:411641
- LCAT deficiency ORPHA:650
- Recessive X-linked ichthyosis ORPHA:461
- Corneal dystrophy-perceptive deafness syndrome ORPHA:1490
- X-linked corneal dermoid ORPHA:1661
- Mietens syndrome ORPHA:2557
- Spastic ataxia-corneal dystrophy syndrome ORPHA:2572
- Oculodental syndrome, Rutherfurd type ORPHA:2709
- Ophthalmomandibulomelic dysplasia ORPHA:2741
- De Barsy syndrome ORPHA:2962
- Spinocerebellar degeneration-corneal dystrophy syndrome ORPHA:3177
- Corneodermatoosseous syndrome ORPHA:3194
- Dermochondrocorneal dystrophy ORPHA:79149
- AGel amyloidosis ORPHA:85448
- X-linked reticulate pigmentary disorder ORPHA:85453
- Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome ORPHA:495875
- Spondylometaphyseal dysplasia-corneal dystrophy syndrome ORPHA:589435
- Severe generalized junctional epidermolysis bullosa ORPHA:79404
- Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form ORPHA:79408
- Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form ORPHA:89842
- Syndromic genetic keratoconus ORPHA:522564
- Marfan syndrome ORPHA:558
- Down syndrome ORPHA:870
- GAPO syndrome ORPHA:2067
- EDICT syndrome ORPHA:293936
- Rare genetic inflammatory/autoimmune corneal disorder ORPHA:522566
- Rare genetic disorder of the pupil ORPHA:522568
- Oculocerebrorenal syndrome of Lowe ORPHA:534
- Trisomy 9p syndrome ORPHA:236
- Refsum disease ORPHA:773
- Familial dysautonomia ORPHA:1764
- Stormorken-Sjaastad-Langslet syndrome ORPHA:3204
- Chondrodysplasia-difference of sex development syndrome ORPHA:1422
- Aniridia-ptosis-intellectual disability-familial obesity syndrome ORPHA:1067
- Spastic ataxia with congenital miosis ORPHA:1182
- X-linked corneal dermoid ORPHA:1661
- Osteoporosis-pseudoglioma syndrome ORPHA:2788
- Proteus-like syndrome ORPHA:2969
- Ptosis-strabismus-ectopic pupils syndrome ORPHA:2999
- Hirschsprung disease-ganglioneuroblastoma syndrome ORPHA:2151
- Ectopia lentis-chorioretinal dystrophy-myopia syndrome ORPHA:1884
- Congenital Horner syndrome ORPHA:91413
- SHORT syndrome ORPHA:3163
- Unilateral ocular duplication ORPHA:3374
- Multisystemic smooth muscle dysfunction syndrome ORPHA:404463
- Genetic lens and zonula anomaly ORPHA:183607
- Lens shape anomaly ORPHA:98655
- CHARGE syndrome ORPHA:138
- Rubinstein-Taybi syndrome ORPHA:783
- Rubinstein-Taybi syndrome due to CREBBP mutations ORPHA:353277
- Rubinstein-Taybi syndrome due to 16p13.3 microdeletion ORPHA:353281
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ORPHA:353284
- Meckel syndrome ORPHA:564
- Microphthalmia, Lenz type ORPHA:568
- Alport syndrome ORPHA:63
- X-linked Alport syndrome ORPHA:88917
- Autosomal dominant Alport syndrome ORPHA:88918
- Autosomal recessive Alport syndrome ORPHA:88919
- X-linked Alport syndrome-diffuse leiomyomatosis ORPHA:1018
- Digenic Alport syndrome ORPHA:653722
- Focal dermal hypoplasia ORPHA:2092
- Congenital primary aphakia ORPHA:83461
- Rare genetic disorder with lens opacification ORPHA:522546
- Early onset non-syndromic cataract ORPHA:91492
- Early-onset partial cataract ORPHA:98992
- Pulverulent cataract ORPHA:98984
- Early-onset anterior polar cataract ORPHA:98988
- Cerulean cataract ORPHA:98989
- Coralliform cataract ORPHA:98990
- Early-onset posterior polar cataract ORPHA:98993
- Early-onset zonular cataract ORPHA:98995
- Early-onset sutural cataract ORPHA:98985
- Early-onset nuclear cataract ORPHA:98991
- Early-onset lamellar cataract ORPHA:441452
- Early-onset posterior subcapsular cataract ORPHA:441447
- Total early-onset cataract ORPHA:98994
- Syndromic genetic cataract ORPHA:522548
- Hidrotic ectodermal dysplasia ORPHA:189
- Adams-Oliver syndrome ORPHA:974
- Alström syndrome ORPHA:64
- Aniridia-intellectual disability syndrome ORPHA:1068
- Autosomal recessive cerebelloparenchymal disorder type 3 ORPHA:1170
- Behr syndrome ORPHA:1239
- Tricho-retino-dento-digital syndrome ORPHA:1264
- Cardiomyopathy-cataract-hip spine disease syndrome ORPHA:1345
- Autosomal recessive palmoplantar keratoderma and congenital alopecia ORPHA:1366
- Cataract-ataxia-deafness syndrome ORPHA:1368
- Infantile spasms-broad thumbs syndrome ORPHA:3173
- Alpha-N-acetylgalactosaminidase deficiency ORPHA:3137
- Alpha-N-acetylgalactosaminidase deficiency type 1 ORPHA:79279
- Alpha-N-acetylgalactosaminidase deficiency type 2 ORPHA:79280
- Alpha-N-acetylgalactosaminidase deficiency type 3 ORPHA:79281
- Werner syndrome ORPHA:902
- Cyprus facial-neuromusculoskeletal syndrome ORPHA:2674
- Oculodentodigital dysplasia ORPHA:2710
- Oculofaciocardiodental syndrome ORPHA:2712
- Oculo-palato-cerebral syndrome ORPHA:2714
- Oculocerebral hypopigmentation syndrome, Cross type ORPHA:2719
- Osteoporosis-pseudoglioma syndrome ORPHA:2788
- Proteus-like syndrome ORPHA:2969
- Intellectual disability-cataracts-calcified pinnae-myopathy syndrome ORPHA:3042
- Deafness-onychodystrophy syndrome ORPHA:3231
- Cochleosaccular degeneration-cataract syndrome ORPHA:3233
- Tetraamelia-multiple malformations syndrome ORPHA:3301
- Microcephaly-brachydactyly-kyphoscoliosis syndrome ORPHA:3433
- Autoimmune polyendocrinopathy type 1 ORPHA:3453
- Siegler-Brewer-Carey syndrome ORPHA:3167
- Ectopia lentis-chorioretinal dystrophy-myopia syndrome ORPHA:1884
- Aymé-Gripp syndrome ORPHA:1272
- Cataract-deafness-hypogonadism syndrome ORPHA:1383
- Leber congenital amaurosis ORPHA:65
- Xeroderma pigmentosum ORPHA:910
- Erythrokeratodermia variabilis ORPHA:317
- Congenital cataract-anterior segment dysgenesis syndrome ORPHA:162
- Lymphedema-distichiasis syndrome ORPHA:33001
- Trichothiodystrophy ORPHA:33364
- Epidermal nevus syndrome ORPHA:35125
- Congenital cataracts-facial dysmorphism-neuropathy syndrome ORPHA:48431
- Craniolenticulosutural dysplasia ORPHA:50814
- Blomstrand lethal chondrodysplasia ORPHA:50945
- Developmental malformations-deafness-dystonia syndrome ORPHA:79107
- Hypomyelination-congenital cataract syndrome ORPHA:85163
- Microcephalic osteodysplastic dysplasia, Saul-Wilson type ORPHA:85172
- Spondylo-ocular syndrome ORPHA:85194
- X-linked intellectual disability, Armfield type ORPHA:85276
- Deafness-intellectual disability syndrome, Martin-Probst type ORPHA:85321
- Blau syndrome ORPHA:90340
- Persistent hyperplastic primary vitreous ORPHA:91495
- Cloverleaf skull-multiple congenital anomalies syndrome ORPHA:93267
- Chromosomal anomaly with cataract ORPHA:98642
- Turner syndrome ORPHA:881
- Monosomy X syndrome ORPHA:99226
- Mosaic monosomy X syndrome ORPHA:99228
- Turner syndrome due to structural X chromosome anomalies ORPHA:99413
- Monosomy 18p syndrome ORPHA:1598
- 21q deletion syndrome ORPHA:574
- Distal duplication 2p syndrome ORPHA:96070
- Down syndrome ORPHA:870
- Monosomy 5p syndrome ORPHA:281
- Trisomy 13 syndrome ORPHA:3378
- Trisomy 9p syndrome ORPHA:236
- Non-distal duplication 10q syndrome ORPHA:1695
- Mosaic variegated aneuploidy syndrome ORPHA:1052
- Tetrasomy 5p syndrome ORPHA:3309
- 3q26 microduplication syndrome ORPHA:96095
- Monosomy 13q34 syndrome ORPHA:96168
- Wolf-Hirschhorn syndrome ORPHA:280
- Monosomy 18q syndrome ORPHA:1600
- Trisomy 18 syndrome ORPHA:3380
- Monosomy 13q14 syndrome ORPHA:1587
- Distal deletion 13q syndrome ORPHA:1590
- Trisomy 5p syndrome ORPHA:1742
- Triploidy syndrome ORPHA:3376
- Distal duplication 10q syndrome ORPHA:96102
- 15q overgrowth syndrome ORPHA:314585
- Metabolic disease with cataract ORPHA:98644
- Alpha-mannosidosis ORPHA:61
- Fabry disease ORPHA:324
- Galactosemia ORPHA:352
- Galactokinase deficiency ORPHA:79237
- Galactose epimerase deficiency ORPHA:79238
- Erythrocyte galactose epimerase deficiency ORPHA:308473
- Generalized galactose epimerase deficiency ORPHA:308487
- Classic galactosemia ORPHA:79239
- Galactose mutarotase deficiency ORPHA:570422
- Refsum disease ORPHA:773
- De Barsy syndrome ORPHA:2962
- 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome ORPHA:445038
- Spastic paraparesis-cataracts-speech delay syndrome ORPHA:615938
- Abetalipoproteinemia ORPHA:14
- Gyrate atrophy of choroid and retina ORPHA:414
- Congenital muscular dystrophy, Fukuyama type ORPHA:272
- Fatty acyl-CoA reductase 1 deficiency ORPHA:438178
- Homocystinuria due to cystathionine beta-synthase deficiency ORPHA:394
- Mevalonic aciduria ORPHA:29
- Cerebrotendinous xanthomatosis ORPHA:909
- Peters plus syndrome ORPHA:709
- 3-methylglutaconic aciduria type 4 ORPHA:67048
- Neutral lipid storage disease with ichthyosis ORPHA:98907
- Multiple sulfatase deficiency ORPHA:585
- Neonatal adrenoleukodystrophy ORPHA:44
- Mucopolysaccharidosis type 3 ORPHA:581
- Sanfilippo syndrome type A ORPHA:79269
- Sanfilippo syndrome type B ORPHA:79270
- Sanfilippo syndrome type C ORPHA:79271
- Sanfilippo syndrome type D ORPHA:79272
- Muscle-eye-brain disease ORPHA:588
- Lathosterolosis ORPHA:46059
- Alpha-N-acetylgalactosaminidase deficiency type 3 ORPHA:79281
- ALG8-CDG ORPHA:79325
- ALG2-CDG ORPHA:79326
- Renal disease with cataract ORPHA:98646
- Oculocerebral hypopigmentation syndrome, Preus type ORPHA:2720
- X-linked retinoschisis ORPHA:792
- Full NF2-related schwannomatosis ORPHA:637
- Norrie disease ORPHA:649
- Schwartz-Jampel syndrome ORPHA:800
- WAGR syndrome ORPHA:893
- Meckel syndrome ORPHA:564
- Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome ORPHA:2772
- Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome ORPHA:3085
- Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome ORPHA:1369
- Foveal hypoplasia-presenile cataract syndrome ORPHA:2253
- Marshall syndrome ORPHA:560
- Proximal myotonic myopathy ORPHA:606
- Sotos syndrome ORPHA:821
- Oculoskeletodental syndrome ORPHA:557003
- Congenital muscular dystrophy-cataract-intellectual disability syndrome ORPHA:662184
- Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome ORPHA:478049
- Microcephaly-congenital cataract-psoriasiform dermatitis syndrome ORPHA:488168
- Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract ORPHA:500545
- Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome ORPHA:521432
- Musculoskeletal disease with cataract ORPHA:98648
- Steinert myotonic dystrophy ORPHA:273
- Childhood-onset Steinert myotonic dystrophy ORPHA:589824
- Juvenile-onset Steinert myotonic dystrophy ORPHA:589827
- Adult-onset Steinert myotonic dystrophy ORPHA:589830
- Late-onset Steinert myotonic dystrophy ORPHA:589833
- Congenital-onset Steinert myotonic dystrophy ORPHA:589821
- Roberts syndrome ORPHA:3103
- Pseudohypoparathyroidism with Albright hereditary osteodystrophy ORPHA:457059
- Pseudohypoparathyroidism type 1A ORPHA:79443
- Pseudohypoparathyroidism type 1C ORPHA:79444
- Pseudopseudohypoparathyroidism ORPHA:79445
- Rhizomelic chondrodysplasia punctata ORPHA:177
- Rhizomelic chondrodysplasia punctata type 3 ORPHA:309803
- Rhizomelic chondrodysplasia punctata type 1 ORPHA:309789
- Rhizomelic chondrodysplasia punctata type 2 ORPHA:309796
- Rhizomelic chondrodysplasia punctata type 5 ORPHA:468717
- X-linked dominant chondrodysplasia punctata ORPHA:35173
- Stickler syndrome type 1 ORPHA:90653
- Stickler syndrome type 2 ORPHA:90654
- Dentocutaneous disease with cataract ORPHA:98649
- Craniofacial anomaly with cataract ORPHA:98650
- Crouzon syndrome ORPHA:207
- Zellweger syndrome ORPHA:912
- Hallermann-Streiff syndrome ORPHA:2108
- Smith-Lemli-Opitz syndrome ORPHA:818
- Hallermann-Streiff-like syndrome ORPHA:2109
- Apert syndrome ORPHA:87
- Microphthalmia with brain and digit anomalies ORPHA:139471
- X-linked intellectual disability, Najm type ORPHA:163937
- Juvenile cataract-microcornea-renal glucosuria syndrome ORPHA:247794
- Isolated aniridia ORPHA:250923
- MRCS syndrome ORPHA:263347
- Congenital cataract microcornea with corneal opacity ORPHA:289499
- Congenital cataract-hearing loss-severe developmental delay syndrome ORPHA:300313
- Cataract-congenital heart disease-neural tube defect syndrome ORPHA:314993
- Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome ORPHA:330054
- Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome ORPHA:436174
- Autosomal dominant spastic paraplegia type 9A ORPHA:447753
- Basel-Vanagaite-Smirin-Yosef syndrome ORPHA:464738
- Cataract-aberrant oral frenula-growth delay syndrome ORPHA:1373
- Hereditary hyperferritinemia-cataract syndrome ORPHA:163
- Cataract-hypertrichosis-intellectual disability syndrome ORPHA:1375
- Cataract-microcornea syndrome ORPHA:1377
- Cataract-nephropathy-encephalopathy syndrome ORPHA:1380
- Cataract-intellectual disability-anal atresia-urinary defects syndrome ORPHA:1381
- Cataract-intellectual disability-hypogonadism syndrome ORPHA:1387
- Hydrocephaly-cerebellar agenesis syndrome ORPHA:1397
- CODAS syndrome ORPHA:1458
- Vici syndrome ORPHA:1493
- Dahlberg-Borer-Newcomer syndrome ORPHA:1563
- Hereditary mucoepithelial dysplasia ORPHA:1839
- Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome ORPHA:1875
- Scalp-ear-nipple syndrome ORPHA:2036
- Flynn-Aird syndrome ORPHA:2047
- Harrod syndrome ORPHA:2115
- Familial isolated hypoparathyroidism ORPHA:2238
- Familial isolated hypoparathyroidism due to agenesis of parathyroid gland ORPHA:2239
- Autosomal dominant hypocalcemia ORPHA:428
- Familial isolated hypoparathyroidism due to impaired PTH secretion ORPHA:189466
- Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome ORPHA:2250
- Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome ORPHA:2278
- Absence deformity of leg-cataract syndrome ORPHA:2310
- Hypergonadotropic hypogonadism-cataract syndrome ORPHA:2410
- Mandibuloacral dysplasia ORPHA:2457
- Mandibuloacral dysplasia with type A lipodystrophy ORPHA:90153
- Mandibuloacral dysplasia with type B lipodystrophy ORPHA:90154
- Marinesco-Sjögren syndrome ORPHA:559
- Upper limb defect-eye and ear abnormalities syndrome ORPHA:2489
- Micro syndrome ORPHA:2510
- Microcephaly-microcornea syndrome, Seemanova type ORPHA:2528
- Microspherophakia-metaphyseal dysplasia syndrome ORPHA:2551
- Spastic ataxia-corneal dystrophy syndrome ORPHA:2572
- Microcephalic primordial dwarfism, Toriello type ORPHA:2643
- Nathalie syndrome ORPHA:2663
- Lens size anomaly of genetic origin ORPHA:522550
- Syndromic microspherophakia ORPHA:519294
- Microspherophakia-metaphyseal dysplasia syndrome ORPHA:2551
- Autosomal dominant vitreoretinochoroidopathy ORPHA:3086
- Weill-Marchesani syndrome ORPHA:3449
- Spondylo-ocular syndrome ORPHA:85194
- Ichthyosis-short stature-brachydactyly-microspherophakia syndrome ORPHA:363992
- Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome ORPHA:2084
- Lens position anomaly of genetic origin ORPHA:522552
- Isolated ectopia lentis ORPHA:1885
- Syndromic genetic ectopia lentis ORPHA:522554
- Marfan syndrome ORPHA:558
- Homocystinuria due to cystathionine beta-synthase deficiency ORPHA:394
- Encephalopathy due to sulfite oxidase deficiency ORPHA:833
- Isolated sulfite oxidase deficiency ORPHA:99731
- Sulfite oxidase deficiency due to molybdenum cofactor deficiency ORPHA:99732
- Marshall syndrome ORPHA:560
- Aniridia-intellectual disability syndrome ORPHA:1068
- Blepharoptosis-myopia-ectopia lentis syndrome ORPHA:1259
- Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome ORPHA:2084
- Focal dermal hypoplasia ORPHA:2092
- Epidermolysis bullosa simplex with anodontia/hypodontia ORPHA:2325
- Microspherophakia-metaphyseal dysplasia syndrome ORPHA:2551
- Weill-Marchesani syndrome ORPHA:3449
- Blindness-scoliosis-arachnodactyly syndrome ORPHA:171844
- Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome ORPHA:412022
- Coloboma of eye lens ORPHA:98943
- Anterior segment developmental anomaly of genetic origin ORPHA:522540
- Anterior segment developmental abnormality with extraocular manifestations ORPHA:519276
- Distal deletion 6p syndrome ORPHA:96125
- Syndromic aniridia ORPHA:98557
- WAGR syndrome ORPHA:893
- Aniridia-cerebellar ataxia-intellectual disability syndrome ORPHA:1065
- Aniridia-renal agenesis-psychomotor retardation syndrome ORPHA:1064
- Aniridia-absent patella syndrome ORPHA:1069
- Aniridia-ptosis-intellectual disability-familial obesity syndrome ORPHA:1067
- Aniridia-intellectual disability syndrome ORPHA:1068
- Uveal coloboma-cleft lip and palate-intellectual disability ORPHA:1473
- GMS syndrome ORPHA:2090
- Pierson syndrome ORPHA:2670
- SHORT syndrome ORPHA:3163
- Axenfeld-Rieger syndrome ORPHA:782
- Cat-eye syndrome ORPHA:195
- Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome ORPHA:139450
- Alagille syndrome ORPHA:52
- Alagille syndrome due to 20p12 microdeletion ORPHA:261600
- Alagille syndrome due to a JAG1 point mutation ORPHA:261619
- Alagille syndrome due to a NOTCH2 point mutation ORPHA:261629
- Peters plus syndrome ORPHA:709
- Stromme syndrome ORPHA:506307
- Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome ORPHA:52055
- Jung syndrome ORPHA:2321
- Anterior segment developmental anomaly without extraocular manifestations ORPHA:98634
- Bilateral acute depigmentation of the iris ORPHA:69736
- Axenfeld anomaly ORPHA:98978
- Congenital microcoria ORPHA:566
- Rieger anomaly ORPHA:91483
- Peters anomaly ORPHA:708
- Isolated aniridia ORPHA:250923
- Autosomal recessive anterior segment dysgenesis ORPHA:519388
- Congenital ectropion uveae ORPHA:91491
- Coloboma of iris ORPHA:98944
- Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome ORPHA:488197
- Rare genetic disorder with conjunctival involvement as a major feature ORPHA:522542
- Anterior segment developmental anomaly ORPHA:88632
- Chronic granulomatous disease ORPHA:379
- Genetic neuro-ophthalmological disease ORPHA:183616
- Rare genetic ophthalmic disorder with cranial nerve involvement ORPHA:522510
- Tolosa-Hunt syndrome ORPHA:64686
- Rare oculomotor nerve disorder ORPHA:98685
- Congenital trigeminal anesthesia ORPHA:231013
- Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome ORPHA:397618
- Congenital abducens nerve palsy ORPHA:440233
- Rare genetic optic nerve disorder ORPHA:522512
- Isolated optic nerve aplasia ORPHA:637064
- Hereditary optic neuropathy ORPHA:98671
- Leber hereditary optic neuropathy ORPHA:104
- Autosomal dominant optic atrophy ORPHA:98672
- Autosomal dominant optic atrophy plus syndrome ORPHA:1215
- Autosomal dominant optic atrophy and cataract ORPHA:67036
- Autosomal dominant optic atrophy, classic form ORPHA:98673
- Autosomal dominant optic atrophy and peripheral neuropathy ORPHA:250932
- Autosomal recessive isolated optic atrophy ORPHA:98676
- Leber plus disease ORPHA:99718
- Syndromic hereditary optic neuropathy ORPHA:441434
- Metachromatic leukodystrophy ORPHA:512
- Metachromatic leukodystrophy, late infantile form ORPHA:309256
- Metachromatic leukodystrophy, juvenile form ORPHA:309263
- Metachromatic leukodystrophy, adult form ORPHA:309271
- Septo-optic dysplasia spectrum ORPHA:3157
- MERRF ORPHA:551
- PLAA-associated neurodevelopmental disorder ORPHA:521426
- X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome ORPHA:482606
- Krabbe disease ORPHA:487
- Late-infantile/juvenile Krabbe disease ORPHA:206443
- Adult Krabbe disease ORPHA:206448
- Infantile Krabbe disease ORPHA:206436
- Pontocerebellar hypoplasia type 3 ORPHA:97249
- Infantile cerebellar-retinal degeneration ORPHA:313850
- Pelizaeus-Merzbacher disease ORPHA:702
- Pelizaeus-Merzbacher disease, connatal form ORPHA:280210
- Pelizaeus-Merzbacher disease, classic form ORPHA:280219
- Pelizaeus-Merzbacher disease, transitional form ORPHA:280224
- Pelizaeus-Merzbacher disease in female carriers ORPHA:280229
- Null syndrome ORPHA:280234
- Wolfram syndrome ORPHA:3463
- GAPO syndrome ORPHA:2067
- PEHO syndrome ORPHA:2836
- Severe X-linked intellectual disability, Gustavson type ORPHA:3078
- Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome ORPHA:1171
- Mohr-Tranebjaerg syndrome ORPHA:52368
- 3-methylglutaconic aciduria type 3 ORPHA:67047
- CAMOS syndrome ORPHA:83472
- Early-onset X-linked optic atrophy ORPHA:98890
- Spastic paraplegia type 7 ORPHA:99013
- X-linked Charcot-Marie-Tooth disease type 5 ORPHA:99014
- Spastic paraplegia type 2 ORPHA:99015
- Mitochondrial membrane protein-associated neurodegeneration ORPHA:289560
- Fatty acid hydroxylase-associated neurodegeneration ORPHA:329308
- Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome ORPHA:352654
- Short stature-optic atrophy-Pelger-Huët anomaly syndrome ORPHA:391677
- Optic atrophy-intellectual disability syndrome ORPHA:401777
- Wolfram-like syndrome ORPHA:411590
- Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder ORPHA:431320
- Spastic paraplegia-optic atrophy-neuropathy syndrome ORPHA:320406
- Autosomal recessive spastic paraplegia type 57 ORPHA:431329
- Autosomal recessive spastic paraplegia type 74 ORPHA:468661
- Autosomal recessive spastic paraplegia type 55 ORPHA:320375
- Tremor-ataxia-central hypomyelination syndrome ORPHA:447896
- Multiple mitochondrial dysfunctions syndrome type 4 ORPHA:457406
- Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome ORPHA:457205
- MEPAN syndrome ORPHA:508093
- C11ORF73-related autosomal recessive hypomyelinating leukodystrophy ORPHA:495844
- C12ORF65-related combined oxidative phosphorylation defect ORPHA:497623
- Combined oxidative phosphorylation defect type 7 ORPHA:254930
- Autosomal recessive spastic paraplegia type 55 ORPHA:320375
- Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ORPHA:496641
- Ocular anomalies-axonal neuropathy-developmental delay syndrome ORPHA:496790
- Autosomal recessive optic atrophy, OPA7 type ORPHA:227976
- Auditory neuropathy-optic atrophy syndrome ORPHA:542585
- Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome ORPHA:543470
- Riboflavin transporter deficiency ORPHA:97229
- Syndromic optic nerve hypoplasia ORPHA:137905
- Septo-optic dysplasia spectrum ORPHA:3157
- Polymicrogyria with optic nerve hypoplasia ORPHA:250972
- Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome ORPHA:603494
- Congenital optic disc excavation of genetic origin ORPHA:522514
- Morning glory disc anomaly ORPHA:35737
- Coloboma of optic disc ORPHA:98947
- Familial cavitary optic disc anomaly ORPHA:464760
- Disorder with optic nerve compression ORPHA:519337
- Pseudopapilledema ORPHA:519339
- Acrootoocular syndrome ORPHA:2980
- Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome ORPHA:313800
- Rare disorder with optic disc malformation ORPHA:519345
- Renal coloboma syndrome ORPHA:1475
- Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome ORPHA:435930
- Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome ORPHA:52055
- SRD5A3-CDG ORPHA:324737
- Isolated optic nerve hypoplasia ORPHA:637061
- Rare trochlear nerve disorder ORPHA:519353
- Rare genetic ophthalmic disorder with cortical involvement ORPHA:522508
- MELAS ORPHA:550
- Autosomal recessive primary microcephaly ORPHA:2512
- Cortical blindness-intellectual disability-polydactyly syndrome ORPHA:1389
- Oculomotor apraxia ORPHA:98688
- Ocular motor apraxia, Cogan type ORPHA:1125
- Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome ORPHA:370022
- Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome ORPHA:2072
- Gaucher disease type 3 ORPHA:77261
- Ataxia-oculomotor apraxia type 4 ORPHA:459033
- Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome ORPHA:505242
- Alexander disease type II ORPHA:363722
- Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome ORPHA:411986
- Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ORPHA:457351
- Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ORPHA:477814
- Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome ORPHA:480898
- Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome ORPHA:488613
- TELO2-related intellectual disability-neurodevelopmental disorder ORPHA:488642
- Rare genetic ocular motility/alignment disorder ORPHA:522516
- Rare genetic disorder with strabismus ORPHA:522518
- Syndromic genetic disorder with strabismus ORPHA:522520
- Mucolipidosis type IV ORPHA:578
- Ataxia-telangiectasia ORPHA:100
- Fragile X syndrome ORPHA:908
- Treacher-Collins syndrome ORPHA:861
- Neonatal adrenoleukodystrophy ORPHA:44
- Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome ORPHA:1369
- Moebius syndrome ORPHA:570
- Horizontal gaze palsy with progressive scoliosis ORPHA:2744
- Non-distal deletion 10q syndrome ORPHA:1581
- Aniridia-renal agenesis-psychomotor retardation syndrome ORPHA:1064
- Ataxia-deafness-intellectual disability syndrome ORPHA:1188
- Infantile choroidocerebral calcification syndrome ORPHA:1313
- Cataract-intellectual disability-anal atresia-urinary defects syndrome ORPHA:1381
- Coats disease ORPHA:190
- Cryptorchidism-arachnodactyly-intellectual disability syndrome ORPHA:1548
- X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome ORPHA:1568
- Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome ORPHA:2057
- Holoprosencephaly-craniosynostosis syndrome ORPHA:2163
- IVIC syndrome ORPHA:2307
- Marinesco-Sjögren syndrome ORPHA:559
- McDonough syndrome ORPHA:2471
- Microbrachycephaly-ptosis-cleft lip syndrome ORPHA:2511
- Mietens syndrome ORPHA:2557
- Cyprus facial-neuromusculoskeletal syndrome ORPHA:2674
- Oculoosteocutaneous syndrome ORPHA:2713
- Severe oculo-renal-cerebellar syndrome ORPHA:2715
- W syndrome ORPHA:2804
- Ptosis-strabismus-ectopic pupils syndrome ORPHA:2999
- Qazi-Markouizos syndrome ORPHA:3010
- Radial ray hypoplasia-choanal atresia syndrome ORPHA:3026
- Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome ORPHA:3038
- X-linked intellectual disability-seizures-psoriasis syndrome ORPHA:3052
- X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome ORPHA:3055
- Deaf blind hypopigmentation syndrome, Yemenite type ORPHA:3214
- Radioulnar synostosis-developmental delay-hypotonia syndrome ORPHA:3270
- Telecanthus-hypertelorism-strabismus-pes cavus syndrome ORPHA:3293
- Microcephaly-seizures-intellectual disability-heart disease syndrome ORPHA:2519
- Progeroid syndrome, Petty type ORPHA:2963
- Arachnodactyly-abnormal ossification-intellectual disability syndrome ORPHA:1129
- CHIME syndrome ORPHA:3474
- Leukocyte adhesion deficiency ORPHA:2968
- Leukocyte adhesion deficiency type I ORPHA:99842
- Leukocyte adhesion deficiency type II ORPHA:99843
- Leukocyte adhesion deficiency type III ORPHA:99844
- Brachydactyly-nystagmus-cerebellar ataxia syndrome ORPHA:1246
- Cartilage-hair hypoplasia ORPHA:175
- Congenital muscular dystrophy, Fukuyama type ORPHA:272
- Muscle-eye-brain disease ORPHA:588
- Neuroectodermal melanolysosomal disease ORPHA:33445
- Anterior maxillary protrusion-strabismus-intellectual disability syndrome ORPHA:562559
- GNAO1-related developmental delay-seizures-movement disorder spectrum ORPHA:592564
- Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome ORPHA:522077
- Nanophthalmos ORPHA:35612
- Morning glory disc anomaly ORPHA:35737
- Congenital fibrosis of extraocular muscles ORPHA:45358
- Branchiogenic deafness syndrome ORPHA:50815
- Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome ORPHA:73246
- Gaucher disease type 2 ORPHA:77260
- Monosomy 9q22.3 syndrome ORPHA:77301
- Alpha-N-acetylgalactosaminidase deficiency type 3 ORPHA:79281
- Oculocutaneous albinism type 1B ORPHA:79434
- Oculocutaneous albinism type 4 ORPHA:79435
- Christianson syndrome ORPHA:85278
- X-linked intellectual disability, Miles-Carpenter type ORPHA:85283
- Okihiro syndrome ORPHA:93293
- Okihiro syndrome due to 20q13 microdeletion ORPHA:261638
- Okihiro syndrome due to a point mutation ORPHA:261647
- Craniostenosis with strabismus ORPHA:98684
- Pfeiffer syndrome ORPHA:710
- Pfeiffer syndrome type 1 ORPHA:93258
- Pfeiffer syndrome type 2 ORPHA:93259
- Pfeiffer syndrome type 3 ORPHA:93260
- Saethre-Chotzen syndrome ORPHA:794
- Crouzon syndrome ORPHA:207
- Apert syndrome ORPHA:87
- Non-syndromic metopic craniosynostosis ORPHA:3366
- Non-syndromic sagittal craniosynostosis ORPHA:35093
- Non-syndromic bicoronal craniosynostosis ORPHA:35099
- Crouzon syndrome-acanthosis nigricans syndrome ORPHA:93262
- Haddad syndrome ORPHA:99803
- Frontonasal dysplasia-alopecia-genital anomalies syndrome ORPHA:228390
- 8q12 microduplication syndrome ORPHA:228399
- Intellectual disability-strabismus syndrome ORPHA:363528
- HIDEA syndrome ORPHA:436141
- Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome ORPHA:467176
- Rare genetic neuromuscular disorder with ocular motility/alignment anomaly ORPHA:522522
- Juvenile Huntington disease ORPHA:248111
- Huntington disease ORPHA:399
- Oculopharyngeal muscular dystrophy ORPHA:270
- Oculogastrointestinal muscular dystrophy ORPHA:1876
- Kearns-Sayre syndrome ORPHA:480
- Steinert myotonic dystrophy ORPHA:273
- Childhood-onset Steinert myotonic dystrophy ORPHA:589824
- Juvenile-onset Steinert myotonic dystrophy ORPHA:589827
- Adult-onset Steinert myotonic dystrophy ORPHA:589830
- Late-onset Steinert myotonic dystrophy ORPHA:589833
- Congenital-onset Steinert myotonic dystrophy ORPHA:589821
- Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome ORPHA:2743
- Mitochondrial neurogastrointestinal encephalomyopathy ORPHA:298
- Congenital myasthenic syndrome ORPHA:590
- Postsynaptic congenital myasthenic syndromes ORPHA:98913
- Presynaptic congenital myasthenic syndromes ORPHA:98914
- Synaptic congenital myasthenic syndromes ORPHA:98915
- Congenital myasthenic syndromes with glycosylation defect ORPHA:353327
- Duchenne muscular dystrophy ORPHA:98896
- Oculopharyngodistal myopathy ORPHA:98897
- Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy ORPHA:329336
- Progressive external ophthalmoplegia-myopathy-emaciation syndrome ORPHA:352447
- Childhood-onset autosomal recessive myopathy with external ophthalmoplegia ORPHA:363677
- Progressive external ophthalmoplegia ORPHA:520820
- Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature ORPHA:522506
- Pelizaeus-Merzbacher disease ORPHA:702
- Pelizaeus-Merzbacher disease, connatal form ORPHA:280210
- Pelizaeus-Merzbacher disease, classic form ORPHA:280219
- Pelizaeus-Merzbacher disease, transitional form ORPHA:280224
- Pelizaeus-Merzbacher disease in female carriers ORPHA:280229
- Null syndrome ORPHA:280234
- Duane retraction syndrome ORPHA:233
- Ataxia-oculomotor apraxia type 1 ORPHA:1168
- Spinocerebellar ataxia with axonal neuropathy type 2 ORPHA:64753
- Gaucher disease type 3 ORPHA:77261
- GM1 gangliosidosis type 1 ORPHA:79255
- GM1 gangliosidosis type 2 ORPHA:79256
- Supranuclear eye movement disorder ORPHA:98687
- Spinocerebellar ataxia type 7 ORPHA:94147
- Kufor-Rakeb syndrome ORPHA:306674
- Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type ORPHA:70472
- Wilson disease ORPHA:905
- Leigh syndrome ORPHA:506
- Progressive supranuclear palsy ORPHA:683
- Atypical progressive supranuclear palsy syndrome ORPHA:99750
- Progressive supranuclear palsy-predominant parkinsonism syndrome ORPHA:240085
- Progressive supranuclear palsy-pure akinesia with gait freezing syndrome ORPHA:240094
- Progressive supranuclear palsy-corticobasal syndrome ORPHA:240103
- Progressive supranuclear palsy-progressive non-fluent aphasia syndrome ORPHA:240112
- Classic progressive supranuclear palsy syndrome ORPHA:240071
- Niemann-Pick disease type C ORPHA:646
- Niemann-Pick disease type C, severe perinatal form ORPHA:216972
- Niemann-Pick disease type C, severe early infantile neurologic onset ORPHA:216975
- Niemann-Pick disease type C, late infantile neurologic onset ORPHA:216978
- Niemann-Pick disease type C, juvenile neurologic onset ORPHA:216981
- Niemann-Pick disease type C, adult neurologic onset ORPHA:216986
- Spinocerebellar ataxia type 1 ORPHA:98755
- Spinocerebellar ataxia type 2 ORPHA:98756
- Adult-onset autosomal dominant leukodystrophy ORPHA:99027
- Joubert syndrome and related disorders ORPHA:140874
- Joubert syndrome with oculorenal defect ORPHA:2318
- Joubert syndrome ORPHA:475
- Joubert syndrome with hepatic defect ORPHA:1454
- Orofaciodigital syndrome type 6 ORPHA:2754
- Joubert syndrome with ocular defect ORPHA:220493
- Joubert syndrome with renal defect ORPHA:220497
- Joubert syndrome with Jeune asphyxiating thoracic dystrophy ORPHA:397715
- Friedreich ataxia ORPHA:95
- Ataxia-telangiectasia ORPHA:100
- Duane retraction syndrome with congenital deafness ORPHA:529574
- Rare genetic disorder of the ocular adnexa ORPHA:522524
- Rare genetic disorder of the lacrimal apparatus ORPHA:522532
- Congenital alacrima ORPHA:98604
- Aplasia of lacrimal and salivary glands ORPHA:86815
- Familial dysautonomia ORPHA:1764
- Triple A syndrome ORPHA:869
- Isolated congenital alacrima ORPHA:91416
- Hypohidrotic ectodermal dysplasia ORPHA:238468
- X-linked hypohidrotic ectodermal dysplasia ORPHA:181
- Autosomal recessive hypohidrotic ectodermal dysplasia ORPHA:248
- Autosomal dominant hypohidrotic ectodermal dysplasia ORPHA:1810
- Intellectual disability-alacrima-achalasia syndrome ORPHA:289483
- Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome ORPHA:528105
- Alacrimia-choreoathetosis-liver dysfunction syndrome ORPHA:404454
- Hypohidrotic ectodermal dysplasia with immunodeficiency ORPHA:98813
- Lacrimal drainage system anomaly of genetic origin ORPHA:522534
- Familial congenital nasolacrimal duct obstruction ORPHA:451612
- Syndromic lacrimal system disorder ORPHA:519274
- EEC syndrome and related disorders ORPHA:98609
- Rare eyebrow/eyelash disorder ORPHA:98594
- Rare genetic palpebral disorder ORPHA:522526
- Congenital malformation of the eyelid ORPHA:98561
- Cryptophthalmia ORPHA:98562
- Microblepharon-ablephara syndrome ORPHA:98563
- Neu-Laxova syndrome ORPHA:2671
- Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency ORPHA:583602
- Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency ORPHA:583607
- Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency ORPHA:583612
- Ablepharon macrostomia syndrome ORPHA:920
- Eyelid border anomaly ORPHA:98564
- Isolated ankyloblepharon filiforme adnatum ORPHA:91397
- Syndromic ankyloblepharon filiforme adnatum ORPHA:98565
- Popliteal pterygium syndrome ORPHA:294963
- Microphthalmia-ankyloblepharon-intellectual disability syndrome ORPHA:85275
- Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome ORPHA:1071
- Ankyloblepharon filiforme adnatum-cleft palate syndrome ORPHA:1072
- Ankyloblepharon filiforme adnatum-imperforate anus syndrome ORPHA:1074
- Frontofacionasal dysplasia ORPHA:1791
- Syndromic eyelid coloboma ORPHA:98566
- Bartsocas-Papas syndrome ORPHA:1234
- Oculotrichoanal syndrome ORPHA:2717
- Treacher-Collins syndrome ORPHA:861
- Nager syndrome ORPHA:245
- Postaxial acrofacial dysostosis ORPHA:246
- Frontofacionasal dysplasia ORPHA:1791
- Nasopalpebral lipoma-coloboma syndrome ORPHA:2399
- Coloboma of eyelid ORPHA:98946
- Congenital eyelid retraction ORPHA:99176
- Rare genetic eyelid malposition disorder ORPHA:522528
- Ascher syndrome ORPHA:1253
- Syndromic epicanthus ORPHA:98574
- Turner syndrome ORPHA:881
- Monosomy X syndrome ORPHA:99226
- Mosaic monosomy X syndrome ORPHA:99228
- Turner syndrome due to structural X chromosome anomalies ORPHA:99413
- Down syndrome ORPHA:870
- Williams syndrome ORPHA:904
- Monosomy 5p syndrome ORPHA:281
- Monosomy 13q14 syndrome ORPHA:1587
- Distal duplication 14q syndrome ORPHA:1705
- Marinesco-Sjögren syndrome ORPHA:559
- Smith-Lemli-Opitz syndrome ORPHA:818
- Congenital cataracts-facial dysmorphism-neuropathy syndrome ORPHA:48431
- Syndromic telecanthus ORPHA:98575
- Waardenburg syndrome type 1 ORPHA:894
- Waardenburg syndrome type 3 ORPHA:896
- Oculocerebrofacial syndrome, Kaufman type ORPHA:2707
- Blepharophimosis-ptosis-epicanthus inversus syndrome ORPHA:126
- Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 ORPHA:572354
- Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 ORPHA:572361
- Opitz GBBB syndrome ORPHA:2745
- Blepharophimosis-ptosis-epicanthus inversus syndrome plus ORPHA:572333
- Syndromic outer canthal malposition ORPHA:98576
- Down syndrome ORPHA:870
- Noonan syndrome-like disorder with loose anagen hair ORPHA:2701
- Noonan syndrome ORPHA:648
- Treacher-Collins syndrome ORPHA:861
- Nager syndrome ORPHA:245
- Rare disorder with ptosis ORPHA:98578
- Jacobsen syndrome ORPHA:2308
- Camptodactyly-joint contractures-facial skeletal defects syndrome ORPHA:1323
- Steinert myotonic dystrophy ORPHA:273
- Childhood-onset Steinert myotonic dystrophy ORPHA:589824
- Juvenile-onset Steinert myotonic dystrophy ORPHA:589827
- Adult-onset Steinert myotonic dystrophy ORPHA:589830
- Late-onset Steinert myotonic dystrophy ORPHA:589833
- Congenital-onset Steinert myotonic dystrophy ORPHA:589821
- Mucopolysaccharidosis type 2 ORPHA:580
- Mucopolysaccharidosis type 2, severe form ORPHA:217085
- Mucopolysaccharidosis type 2, attenuated form ORPHA:217093
- Noonan syndrome ORPHA:648
- Saethre-Chotzen syndrome ORPHA:794
- Blepharophimosis-ptosis-epicanthus inversus syndrome ORPHA:126
- Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 ORPHA:572354
- Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 ORPHA:572361
- Treacher-Collins syndrome ORPHA:861
- Cornelia de Lange syndrome ORPHA:199
- X-linked centronuclear myopathy ORPHA:596
- Dubowitz syndrome ORPHA:235
- Proximal myotonic myopathy ORPHA:606
- Oculopharyngeal muscular dystrophy ORPHA:270
- Oculogastrointestinal muscular dystrophy ORPHA:1876
- Borjeson-Forssman-Lehmann syndrome ORPHA:127
- Atrioventricular defect-blepharophimosis-radial and anal defect syndrome ORPHA:1352
- Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome ORPHA:2057
- Acrootoocular syndrome ORPHA:2980
- Ptosis-vocal cord paralysis syndrome ORPHA:2997
- Ptosis-strabismus-ectopic pupils syndrome ORPHA:2999
- Baraitser-Winter cerebrofrontofacial syndrome ORPHA:2995
- Mitochondrial DNA-related progressive external ophthalmoplegia ORPHA:663
- Smith-Lemli-Opitz syndrome ORPHA:818
- Mitochondrial neurogastrointestinal encephalomyopathy ORPHA:298
- Congenital myasthenic syndrome ORPHA:590
- Postsynaptic congenital myasthenic syndromes ORPHA:98913
- Presynaptic congenital myasthenic syndromes ORPHA:98914
- Synaptic congenital myasthenic syndromes ORPHA:98915
- Congenital myasthenic syndromes with glycosylation defect ORPHA:353327
- Dopamine beta-hydroxylase deficiency ORPHA:230
- Congenital fibrosis of extraocular muscles ORPHA:45358
- Char syndrome ORPHA:46627
- Goldberg-Shprintzen megacolon syndrome ORPHA:66629
- Congenital ptosis ORPHA:91411
- Marcus-Gunn syndrome ORPHA:91412
- Congenital Horner syndrome ORPHA:91413
- Oculopharyngodistal myopathy ORPHA:98897
- Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome ORPHA:228396
- Blepharophimosis-intellectual disability syndrome ORPHA:293642
- Distal deletion 3p syndrome ORPHA:1620
- Blepharophimosis-intellectual disability syndrome, Ohdo type ORPHA:2728
- Blepharophimosis-intellectual disability syndrome, SBBYS type ORPHA:3047
- Blepharophimosis-intellectual disability syndrome, MKB type ORPHA:293707
- Blepharophimosis-intellectual disability syndrome, Verloes type ORPHA:293725
- SMARCA2-related blepharophimosis-intellectual disability syndrome ORPHA:637013
- Weiss-Kruszka Syndrome ORPHA:502430
- Blepharophimosis-ptosis-epicanthus inversus syndrome plus ORPHA:572333
- Epiblepharon ORPHA:99169
- Euryblepharon ORPHA:99172
- Rare disorder with ectropion ORPHA:519268
- Secondary ectropion ORPHA:98571
- Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome ORPHA:2269
- Xeroderma pigmentosum ORPHA:910
- Xeroderma pigmentosum variant ORPHA:90342
- Xeroderma pigmentosum-Cockayne syndrome complex ORPHA:220295
- Autosomal recessive congenital ichthyosis ORPHA:281097
- Lamellar ichthyosis ORPHA:313
- Harlequin ichthyosis ORPHA:457
- Congenital ichthyosiform erythroderma ORPHA:79394
- Bathing suit ichthyosis ORPHA:100976
- Self-improving collodion baby ORPHA:281122
- Acral self-healing collodion baby ORPHA:281127
- Exfoliative ichthyosis ORPHA:289586
- Down syndrome ORPHA:870
- Postaxial acrofacial dysostosis ORPHA:246
- Barber-Say syndrome ORPHA:1231
- Congenital ectropion ORPHA:98570
- Rare genetic disorder with entropion ORPHA:522530
- Rare disorder with pigmented sclera ORPHA:519296
- Silver-Russell syndrome ORPHA:813
- Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 ORPHA:96182
- Silver-Russell syndrome due to 7p11.2p13 microduplication ORPHA:231137
- Silver-Russell syndrome due to an imprinting defect of 11p15 ORPHA:231140
- Silver-Russell syndrome due to 11p15 microduplication ORPHA:231144
- Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 ORPHA:231147
- Silver-Russell syndrome due to a point mutation ORPHA:397590
- Dyssegmental dysplasia, Silverman-Handmaker type ORPHA:1865
- Cole-Carpenter syndrome ORPHA:2050
- Grant syndrome ORPHA:2097
- Grubben-de Cock-Borghgraef syndrome ORPHA:2101
- Hydrocephalus-blue sclerae-nephropathy syndrome ORPHA:2186
- White forelock with malformations ORPHA:2475
- Melnick-Needles syndrome ORPHA:2484
- Cartilage-hair hypoplasia ORPHA:175
- Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency ORPHA:1900
- Braddock syndrome ORPHA:52047
- Sensorineural hearing loss-early graying-essential tremor syndrome ORPHA:66633
- SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome ORPHA:157965
- Osteogenesis imperfecta type 1 ORPHA:216796
- Osteogenesis imperfecta type 2 ORPHA:216804
- Osteogenesis imperfecta type 3 ORPHA:216812
- Osteogenesis imperfecta type 4 ORPHA:216820
- Alkaptonuria ORPHA:56
- Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome ORPHA:2772
- Rare genetic disorder of the posterior segment of the eye ORPHA:522570
- Coloboma of choroid and retina ORPHA:98942
- Rare genetic choroidal disorder ORPHA:522584
- Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome ORPHA:139450
- Isolated chorioretinal dystrophy ORPHA:519300
- Sorsby pseudoinflammatory fundus dystrophy ORPHA:59181
- Choroideremia ORPHA:180
- Ectopia lentis-chorioretinal dystrophy-myopia syndrome ORPHA:1884
- Bietti crystalline dystrophy ORPHA:41751
- Helicoid peripapillary chorioretinal degeneration ORPHA:86813
- Progressive bifocal chorioretinal atrophy ORPHA:75373
- Central areolar choroidal dystrophy ORPHA:75377
- Pigmented paravenous retinochoroidal atrophy ORPHA:251295
- Central serous chorioretinopathy ORPHA:443079
- Syndromic chorioretinal dystrophy ORPHA:519321
- Xq21 microdeletion syndrome ORPHA:1435
- Aicardi syndrome ORPHA:50
- Ataxia-hypogonadism-choroidal dystrophy syndrome ORPHA:1180
- Choroidal atrophy-alopecia syndrome ORPHA:1433
- Microcephaly-lymphedema-chorioretinopathy syndrome ORPHA:2526
- Microcornea-myopic chorioretinal atrophy-telecanthus syndrome ORPHA:369970
- Autosomal recessive chorioretinopathy-microcephaly syndrome ORPHA:2518
- Van den Bosch syndrome ORPHA:3417
- Rare genetic retinal disorder ORPHA:522572
- X-linked retinal dysplasia ORPHA:1852
- Inherited retinal disorder ORPHA:71862
- Syndromic inherited retinal disorder ORPHA:519325
- Farber disease ORPHA:333
- Mucolipidosis type IV ORPHA:578
- Sandhoff disease ORPHA:796
- Sandhoff disease, infantile form ORPHA:309155
- Sandhoff disease, juvenile form ORPHA:309162
- Sandhoff disease, adult form ORPHA:309169
- Aicardi syndrome ORPHA:50
- Galactosialidosis ORPHA:351
- Tay-Sachs disease ORPHA:845
- Tay-Sachs disease, infantile form ORPHA:309178
- Tay-Sachs disease, juvenile form ORPHA:309185
- Tay-Sachs disease, adult form ORPHA:309192
- Alström syndrome ORPHA:64
- Amaurosis-hypertrichosis syndrome ORPHA:1021
- Aplasia cutis-myopia syndrome ORPHA:1117
- Ataxia-hypogonadism-choroidal dystrophy syndrome ORPHA:1180
- Knobloch syndrome ORPHA:1571
- Hypotrichosis with juvenile macular degeneration ORPHA:1573
- Jalili syndrome ORPHA:1873
- Cleft lip-retinopathy syndrome ORPHA:1995
- Ramos-Arroyo syndrome ORPHA:1051
- Cerebellar hypoplasia-tapetoretinal degeneration syndrome ORPHA:2246
- Autosomal recessive chorioretinopathy-microcephaly syndrome ORPHA:2518
- Microcephaly-lymphedema-chorioretinopathy syndrome ORPHA:2526
- Severe oculo-renal-cerebellar syndrome ORPHA:2715
- Revesz syndrome ORPHA:3088
- Pseudoxanthoma elasticum ORPHA:758
- Aceruloplasminemia ORPHA:48818
- MORM syndrome ORPHA:75858
- Gaucher disease type 1 ORPHA:77259
- Infantile neurovisceral acid sphingomyelinase deficiency ORPHA:77292
- GM1 gangliosidosis type 1 ORPHA:79255
- Gardner syndrome ORPHA:79665
- Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome ORPHA:85167
- Snowflake vitreoretinal degeneration ORPHA:91496
- Primary hyperoxaluria type 1 ORPHA:93598
- Syndromic rod-cone dystrophy ORPHA:98661
- Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome ORPHA:171848
- Xeroderma pigmentosum-Cockayne syndrome complex ORPHA:220295
- Primary ciliary dyskinesia-retinitis pigmentosa syndrome ORPHA:247522
- Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome ORPHA:314572
- Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome ORPHA:436245
- Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa ORPHA:436274
- Kearns-Sayre syndrome ORPHA:480
- Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome ORPHA:3085
- Cohen syndrome ORPHA:193
- Laurence-Moon syndrome ORPHA:2377
- Cockayne syndrome ORPHA:191
- COFS syndrome ORPHA:1466
- Cockayne syndrome type 1 ORPHA:90321
- Cockayne syndrome type 2 ORPHA:90322
- Cockayne syndrome type 3 ORPHA:90324
- Usher syndrome ORPHA:886
- Usher syndrome type 3 ORPHA:231183
- Usher syndrome type 1 ORPHA:231169
- Usher syndrome type 2 ORPHA:231178
- Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome ORPHA:2235
- Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome ORPHA:2579
- Oculotrichodysplasia ORPHA:2718
- Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome ORPHA:3011
- Bardet-Biedl syndrome ORPHA:110
- Saldino-Mainzer syndrome ORPHA:140969
- RHYNS syndrome ORPHA:140976
- Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement ORPHA:2196
- Senior-Loken syndrome ORPHA:3156
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ORPHA:5
- X-linked intellectual disability-retinitis pigmentosa syndrome ORPHA:85332
- MRCS syndrome ORPHA:263347
- Ataxia with vitamin E deficiency ORPHA:96
- NARP syndrome ORPHA:644
- Abetalipoproteinemia ORPHA:14
- Refsum disease ORPHA:773
- Tricho-retino-dento-digital syndrome ORPHA:1264
- Cranioectodermal dysplasia ORPHA:1515
- Retinal degeneration-nanophthalmos-glaucoma syndrome ORPHA:1574
- Trichomegaly-retina pigmentary degeneration-dwarfism syndrome ORPHA:3363
- Hardikar syndrome ORPHA:1415
- Peroxisome biogenesis disorder ORPHA:79189
- Zellweger syndrome ORPHA:912
- Neonatal adrenoleukodystrophy ORPHA:44
- Infantile Refsum disease ORPHA:772
- Methylmalonic acidemia with homocystinuria, type cblC ORPHA:79282
- Brachydactyly-short stature-retinitis pigmentosa syndrome ORPHA:166035
- Axial spondylometaphyseal dysplasia ORPHA:168549
- Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome ORPHA:494439
- Pantothenate kinase-associated neurodegeneration ORPHA:157850
- Classic pantothenate kinase-associated neurodegeneration ORPHA:216866
- Atypical pantothenate kinase-associated neurodegeneration ORPHA:216873
- Blindness-scoliosis-arachnodactyly syndrome ORPHA:171844
- Joubert syndrome with ocular defect ORPHA:220493
- AICA-ribosiduria ORPHA:250977
- Sialidosis ORPHA:309294
- Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome ORPHA:313800
- Joubert syndrome with oculorenal defect ORPHA:2318
- Sjögren-Larsson syndrome ORPHA:816
- Stickler syndrome ORPHA:828
- Stickler syndrome type 1 ORPHA:90653
- Stickler syndrome type 2 ORPHA:90654
- Autosomal recessive Stickler syndrome ORPHA:250984
- Infantile cerebellar-retinal degeneration ORPHA:313850
- Progressive retinal dystrophy due to retinol transport defect ORPHA:352718
- Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies ORPHA:397758
- X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency ORPHA:423479
- Martinique crinkled retinal pigment epitheliopathy ORPHA:466718
- Syndromic macular dystrophy ORPHA:519323
- Macular coloboma-cleft palate-hallux valgus syndrome ORPHA:91494
- Coloboma of macula-brachydactyly type B syndrome ORPHA:1471
- EEM syndrome ORPHA:1897
- Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement ORPHA:2196
- Orofaciodigital syndrome type 9 ORPHA:141007
- Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome ORPHA:589442
- KLHL7-related Crisponi/cold-induced sweating-like syndrome ORPHA:603694
- KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome ORPHA:603684
- Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome ORPHA:611207
- Isolated inherited retinal disorder ORPHA:520817
- Isolated progressive inherited retinal disorder ORPHA:519306
- Goldmann-Favre syndrome ORPHA:53540
- Late-onset retinal degeneration ORPHA:67042
- Severe early-childhood-onset retinal dystrophy ORPHA:364055
- Bothnia retinal dystrophy ORPHA:85128
- Åland Islands eye disease ORPHA:178333
- Cone dystrophy with supernormal rod response ORPHA:209932
- Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome ORPHA:488197
- Retinitis pigmentosa ORPHA:791
- Progressive cone dystrophy ORPHA:1871
- Cone rod dystrophy ORPHA:1872
- Leber congenital amaurosis ORPHA:65
- Autosomal recessive bestrophinopathy ORPHA:139455
- Isolated macular dystrophy ORPHA:519302
- Best vitelliform macular dystrophy ORPHA:1243
- Stargardt disease ORPHA:827
- Sorsby pseudoinflammatory fundus dystrophy ORPHA:59181
- Pattern dystrophy ORPHA:63454
- Adult-onset foveomacular vitelliform dystrophy ORPHA:99000
- Butterfly-shaped pigment dystrophy ORPHA:99001
- Reticular dystrophy of the retinal pigment epithelium ORPHA:99002
- Multifocal pattern dystrophy simulating fundus flavimaculatus ORPHA:99003
- Fundus pulverulentus ORPHA:99004
- North Carolina macular dystrophy ORPHA:75327
- Central areolar choroidal dystrophy ORPHA:75377
- Cystoid macular dystrophy ORPHA:75381
- Occult macular dystrophy ORPHA:247834
- Benign concentric annular macular dystrophy ORPHA:251287
- Retinal macular dystrophy type 2 ORPHA:319640
- Cone rod dystrophy-short stature syndrome ORPHA:653709
- Retinitis punctata albescens ORPHA:52427
- Isolated stationary inherited retinal disorder ORPHA:519319
- Bietti crystalline dystrophy ORPHA:41751
- Achromatopsia ORPHA:49382
- Oligocone trichromacy ORPHA:75378
- X-linked cone dysfunction syndrome with myopia ORPHA:90001
- Kandori fleck retina ORPHA:99179
- Blue cone monochromatism ORPHA:16
- Congenital stationary night blindness ORPHA:215
- Familial drusen ORPHA:75376
- Familial benign flecked retina ORPHA:363989
- Stargardt disease ORPHA:827
- Oguchi disease ORPHA:75382
- Fundus albipunctatus ORPHA:227796
- Bradyopsia ORPHA:75374
- Autosomal dominant rhegmatogenous retinal detachment ORPHA:209867
- Rare genetic macular disorder ORPHA:522574
- Rare genetic retinal vasculopathy ORPHA:522576
- Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy ORPHA:136
- Coats disease ORPHA:190
- Familial exudative vitreoretinopathy ORPHA:891
- Eales disease ORPHA:40923
- Retinal capillary malformation ORPHA:71213
- IRVAN syndrome ORPHA:209943
- Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ORPHA:247691
- Familial retinal arterial macroaneurysm ORPHA:284247
- Coats plus syndrome ORPHA:313838
- Autosomal dominant neovascular inflammatory vitreoretinopathy ORPHA:329211
- Congenital retinal arteriovenous communication ORPHA:353334
- Stromme syndrome ORPHA:506307
- Susac syndrome ORPHA:838
- Cathepsin A-related arteriopathy-strokes-leukoencephalopathy ORPHA:575553
- Vitreoretinopathy ORPHA:98668
- Isolated vitreoretinopathy ORPHA:519304
- Autosomal dominant vitreoretinochoroidopathy ORPHA:3086
- Autosomal dominant neovascular inflammatory vitreoretinopathy ORPHA:329211
- Coats disease ORPHA:190
- Familial exudative vitreoretinopathy ORPHA:891
- Wagner disease ORPHA:898
- Goldmann-Favre syndrome ORPHA:53540
- Persistent hyperplastic primary vitreous ORPHA:91495
- Snowflake vitreoretinal degeneration ORPHA:91496
- Syndromic vitreoretinopathy ORPHA:519327
- Trisomy 13 syndrome ORPHA:3378
- Norrie disease ORPHA:649
- Incontinentia pigmenti ORPHA:464
- Stickler syndrome ORPHA:828
- Stickler syndrome type 1 ORPHA:90653
- Stickler syndrome type 2 ORPHA:90654
- Autosomal recessive Stickler syndrome ORPHA:250984
- Knobloch syndrome ORPHA:1571
- Osteoporosis-pseudoglioma syndrome ORPHA:2788
- Walker-Warburg syndrome ORPHA:899
- Spondylo-ocular syndrome ORPHA:85194
- Coats plus syndrome ORPHA:313838
- Rare genetic disorder involving multiple structures of the eye ORPHA:522578
- Pediatric-onset glaucoma of genetic origin ORPHA:359
- Primary early-onset glaucoma ORPHA:156005
- Secondary early-onset glaucoma of genetic origin ORPHA:522580
- Genetic congenital malformation of the eye with glaucoma as a major feature ORPHA:525677
- X-linked retinoschisis ORPHA:792
- Coats disease ORPHA:190
- Nanophthalmos ORPHA:35612
- Iridocorneal endothelial syndrome ORPHA:64734
- Anterior segment developmental anomaly without extraocular manifestations ORPHA:98634
- Bilateral acute depigmentation of the iris ORPHA:69736
- Axenfeld anomaly ORPHA:98978
- Congenital microcoria ORPHA:566
- Rieger anomaly ORPHA:91483
- Peters anomaly ORPHA:708
- Isolated aniridia ORPHA:250923
- Autosomal recessive anterior segment dysgenesis ORPHA:519388
- Congenital ectropion uveae ORPHA:91491
- Coloboma of iris ORPHA:98944
- Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome ORPHA:488197
- Posterior polymorphous corneal dystrophy ORPHA:98973
- Glaucoma secondary to spherophakia/ectopia lentis and megalocornea ORPHA:238763
- Rare disease with glaucoma as a major feature ORPHA:98638
- Aniridia-absent patella syndrome ORPHA:1069
- Blepharoptosis-myopia-ectopia lentis syndrome ORPHA:1259
- Desbuquois syndrome ORPHA:1425
- Microcornea-glaucoma-absent frontal sinuses syndrome ORPHA:2536
- Microcephalic osteodysplastic primordial dwarfism types I and III ORPHA:2636
- Spastic paraplegia-glaucoma-intellectual disability syndrome ORPHA:2818
- Congenital muscular dystrophy, Fukuyama type ORPHA:272
- Muscle-eye-brain disease ORPHA:588
- Nail-patella syndrome ORPHA:2614
- Mosaic variegated aneuploidy syndrome ORPHA:1052
- Von Hippel-Lindau disease ORPHA:892
- Oculocerebrorenal syndrome of Lowe ORPHA:534
- Rubinstein-Taybi syndrome ORPHA:783
- Rubinstein-Taybi syndrome due to CREBBP mutations ORPHA:353277
- Rubinstein-Taybi syndrome due to 16p13.3 microdeletion ORPHA:353281
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ORPHA:353284
- Homocystinuria due to cystathionine beta-synthase deficiency ORPHA:394
- WAGR syndrome ORPHA:893
- Marshall syndrome ORPHA:560
- Sturge-Weber syndrome ORPHA:3205
- Stickler syndrome ORPHA:828
- Stickler syndrome type 1 ORPHA:90653
- Stickler syndrome type 2 ORPHA:90654
- Autosomal recessive Stickler syndrome ORPHA:250984
- Peters plus syndrome ORPHA:709
- Glaucoma-sleep apnea syndrome ORPHA:2085
- Lowry-MacLean syndrome ORPHA:2409
- Microphthalmia with linear skin defects syndrome ORPHA:2556
- Oculofaciocardiodental syndrome ORPHA:2712
- Phakomatosis pigmentovascularis ORPHA:2875
- Phakomatosis cesioflammea ORPHA:79483
- Phakomatosis cesiomarmorata ORPHA:79484
- Phakomatosis spilorosea ORPHA:79485
- SHORT syndrome ORPHA:3163
- Weill-Marchesani syndrome ORPHA:3449
- Axenfeld-Rieger syndrome ORPHA:782
- Mucopolysaccharidosis ORPHA:79213
- Hyaluronidase deficiency ORPHA:67041
- Mucopolysaccharidosis type 6 ORPHA:583
- Mucopolysaccharidosis type 6, rapidly progressing ORPHA:276212
- Mucopolysaccharidosis type 6, slowly progressing ORPHA:276223
- Mucopolysaccharidosis type 7 ORPHA:584
- Mucopolysaccharidosis type 2 ORPHA:580
- Mucopolysaccharidosis type 2, severe form ORPHA:217085
- Mucopolysaccharidosis type 2, attenuated form ORPHA:217093
- Mucopolysaccharidosis type 1 ORPHA:579
- Mucopolysaccharidosis type 3 ORPHA:581
- Sanfilippo syndrome type A ORPHA:79269
- Sanfilippo syndrome type B ORPHA:79270
- Sanfilippo syndrome type C ORPHA:79271
- Sanfilippo syndrome type D ORPHA:79272
- Mucopolysaccharidosis type 4 ORPHA:582
- Mucopolysaccharidosis type 10 ORPHA:662216
- Distal deletion 6p syndrome ORPHA:96125
- Aniridia-renal agenesis-psychomotor retardation syndrome ORPHA:1064
- Oculocutaneous or ocular albinism ORPHA:98706
- Oculocutaneous albinism ORPHA:55
- Oculocutaneous albinism type 2 ORPHA:79432
- Oculocutaneous albinism type 3 ORPHA:79433
- Oculocutaneous albinism type 4 ORPHA:79435
- Oculocutaneous albinism type 1 ORPHA:352731
- Oculocutaneous albinism type 1A ORPHA:79431
- Oculocutaneous albinism type 1B ORPHA:79434
- Minimal pigment oculocutaneous albinism type 1 ORPHA:352734
- Temperature-sensitive oculocutaneous albinism type 1 ORPHA:352737
- Oculocutaneous albinism type 7 ORPHA:352745
- Oculocutaneous albinism type 5 ORPHA:370091
- Oculocutaneous albinism type 6 ORPHA:370097
- Oculocutaneous albinism type 8 ORPHA:597733
- Ocular albinism ORPHA:284804
- Ocular albinism with late-onset sensorineural deafness ORPHA:1000
- X-linked recessive ocular albinism ORPHA:54
- Syndromic oculocutaneous albinism ORPHA:284811
- Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome ORPHA:603494
- Chédiak-Higashi syndrome ORPHA:167
- Griscelli syndrome ORPHA:381
- Griscelli syndrome type 1 ORPHA:79476
- Griscelli syndrome type 2 ORPHA:79477
- Griscelli syndrome type 3 ORPHA:79478
- Oculocerebral hypopigmentation syndrome, Cross type ORPHA:2719
- Hermansky-Pudlak syndrome ORPHA:79430
- Hermansky-Pudlak syndrome due to AP-3 deficiency ORPHA:183678
- Hermansky-Pudlak syndrome due to AP3B1 deficiency ORPHA:664500
- Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency ORPHA:664511
- Hermansky-Pudlak syndrome due to BLOC-3 deficiency ORPHA:231500
- Hermansky-Pudlak syndrome due to BLOC-2 deficiency ORPHA:231512
- Hermansky-Pudlak syndrome due to BLOC-1 deficiency ORPHA:231531
- Oculocerebral hypopigmentation syndrome, Preus type ORPHA:2720
- Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome ORPHA:314555
- Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome ORPHA:617449
- Rare refraction anomaly ORPHA:98618
- Color-vision disease ORPHA:98658
- Genetic eye tumor ORPHA:183619
- Inherited cancer-predisposing syndrome ORPHA:140162
- Melanoma and neural system tumor syndrome ORPHA:252206
- Rhabdoid tumor predisposition syndrome ORPHA:231108
- Gorlin syndrome ORPHA:377
- Blue rubber bleb nevus ORPHA:1059
- Dyskeratosis congenita ORPHA:1775
- Ollier disease ORPHA:296
- Inherited epidermodysplasia verruciformis ORPHA:302
- Common variable immunodeficiency ORPHA:1572
- Kostmann syndrome ORPHA:99749
- Maffucci syndrome ORPHA:163634
- Polymalformative genetic syndrome with increased risk of developing cancer ORPHA:183422
- Ataxia-telangiectasia ORPHA:100
- Wiskott-Aldrich syndrome ORPHA:906
- Rubinstein-Taybi syndrome ORPHA:783
- Rubinstein-Taybi syndrome due to CREBBP mutations ORPHA:353277
- Rubinstein-Taybi syndrome due to 16p13.3 microdeletion ORPHA:353281
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ORPHA:353284
- Noonan syndrome ORPHA:648
- WAGR syndrome ORPHA:893
- Peutz-Jeghers syndrome ORPHA:2869
- Saethre-Chotzen syndrome ORPHA:794
- Alagille syndrome ORPHA:52
- Alagille syndrome due to 20p12 microdeletion ORPHA:261600
- Alagille syndrome due to a JAG1 point mutation ORPHA:261619
- Alagille syndrome due to a NOTCH2 point mutation ORPHA:261629
- Aicardi syndrome ORPHA:50
- Beckwith-Wiedemann syndrome ORPHA:116
- Beckwith-Wiedemann syndrome due to 11p15 microduplication ORPHA:96076
- Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 ORPHA:96193
- Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 ORPHA:231117
- Beckwith-Wiedemann syndrome due to CDKN1C mutation ORPHA:231120
- Beckwith-Wiedemann syndrome due to 11p15 microdeletion ORPHA:231127
- Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion ORPHA:231130
- Beckwith-Wiedemann syndrome due to NSD1 mutation ORPHA:238613
- McCune-Albright syndrome ORPHA:562
- Diamond-Blackfan anemia ORPHA:124
- Bloom syndrome ORPHA:125
- Costello syndrome ORPHA:3071
- Silver-Russell syndrome ORPHA:813
- Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 ORPHA:96182
- Silver-Russell syndrome due to 7p11.2p13 microduplication ORPHA:231137
- Silver-Russell syndrome due to an imprinting defect of 11p15 ORPHA:231140
- Silver-Russell syndrome due to 11p15 microduplication ORPHA:231144
- Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 ORPHA:231147
- Silver-Russell syndrome due to a point mutation ORPHA:397590
- Sotos syndrome ORPHA:821
- Fanconi anemia ORPHA:84
- Cockayne syndrome ORPHA:191
- COFS syndrome ORPHA:1466
- Cockayne syndrome type 1 ORPHA:90321
- Cockayne syndrome type 2 ORPHA:90322
- Cockayne syndrome type 3 ORPHA:90324
- Tuberous sclerosis complex ORPHA:805
- Simpson-Golabi-Behmel syndrome ORPHA:373
- Werner syndrome ORPHA:902
- Noonan syndrome with multiple lentigines ORPHA:500
- Mosaic variegated aneuploidy syndrome ORPHA:1052
- Isolated hemihyperplasia ORPHA:2128
- Schinzel-Giedion syndrome ORPHA:798
- Nijmegen breakage syndrome ORPHA:647
- Xeroderma pigmentosum ORPHA:910
- Perlman syndrome ORPHA:2849
- Tyrosinemia type 1 ORPHA:882
- Denys-Drash syndrome ORPHA:220
- Frasier syndrome ORPHA:347
- Shwachman-Diamond syndrome ORPHA:811
- Schöpf-Schulz-Passarge syndrome ORPHA:50944
- Megalencephaly-capillary malformation-polymicrogyria syndrome ORPHA:60040
- Bazex syndrome ORPHA:166113
- Xeroderma pigmentosum-Cockayne syndrome complex ORPHA:220295
- Rothmund-Thomson syndrome type 2 ORPHA:221016
- Nijmegen breakage syndrome-like disorder ORPHA:240760
- Ataxia-telangiectasia-like disorder ORPHA:251347
- Warsaw breakage syndrome ORPHA:280558
- PTEN hamartoma tumor syndrome ORPHA:306498
- Cowden syndrome ORPHA:201
- Lhermitte-Duclos disease ORPHA:65285
- Bannayan-Riley-Ruvalcaba syndrome ORPHA:109
- Proteus-like syndrome ORPHA:2969
- Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome ORPHA:137608
- Noonan syndrome-like disorder with juvenile myelomonocytic leukemia ORPHA:363972
- PCNA-related progressive neurodegenerative photosensitivity syndrome ORPHA:438134
- Cernunnos-XLF deficiency ORPHA:169079
- N syndrome ORPHA:2608
- Xeroderma pigmentosum variant ORPHA:90342
- LIG4 syndrome ORPHA:99812
- Constitutional mismatch repair deficiency syndrome ORPHA:252202
- Familial multinodular goiter ORPHA:276399
- BAP1-related tumor predisposition syndrome ORPHA:289539
- MITF-related melanoma and renal cell carcinoma predisposition syndrome ORPHA:293822
- Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome ORPHA:313846
- Inherited renal cancer-predisposing syndrome ORPHA:319328
- Perlman syndrome ORPHA:2849
- Beckwith-Wiedemann syndrome ORPHA:116
- Beckwith-Wiedemann syndrome due to 11p15 microduplication ORPHA:96076
- Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 ORPHA:96193
- Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 ORPHA:231117
- Beckwith-Wiedemann syndrome due to CDKN1C mutation ORPHA:231120
- Beckwith-Wiedemann syndrome due to 11p15 microdeletion ORPHA:231127
- Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion ORPHA:231130
- Beckwith-Wiedemann syndrome due to NSD1 mutation ORPHA:238613
- Hereditary papillary renal cell carcinoma ORPHA:47044
- Familial papillary thyroid carcinoma with renal papillary neoplasia ORPHA:97290
- Hyperparathyroidism-jaw tumor syndrome ORPHA:99880
- Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations ORPHA:319462
- Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome ORPHA:404476
- Hereditary clear cell renal cell carcinoma ORPHA:422526
- Von Hippel-Lindau disease ORPHA:892
- Tuberous sclerosis complex ORPHA:805
- Birt-Hogg-Dubé syndrome ORPHA:122
- Hereditary leiomyomatosis and renal cell cancer ORPHA:523
- WAGR syndrome ORPHA:893
- Hereditary retinoblastoma ORPHA:357027
- Familial atypical multiple mole melanoma syndrome ORPHA:404560
- Inherited digestive cancer-predisposing syndrome ORPHA:425003
- Familial medullary thyroid carcinoma ORPHA:99361
- Multiple endocrine neoplasia type 2 ORPHA:653
- Intestinal polyposis syndrome ORPHA:104010
- Hereditary mixed polyposis syndrome ORPHA:157794
- Serrated polyposis syndrome ORPHA:157798
- Attenuated familial adenomatous polyposis ORPHA:220460
- MUTYH-related attenuated familial adenomatous polyposis ORPHA:247798
- APC-related attenuated familial adenomatous polyposis ORPHA:247806
- MSH3-related attenuated familial adenomatous polyposis ORPHA:480536
- Polymerase proofreading-related adenomatous polyposis ORPHA:447877
- NTHL1-related attenuated familial adenomatous polyposis ORPHA:454840
- Familial adenomatous polyposis ORPHA:733
- Gardner syndrome ORPHA:79665
- Turcot syndrome with polyposis ORPHA:99818
- Familial adenomatous polyposis due to 5q22.2 microdeletion ORPHA:261584
- Peutz-Jeghers syndrome ORPHA:2869
- AXIN2-related attenuated familial adenomatous polyposis ORPHA:401911
- Cowden syndrome ORPHA:201
- Juvenile polyposis syndrome ORPHA:2929
- Juvenile polyposis of infancy ORPHA:79076
- Generalized juvenile polyposis/juvenile polyposis coli ORPHA:329971
- Bannayan-Riley-Ruvalcaba syndrome ORPHA:109
- Cronkhite-Canada syndrome ORPHA:2930
- Hereditary neuroendocrine tumor of small intestine ORPHA:456333
- Multiple endocrine neoplasia type 1 ORPHA:652
- Hereditary nonpolyposis colon cancer ORPHA:443909
- Combined immunodeficiency due to OX40 deficiency ORPHA:431149
- Progeroid features-hepatocellular carcinoma predisposition syndrome ORPHA:435953
- DICER1 tumor-predisposition syndrome ORPHA:284343
- Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome ORPHA:568056
- Palmoplantar keratoderma-esophageal carcinoma syndrome ORPHA:2198
- Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome ORPHA:447961
- MBD4-related tumor predisposition syndrome ORPHA:661526
- Inherited cancer-predisposing lymphoproliferative syndrome ORPHA:664450
- Combined immunodeficiency due to CARMIL2 deficiency ORPHA:542301
- X-linked lymphoproliferative disease due to SAP deficiency ORPHA:538931
- Familial hemophagocytic lymphohistiocytosis ORPHA:540
- Autoimmune polyendocrinopathy type 1 ORPHA:3453
- Autoimmune lymphoproliferative syndrome ORPHA:3261
- RAS-associated autoimmune leukoproliferative disease ORPHA:268114
- FADD-related immunodeficiency ORPHA:306550
- STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome ORPHA:391487
- Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency ORPHA:619948
- Combined immunodeficiency due to CD27 deficiency ORPHA:238505
- Dianzani autoimmune lymphoproliferative disease ORPHA:275523
- Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency ORPHA:436159
- STAT3-related early-onset multisystem autoimmune disease ORPHA:438159
- Combined immunodeficiency due to CD70 deficiency ORPHA:538958
- Combined immunodeficiency due to ITK deficiency ORPHA:538963
- EBV-induced lymphoproliferative disease due to PRKCD deficiency ORPHA:664711
- EBV-induced lymphoproliferative disease due to RASGRP1 deficiency ORPHA:664699
- EBV-induced lymphoproliferative disease due to CD137 deficiency ORPHA:664726
- EBV-induced lymphoproliferative disease due to TET2 deficiency ORPHA:664729
- Severe combined immunodeficiency due to CTPS1 deficiency ORPHA:420573
- XMEN ORPHA:317476
- RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome ORPHA:692812
- Neurofibromatosis/schwannomatosis ORPHA:634518
- Full schwannomatosis ORPHA:93921
- Mosaic neurofibromatosis type 1 ORPHA:634461
- Mosaic NF2-related schwannomatosis ORPHA:634475
- Mosaic schwannomatosis ORPHA:634492
- Neurofibromatosis type 1 ORPHA:636
- 17q11 microdeletion syndrome ORPHA:97685
- Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion ORPHA:363700
- Full NF2-related schwannomatosis ORPHA:637
- Inherited gynecological cancer-predisposing syndrome ORPHA:589746
- Hereditary nonpolyposis colon cancer ORPHA:443909
- Peutz-Jeghers syndrome ORPHA:2869
- Hereditary leiomyomatosis and renal cell cancer ORPHA:523
- Cowden syndrome ORPHA:201
- Inherited hematologic cancer-predisposing syndrome ORPHA:619340
- Noonan syndrome ORPHA:648
- Noonan syndrome with multiple lentigines ORPHA:500
- Familial platelet disorder with associated myeloid malignancy ORPHA:71290
- Inherited acute myeloid leukemia ORPHA:319465
- B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality ORPHA:585877
- B-lymphoblastic leukemia/lymphoma with t(17;19) ORPHA:641375
- B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) ORPHA:585909
- B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) ORPHA:585918
- B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) ORPHA:585929
- B-lymphoblastic leukemia/lymphoma with hyperdiploidy ORPHA:585936
- B-lymphoblastic leukemia/lymphoma with hypodiploidy ORPHA:585942
- B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) ORPHA:585948
- B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) ORPHA:585956
- B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) ORPHA:641372
- Li-Fraumeni syndrome ORPHA:524
- DDX41-related hematologic malignancy predisposition syndrome ORPHA:488647
- Rare genetic hepatic disease ORPHA:156601
- Transient familial neonatal hyperbilirubinemia ORPHA:2312
- Hepatic veno-occlusive disease-immunodeficiency syndrome ORPHA:79124
- Rare metabolic liver disease ORPHA:101940
- Acid sphingomyelinase deficiency ORPHA:618899
- Infantile neurovisceral acid sphingomyelinase deficiency ORPHA:77292
- Chronic visceral acid sphingomyelinase deficiency ORPHA:77293
- Chronic neurovisceral acid sphingomyelinase deficiency ORPHA:618891
- Glycogen storage disease due to glycogen debranching enzyme deficiency ORPHA:366
- Classic galactosemia ORPHA:79239
- Ferro-cerebro-cutaneous syndrome ORPHA:397922
- Glycogen storage disease due to glycogen branching enzyme deficiency ORPHA:367
- Adult polyglucosan body disease ORPHA:206583
- Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form ORPHA:308621
- Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form ORPHA:308638
- Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form ORPHA:308655
- Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form ORPHA:308670
- Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form ORPHA:308684
- Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form ORPHA:308698
- Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form ORPHA:308712
- Glycogen storage disease due to liver glycogen phosphorylase deficiency ORPHA:369
- Wilson disease ORPHA:905
- Alpha-1-antitrypsin deficiency ORPHA:60
- Crigler-Najjar syndrome ORPHA:205
- Galactose epimerase deficiency ORPHA:79238
- Erythrocyte galactose epimerase deficiency ORPHA:308473
- Generalized galactose epimerase deficiency ORPHA:308487
- Neonatal hemochromatosis ORPHA:446
- Hereditary fructose intolerance ORPHA:469
- Glycogen storage disease due to glucose-6-phosphatase deficiency ORPHA:364
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia ORPHA:79258
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib ORPHA:79259
- Dubin-Johnson syndrome ORPHA:234
- Rotor syndrome ORPHA:3111
- Steroid dehydrogenase deficiency-dental anomalies syndrome ORPHA:3196
- Tyrosinemia type 1 ORPHA:882
- Fanconi-Bickel syndrome ORPHA:2088
- Peroxisome biogenesis disorder ORPHA:79189
- Zellweger syndrome ORPHA:912
- Neonatal adrenoleukodystrophy ORPHA:44
- Infantile Refsum disease ORPHA:772
- Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency ORPHA:79240
- Mitochondrial DNA depletion syndrome, hepatocerebral form ORPHA:254871
- Infantile-onset spinocerebellar ataxia ORPHA:1186
- Alpers-Huttenlocher syndrome ORPHA:726
- Navajo neurohepatopathy ORPHA:255229
- Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency ORPHA:279934
- Mitochondrial DNA depletion syndrome, hepatocerebrorenal form ORPHA:363534
- Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ORPHA:137681
- Dietary iron overload disease ORPHA:139507
- Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins ORPHA:217371
- Rare hereditary hemochromatosis ORPHA:220489
- Symptomatic form of HFE-related hemochromatosis ORPHA:465508
- Non-HFE-related hemochromatosis ORPHA:648569
- TFR2-related hemochromatosis ORPHA:225123
- SLC40A1-related hemochromatosis ORPHA:647834
- HJV or HAMP-related hemochromatosis ORPHA:79230
- Digenic hemochromatosis ORPHA:648581
- FTH1-related iron overload ORPHA:247790
- Glycogen storage disease due to liver phosphorylase kinase deficiency ORPHA:264580
- Familial intrahepatic cholestasis ORPHA:284385
- Progressive familial intrahepatic cholestasis ORPHA:172
- Progressive familial intrahepatic cholestasis type 2 ORPHA:79304
- Progressive familial intrahepatic cholestasis type 3 ORPHA:79305
- Progressive familial intrahepatic cholestasis type 1 ORPHA:79306
- Progressive familial intrahepatic cholestasis type 4 ORPHA:480483
- MYO5B-related progressive familial intrahepatic cholestasis ORPHA:480491
- Progressive familial intrahepatic cholestasis type 5 ORPHA:480476
- Hereditary North American Indian childhood cirrhosis ORPHA:168583
- Benign recurrent intrahepatic cholestasis ORPHA:65682
- Benign recurrent intrahepatic cholestasis type 1 ORPHA:99960
- Benign recurrent intrahepatic cholestasis type 2 ORPHA:99961
- Bile acid synthesis defect with cholestasis and malabsorption ORPHA:163631
- Cerebrotendinous xanthomatosis ORPHA:909
- Congenital bile acid synthesis defect ORPHA:485631
- Congenital bile acid synthesis defect type 4 ORPHA:79095
- Congenital bile acid synthesis defect type 1 ORPHA:79301
- Congenital bile acid synthesis defect type 3 ORPHA:79302
- Congenital bile acid synthesis defect type 2 ORPHA:79303
- Familial hypercholanemia ORPHA:238475
- Bile acid CoA ligase deficiency and defective amidation ORPHA:276066
- Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome ORPHA:309854
- CADDS ORPHA:369942
- Congenital disorder of glycosylation with hepatic involvement ORPHA:371157
- PMM2-CDG ORPHA:79318
- MPI-CDG ORPHA:79319
- ALG8-CDG ORPHA:79325
- ALG2-CDG ORPHA:79326
- ALG9-CDG ORPHA:79328
- MOGS-CDG ORPHA:79330
- B4GALT1-CDG ORPHA:79332
- RFT1-CDG ORPHA:244310
- COG4-CDG ORPHA:263501
- DDOST-CDG ORPHA:300536
- TMEM165-CDG ORPHA:314667
- PGM1-CDG ORPHA:319646
- ALG13-CDG ORPHA:324422
- Congenital muscular dystrophy with intellectual disability and severe epilepsy ORPHA:329178
- ATP6AP1-CDG ORPHA:692790
- Ferroportin disease ORPHA:648562
- Hepatic porphyria ORPHA:659694
- Acute hepatic porphyria ORPHA:95157
- Hereditary coproporphyria ORPHA:79273
- Acute intermittent porphyria ORPHA:79276
- Variegate porphyria ORPHA:79473
- Porphyria due to ALA dehydratase deficiency ORPHA:100924
- Hepatic cutaneous porphyria ORPHA:659698
- GRACILE syndrome ORPHA:53693
- Renal tubulopathy-encephalopathy-liver failure syndrome ORPHA:254902
- Wolman disease ORPHA:75233
- Cholesteryl ester storage disease ORPHA:75234
- Citrullinemia type II ORPHA:247585
- Genetic parenchymatous liver disease ORPHA:156604
- Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins ORPHA:217371
- Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ORPHA:440427
- Joubert syndrome with hepatic defect ORPHA:1454
- NPHP3-related Meckel-like syndrome ORPHA:3032
- Renal-hepatic-pancreatic dysplasia ORPHA:294415
- Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome ORPHA:466794
- Fever-associated acute infantile liver failure syndrome ORPHA:464724
- Hepatic fibrosis-renal cysts-intellectual disability syndrome ORPHA:2031
- Syndromic diarrhea ORPHA:84064
- Transient infantile hypertriglyceridemia and hepatosteatosis ORPHA:300293
- Acute infantile liver failure-multisystemic involvement syndrome ORPHA:370088
- Growth retardation-mild developmental delay-chronic hepatitis syndrome ORPHA:391366
- Ferro-cerebro-cutaneous syndrome ORPHA:397922
- Autosomal recessive polycystic kidney disease ORPHA:731
- Growth delay-intellectual disability-hepatopathy syndrome ORPHA:541423
- Genetic biliary tract disease ORPHA:156607
- Arthrogryposis-renal dysfunction-cholestasis syndrome ORPHA:2697
- Isolated polycystic liver disease ORPHA:2924
- Alagille syndrome ORPHA:52
- Alagille syndrome due to 20p12 microdeletion ORPHA:261600
- Alagille syndrome due to a JAG1 point mutation ORPHA:261619
- Alagille syndrome due to a NOTCH2 point mutation ORPHA:261629
- Neonatal ichthyosis-sclerosing cholangitis syndrome ORPHA:59303
- Low phospholipid-associated cholelithiasis ORPHA:69663
- Caroli disease ORPHA:53035
- Caroli syndrome ORPHA:480520
- Isolated neonatal sclerosing cholangitis ORPHA:480556
- Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome ORPHA:521432
- Cystic fibrosis ORPHA:586
- Hyperbiliverdinemia ORPHA:276405
- Cholestasis-lymphedema syndrome ORPHA:1414
- Rare genetic respiratory disease ORPHA:156610
- RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome ORPHA:692812
- Cystic fibrosis ORPHA:586
- Alpha-1-antitrypsin deficiency ORPHA:60
- Familial spontaneous pneumothorax ORPHA:2903
- Primary ciliary dyskinesia ORPHA:244
- Young syndrome ORPHA:3471
- Siegler-Brewer-Carey syndrome ORPHA:3167
- Lymphangioleiomyomatosis ORPHA:538
- Idiopathic/heritable pulmonary arterial hypertension ORPHA:422
- Idiopathic pulmonary arterial hypertension ORPHA:275766
- Heritable pulmonary arterial hypertension ORPHA:275777
- Pulmonary alveolar microlithiasis ORPHA:60025
- Idiopathic bronchiectasis ORPHA:60033
- Sudden infant death-dysgenesis of the testes syndrome ORPHA:168593
- Genetic respiratory malformation ORPHA:183622
- Congenital lobar emphysema ORPHA:1928
- Lung agenesis-heart defect-thumb anomalies syndrome ORPHA:1120
- Primary pulmonary hypoplasia ORPHA:2257
- Laryngo-onycho-cutaneous syndrome ORPHA:2407
- Matthew-Wood syndrome ORPHA:2470
- Growth delay-hydrocephaly-lung hypoplasia syndrome ORPHA:3035
- Thoracolaryngopelvic dysplasia ORPHA:3317
- Hereditary hemorrhagic telangiectasia ORPHA:774
- Syndromic multisystem autoimmune disease due to Itch deficiency ORPHA:228426
- Primary ciliary dyskinesia-retinitis pigmentosa syndrome ORPHA:247522
- Genetic interstitial lung disease ORPHA:264992
- Fibrosis-neurodegeneration-cerebral angiomatosis syndrome ORPHA:621758
- Congenital pulmonary lymphangiectasia ORPHA:2414
- Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies ORPHA:100049
- Brain-lung-thyroid syndrome ORPHA:209905
- Neonatal acute respiratory distress syndrome ORPHA:217563
- Hereditary pulmonary alveolar proteinosis ORPHA:264675
- Interstitial lung disease due to ABCA3 deficiency ORPHA:440402
- Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ORPHA:440427
- Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia ORPHA:572428
- Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome ORPHA:137631
- Congenital alveolar capillary dysplasia ORPHA:210122
- Chronic respiratory distress with surfactant metabolism deficiency ORPHA:217566
- Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome ORPHA:221043
- Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome ORPHA:306504
- 16q24.1 microdeletion syndrome ORPHA:352629
- Interstitial lung disease due to SP-C deficiency ORPHA:440392
- Autoimmune interstitial lung disease-arthritis syndrome ORPHA:444092
- Acid sphingomyelinase deficiency ORPHA:618899
- Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis ORPHA:431353
- STING-associated vasculopathy with onset in infancy ORPHA:425120
- Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome ORPHA:293987
- Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders ORPHA:505248
- Birt-Hogg-Dubé syndrome ORPHA:122
- Haddad syndrome ORPHA:99803
- Congenital central hypoventilation syndrome ORPHA:661
- Rare genetic urogenital disease ORPHA:156619
- Familial prostate cancer ORPHA:1331
- Genetic urogenital tract malformation ORPHA:156622
- Congenital bilateral absence of vas deferens ORPHA:48
- Müllerian aplasia ORPHA:73217
- Partial bilateral aplasia of the Müllerian ducts ORPHA:180068
- Mayer-Rokitansky-Küster-Hauser syndrome ORPHA:3109
- Mayer-Rokitansky-Küster-Hauser syndrome type 2 ORPHA:2578
- Mayer-Rokitansky-Küster-Hauser syndrome type 1 ORPHA:247775
- Müllerian aplasia and hyperandrogenism ORPHA:247768
- Unilateral aplasia of the Müllerian ducts ORPHA:180071
- Syndromic urogenital tract malformation ORPHA:165707
- Turner syndrome ORPHA:881
- Monosomy X syndrome ORPHA:99226
- Mosaic monosomy X syndrome ORPHA:99228
- Turner syndrome due to structural X chromosome anomalies ORPHA:99413
- CHARGE syndrome ORPHA:138
- Aarskog-Scott syndrome ORPHA:915
- Lethal hemolytic anemia-genital anomalies syndrome ORPHA:1046
- Caudal regression-sirenomelia spectrum ORPHA:444941
- 48,XXYY syndrome ORPHA:10
- Spina bifida-hypospadias syndrome ORPHA:3176
- Abruzzo-Erickson syndrome ORPHA:921
- Branchioskeletogenital syndrome ORPHA:1299
- Autosomal recessive faciodigitogenital syndrome ORPHA:1974
- Hypertelorism-hypospadias-polysyndactyly syndrome ORPHA:2211
- Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome ORPHA:2252
- Hypospadias-intellectual disability, Goldblatt type syndrome ORPHA:2261
- Schilbach-Rott syndrome ORPHA:2353
- Czeizel-Losonci syndrome ORPHA:2437
- Lower limb malformation-hypospadias syndrome ORPHA:2487
- Müllerian duct anomalies-limb anomalies syndrome ORPHA:2491
- Nephrosis-deafness-urinary tract-digital malformations syndrome ORPHA:2669
- Guttmacher syndrome ORPHA:2957
- Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome ORPHA:3224
- Torticollis-keloids-cryptorchidism-renal dysplasia syndrome ORPHA:3341
- Opitz GBBB syndrome ORPHA:2745
- Double uterus-hemivagina-renal agenesis syndrome ORPHA:3411
- IMAGe syndrome ORPHA:85173
- Müllerian derivatives-lymphangiectasia-polydactyly syndrome ORPHA:1655
- 48,XXXY syndrome ORPHA:96263
- 49,XXXXY syndrome ORPHA:96264
- 48,XYYY syndrome ORPHA:99329
- 8p23.1 microdeletion syndrome ORPHA:251071
- ARX-related encephalopathy-brain malformation spectrum ORPHA:423655
- Corpus callosum agenesis-abnormal genitalia syndrome ORPHA:2508
- X-linked lissencephaly with abnormal genitalia ORPHA:452
- Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome ORPHA:439897
- Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome ORPHA:500135
- Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome ORPHA:495875
- B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome ORPHA:567502
- Neurooculocardiogenitourinary syndrome ORPHA:684305
- KAT6B-related multiple congenital anomalies syndrome ORPHA:597749
- Blepharophimosis-intellectual disability syndrome, SBBYS type ORPHA:3047
- Genitopatellar syndrome ORPHA:85201
- Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome ORPHA:597746
- SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome ORPHA:597743
- Familial vesicoureteral reflux ORPHA:289365
- Non-syndromic posterior hypospadias ORPHA:95706
- Genetic difference of sex development ORPHA:325690
- Sex chromosome difference of sex development ORPHA:325546
- Turner syndrome ORPHA:881
- Monosomy X syndrome ORPHA:99226
- Mosaic monosomy X syndrome ORPHA:99228
- Turner syndrome due to structural X chromosome anomalies ORPHA:99413
- 48,XXYY syndrome ORPHA:10
- 45,X/46,XY mixed gonadal dysgenesis ORPHA:1772
- 48,XXXY syndrome ORPHA:96263
- 49,XXXXY syndrome ORPHA:96264
- Tetragametic chimerism syndrome ORPHA:199310
- Genetic 46,XX difference of sex development ORPHA:325697
- 46,XX difference of sex development induced by fetal androgens excess ORPHA:90776
- Generalized glucocorticoid resistance syndrome ORPHA:786
- Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency ORPHA:90791
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ORPHA:90794
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form ORPHA:315306
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form ORPHA:315311
- Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency ORPHA:90795
- Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency ORPHA:95699
- Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis ORPHA:63269
- 46,XX disorder of gonadal development ORPHA:325055
- 46,XX gonadal dysgenesis ORPHA:243
- 46,XX ovotesticular difference of sex development ORPHA:2138
- 46,XX testicular difference of sex development ORPHA:393
- 46,XX ovarian dysgenesis-short stature syndrome ORPHA:444048
- 46,XX difference of sex development induced by fetoplacental androgens excess ORPHA:325061
- Syndrome with 46,XX difference of sex development ORPHA:325109
- PAGOD syndrome ORPHA:991
- Perrault syndrome ORPHA:2855
- 46,XX difference of sex development-anorectal anomalies syndrome ORPHA:2973
- 46,XX difference of sex development-skeletal anomalies syndrome ORPHA:2975
- Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome ORPHA:85112
- Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome ORPHA:137631
- SERKAL syndrome ORPHA:139466
- Müllerian aplasia and hyperandrogenism ORPHA:247768
- Genetic 46,XY difference of sex development ORPHA:325706
- Syndrome with 46,XY difference of sex development ORPHA:98087
- WAGR syndrome ORPHA:893
- Distal deletion 9p syndrome ORPHA:1642
- XY type gonadal dysgenesis-associated anomalies syndrome ORPHA:1770
- Difference of sex development-intellectual disability syndrome ORPHA:2983
- Chondrodysplasia-difference of sex development syndrome ORPHA:1422
- X-linked alpha-thalassemia-intellectual disability syndrome ORPHA:847
- Campomelic dysplasia ORPHA:140
- PAGOD syndrome ORPHA:991
- Dysmorphism-short stature-deafness-difference of sex development syndrome ORPHA:2282
- Meacham syndrome ORPHA:3097
- Denys-Drash syndrome ORPHA:220
- Frasier syndrome ORPHA:347
- X-linked lissencephaly with abnormal genitalia ORPHA:452
- Familial adrenal hypoplasia with absent pituitary luteinizing hormone ORPHA:95700
- 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome ORPHA:168563
- Sudden infant death-dysgenesis of the testes syndrome ORPHA:168593
- X-linked myotubular myopathy-abnormal genitalia syndrome ORPHA:456328
- MIRAGE syndrome ORPHA:494433
- Genitopalatocardiac syndrome ORPHA:2075
- 46,XY disorder of gonadal development ORPHA:325118
- 46,XY complete gonadal dysgenesis ORPHA:242
- Testicular regression syndrome ORPHA:983
- 46,XY partial gonadal dysgenesis ORPHA:251510
- Testicular agenesis ORPHA:325124
- 46,XY ovotesticular difference of sex development ORPHA:325345
- Genetic 46,XY difference of sex development of endocrine origin ORPHA:325713
- Androgen insensitivity syndrome ORPHA:754
- Partial androgen insensitivity syndrome ORPHA:90797
- Complete androgen insensitivity syndrome ORPHA:99429
- 46,XY difference of sex development due to impaired androgen production ORPHA:325357
- Leydig cell hypoplasia ORPHA:755
- Leydig cell hypoplasia due to complete LH resistance ORPHA:96265
- Leydig cell hypoplasia due to partial LH resistance ORPHA:96266
- Leydig cell hypoplasia due to LHB deficiency ORPHA:325448
- 46,XY difference of sex development due to a testosterone synthesis defect ORPHA:90783
- 46,XY difference of sex development due to adrenal and testicular steroidogenesis defect ORPHA:90786
- Congenital lipoid adrenal hyperplasia due to STAR deficency ORPHA:90790
- Classic congenital lipoid adrenal hyperplasia due to STAR deficency ORPHA:325524
- Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency ORPHA:325529
- Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency ORPHA:90791
- Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency ORPHA:90793
- Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency ORPHA:95699
- 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency ORPHA:168558
- Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis ORPHA:63269
- 46,XY difference of sex development due to testicular steroidogenesis defect ORPHA:90787
- 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency ORPHA:752
- 46,XY difference of sex development due to isolated 17,20-lyase deficiency ORPHA:90796
- 46,XY difference of sex development due to a cholesterol synthesis defect ORPHA:325511
- 46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue ORPHA:98086
- 46,XY difference of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect ORPHA:443090
- Multisystemic smooth muscle dysfunction syndrome ORPHA:404463
- Rare genetic endocrine disease ORPHA:156638
- Rare genetic premature ovarian failure ORPHA:485382
- Turner syndrome ORPHA:881
- Monosomy X syndrome ORPHA:99226
- Mosaic monosomy X syndrome ORPHA:99228
- Turner syndrome due to structural X chromosome anomalies ORPHA:99413
- Ataxia-telangiectasia ORPHA:100
- Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 ORPHA:572354
- Tetrasomy X syndrome ORPHA:9
- 46,XX gonadal dysgenesis ORPHA:243
- Trisomy X syndrome ORPHA:3375
- Perrault syndrome ORPHA:2855
- Aromatase deficiency ORPHA:91
- Osteosclerosis-ichthyosis-premature ovarian failure syndrome ORPHA:75325
- Classic galactosemia ORPHA:79239
- Congenital lipoid adrenal hyperplasia due to STAR deficency ORPHA:90790
- Classic congenital lipoid adrenal hyperplasia due to STAR deficency ORPHA:325524
- Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency ORPHA:325529
- Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency ORPHA:90793
- X small rings syndrome ORPHA:96201
- Microcephalic primordial dwarfism-insulin resistance syndrome ORPHA:436182
- 46,XX ovarian dysgenesis-short stature syndrome ORPHA:444048
- Fragile X-associated primary ovarian insufficiency ORPHA:642691
- Estrogen resistance syndrome ORPHA:785
- Genetic obesity ORPHA:77828
- Genetic non-syndromic obesity ORPHA:98267
- Obesity due to congenital leptin deficiency ORPHA:66628
- Obesity due to congenital leptin resistance ORPHA:179490
- Obesity due to pro-opiomelanocortin deficiency ORPHA:71526
- Obesity due to prohormone convertase I deficiency ORPHA:71528
- Obesity due to melanocortin 4 receptor deficiency ORPHA:71529
- Obesity due to leptin receptor gene deficiency ORPHA:179494
- Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency ORPHA:329249
- Obesity due to SIM1 deficiency ORPHA:369873
- Obesity due to CEP19 deficiency ORPHA:397615
- Syndromic obesity ORPHA:240371
- Smith-Magenis syndrome ORPHA:819
- Fragile X syndrome ORPHA:908
- Prader-Willi syndrome ORPHA:739
- Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 ORPHA:98754
- Prader-Willi syndrome due to paternal 15q11q13 deletion ORPHA:98793
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 ORPHA:177901
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 ORPHA:177904
- Prader-Willi syndrome due to translocation ORPHA:177907
- Prader-Willi syndrome due to imprinting mutation ORPHA:177910
- Rubinstein-Taybi syndrome ORPHA:783
- Rubinstein-Taybi syndrome due to CREBBP mutations ORPHA:353277
- Rubinstein-Taybi syndrome due to 16p13.3 microdeletion ORPHA:353281
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ORPHA:353284
- WAGR syndrome ORPHA:893
- Coffin-Lowry syndrome ORPHA:192
- Cohen syndrome ORPHA:193
- Symptomatic form of Coffin-Lowry syndrome in female carriers ORPHA:276630
- Pseudohypoparathyroidism with Albright hereditary osteodystrophy ORPHA:457059
- Pseudohypoparathyroidism type 1A ORPHA:79443
- Pseudohypoparathyroidism type 1C ORPHA:79444
- Pseudopseudohypoparathyroidism ORPHA:79445
- Alström syndrome ORPHA:64
- Borjeson-Forssman-Lehmann syndrome ORPHA:127
- Xq21 microdeletion syndrome ORPHA:1435
- MOMO syndrome ORPHA:2563
- Wilson-Turner syndrome ORPHA:3459
- Hydrocephalus-obesity-hypogonadism syndrome ORPHA:2183
- Bardet-Biedl syndrome ORPHA:110
- Microcephalic osteodysplastic primordial dwarfism type II ORPHA:2637
- Carpenter syndrome ORPHA:65759
- MORM syndrome ORPHA:75858
- MEHMO syndrome ORPHA:85282
- Distal 16p11.2 microdeletion syndrome ORPHA:261222
- Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome ORPHA:293987
- Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome ORPHA:352530
- Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome ORPHA:363741
- Intellectual disability-seizures-macrocephaly-obesity syndrome ORPHA:369950
- Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome ORPHA:397973
- Prader-Willi-like syndrome ORPHA:398073
- CPE-related Prader-Willi-like syndrome ORPHA:633028
- 6q16 microdeletion syndrome ORPHA:171829
- SIM1-related Prader-Willi-like syndrome ORPHA:398079
- Schaaf-Yang syndrome ORPHA:398069
- Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome ORPHA:444077
- Early-onset obesity-hyperphagia-severe developmental delay syndrome ORPHA:99704
- Temple syndrome ORPHA:254516
- Temple syndrome due to maternal uniparental disomy of chromosome 14 ORPHA:96184
- Temple syndrome due to paternal 14q32.2 microdeletion ORPHA:254525
- Temple syndrome due to paternal 14q32.2 hypomethylation ORPHA:254531
- Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome ORPHA:521390
- PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome ORPHA:589905
- Short stature-brachydactyly-obesity-global developmental delay syndrome ORPHA:464288
- Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome ORPHA:652487
- Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome ORPHA:620363
- Clark-Baraitser syndrome ORPHA:600731
- MYT1L-related developmental delay-intellectual disability-obesity syndrome ORPHA:647799
- Genetic lipodystrophy ORPHA:98305
- Proteasome-associated autoinflammatory syndrome ORPHA:324977
- Congenital generalized lipodystrophy ORPHA:528
- Lipodystrophy due to peptidic growth factors deficiency ORPHA:1979
- Mandibuloacral dysplasia ORPHA:2457
- Mandibuloacral dysplasia with type A lipodystrophy ORPHA:90153
- Mandibuloacral dysplasia with type B lipodystrophy ORPHA:90154
- SHORT syndrome ORPHA:3163
- Wiedemann-Rautenstrauch syndrome ORPHA:3455
- Lipodystrophy-intellectual disability-deafness syndrome ORPHA:50811
- Familial partial lipodystrophy ORPHA:98306
- Familial partial lipodystrophy, Dunnigan type ORPHA:2348
- PPARG-related familial partial lipodystrophy ORPHA:79083
- Familial partial lipodystrophy, Köbberling type ORPHA:79084
- AKT2-related familial partial lipodystrophy ORPHA:79085
- PLIN1-related familial partial lipodystrophy ORPHA:280356
- Autosomal semi-dominant severe lipodystrophic laminopathy ORPHA:280365
- CIDEC-related familial partial lipodystrophy ORPHA:435651
- LIPE-related familial partial lipodystrophy ORPHA:435660
- Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome ORPHA:363400
- Keppen-Lubinsky syndrome ORPHA:435628
- Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome ORPHA:686999
- Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome ORPHA:363649
- Nestor-Guillermo progeria syndrome ORPHA:280576
- Rare dyslipidemia ORPHA:101953
- Rare hyperlipidemia ORPHA:181422
- Dysbetalipoproteinemia ORPHA:412
- Familial Hyperalphalipoproteinemia ORPHA:181428
- Familial chylomicronemia syndrome ORPHA:444490
- Familial lipoprotein lipase deficiency ORPHA:309015
- Familial apolipoprotein C-II deficiency ORPHA:309020
- Familial lipase maturation factor 1 deficiency ORPHA:535453
- Familial GPIHBP1 deficiency ORPHA:535458
- Familial apolipoprotein A5 deficiency ORPHA:530849
- Hyperlipidemia due to hepatic triacylglycerol lipase deficiency ORPHA:140905
- Rare hypercholesterolemia ORPHA:477811
- Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency ORPHA:209902
- Homozygous familial hypercholesterolemia ORPHA:391665
- TMEM199-CDG ORPHA:466703
- CCDC115-CDG ORPHA:468684
- Chronic visceral acid sphingomyelinase deficiency ORPHA:77293
- Chronic neurovisceral acid sphingomyelinase deficiency ORPHA:618891
- Rare hypolipidemia ORPHA:181431
- Hypoalphalipoproteinemia ORPHA:31153
- Hypobetalipoproteinemia ORPHA:31154
- Rare syndromic dyslipidemia ORPHA:181437
- Genetic endocrine growth disease ORPHA:156643
- Congenital adrenal hyperplasia ORPHA:418
- Congenital lipoid adrenal hyperplasia due to STAR deficency ORPHA:90790
- Classic congenital lipoid adrenal hyperplasia due to STAR deficency ORPHA:325524
- Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency ORPHA:325529
- Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency ORPHA:90791
- Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency ORPHA:90793
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ORPHA:90794
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form ORPHA:315306
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form ORPHA:315311
- Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency ORPHA:90795
- Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency ORPHA:95699
- Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis ORPHA:63269
- Craniopharyngioma ORPHA:54595
- Non-acquired pituitary hormone deficiency ORPHA:95488
- Non-acquired isolated growth hormone deficiency ORPHA:631
- Short stature due to growth hormone qualitative anomaly ORPHA:629
- Isolated growth hormone deficiency type IA ORPHA:231662
- Isolated growth hormone deficiency type IB ORPHA:231671
- Isolated growth hormone deficiency type II ORPHA:231679
- Isolated growth hormone deficiency type III ORPHA:231692
- Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia ORPHA:632
- X-linked intellectual disability with isolated growth hormone deficiency ORPHA:67045
- Isolated growth hormone deficiency type IV ORPHA:684247
- Non-acquired combined pituitary hormone deficiency ORPHA:467
- Disease associated with non-acquired combined pituitary hormone deficiency ORPHA:95495
- Holoprosencephaly ORPHA:2162
- Lobar holoprosencephaly ORPHA:93924
- Alobar holoprosencephaly ORPHA:93925
- Midline interhemispheric variant of holoprosencephaly ORPHA:93926
- Semilobar holoprosencephaly ORPHA:220386
- Septopreoptic holoprosencephaly ORPHA:280195
- Pallister-Hall syndrome ORPHA:672
- Johanson-Blizzard syndrome ORPHA:2315
- Septo-optic dysplasia spectrum ORPHA:3157
- Axenfeld-Rieger syndrome ORPHA:782
- Anophthalmia/microphthalmia-esophageal atresia syndrome ORPHA:77298
- Short stature-pituitary and cerebellar defects-small sella turcica syndrome ORPHA:85442
- ANE syndrome ORPHA:157954
- Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome ORPHA:231720
- Deficiency in anterior pituitary function-variable immunodeficiency syndrome ORPHA:293978
- Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ORPHA:420584
- Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations ORPHA:178025
- Isolated thyroid-stimulating hormone deficiency ORPHA:90674
- Pituitary stalk interruption syndrome ORPHA:95496
- Congenital hypogonadotropic hypogonadism ORPHA:174590
- Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism ORPHA:181387
- CHARGE syndrome ORPHA:138
- Prader-Willi syndrome ORPHA:739
- Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 ORPHA:98754
- Prader-Willi syndrome due to paternal 15q11q13 deletion ORPHA:98793
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 ORPHA:177901
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 ORPHA:177904
- Prader-Willi syndrome due to translocation ORPHA:177907
- Prader-Willi syndrome due to imprinting mutation ORPHA:177910
- Laurence-Moon syndrome ORPHA:2377
- Cerebellar ataxia-hypogonadism syndrome ORPHA:1173
- Ataxia-hypogonadism-choroidal dystrophy syndrome ORPHA:1180
- Cataract-intellectual disability-hypogonadism syndrome ORPHA:1387
- Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome ORPHA:2230
- Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome ORPHA:2235
- Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome ORPHA:2250
- Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome ORPHA:2560
- Woodhouse-Sakati syndrome ORPHA:3464
- Kallmann syndrome-heart disease syndrome ORPHA:2326
- Bardet-Biedl syndrome ORPHA:110
- Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome ORPHA:88637
- ANE syndrome ORPHA:157954
- Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome ORPHA:293967
- Prader-Willi-like syndrome ORPHA:398073
- CPE-related Prader-Willi-like syndrome ORPHA:633028
- 6q16 microdeletion syndrome ORPHA:171829
- SIM1-related Prader-Willi-like syndrome ORPHA:398079
- Schaaf-Yang syndrome ORPHA:398069
- Brachytelephalangy-dysmorphism-Kallmann syndrome ORPHA:1295
- Polyendocrine-polyneuropathy syndrome ORPHA:453533
- Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature ORPHA:181390
- Obesity due to congenital leptin deficiency ORPHA:66628
- Obesity due to prohormone convertase I deficiency ORPHA:71528
- Non-acquired panhypopituitarism ORPHA:90695
- Combined pituitary hormone deficiencies, genetic forms ORPHA:95494
- Familial adrenal hypoplasia with absent pituitary luteinizing hormone ORPHA:95700
- X-linked adrenal hypoplasia congenita ORPHA:95702
- Obesity due to leptin receptor gene deficiency ORPHA:179494
- Isolated congenital hypogonadotropic hypogonadism ORPHA:238666
- Isolated follicle stimulating hormone deficiency ORPHA:52901
- Congenital isolated ACTH deficiency ORPHA:199296
- Short stature due to GHSR deficiency ORPHA:314811
- Rare acquired premature ovarian failure ORPHA:95709
- Genetic precocious puberty ORPHA:435554
- Rare peripheral precocious puberty ORPHA:178040
- McCune-Albright syndrome ORPHA:562
- Familial peripheral male-limited precocious puberty ORPHA:3000
- Aromatase excess syndrome ORPHA:178345
- Genetic central precocious puberty ORPHA:650182
- Growth hormone insensitivity syndrome ORPHA:181393
- Laron syndrome ORPHA:633
- Growth delay due to insulin-like growth factor type 1 deficiency ORPHA:73272
- Growth delay due to insulin-like growth factor I resistance ORPHA:73273
- Short stature due to primary acid-labile subunit deficiency ORPHA:140941
- Laron syndrome with immunodeficiency ORPHA:220465
- Short stature due to partial GHR deficiency ORPHA:314802
- Permanent congenital hypothyroidism ORPHA:226292
- Syndromic hypothyroidism ORPHA:177107
- Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome ORPHA:597746
- Jung syndrome ORPHA:2321
- Pendred syndrome ORPHA:705
- Bamforth-Lazarus syndrome ORPHA:1226
- Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome ORPHA:1882
- Johanson-Blizzard syndrome ORPHA:2315
- Blepharophimosis-intellectual disability syndrome, SBBYS type ORPHA:3047
- Muscular pseudohypertrophy-hypothyroidism syndrome ORPHA:2349
- Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome ORPHA:88643
- Brain-lung-thyroid syndrome ORPHA:209905
- Polyendocrine-polyneuropathy syndrome ORPHA:453533
- Infantile multisystem neurologic-endocrine-pancreatic disease ORPHA:456312
- Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome ORPHA:589856
- Primary congenital hypothyroidism ORPHA:226295
- Congenital hypothyroidism due to developmental anomaly ORPHA:95711
- Thyroid ectopia ORPHA:95712
- Athyreosis ORPHA:95713
- Thyroid hemiagenesis ORPHA:95719
- Thyroid hypoplasia ORPHA:95720
- Primary congenital hypothyroidism without thyroid developmental anomaly ORPHA:95714
- Central congenital hypothyroidism ORPHA:226298
- Isolated thyroid-stimulating hormone deficiency ORPHA:90674
- Resistance to thyrotropin-releasing hormone syndrome ORPHA:99832
- Hypothyroidism due to deficient transcription factors involved in pituitary development or function ORPHA:226307
- Isolated thyrotropin-releasing hormone deficiency ORPHA:238670
- X-linked central congenital hypothyroidism with late-onset testicular enlargement ORPHA:329235
- Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome ORPHA:436174
- MIRAGE syndrome ORPHA:494433
- IMAGe syndrome ORPHA:85173
- Rare disorder with hypergonadotropic hypogonadism ORPHA:181441
- Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome ORPHA:3044
- Noonan syndrome ORPHA:648
- Hypogonadism-mitral valve prolapse-intellectual disability syndrome ORPHA:2233
- Proximal myotonic myopathy ORPHA:606
- X-linked adrenoleukodystrophy ORPHA:43
- Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome ORPHA:2229
- Primary hypergonadotropic hypogonadism-partial alopecia syndrome ORPHA:2232
- Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome ORPHA:2234
- Hypergonadotropic hypogonadism-cataract syndrome ORPHA:2410
- Mikati-Najjar-Sahli syndrome ORPHA:2558
- Woodhouse-Sakati syndrome ORPHA:3464
- Hydrocephalus-obesity-hypogonadism syndrome ORPHA:2183
- Deafness-hypogonadism syndrome ORPHA:90646
- X-linked intellectual disability, Cilliers type ORPHA:163971
- X-linked intellectual disability, Van Esch type ORPHA:163976
- Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome ORPHA:280679
- Rare genetic diabetes mellitus ORPHA:183625
- Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome ORPHA:391408
- Wolfram-like syndrome ORPHA:411590
- Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome ORPHA:445062
- Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome ORPHA:544628
- Wolfram syndrome ORPHA:3463
- Hereditary chronic pancreatitis ORPHA:676
- Alström syndrome ORPHA:64
- AREDYLD syndrome ORPHA:1133
- Wolcott-Rallison syndrome ORPHA:1667
- Pancreatic hypoplasia-diabetes-congenital heart disease syndrome ORPHA:2255
- Woodhouse-Sakati syndrome ORPHA:3464
- Myopathy and diabetes mellitus ORPHA:2596
- MODY ORPHA:552
- Neonatal diabetes mellitus ORPHA:224
- Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome ORPHA:65288
- DEND syndrome ORPHA:79134
- Isolated permanent neonatal diabetes mellitus ORPHA:99885
- Transient neonatal diabetes mellitus ORPHA:99886
- Intermediate DEND syndrome ORPHA:99989
- Thiamine-responsive megaloblastic anemia syndrome ORPHA:49827
- HNF1B-related autosomal dominant tubulointerstitial kidney disease ORPHA:93111
- H syndrome ORPHA:168569
- Rare insulin-resistance syndrome ORPHA:181368
- Donohue syndrome ORPHA:508
- Congenital generalized lipodystrophy ORPHA:528
- Insulin-resistance syndrome type A ORPHA:2297
- Rabson-Mendenhall syndrome ORPHA:769
- SHORT syndrome ORPHA:3163
- Insulin-resistance syndrome type B ORPHA:2298
- Short fifth metacarpals-insulin resistance syndrome ORPHA:66518
- Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome ORPHA:90301
- PLIN1-related familial partial lipodystrophy ORPHA:280356
- Autosomal semi-dominant severe lipodystrophic laminopathy ORPHA:280365
- Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome ORPHA:436144
- Microcephalic primordial dwarfism-insulin resistance syndrome ORPHA:436182
- Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome ORPHA:306558
- Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome ORPHA:3044
- Rare genetic hypothalamic or pituitary disease ORPHA:183628
- Pituitary deficiency ORPHA:101957
- Hereditary arginine vasopressin deficiency ORPHA:30925
- Non-acquired pituitary hormone deficiency ORPHA:95488
- Non-acquired isolated growth hormone deficiency ORPHA:631
- Short stature due to growth hormone qualitative anomaly ORPHA:629
- Isolated growth hormone deficiency type IA ORPHA:231662
- Isolated growth hormone deficiency type IB ORPHA:231671
- Isolated growth hormone deficiency type II ORPHA:231679
- Isolated growth hormone deficiency type III ORPHA:231692
- Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia ORPHA:632
- X-linked intellectual disability with isolated growth hormone deficiency ORPHA:67045
- Isolated growth hormone deficiency type IV ORPHA:684247
- Non-acquired combined pituitary hormone deficiency ORPHA:467
- Disease associated with non-acquired combined pituitary hormone deficiency ORPHA:95495
- Holoprosencephaly ORPHA:2162
- Lobar holoprosencephaly ORPHA:93924
- Alobar holoprosencephaly ORPHA:93925
- Midline interhemispheric variant of holoprosencephaly ORPHA:93926
- Semilobar holoprosencephaly ORPHA:220386
- Septopreoptic holoprosencephaly ORPHA:280195
- Pallister-Hall syndrome ORPHA:672
- Johanson-Blizzard syndrome ORPHA:2315
- Septo-optic dysplasia spectrum ORPHA:3157
- Axenfeld-Rieger syndrome ORPHA:782
- Anophthalmia/microphthalmia-esophageal atresia syndrome ORPHA:77298
- Short stature-pituitary and cerebellar defects-small sella turcica syndrome ORPHA:85442
- ANE syndrome ORPHA:157954
- Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome ORPHA:231720
- Deficiency in anterior pituitary function-variable immunodeficiency syndrome ORPHA:293978
- Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ORPHA:420584
- Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations ORPHA:178025
- Isolated thyroid-stimulating hormone deficiency ORPHA:90674
- Pituitary stalk interruption syndrome ORPHA:95496
- Congenital hypogonadotropic hypogonadism ORPHA:174590
- Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism ORPHA:181387
- CHARGE syndrome ORPHA:138
- Prader-Willi syndrome ORPHA:739
- Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 ORPHA:98754
- Prader-Willi syndrome due to paternal 15q11q13 deletion ORPHA:98793
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 ORPHA:177901
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 ORPHA:177904
- Prader-Willi syndrome due to translocation ORPHA:177907
- Prader-Willi syndrome due to imprinting mutation ORPHA:177910
- Laurence-Moon syndrome ORPHA:2377
- Cerebellar ataxia-hypogonadism syndrome ORPHA:1173
- Ataxia-hypogonadism-choroidal dystrophy syndrome ORPHA:1180
- Cataract-intellectual disability-hypogonadism syndrome ORPHA:1387
- Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome ORPHA:2230
- Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome ORPHA:2235
- Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome ORPHA:2250
- Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome ORPHA:2560
- Woodhouse-Sakati syndrome ORPHA:3464
- Kallmann syndrome-heart disease syndrome ORPHA:2326
- Bardet-Biedl syndrome ORPHA:110
- Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome ORPHA:88637
- ANE syndrome ORPHA:157954
- Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome ORPHA:293967
- Prader-Willi-like syndrome ORPHA:398073
- CPE-related Prader-Willi-like syndrome ORPHA:633028
- 6q16 microdeletion syndrome ORPHA:171829
- SIM1-related Prader-Willi-like syndrome ORPHA:398079
- Schaaf-Yang syndrome ORPHA:398069
- Brachytelephalangy-dysmorphism-Kallmann syndrome ORPHA:1295
- Polyendocrine-polyneuropathy syndrome ORPHA:453533
- Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature ORPHA:181390
- Obesity due to congenital leptin deficiency ORPHA:66628
- Obesity due to prohormone convertase I deficiency ORPHA:71528
- Non-acquired panhypopituitarism ORPHA:90695
- Combined pituitary hormone deficiencies, genetic forms ORPHA:95494
- Familial adrenal hypoplasia with absent pituitary luteinizing hormone ORPHA:95700
- X-linked adrenal hypoplasia congenita ORPHA:95702
- Obesity due to leptin receptor gene deficiency ORPHA:179494
- Isolated congenital hypogonadotropic hypogonadism ORPHA:238666
- Isolated follicle stimulating hormone deficiency ORPHA:52901
- Congenital isolated ACTH deficiency ORPHA:199296
- Short stature due to GHSR deficiency ORPHA:314811
- Growth hormone insensitivity syndrome ORPHA:181393
- Laron syndrome ORPHA:633
- Growth delay due to insulin-like growth factor type 1 deficiency ORPHA:73272
- Growth delay due to insulin-like growth factor I resistance ORPHA:73273
- Short stature due to primary acid-labile subunit deficiency ORPHA:140941
- Laron syndrome with immunodeficiency ORPHA:220465
- Short stature due to partial GHR deficiency ORPHA:314802
- X-linked acrogigantism ORPHA:300373
- Familial hyperprolactinemia ORPHA:397685
- Rare genetic thyroid disease ORPHA:183631
- Rare hypothyroidism ORPHA:181396
- Congenital hypothyroidism ORPHA:442
- Permanent congenital hypothyroidism ORPHA:226292
- Syndromic hypothyroidism ORPHA:177107
- Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome ORPHA:597746
- Jung syndrome ORPHA:2321
- Pendred syndrome ORPHA:705
- Bamforth-Lazarus syndrome ORPHA:1226
- Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome ORPHA:1882
- Johanson-Blizzard syndrome ORPHA:2315
- Blepharophimosis-intellectual disability syndrome, SBBYS type ORPHA:3047
- Muscular pseudohypertrophy-hypothyroidism syndrome ORPHA:2349
- Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome ORPHA:88643
- Brain-lung-thyroid syndrome ORPHA:209905
- Polyendocrine-polyneuropathy syndrome ORPHA:453533
- Infantile multisystem neurologic-endocrine-pancreatic disease ORPHA:456312
- Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome ORPHA:589856
- Primary congenital hypothyroidism ORPHA:226295
- Congenital hypothyroidism due to developmental anomaly ORPHA:95711
- Thyroid ectopia ORPHA:95712
- Athyreosis ORPHA:95713
- Thyroid hemiagenesis ORPHA:95719
- Thyroid hypoplasia ORPHA:95720
- Primary congenital hypothyroidism without thyroid developmental anomaly ORPHA:95714
- Central congenital hypothyroidism ORPHA:226298
- Isolated thyroid-stimulating hormone deficiency ORPHA:90674
- Resistance to thyrotropin-releasing hormone syndrome ORPHA:99832
- Hypothyroidism due to deficient transcription factors involved in pituitary development or function ORPHA:226307
- Isolated thyrotropin-releasing hormone deficiency ORPHA:238670
- X-linked central congenital hypothyroidism with late-onset testicular enlargement ORPHA:329235
- Genetic transient congenital hypothyroidism ORPHA:226316
- Rare hyperthyroidism ORPHA:181399
- Familial hyperthyroidism due to mutations in TSH receptor ORPHA:424
- Familial gestational hyperthyroidism ORPHA:99819
- Familial multinodular goiter ORPHA:276399
- Syndrome of reduced sensitivity to thyroid hormone ORPHA:596426
- Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta ORPHA:566243
- Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha ORPHA:566231
- Allan-Herndon-Dudley syndrome ORPHA:59
- Short stature-delayed bone age due to thyroid hormone metabolism deficiency ORPHA:171706
- Euthyroid dysprealbuminemic hyperthyroxinemia ORPHA:597939
- Rare genetic parathyroid disease and phosphocalcic metabolism disorder ORPHA:183634
- Familial hypocalciuric hypercalcemia ORPHA:405
- Familial hypocalciuric hypercalcemia type 1 ORPHA:93372
- Familial hypocalciuric hypercalcemia type 2 ORPHA:101049
- Familial hypocalciuric hypercalcemia type 3 ORPHA:101050
- Familial tumoral calcinosis ORPHA:53715
- Familial normophosphatemic tumoral calcinosis ORPHA:306658
- Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome ORPHA:306661
- Genetic hypoparathyroidism ORPHA:208593
- Familial isolated hypoparathyroidism ORPHA:2238
- Familial isolated hypoparathyroidism due to agenesis of parathyroid gland ORPHA:2239
- Autosomal dominant hypocalcemia ORPHA:428
- Familial isolated hypoparathyroidism due to impaired PTH secretion ORPHA:189466
- Autoimmune polyendocrinopathy type 1 ORPHA:3453
- Pseudohypoparathyroidism ORPHA:97593
- Pseudohypoparathyroidism without Albright hereditary osteodystrophy ORPHA:457062
- Pseudohypoparathyroidism with Albright hereditary osteodystrophy ORPHA:457059
- Syndrome with hypoparathyroidism ORPHA:181402
- Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome ORPHA:589856
- Kearns-Sayre syndrome ORPHA:480
- Pearson syndrome ORPHA:699
- Dahlberg-Borer-Newcomer syndrome ORPHA:1563
- Hypoparathyroidism-sensorineural deafness-renal disease syndrome ORPHA:2237
- Sanjad-Sakati syndrome ORPHA:2323
- Kenny-Caffey syndrome ORPHA:2333
- Autosomal recessive Kenny-Caffey syndrome ORPHA:93324
- Autosomal dominant Kenny-Caffey syndrome ORPHA:93325
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ORPHA:5
- 22q11.2 deletion syndrome ORPHA:567
- Genetic hyperparathyroidism ORPHA:208596
- Neonatal severe primary hyperparathyroidism ORPHA:417
- Familial primary hyperparathyroidism ORPHA:2207
- Disorders of vitamin D metabolism ORPHA:289098
- Hypophosphatemic rickets ORPHA:437
- Dent disease ORPHA:1652
- Cystinosis ORPHA:213
- Infantile nephropathic cystinosis ORPHA:411629
- Juvenile nephropathic cystinosis ORPHA:411634
- Ocular cystinosis ORPHA:411641
- Dominant hypophosphatemia with nephrolithiasis or osteoporosis ORPHA:244305
- X-linked hypophosphatemia ORPHA:89936
- Autosomal dominant hypophosphatemic rickets ORPHA:89937
- Hereditary hypophosphatemic rickets with hypercalciuria ORPHA:157215
- Autosomal recessive hypophosphatemic rickets ORPHA:289176
- Hypocalcemic rickets ORPHA:289103
- Autosomal recessive infantile hypercalcemia ORPHA:300547
- Rare genetic adrenal disease ORPHA:183637
- Familial hypoaldosteronism ORPHA:427
- Early-onset familial hypoaldosteronism ORPHA:556030
- Late-onset familial hypoaldosteronism ORPHA:556037
- Pseudoleprechaunism syndrome, Patterson type ORPHA:2976
- Apparent mineralocorticoid excess ORPHA:320
- Hereditary pheochromocytoma-paraganglioma ORPHA:29072
- Genetic chronic primary adrenal insufficiency ORPHA:101960
- X-linked adrenoleukodystrophy ORPHA:43
- Triple A syndrome ORPHA:869
- Adrenomyodystrophy ORPHA:977
- Autoimmune polyendocrinopathy type 1 ORPHA:3453
- Familial glucocorticoid deficiency ORPHA:361
- 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency ORPHA:168558
- Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency ORPHA:289548
- Neonatal adrenoleukodystrophy ORPHA:44
- Congenital adrenal hyperplasia ORPHA:418
- Congenital lipoid adrenal hyperplasia due to STAR deficency ORPHA:90790
- Classic congenital lipoid adrenal hyperplasia due to STAR deficency ORPHA:325524
- Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency ORPHA:325529
- Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency ORPHA:90791
- Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency ORPHA:90793
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ORPHA:90794
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form ORPHA:315306
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form ORPHA:315311
- Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency ORPHA:90795
- Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency ORPHA:95699
- Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis ORPHA:63269
- Adrenal hypoplasia congenita ORPHA:595337
- IMAGe syndrome ORPHA:85173
- Familial adrenal hypoplasia with absent pituitary luteinizing hormone ORPHA:95700
- X-linked adrenal hypoplasia congenita ORPHA:95702
- MIRAGE syndrome ORPHA:494433
- Familial steroid-resistant nephrotic syndrome with adrenal insufficiency ORPHA:506334
- Xp21 deletion syndrome ORPHA:261476
- Endocrine-cerebro-osteodysplasia syndrome ORPHA:199332
- Adrenogenital syndrome ORPHA:181412
- Congenital adrenal hyperplasia ORPHA:418
- Congenital lipoid adrenal hyperplasia due to STAR deficency ORPHA:90790
- Classic congenital lipoid adrenal hyperplasia due to STAR deficency ORPHA:325524
- Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency ORPHA:325529
- Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency ORPHA:90791
- Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency ORPHA:90793
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ORPHA:90794
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form ORPHA:315306
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form ORPHA:315311
- Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency ORPHA:90795
- Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency ORPHA:95699
- Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis ORPHA:63269
- Generalized glucocorticoid resistance syndrome ORPHA:786
- Hyperandrogenism due to cortisone reductase deficiency ORPHA:168588
- MIRAGE syndrome ORPHA:494433
- Corticosteroid-binding globulin deficiency ORPHA:199247
- Genetic hyperaldosteronism ORPHA:371861
- Familial hyperaldosteronism ORPHA:235936
- Familial hyperaldosteronism type I ORPHA:403
- Familial hyperaldosteronism type II ORPHA:404
- Familial hyperaldosteronism type III ORPHA:251274
- Familial hyperaldosteronism type IV ORPHA:642671
- Primary hyperaldosteronism-seizures-neurological abnormalities syndrome ORPHA:369929
- Multiple paragangliomas associated with polycythemia ORPHA:324299
- Cushing syndrome due to bilateral macronodular adrenocortical disease ORPHA:189427
- Genetic polyendocrinopathy ORPHA:183643
- Bangstad syndrome ORPHA:1227
- Autoimmune polyendocrinopathy type 1 ORPHA:3453
- Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ORPHA:37042
- Multiple polyglandular tumor ORPHA:100094
- Von Hippel-Lindau disease ORPHA:892
- Carney complex ORPHA:1359
- Carney-Stratakis syndrome ORPHA:97286
- Carney triad ORPHA:139411
- Multiple endocrine neoplasia ORPHA:276161
- STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome ORPHA:391487
- Combined immunodeficiency due to LRBA deficiency ORPHA:445018
- MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome ORPHA:686495
- Familial hyperinsulinism ORPHA:276525
- Congenital isolated hyperinsulinism ORPHA:657
- Diazoxide-sensitive diffuse hyperinsulinism ORPHA:165985
- Hyperinsulinism-hyperammonemia syndrome ORPHA:35878
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency ORPHA:71212
- Congenital glucokinase-related hyperinsulinism ORPHA:79299
- Exercise-induced hyperinsulinism ORPHA:165991
- Congenital hyperinsulinism due to HNF4A deficiency ORPHA:263455
- Hyperinsulinism due to UCP2 deficiency ORPHA:276556
- Autosomal dominant hyperinsulinism due to SUR1 deficiency ORPHA:276575
- Autosomal dominant hyperinsulinism due to Kir6.2 deficiency ORPHA:276580
- Hyperinsulinism due to HNF1A deficiency ORPHA:324575
- Diazoxide-resistant hyperinsulinism ORPHA:276585
- Hyperinsulinism due to INSR deficiency ORPHA:263458
- Non-insulinoma pancreatogenous hypoglycemia syndrome ORPHA:276608
- Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome ORPHA:544628
- Hypoinsulinemic hypoglycemia and body hemihypertrophy ORPHA:293964
- Genetic difference of sex development ORPHA:325690
- Sex chromosome difference of sex development ORPHA:325546
- Turner syndrome ORPHA:881
- Monosomy X syndrome ORPHA:99226
- Mosaic monosomy X syndrome ORPHA:99228
- Turner syndrome due to structural X chromosome anomalies ORPHA:99413
- 48,XXYY syndrome ORPHA:10
- 45,X/46,XY mixed gonadal dysgenesis ORPHA:1772
- 48,XXXY syndrome ORPHA:96263
- 49,XXXXY syndrome ORPHA:96264
- Tetragametic chimerism syndrome ORPHA:199310
- Genetic 46,XX difference of sex development ORPHA:325697
- 46,XX difference of sex development induced by fetal androgens excess ORPHA:90776
- Generalized glucocorticoid resistance syndrome ORPHA:786
- Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency ORPHA:90791
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ORPHA:90794
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form ORPHA:315306
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form ORPHA:315311
- Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency ORPHA:90795
- Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency ORPHA:95699
- Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis ORPHA:63269
- 46,XX disorder of gonadal development ORPHA:325055
- 46,XX gonadal dysgenesis ORPHA:243
- 46,XX ovotesticular difference of sex development ORPHA:2138
- 46,XX testicular difference of sex development ORPHA:393
- 46,XX ovarian dysgenesis-short stature syndrome ORPHA:444048
- 46,XX difference of sex development induced by fetoplacental androgens excess ORPHA:325061
- Syndrome with 46,XX difference of sex development ORPHA:325109
- PAGOD syndrome ORPHA:991
- Perrault syndrome ORPHA:2855
- 46,XX difference of sex development-anorectal anomalies syndrome ORPHA:2973
- 46,XX difference of sex development-skeletal anomalies syndrome ORPHA:2975
- Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome ORPHA:85112
- Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome ORPHA:137631
- SERKAL syndrome ORPHA:139466
- Müllerian aplasia and hyperandrogenism ORPHA:247768
- Genetic 46,XY difference of sex development ORPHA:325706
- Syndrome with 46,XY difference of sex development ORPHA:98087
- WAGR syndrome ORPHA:893
- Distal deletion 9p syndrome ORPHA:1642
- XY type gonadal dysgenesis-associated anomalies syndrome ORPHA:1770
- Difference of sex development-intellectual disability syndrome ORPHA:2983
- Chondrodysplasia-difference of sex development syndrome ORPHA:1422
- X-linked alpha-thalassemia-intellectual disability syndrome ORPHA:847
- Campomelic dysplasia ORPHA:140
- PAGOD syndrome ORPHA:991
- Dysmorphism-short stature-deafness-difference of sex development syndrome ORPHA:2282
- Meacham syndrome ORPHA:3097
- Denys-Drash syndrome ORPHA:220
- Frasier syndrome ORPHA:347
- X-linked lissencephaly with abnormal genitalia ORPHA:452
- Familial adrenal hypoplasia with absent pituitary luteinizing hormone ORPHA:95700
- 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome ORPHA:168563
- Sudden infant death-dysgenesis of the testes syndrome ORPHA:168593
- X-linked myotubular myopathy-abnormal genitalia syndrome ORPHA:456328
- MIRAGE syndrome ORPHA:494433
- Genitopalatocardiac syndrome ORPHA:2075
- 46,XY disorder of gonadal development ORPHA:325118
- 46,XY complete gonadal dysgenesis ORPHA:242
- Testicular regression syndrome ORPHA:983
- 46,XY partial gonadal dysgenesis ORPHA:251510
- Testicular agenesis ORPHA:325124
- 46,XY ovotesticular difference of sex development ORPHA:325345
- Genetic 46,XY difference of sex development of endocrine origin ORPHA:325713
- Androgen insensitivity syndrome ORPHA:754
- Partial androgen insensitivity syndrome ORPHA:90797
- Complete androgen insensitivity syndrome ORPHA:99429
- 46,XY difference of sex development due to impaired androgen production ORPHA:325357
- Leydig cell hypoplasia ORPHA:755
- Leydig cell hypoplasia due to complete LH resistance ORPHA:96265
- Leydig cell hypoplasia due to partial LH resistance ORPHA:96266
- Leydig cell hypoplasia due to LHB deficiency ORPHA:325448
- 46,XY difference of sex development due to a testosterone synthesis defect ORPHA:90783
- 46,XY difference of sex development due to adrenal and testicular steroidogenesis defect ORPHA:90786
- Congenital lipoid adrenal hyperplasia due to STAR deficency ORPHA:90790
- Classic congenital lipoid adrenal hyperplasia due to STAR deficency ORPHA:325524
- Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency ORPHA:325529
- Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency ORPHA:90791
- Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency ORPHA:90793
- Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency ORPHA:95699
- 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency ORPHA:168558
- Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis ORPHA:63269
- 46,XY difference of sex development due to testicular steroidogenesis defect ORPHA:90787
- 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency ORPHA:752
- 46,XY difference of sex development due to isolated 17,20-lyase deficiency ORPHA:90796
- 46,XY difference of sex development due to a cholesterol synthesis defect ORPHA:325511
- 46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue ORPHA:98086
- 46,XY difference of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect ORPHA:443090
- Rare genetic hematologic disease ORPHA:158300
- Paroxysmal nocturnal hemoglobinuria ORPHA:447
- Congenital analbuminemia ORPHA:86816
- Rare constitutional anemia ORPHA:183651
- Genetic hemoglobinopathy ORPHA:466066
- Hemoglobin M disease ORPHA:330041
- Hereditary methemoglobinemia ORPHA:621
- Hemoglobin C disease ORPHA:2132
- Hemoglobin E disease ORPHA:2133
- Hemoglobin D disease ORPHA:90039
- Alpha-thalassemia and related disorders ORPHA:275745
- Beta-thalassemia and related diseases ORPHA:275749
- Beta-thalassemia ORPHA:848
- Beta-thalassemia major ORPHA:231214
- Beta-thalassemia intermedia ORPHA:231222
- Dominant beta-thalassemia ORPHA:231226
- Beta-thalassemia associated with another hemoglobin anomaly ORPHA:231230
- Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome ORPHA:46532
- Delta-beta-thalassemia ORPHA:231237
- Hemoglobin C-beta-thalassemia syndrome ORPHA:231242
- Hemoglobin E-beta-thalassemia syndrome ORPHA:231249
- Hemoglobin Lepore-beta-thalassemia syndrome ORPHA:330032
- Beta-thalassemia with other manifestations ORPHA:231386
- Sickle cell disease and related diseases ORPHA:275752
- Sickle cell anemia ORPHA:232
- Sickle cell disease associated with another hemoglobin anomaly ORPHA:251355
- Hemoglobinopathy Toms River ORPHA:280615
- Constitutional sideroblastic anemia ORPHA:98362
- Pearson syndrome ORPHA:699
- Mitochondrial myopathy and sideroblastic anemia ORPHA:2598
- X-linked sideroblastic anemia and spinocerebellar ataxia ORPHA:2802
- Thiamine-responsive megaloblastic anemia syndrome ORPHA:49827
- X-linked sideroblastic anemia ORPHA:75563
- Adult-onset autosomal recessive sideroblastic anemia ORPHA:255132
- Autosomal recessive sideroblastic anemia ORPHA:260305
- Severe congenital hypochromic anemia with ringed sideroblasts ORPHA:300298
- Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ORPHA:369861
- Rare constitutional aplastic anemia ORPHA:68383
- Diamond-Blackfan anemia ORPHA:124
- Dyskeratosis congenita ORPHA:1775
- Fanconi anemia ORPHA:84
- Revesz syndrome ORPHA:3088
- Hoyeraal-Hreidarsson syndrome ORPHA:3322
- WT limb-blood syndrome ORPHA:3466
- Congenital amegakaryocytic thrombocytopenia ORPHA:3319
- Shwachman-Diamond syndrome ORPHA:811
- Autosomal dominant aplasia and myelodysplasia ORPHA:314399
- Hereditary isolated aplastic anemia ORPHA:397692
- Pancytopenia-developmental delay syndrome ORPHA:401764
- Aplastic anemia-intellectual disability-dwarfism syndrome ORPHA:611216
- Rare constitutional hemolytic anemia ORPHA:182043
- Genetic hemolytic uremic syndrome ORPHA:576742
- Atypical hemolytic uremic syndrome ORPHA:2134
- Atypical hemolytic uremic syndrome with complement gene abnormality ORPHA:544472
- Atypical hemolytic uremic syndrome with anti-factor H antibodies ORPHA:93581
- Methylmalonic acidemia with homocystinuria, type cblC ORPHA:79282
- Hemolytic uremic syndrome with DGKE deficiency ORPHA:357008
- Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome ORPHA:688581
- Lethal hemolytic anemia-genital anomalies syndrome ORPHA:1046
- Familial LCAT deficiency ORPHA:79293
- Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome ORPHA:86818
- Rare constitutional hemolytic anemia due to a red cell membrane anomaly ORPHA:98364
- Hereditary spherocytosis ORPHA:822
- Hereditary elliptocytosis ORPHA:288
- Distal renal tubular acidosis with anemia ORPHA:93610
- Hereditary stomatocytosis ORPHA:98365
- Overhydrated hereditary stomatocytosis ORPHA:3203
- Dehydrated hereditary stomatocytosis ORPHA:3202
- Rh deficiency syndrome ORPHA:71275
- Familial pseudohyperkalemia ORPHA:90044
- Southeast Asian ovalocytosis ORPHA:98868
- Hereditary cryohydrocytosis with reduced stomatin ORPHA:168577
- Hereditary cryohydrocytosis with normal stomatin ORPHA:398088
- Constitutional hemolytic anemia due to acanthocytosis ORPHA:98366
- Primary CD59 deficiency ORPHA:169464
- Rare constitutional hemolytic anemia due to an enzyme disorder ORPHA:98369
- Harderoporphyria ORPHA:659672
- Congenital erythropoietic porphyria ORPHA:79277
- Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies ORPHA:98370
- Glutathione synthetase deficiency ORPHA:32
- Glutathione synthetase deficiency with 5-oxoprolinuria ORPHA:289846
- Glutathione synthetase deficiency without 5-oxoprolinuria ORPHA:289849
- Glutamate-cysteine ligase deficiency ORPHA:33574
- Hemolytic anemia due to glutathione reductase deficiency ORPHA:90030
- 6-phosphogluconate dehydrogenase deficiency ORPHA:99135
- Hemolytic anemia due to a disorder of glycolytic enzymes ORPHA:98372
- Glycogen storage disease due to muscle phosphofructokinase deficiency ORPHA:371
- Triose phosphate-isomerase deficiency ORPHA:868
- Glycogen storage disease due to aldolase A deficiency ORPHA:57
- Glycogen storage disease due to phosphoglycerate kinase 1 deficiency ORPHA:713
- Hemolytic anemia due to red cell pyruvate kinase deficiency ORPHA:766
- Hemolytic anemia due to glucophosphate isomerase deficiency ORPHA:712
- Hemolytic anemia due to diphosphoglycerate mutase deficiency ORPHA:714
- Non-spherocytic hemolytic anemia due to hexokinase deficiency ORPHA:90031
- Class I glucose-6-phosphate dehydrogenase deficiency ORPHA:466026
- Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder ORPHA:98374
- Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency ORPHA:35120
- Hemolytic anemia due to adenylate kinase deficiency ORPHA:86817
- Hemolytic anemia due to erythrocyte adenosine deaminase overproduction ORPHA:99138
- Autosomal erythropoietic protoporphyria ORPHA:79278
- Constitutional deficiency anemia ORPHA:248296
- Constitutional anemia due to iron metabolism disorder ORPHA:98360
- Congenital atransferrinemia ORPHA:1195
- Microcytic anemia with liver iron overload ORPHA:83642
- IRIDA syndrome ORPHA:209981
- Severe congenital hypochromic anemia with ringed sideroblasts ORPHA:300298
- Aceruloplasminemia ORPHA:48818
- Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder ORPHA:98396
- Methylmalonic acidemia with homocystinuria ORPHA:26
- Methylmalonic acidemia with homocystinuria, type cblC ORPHA:79282
- Methylmalonic acidemia with homocystinuria, type cblD ORPHA:79283
- Methylmalonic acidemia with homocystinuria type cblF ORPHA:79284
- Methylmalonic acidemia with homocystinuria, type cblJ ORPHA:369955
- Methylmalonic acidemia with homocystinuria, type cblX ORPHA:369962
- Transcobalamin deficiency ORPHA:859
- Congenital intrinsic factor deficiency ORPHA:332
- Homocystinuria without methylmalonic aciduria ORPHA:622
- Methylcobalamin deficiency type cblE ORPHA:2169
- Methylcobalamin deficiency type cblG ORPHA:2170
- Methylcobalamin deficiency type cblDv1 ORPHA:308380
- Imerslund-Gräsbeck syndrome ORPHA:35858
- Constitutional megaloblastic anemia due to folate metabolism disorder ORPHA:98408
- Formiminoglutamic aciduria ORPHA:51208
- Hereditary folate malabsorption ORPHA:90045
- Constitutional megaloblastic anemia with severe neurologic disease ORPHA:319651
- Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency ORPHA:658813
- Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency ORPHA:661412
- Vitamin B12- and folate-independent constitutional megaloblastic anemia ORPHA:98415
- Constitutional dyserythropoietic anemia ORPHA:293830
- Congenital dyserythropoietic anemia ORPHA:85
- Thrombocytopenia with congenital dyserythropoietic anemia ORPHA:67044
- Congenital dyserythropoietic anemia type I ORPHA:98869
- Congenital dyserythropoietic anemia type III ORPHA:98870
- Congenital dyserythropoietic anemia type II ORPHA:98873
- Congenital dyserythropoietic anemia type IV ORPHA:293825
- X-linked dyserythropoietic anemia with abnormal platelets and neutropenia ORPHA:363727
- Majeed syndrome ORPHA:77297
- Pancreatic insufficiency-anemia-hyperostosis syndrome ORPHA:199337
- Rare genetic coagulation disorder ORPHA:183654
- Rare hemorrhagic disorder due to a constitutional coagulation factors defect ORPHA:68334
- Combined deficiency of factor VII and factor X ORPHA:600691
- Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome ORPHA:3151
- Hemophilia ORPHA:448
- Hemophilia A ORPHA:98878
- Severe hemophilia A ORPHA:169802
- Moderate hemophilia A ORPHA:169805
- Mild hemophilia A ORPHA:169808
- Bleeding disorder in hemophilia A carriers ORPHA:177926
- Hemophilia B ORPHA:98879
- Congenital factor V deficiency ORPHA:326
- Congenital fibrinogen deficiency ORPHA:335
- Familial afibrinogenemia ORPHA:98880
- Familial dysfibrinogenemia ORPHA:98881
- Familial hypofibrinogenemia ORPHA:101041
- Familial hypodysfibrinogenemia ORPHA:248408
- Congenital alpha2-antiplasmin deficiency ORPHA:79
- Congenital factor XIII deficiency ORPHA:331
- Von Willebrand disease ORPHA:903
- Von Willebrand disease type 1 ORPHA:166078
- Von Willebrand disease type 2 ORPHA:166081
- Von Willebrand disease type 2A ORPHA:166084
- Von Willebrand disease type 2B ORPHA:166087
- Von Willebrand disease type 2M ORPHA:166090
- Von Willebrand disease type 2N ORPHA:166093
- Von Willebrand disease type 3 ORPHA:166096
- Congenital factor XI deficiency ORPHA:329
- Congenital plasminogen activator inhibitor type 1 deficiency ORPHA:465
- Congenital high-molecular-weight kininogen deficiency ORPHA:483
- Congenital prekallikrein deficiency ORPHA:749
- Combined deficiency of factor V and factor VIII ORPHA:35909
- Congenital vitamin K-dependent coagulation factors deficiency ORPHA:169826
- Congenital factor VII deficiency ORPHA:327
- Congenital factor II deficiency ORPHA:325
- Congenital factor X deficiency ORPHA:328
- Hereditary combined deficiency of vitamin K-dependent clotting factors ORPHA:98434
- Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation ORPHA:178396
- Factor V short isoforms-related bleeding disorder ORPHA:599519
- East Texas bleeding disorder ORPHA:391320
- Factor V Amsterdam bleeding disorder ORPHA:599579
- Factor V Atlanta bleeding disorder ORPHA:600194
- Thrombomodulin-related bleeding disorder ORPHA:436169
- Rare hemorrhagic disorder due to a constitutional platelet anomaly ORPHA:71202
- Rare hemorrhagic disorder due to a constitutional thrombocytopenia ORPHA:275729
- Syndromic constitutional thrombocytopenia ORPHA:477794
- Actinomyopathy-associated syndromic thrombocytopenia ORPHA:674653
- Periodic fever-immunodeficiency-thrombocytopenia syndrome ORPHA:652522
- Hereditary thrombocytopenia with early-onset myelofibrosis ORPHA:480851
- Stormorken-Sjaastad-Langslet syndrome ORPHA:3204
- Thrombocytopenia-absent radius syndrome ORPHA:3320
- Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome ORPHA:71289
- MYH9-related syndromic thrombocytopenia ORPHA:182050
- GNE myopathy ORPHA:602
- Jacobsen syndrome ORPHA:2308
- Macrothrombocytopenia with mitral valve insufficiency ORPHA:220448
- Alpha delta granule deficiency ORPHA:734
- Dense granule disease ORPHA:98456
- Wiskott-Aldrich syndrome ORPHA:906
- Chédiak-Higashi syndrome ORPHA:167
- Familial platelet disorder with associated myeloid malignancy ORPHA:71290
- Hermansky-Pudlak syndrome ORPHA:79430
- Hermansky-Pudlak syndrome due to AP-3 deficiency ORPHA:183678
- Hermansky-Pudlak syndrome due to AP3B1 deficiency ORPHA:664500
- Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency ORPHA:664511
- Hermansky-Pudlak syndrome due to BLOC-3 deficiency ORPHA:231500
- Hermansky-Pudlak syndrome due to BLOC-2 deficiency ORPHA:231512
- Hermansky-Pudlak syndrome due to BLOC-1 deficiency ORPHA:231531
- Takenouchi-Kosaki syndrome ORPHA:487796
- DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome ORPHA:494444
- 21q22.11q22.12 microdeletion syndrome ORPHA:261323
- Isolated constitutional thrombocytopenia ORPHA:477797
- Isolated hereditary giant platelet disorder ORPHA:220452
- X-linked dyserythropoietic anemia with abnormal platelets and neutropenia ORPHA:363727
- Severe autosomal recessive macrothrombocytopenia ORPHA:438207
- Bernard-Soulier syndrome ORPHA:274
- Thrombocytopenia with congenital dyserythropoietic anemia ORPHA:67044
- Autosomal dominant macrothrombocytopenia ORPHA:140957
- Alpha granule disease ORPHA:98455
- Hereditary thrombocytopenia with normal platelets ORPHA:268322
- X-linked thrombocytopenia with normal platelets ORPHA:852
- Autosomal thrombocytopenia with normal platelets ORPHA:168629
- Familial platelet disorder with associated myeloid malignancy ORPHA:71290
- Congenital amegakaryocytic thrombocytopenia ORPHA:3319
- Bleeding diathesis due to thromboxane synthesis deficiency ORPHA:220443
- Isolated delta-storage pool disease ORPHA:248340
- Autosomal dominant thrombocytopenia with platelet secretion defect ORPHA:466806
- Congenital autosomal recessive small-platelet thrombocytopenia ORPHA:566192
- Rare hemorrhagic disorder due to a qualitative platelet defect ORPHA:275736
- Glanzmann thrombasthenia ORPHA:849
- Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder ORPHA:477787
- Scott syndrome ORPHA:806
- Bleeding disorder due to P2Y12 defect ORPHA:36355
- Pseudo-von Willebrand disease ORPHA:52530
- Bleeding diathesis due to a collagen receptor defect ORPHA:73271
- Bleeding diathesis due to glycoprotein VI deficiency ORPHA:98885
- Bleeding diathesis due to integrin alpha2-beta1 deficiency ORPHA:98886
- Bleeding disorder due to CalDAG-GEFI deficiency ORPHA:420566
- Congenital thrombotic thrombocytopenic purpura ORPHA:93583
- Rare thrombotic disorder due to a constitutional coagulation factors defect ORPHA:248361
- Congenital factor XII deficiency ORPHA:330
- Familial thrombomodulin anomalies ORPHA:3324
- Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency ORPHA:83639
- Rare hereditary thrombophilia ORPHA:217454
- Severe hereditary thrombophilia due to congenital protein S deficiency ORPHA:743
- Severe hereditary thrombophilia due to congenital protein C deficiency ORPHA:745
- Hereditary thrombophilia due to congenital antithrombin deficiency ORPHA:82
- Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency ORPHA:217467
- Rare thrombotic disorder due to a constitutional platelet anomaly ORPHA:248401
- Genetic polycythemia ORPHA:250165
- Multiple paragangliomas associated with polycythemia ORPHA:324299
- Primary familial polycythemia ORPHA:90042
- Secondary polycythemia ORPHA:98428
- L-ferritin deficiency ORPHA:440731
- Rare genetic gastroenterological disease ORPHA:165652
- Genetic intestinal disease ORPHA:165655
- Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome ORPHA:566175
- Aplasia cutis congenita-intestinal lymphangiectasia syndrome ORPHA:1116
- Primary intestinal lymphangiectasia ORPHA:90362
- Congenital intestinal transport defect ORPHA:104003
- Hereditary fructose intolerance ORPHA:469
- Glucose-galactose malabsorption ORPHA:35710
- Congenital chloride diarrhea ORPHA:53689
- Congenital sodium diarrhea ORPHA:103908
- Syndromic congenital sodium diarrhea ORPHA:563708
- Intestinal disease due to vitamin absorption anomaly ORPHA:104004
- Congenital intestinal disease due to an enzymatic defect ORPHA:104006
- Congenital sucrase-isomaltase deficiency ORPHA:35122
- Congenital lactase deficiency ORPHA:53690
- Chronic diarrhea due to glucoamylase deficiency ORPHA:103907
- Trehalase deficiency ORPHA:103909
- Congenital enteropathy due to enteropeptidase deficiency ORPHA:168601
- Congenital enteropathy involving intestinal mucosa development ORPHA:104007
- Microvillus inclusion disease ORPHA:2290
- Enteric anendocrinosis ORPHA:83620
- Congenital tufting enteropathy ORPHA:92050
- Congenital enterocyte heparan sulfate deficiency ORPHA:103910
- Rare disease involving intestinal motility ORPHA:104009
- Hirschsprung disease ORPHA:388
- Waardenburg-Shah syndrome ORPHA:897
- Oculogastrointestinal muscular dystrophy ORPHA:1876
- Familial visceral myopathy ORPHA:2604
- Megacystis-microcolon-intestinal hypoperistalsis syndrome ORPHA:2241
- Chronic intestinal pseudoobstruction syndrome ORPHA:2978
- Neuronal intestinal pseudoobstruction ORPHA:99811
- Myopathic intestinal pseudoobstruction ORPHA:104077
- Unclassified intestinal pseudoobstruction ORPHA:104078
- Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease ORPHA:163746
- Chronic infantile diarrhea due to guanylate cyclase 2C overactivity ORPHA:314373
- Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency ORPHA:314376
- Multisystemic smooth muscle dysfunction syndrome ORPHA:404463
- Hirschsprung disease-type D brachydactyly syndrome ORPHA:2150
- Hirschsprung disease-nail hypoplasia-dysmorphism syndrome ORPHA:2153
- Hirschsprung disease-deafness-polydactyly syndrome ORPHA:2155
- Hirschsprung disease-ganglioneuroblastoma syndrome ORPHA:2151
- Bardet-Biedl syndrome ORPHA:110
- Goldberg-Shprintzen megacolon syndrome ORPHA:66629
- Haddad syndrome ORPHA:99803
- Metabolic disease with intestinal involvement ORPHA:104013
- Pearson syndrome ORPHA:699
- Mitochondrial neurogastrointestinal encephalomyopathy ORPHA:298
- Mitochondrial DNA depletion syndrome ORPHA:35698
- Mitochondrial DNA depletion syndrome, encephalomyopathic form ORPHA:254803
- Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ORPHA:1933
- Fatal infantile lactic acidosis with methylmalonic aciduria ORPHA:17
- Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy ORPHA:255235
- Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies ORPHA:369897
- Mitochondrial DNA depletion syndrome, hepatocerebral form ORPHA:254871
- Infantile-onset spinocerebellar ataxia ORPHA:1186
- Alpers-Huttenlocher syndrome ORPHA:726
- Navajo neurohepatopathy ORPHA:255229
- Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency ORPHA:279934
- Mitochondrial DNA depletion syndrome, hepatocerebrorenal form ORPHA:363534
- Mitochondrial DNA depletion syndrome, myopathic form ORPHA:254875
- Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome ORPHA:313772
- Congenital disorder of glycosylation with intestinal involvement ORPHA:371188
- Neonatal inflammatory skin and bowel disease ORPHA:294023
- Genetic intractable diarrhea of infancy ORPHA:363300
- Syndromic congenital sodium diarrhea ORPHA:563708
- Congenital sodium diarrhea ORPHA:103908
- Microvillus inclusion disease ORPHA:2290
- Chronic diarrhea with villous atrophy ORPHA:1670
- Syndromic diarrhea ORPHA:84064
- Congenital tufting enteropathy ORPHA:92050
- Intractable diarrhea-choanal atresia-eye anomalies syndrome ORPHA:137622
- Congenital chronic diarrhea with protein-losing enteropathy ORPHA:329242
- Syndromic autoimmune enteropathy ORPHA:522043
- Syndromic multisystem autoimmune disease due to Itch deficiency ORPHA:228426
- STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome ORPHA:391487
- STAT3-related early-onset multisystem autoimmune disease ORPHA:438159
- Immunodeficiency due to CD25 deficiency ORPHA:169100
- Laron syndrome with immunodeficiency ORPHA:220465
- Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency ORPHA:436159
- Combined immunodeficiency due to LRBA deficiency ORPHA:445018
- Autoimmune polyendocrinopathy type 1 ORPHA:3453
- Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ORPHA:37042
- Genetic intestinal disease due to fat malabsorption ORPHA:363306
- Abetalipoproteinemia ORPHA:14
- Chylomicron retention disease ORPHA:71
- Acrodermatitis enteropathica ORPHA:37
- Genetic intestinal polyposis ORPHA:363314
- Familial adenomatous polyposis ORPHA:733
- Gardner syndrome ORPHA:79665
- Turcot syndrome with polyposis ORPHA:99818
- Familial adenomatous polyposis due to 5q22.2 microdeletion ORPHA:261584
- Peutz-Jeghers syndrome ORPHA:2869
- Juvenile polyposis syndrome ORPHA:2929
- Juvenile polyposis of infancy ORPHA:79076
- Generalized juvenile polyposis/juvenile polyposis coli ORPHA:329971
- Bannayan-Riley-Ruvalcaba syndrome ORPHA:109
- Hereditary mixed polyposis syndrome ORPHA:157794
- Serrated polyposis syndrome ORPHA:157798
- Attenuated familial adenomatous polyposis ORPHA:220460
- MUTYH-related attenuated familial adenomatous polyposis ORPHA:247798
- APC-related attenuated familial adenomatous polyposis ORPHA:247806
- MSH3-related attenuated familial adenomatous polyposis ORPHA:480536
- Polymerase proofreading-related adenomatous polyposis ORPHA:447877
- NTHL1-related attenuated familial adenomatous polyposis ORPHA:454840
- Primary short bowel syndrome ORPHA:365563
- Chronic atrial and intestinal dysrhythmia syndrome ORPHA:435988
- IL21-related infantile inflammatory bowel disease ORPHA:477661
- Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder ORPHA:477787
- Immune dysregulation with inflammatory bowel disease ORPHA:529974
- Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome ORPHA:238569
- Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome ORPHA:529977
- Infantile inflammatory bowel disease with neurological involvement ORPHA:565788
- Inflammatory bowel disease-recurrent sinopulmonary infections syndrome ORPHA:529980
- X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency ORPHA:676125
- Cryptogenic multifocal ulcerous stenosing enteritis ORPHA:468635
- Chronic enteropathy associated with SLCO2A1 gene ORPHA:468641
- X-linked lymphoproliferative disease due to XIAP deficiency ORPHA:538934
- TRIM22-related inflammatory bowel disease ORPHA:597201
- ALPI-related inflammatory bowel disease ORPHA:597887
- Genetic gastro-esophageal disease ORPHA:165658
- Palmoplantar keratoderma-esophageal carcinoma syndrome ORPHA:2198
- Cystic fibrosis-gastritis-megaloblastic anemia syndrome ORPHA:2575
- Hereditary diffuse gastric cancer ORPHA:26106
- Moyamoya disease with early-onset achalasia ORPHA:401945
- Gastrocutaneous syndrome ORPHA:2069
- Genetic pancreatic disease ORPHA:165661
- Cystic fibrosis ORPHA:586
- Hereditary chronic pancreatitis ORPHA:676
- Familial pancreatic carcinoma ORPHA:1333
- Shwachman-Diamond syndrome ORPHA:811
- Pancreatic insufficiency-anemia-hyperostosis syndrome ORPHA:199337
- Disorder of lipid absorption and transport ORPHA:309028
- Pancreatic triacylglycerol lipase deficiency ORPHA:309031
- Pancreatic colipase deficiency ORPHA:309108
- Combined pancreatic lipase-colipase deficiency ORPHA:309111
- Infantile multisystem neurologic-endocrine-pancreatic disease ORPHA:456312
- Rare genetic bone disease ORPHA:183524
- Lysosomal storage disease with skeletal involvement ORPHA:93448
- Alpha-mannosidosis ORPHA:61
- Aspartylglucosaminuria ORPHA:93
- Multiple sulfatase deficiency ORPHA:585
- Beta-mannosidosis ORPHA:118
- Fucosidosis ORPHA:349
- Mucopolysaccharidosis type 6 ORPHA:583
- Mucopolysaccharidosis type 6, rapidly progressing ORPHA:276212
- Mucopolysaccharidosis type 6, slowly progressing ORPHA:276223
- Mucolipidosis type II ORPHA:576
- Mucolipidosis type III ORPHA:577
- Mucopolysaccharidosis type 7 ORPHA:584
- Mucopolysaccharidosis type 2 ORPHA:580
- Mucopolysaccharidosis type 2, severe form ORPHA:217085
- Mucopolysaccharidosis type 2, attenuated form ORPHA:217093
- Mucopolysaccharidosis type 1 ORPHA:579
- Galactosialidosis ORPHA:351
- Free sialic acid storage disease, infantile form ORPHA:309324
- GM1 gangliosidosis ORPHA:354
- GM1 gangliosidosis type 1 ORPHA:79255
- GM1 gangliosidosis type 2 ORPHA:79256
- GM1 gangliosidosis type 3 ORPHA:79257
- Mucopolysaccharidosis type 3 ORPHA:581
- Sanfilippo syndrome type A ORPHA:79269
- Sanfilippo syndrome type B ORPHA:79270
- Sanfilippo syndrome type C ORPHA:79271
- Sanfilippo syndrome type D ORPHA:79272
- Mucopolysaccharidosis type 4 ORPHA:582
- Hyaluronidase deficiency ORPHA:67041
- Sialidosis type 2 ORPHA:87876
- Mucopolysaccharidosis type 10 ORPHA:662216
- Congenital vascular bone syndrome ORPHA:235832
- Angioosteohypertrophic syndrome ORPHA:2346
- Gorham-Stout disease ORPHA:73
- Angioosteohypotrophic syndrome ORPHA:75508
- Primary intraosseous venous malformation ORPHA:140436
- Inverse Klippel-Trénaunay syndrome ORPHA:329324
- Primary bone dysplasia ORPHA:364526
- Genetic inflammatory or rheumatoid-like osteoarthropathy ORPHA:498445
- Progressive pseudorheumatoid dysplasia ORPHA:1159
- Hyaline fibromatosis syndrome ORPHA:498474
- CINCA syndrome ORPHA:1451
- Sterile multifocal osteomyelitis with periostitis and pustulosis ORPHA:210115
- Familial tumoral calcinosis ORPHA:53715
- Familial normophosphatemic tumoral calcinosis ORPHA:306658
- Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome ORPHA:306661
- Majeed syndrome ORPHA:77297
- Overgrowth or tall stature syndrome with skeletal involvement ORPHA:498448
- X-linked severe syndromic thoracic aortic aneurysm and dissection ORPHA:622925
- PRC-2 complex-related overgrowth spectrum ORPHA:659387
- Weaver syndrome ORPHA:3447
- Cohen-Gibson syndrome ORPHA:659396
- Imagawa-Matsumoto syndrome ORPHA:659463
- Marfan syndrome ORPHA:558
- Proteus syndrome ORPHA:744
- Sotos syndrome ORPHA:821
- Marshall-Smith syndrome ORPHA:561
- CLOVES syndrome ORPHA:140944
- Congenital contractural arachnodactyly ORPHA:115
- Loeys-Dietz syndrome ORPHA:60030
- Overgrowth syndrome with 2q37 translocation ORPHA:498488
- Tall stature-long halluces-multiple extra-epiphyses syndrome ORPHA:329191
- Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome ORPHA:498485
- Kosaki overgrowth syndrome ORPHA:477831
- Luscan-Lumish syndrome ORPHA:597738
- Primary bone dysplasia with micromelia ORPHA:364536
- Achondroplasia ORPHA:15
- Hypochondroplasia ORPHA:429
- Diastrophic dysplasia ORPHA:628
- Thanatophoric dysplasia ORPHA:2655
- Chondrodysplasia-difference of sex development syndrome ORPHA:1422
- Severe achondroplasia-developmental delay-acanthosis nigricans syndrome ORPHA:85165
- Otopalatodigital syndrome spectrum disorder ORPHA:364541
- Otopalatodigital syndrome type 2 ORPHA:90652
- Frontometaphyseal dysplasia ORPHA:1826
- Melnick-Needles syndrome ORPHA:2484
- Otopalatodigital syndrome type 1 ORPHA:90650
- Frank-Ter Haar syndrome ORPHA:137834
- Short stature-advanced bone age-early-onset osteoarthritis syndrome ORPHA:435804
- Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia ORPHA:253
- Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type ORPHA:642099
- MGP-related spondyloepiphyseal dysplasia ORPHA:664377
- Hip dysplasia, Beukes type ORPHA:2114
- Schwartz-Jampel syndrome ORPHA:800
- Dyggve-Melchior-Clausen disease ORPHA:239
- Marshall syndrome ORPHA:560
- Metatropic dysplasia ORPHA:2635
- Stickler syndrome ORPHA:828
- Stickler syndrome type 1 ORPHA:90653
- Stickler syndrome type 2 ORPHA:90654
- Autosomal recessive Stickler syndrome ORPHA:250984
- Progressive pseudorheumatoid dysplasia ORPHA:1159
- Autosomal recessive otospondylomegaepiphyseal dysplasia ORPHA:1427
- Wolcott-Rallison syndrome ORPHA:1667
- Schimke immuno-osseous dysplasia ORPHA:1830
- Dyssegmental dysplasia, Silverman-Handmaker type ORPHA:1865
- Kniest dysplasia ORPHA:485
- Richieri Costa-da Silva syndrome ORPHA:3101
- Spondyloperipheral dysplasia-short ulna syndrome ORPHA:1856
- Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome ORPHA:83629
- Brachydactylous dwarfism, Mseleni type ORPHA:2619
- Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis ORPHA:93279
- Spondyloepimetaphyseal dysplasia, PAPSS2 type ORPHA:93282
- Spondyloepiphyseal dysplasia, Kimberley type ORPHA:93283
- Spondyloepiphyseal dysplasia tarda ORPHA:93284
- Spondyloepimetaphyseal dysplasia congenita, Strudwick type ORPHA:93346
- Anauxetic dysplasia ORPHA:93347
- X-linked spondyloepimetaphyseal dysplasia ORPHA:93349
- Spondyloepimetaphyseal dysplasia, Irapa type ORPHA:93351
- Spondyloepimetaphyseal dysplasia, Shohat type ORPHA:93352
- Spondyloepimetaphyseal dysplasia, Missouri type ORPHA:93356
- SPONASTRIME dysplasia ORPHA:93357
- Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome ORPHA:93358
- Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type ORPHA:93360
- Spondyloepiphyseal dysplasia congenita ORPHA:94068
- Spondyloepimetaphyseal dysplasia, Handigodu type ORPHA:99642
- Spondyloepiphyseal dysplasia with metatarsal shortening ORPHA:137678
- Spondyloepimetaphyseal dysplasia, matrilin-3 type ORPHA:156728
- Dyssegmental dysplasia, Rolland-Desbuquois type ORPHA:156731
- SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome ORPHA:157965
- Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome ORPHA:163649
- Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome ORPHA:163654
- Spondyloepiphyseal dysplasia, Reardon type ORPHA:163662
- Spondyloepiphyseal dysplasia tarda, Kohn type ORPHA:163665
- Spondyloepiphyseal dysplasia, MacDermot type ORPHA:163668
- Autosomal dominant otospondylomegaepiphyseal dysplasia ORPHA:166100
- Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome ORPHA:168443
- Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome ORPHA:168451
- Spondyloepimetaphyseal dysplasia, Geneviève type ORPHA:168454
- Spondyloepimetaphyseal dysplasia, aggrecan type ORPHA:171866
- Smith-McCort dysplasia ORPHA:178355
- Spondylo-megaepiphyseal-metaphyseal dysplasia ORPHA:228387
- Spondyloepimetaphyseal dysplasia, Maroteaux type ORPHA:263482
- Roifman syndrome ORPHA:353298
- Spondyloepimetaphyseal dysplasia, Isidor-Toutain type ORPHA:370015
- Cono-spondylar dysplasia ORPHA:420794
- Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome ORPHA:436174
- EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity ORPHA:642085
- EVEN-plus syndrome ORPHA:496751
- Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome ORPHA:611207
- CODAS syndrome ORPHA:1458
- Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome ORPHA:457395
- X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome ORPHA:459070
- Spondyloepiphyseal dysplasia, Stanescu type ORPHA:459051
- Spondylometaphyseal dysplasia ORPHA:254
- Spondylometaphyseal dysplasia, A4 type ORPHA:168555
- Regressive spondylometaphyseal dysplasia ORPHA:448267
- Spondyloenchondrodysplasia ORPHA:1855
- Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome ORPHA:85167
- Spondylometaphyseal dysplasia, Kozlowski type ORPHA:93314
- Spondylometaphyseal dysplasia, 'corner fracture' type ORPHA:93315
- Spondylometaphyseal dysplasia, Schmidt type ORPHA:93316
- Odontochondrodysplasia ORPHA:166272
- Spondylometaphyseal dysplasia, Golden type ORPHA:168544
- Axial spondylometaphyseal dysplasia ORPHA:168549
- Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome ORPHA:168552
- Spondylometaphyseal dysplasia-corneal dystrophy syndrome ORPHA:589435
- Ciliopathies with major skeletal involvement ORPHA:93426
- Short rib-polydactyly syndrome ORPHA:1505
- Short rib-polydactyly syndrome type 5 ORPHA:498497
- Jeune syndrome ORPHA:474
- Ellis Van Creveld syndrome ORPHA:289
- Cranioectodermal dysplasia ORPHA:1515
- Short rib-polydactyly syndrome, Beemer-Langer type ORPHA:93268
- Short rib-polydactyly syndrome, Majewski type ORPHA:93269
- Short rib-polydactyly syndrome, Saldino-Noonan type ORPHA:93270
- Short rib-polydactyly syndrome, Verma-Naumoff type ORPHA:93271
- Joubert syndrome with Jeune asphyxiating thoracic dystrophy ORPHA:397715
- Thoracomelic dysplasia ORPHA:1803
- Orofaciodigital syndrome type 4 ORPHA:2753
- Thoracolaryngopelvic dysplasia ORPHA:3317
- Saldino-Mainzer syndrome ORPHA:140969
- NEK9-related lethal skeletal dysplasia ORPHA:464366
- Thoracic dysplasia-hydrocephalus syndrome ORPHA:1861
- Multiple epiphyseal dysplasia and pseudoachondroplasia ORPHA:93429
- Multiple epiphyseal dysplasia ORPHA:251
- Multiple epiphyseal dysplasia type 4 ORPHA:93307
- Multiple epiphyseal dysplasia type 1 ORPHA:93308
- Multiple epiphyseal dysplasia type 5 ORPHA:93311
- Multiple epiphyseal dysplasia due to collagen 9 anomaly ORPHA:166002
- Multiple epiphyseal dysplasia, Lowry type ORPHA:166016
- Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome ORPHA:166024
- Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome ORPHA:166029
- Multiple epiphyseal dysplasia-miniepiphyses syndrome ORPHA:166032
- Multiple epiphyseal dysplasia type 7 ORPHA:647676
- Lowry-Wood syndrome ORPHA:1824
- Pseudoachondroplasia ORPHA:750
- Autosomal recessive Stickler syndrome ORPHA:250984
- Multiple metaphyseal dysplasia ORPHA:93430
- Metaphyseal anadysplasia ORPHA:1040
- Metaphyseal chondrodysplasia, Schmid type ORPHA:174
- Metaphyseal chondrodysplasia, Rosenberg type ORPHA:1837
- Metaphyseal chondrodysplasia, Spahr type ORPHA:2501
- Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome ORPHA:2502
- Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome ORPHA:2504
- Cartilage-hair hypoplasia ORPHA:175
- Shwachman-Diamond syndrome ORPHA:811
- Metaphyseal chondrodysplasia, Jansen type ORPHA:33067
- Metaphyseal chondrodysplasia, Kaitila type ORPHA:166038
- Eiken syndrome ORPHA:79106
- Spondylodysplastic dysplasia ORPHA:93434
- SBDS-related severe neonatal spondylometaphyseal dysplasia ORPHA:622934
- Opsismodysplasia ORPHA:2746
- Achondrogenesis ORPHA:932
- Achondrogenesis type 2 ORPHA:93296
- Hypochondrogenesis ORPHA:93297
- Achondrogenesis type 1B ORPHA:93298
- Achondrogenesis type 1A ORPHA:93299
- Brachyolmia ORPHA:1293
- Autosomal recessive brachyolmia ORPHA:448242
- Brachyolmia-amelogenesis imperfecta syndrome ORPHA:2899
- Brachyolmia, Maroteaux type ORPHA:93302
- Autosomal dominant brachyolmia ORPHA:93304
- X-linked skeletal dysplasia-intellectual disability syndrome ORPHA:1436
- Schneckenbecken dysplasia ORPHA:3144
- Spondylocamptodactyly syndrome ORPHA:3180
- Spondylocarpotarsal synostosis ORPHA:3275
- Diaphanospondylodysostosis ORPHA:66637
- Platyspondylic dysplasia, Torrance type ORPHA:85166
- Spondylometaphyseal dysplasia, Sedaghatian type ORPHA:93317
- Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type ORPHA:401979
- Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome ORPHA:508533
- Acromelic dysplasia ORPHA:93436
- MIR140-related spondyloepiphyseal dysplasia ORPHA:623695
- Short stature-brachydactyly-obesity-global developmental delay syndrome ORPHA:464288
- Pseudohypoparathyroidism with Albright hereditary osteodystrophy ORPHA:457059
- Pseudohypoparathyroidism type 1A ORPHA:79443
- Pseudohypoparathyroidism type 1C ORPHA:79444
- Pseudopseudohypoparathyroidism ORPHA:79445
- Acrodysostosis ORPHA:950
- Acromicric dysplasia ORPHA:969
- Geleophysic dysplasia ORPHA:2623
- Intellectual disability-balding-patella luxation-acromicria syndrome ORPHA:3041
- Angel-shaped phalango-epiphyseal dysplasia ORPHA:63442
- Acrocapitofemoral dysplasia ORPHA:63446
- Craniofacial conodysplasia ORPHA:85168
- Terminal osseous dysplasia-pigmentary defects syndrome ORPHA:88630
- Trichorhinophalangeal syndrome ORPHA:324764
- Weill-Marchesani syndrome ORPHA:3449
- Myhre syndrome ORPHA:2588
- Acromesomelic dysplasia ORPHA:93437
- Acromesomelic dysplasia, Hunter-Thompson type ORPHA:968
- Acromesomelic dysplasia, Maroteaux type ORPHA:40
- Acromesomelic dysplasia, Grebe type ORPHA:2098
- Mesomelia-synostoses syndrome ORPHA:2496
- Fibular aplasia-complex brachydactyly syndrome ORPHA:2639
- Brachydactyly type A6 ORPHA:93382
- Mesomelic and rhizo-mesomelic dysplasia ORPHA:93438
- Léri-Weill dyschondrosteosis ORPHA:240
- Cleidorhizomelic syndrome ORPHA:1453
- Mesomelic dysplasia, Kantaputra type ORPHA:1836
- Fibrochondrogenesis ORPHA:2021
- Upper limb mesomelic dysplasia, type Fryns ORPHA:2497
- Mesomelic dwarfism-cleft palate-camptodactyly syndrome ORPHA:2631
- Langer mesomelic dysplasia ORPHA:2632
- Mesomelic dysplasia, Nievergelt type ORPHA:2633
- Mesomelic dwarfism, Reinhardt-Pfeiffer type ORPHA:2634
- Omodysplasia ORPHA:2733
- Rhizomelic syndrome, Urbach type ORPHA:3098
- Rhizomelic dysplasia, Patterson-Lowry type ORPHA:2831
- Atelosteogenesis type II ORPHA:56304
- Mesomelic dysplasia, Savarirayan type ORPHA:85170
- Robinow syndrome ORPHA:97360
- SHOX-related short stature ORPHA:314795
- Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome ORPHA:397623
- Colobomatous microphthalmia-rhizomelic dysplasia syndrome ORPHA:424099
- Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome ORPHA:440354
- X-linked dominant chondrodysplasia, Chassaing-Lacombe type ORPHA:163966
- EN1-related dorsoventral syndrome ORPHA:611223
- QRICH1-related intellectual disability-chondrodysplasia syndrome ORPHA:580940
- Mesomelic dysplasia-digital anomalies-intellectual disability syndrome ORPHA:632603
- Campomelic dysplasia and related disorders ORPHA:93439
- Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency ORPHA:656283
- Campomelic dysplasia ORPHA:140
- Campomelia, Cumming type ORPHA:1318
- Kyphomelic dysplasia ORPHA:1801
- Blount disease ORPHA:2768
- Weismann-Netter syndrome ORPHA:3344
- Stüve-Wiedemann syndrome ORPHA:3206
- FGFR2-related bent bone dysplasia ORPHA:313855
- Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome ORPHA:324307
- Slender bone dysplasia ORPHA:93440
- Kenny-Caffey syndrome ORPHA:2333
- Autosomal recessive Kenny-Caffey syndrome ORPHA:93324
- Autosomal dominant Kenny-Caffey syndrome ORPHA:93325
- 3M syndrome ORPHA:2616
- Osteocraniostenosis ORPHA:2763
- IMAGe syndrome ORPHA:85173
- Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome ORPHA:314394
- Ear-patella-short stature syndrome ORPHA:2554
- Thin ribs-tubular bones-dysmorphism syndrome ORPHA:1506
- Hallermann-Streiff syndrome ORPHA:2108
- Seckel syndrome ORPHA:808
- Microcephalic primordial dwarfism, Toriello type ORPHA:2643
- Microcephalic osteodysplastic primordial dwarfism type II ORPHA:2637
- Microcephalic osteodysplastic primordial dwarfism types I and III ORPHA:2636
- Microcephalic osteodysplastic dysplasia, Saul-Wilson type ORPHA:85172
- Hallermann-Streiff-like syndrome ORPHA:2109
- Lipodystrophy-intellectual disability-deafness syndrome ORPHA:50811
- DONSON-related microcephaly-short stature-limb abnormalities spectrum ORPHA:572761
- Primary bone dysplasia with multiple joint dislocations ORPHA:93441
- Larsen-like osseous dysplasia-short stature syndrome ORPHA:2370
- Atelosteogenesis type I ORPHA:1190
- Auriculoosteodysplasia ORPHA:114
- Boomerang dysplasia ORPHA:1263
- Desbuquois syndrome ORPHA:1425
- Coxoauricular syndrome ORPHA:1508
- Lethal Larsen-like syndrome ORPHA:2371
- Larsen syndrome ORPHA:503
- Atelosteogenesis type III ORPHA:56305
- Pseudodiastrophic dysplasia ORPHA:85174
- CHST3-related skeletal dysplasia ORPHA:263463
- Chondrodysplasia with joint dislocations, gPAPP type ORPHA:280586
- Larsen-like syndrome, B3GAT3 type ORPHA:284139
- Steel syndrome ORPHA:438117
- Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type ORPHA:93360
- Severe myopia-generalized joint laxity-short stature syndrome ORPHA:527450
- Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome ORPHA:589442
- Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type ORPHA:642099
- EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity ORPHA:642085
- Chondrodysplasia punctata ORPHA:93442
- Greenberg dysplasia ORPHA:1426
- CHILD syndrome ORPHA:139
- Rhizomelic chondrodysplasia punctata ORPHA:177
- Rhizomelic chondrodysplasia punctata type 3 ORPHA:309803
- Rhizomelic chondrodysplasia punctata type 1 ORPHA:309789
- Rhizomelic chondrodysplasia punctata type 2 ORPHA:309796
- Rhizomelic chondrodysplasia punctata type 5 ORPHA:468717
- Non-rhizomelic chondrodysplasia punctata ORPHA:176
- X-linked dominant chondrodysplasia punctata ORPHA:35173
- Brachytelephalangic chondrodysplasia punctata ORPHA:79345
- Chondrodysplasia punctata, tibial-metacarpal type ORPHA:79346
- Chondrodysplasia punctata, Toriello type ORPHA:79347
- Astley-Kendall dysplasia ORPHA:85175
- Keutel syndrome ORPHA:85202
- Primary bone dysplasia with increased bone density ORPHA:93444
- Juvenile Paget disease ORPHA:2801
- Camurati-Engelmann disease ORPHA:1328
- Craniodiaphyseal dysplasia ORPHA:1513
- Craniometaphyseal dysplasia ORPHA:1522
- Craniofacial dysostosis-diaphyseal hyperplasia syndrome ORPHA:1798
- Ghosal hematodiaphyseal dysplasia ORPHA:1802
- Lenz-Majewski hyperostotic dwarfism ORPHA:2658
- Oculodentodigital dysplasia ORPHA:2710
- Osteopathia striata-pigmentary dermopathy-white forelock syndrome ORPHA:2779
- Endosteal hyperostosis, Worth type ORPHA:2790
- Pyle disease ORPHA:3005
- Sclerosteosis ORPHA:3152
- Tricho-dento-osseous syndrome ORPHA:3352
- Hyperostosis corticalis generalisata ORPHA:3416
- Dysplastic cortical hyperostosis ORPHA:646139
- Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type ORPHA:2204
- Dysplastic cortical hyperostosis, Al-Gazali type ORPHA:646136
- Osteopetrosis and related disorders ORPHA:2781
- 12q14 microdeletion syndrome ORPHA:94063
- Isolated osteopoikilosis ORPHA:166119
- Osteopetrosis-hypogammaglobulinemia syndrome ORPHA:178389
- Intermediate osteopetrosis ORPHA:210110
- Albers-Schönberg osteopetrosis ORPHA:53
- Osteopetrosis with renal tubular acidosis ORPHA:2785
- Pycnodysostosis ORPHA:763
- Dysosteosclerosis ORPHA:1782
- Melorheostosis with osteopoikilosis ORPHA:1879
- Melorheostosis ORPHA:2485
- Osteomesopyknosis ORPHA:2777
- Osteopathia striata-cranial sclerosis syndrome ORPHA:2780
- Autosomal recessive malignant osteopetrosis ORPHA:667
- Autosomal dominant osteopetrosis type 1 ORPHA:2783
- Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome ORPHA:69088
- Infantile osteopetrosis with neuroaxonal dysplasia ORPHA:85179
- Leukocyte adhesion deficiency type III ORPHA:99844
- Osteosclerotic metaphyseal dysplasia ORPHA:500548
- Early-onset calcifying leukoencephalopathy-skeletal dysplasia ORPHA:556985
- Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome ORPHA:603494
- Osteosclerosis-ichthyosis-premature ovarian failure syndrome ORPHA:75325
- Diaphyseal medullary stenosis-bone malignancy syndrome ORPHA:85182
- Craniometadiaphyseal dysplasia, wormian bone type ORPHA:85184
- Endosteal sclerosis-cerebellar hypoplasia syndrome ORPHA:85186
- Metaphyseal dysplasia, Braun-Tinschert type ORPHA:85188
- Neonatal osteosclerotic dysplasia ORPHA:93443
- Caffey disease ORPHA:1310
- Osteosclerotic bone dysplasia ORPHA:1832
- Desmosterolosis ORPHA:35107
- Blomstrand lethal chondrodysplasia ORPHA:50945
- Primary hypertrophic osteoarthropathy ORPHA:248095
- High bone mass osteogenesis imperfecta ORPHA:314029
- Mixed sclerosing bone dystrophy with extra-skeletal manifestations ORPHA:324364
- X-linked calvarial hyperostosis ORPHA:391327
- Hyperostosis cranialis interna ORPHA:443098
- Primary bone dysplasia with decreased bone density ORPHA:93446
- Bruck syndrome ORPHA:2771
- Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome ORPHA:2772
- Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome ORPHA:2773
- Osteogenesis imperfecta ORPHA:666
- Osteogenesis imperfecta type 1 ORPHA:216796
- Osteogenesis imperfecta type 2 ORPHA:216804
- Osteogenesis imperfecta type 3 ORPHA:216812
- Osteogenesis imperfecta type 4 ORPHA:216820
- Osteogenesis imperfecta type 5 ORPHA:216828
- Cole-Carpenter syndrome ORPHA:2050
- Geroderma osteodysplastica ORPHA:2078
- Grant syndrome ORPHA:2097
- Osteopenia-intellectual disability-sparse hair syndrome ORPHA:2324
- Osteoporosis-oculocutaneous hypopigmentation syndrome ORPHA:2786
- Osteoporosis-pseudoglioma syndrome ORPHA:2788
- Complex lethal osteochondrodysplasia ORPHA:457378
- Gnathodiaphyseal dysplasia ORPHA:53697
- Singleton-Merten dysplasia ORPHA:85191
- Calvarial doughnut lesions-bone fragility syndrome ORPHA:85192
- Idiopathic juvenile osteoporosis ORPHA:85193
- Spondylo-ocular syndrome ORPHA:85194
- Autosomal recessive cutis laxa type 2 ORPHA:90350
- Autosomal recessive cutis laxa type 2A ORPHA:357058
- Autosomal recessive cutis laxa type 2B ORPHA:357064
- Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia ORPHA:166277
- Ehlers-Danlos/osteogenesis imperfecta syndrome ORPHA:230857
- TMEM165-CDG ORPHA:314667
- Chondroectodermal dysplasia with night blindness ORPHA:319195
- X-linked osteoporosis with fractures ORPHA:391330
- LRP5-related primary osteoporosis ORPHA:498481
- B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome ORPHA:536467
- Classical-like Ehlers-Danlos syndrome type 2 ORPHA:536532
- Primary bone dysplasia with defective bone mineralization ORPHA:93447
- Oculoskeletodental syndrome ORPHA:557003
- Hypophosphatasia ORPHA:436
- Perinatal lethal hypophosphatasia ORPHA:247623
- Prenatal benign hypophosphatasia ORPHA:247638
- Infantile hypophosphatasia ORPHA:247651
- Childhood-onset hypophosphatasia ORPHA:247667
- Adult hypophosphatasia ORPHA:247676
- Odontohypophosphatasia ORPHA:247685
- Neonatal severe primary hyperparathyroidism ORPHA:417
- Familial hypocalciuric hypercalcemia ORPHA:405
- Familial hypocalciuric hypercalcemia type 1 ORPHA:93372
- Familial hypocalciuric hypercalcemia type 2 ORPHA:101049
- Familial hypocalciuric hypercalcemia type 3 ORPHA:101050
- Lipodystrophy-intellectual disability-deafness syndrome ORPHA:50811
- Ossification anomalies-psychomotor developmental delay syndrome ORPHA:73230
- Eiken syndrome ORPHA:79106
- Disorders of vitamin D metabolism ORPHA:289098
- Hypophosphatemic rickets ORPHA:437
- Dent disease ORPHA:1652
- Cystinosis ORPHA:213
- Infantile nephropathic cystinosis ORPHA:411629
- Juvenile nephropathic cystinosis ORPHA:411634
- Ocular cystinosis ORPHA:411641
- Dominant hypophosphatemia with nephrolithiasis or osteoporosis ORPHA:244305
- X-linked hypophosphatemia ORPHA:89936
- Autosomal dominant hypophosphatemic rickets ORPHA:89937
- Hereditary hypophosphatemic rickets with hypercalciuria ORPHA:157215
- Autosomal recessive hypophosphatemic rickets ORPHA:289176
- Hypocalcemic rickets ORPHA:289103
- Familial calcium pyrophosphate deposition ORPHA:1416
- Primary osteolysis ORPHA:93449
- Mandibuloacral dysplasia associated to MTX2 ORPHA:647667
- Hyaline fibromatosis syndrome ORPHA:498474
- Hajdu-Cheney syndrome ORPHA:955
- Epiphyseal stippling-osteoclastic hyperplasia syndrome ORPHA:1952
- Mandibuloacral dysplasia ORPHA:2457
- Mandibuloacral dysplasia with type A lipodystrophy ORPHA:90153
- Mandibuloacral dysplasia with type B lipodystrophy ORPHA:90154
- Multicentric carpo-tarsal osteolysis with or without nephropathy ORPHA:2774
- Autosomal recessive distal osteolysis syndrome ORPHA:2776
- Hutchinson-Gilford progeria syndrome ORPHA:740
- Talo-patello-scaphoid osteolysis ORPHA:50809
- Familial expansile osteolysis ORPHA:85195
- Nestor-Guillermo progeria syndrome ORPHA:280576
- Phalangeal microgeodic syndrome ORPHA:352636
- Multicentric osteolysis-nodulosis-arthropathy spectrum ORPHA:371428
- Primary bone dysplasia with disorganized development of skeletal components ORPHA:93450
- Gorham-Stout disease ORPHA:73
- Nasu-Hakola disease ORPHA:2770
- Neurofibromatosis type 1 ORPHA:636
- 17q11 microdeletion syndrome ORPHA:97685
- Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion ORPHA:363700
- Fibrous dysplasia/McCune-Albright syndrome ORPHA:595216
- Cherubism ORPHA:184
- Dysplasia epiphysealis hemimelica ORPHA:1822
- Exostoses-anetodermia-brachydactyly type E syndrome ORPHA:1962
- Ollier disease ORPHA:296
- Metachondromatosis ORPHA:2499
- Osteoglosphonic dysplasia ORPHA:2645
- Carpotarsal osteochondromatosis ORPHA:2767
- Short stature, Brussels type ORPHA:2867
- Ramon syndrome ORPHA:3019
- Upington disease ORPHA:3408
- Multiple osteochondromas ORPHA:321
- Gnathodiaphyseal dysplasia ORPHA:53697
- Mazabraud syndrome ORPHA:57782
- Genochondromatosis type 1 ORPHA:85197
- Dysspondyloenchondromatosis ORPHA:85198
- Genochondromatosis type 2 ORPHA:93398
- Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria ORPHA:99646
- Maffucci syndrome ORPHA:163634
- Osteofibrous dysplasia ORPHA:488265
- Fibrodysplasia ossificans progressiva ORPHA:337
- Progressive osseous heteroplasia ORPHA:2762
- Cleidocranial dysplasia and isolated cranial ossification defect ORPHA:93451
- Parietal foramina with clavicular hypoplasia ORPHA:251290
- Cleidocranial dysplasia ORPHA:1452
- Delayed membranous cranial ossification ORPHA:3034
- Yunis-Varon syndrome ORPHA:3472
- Enlarged parietal foramina ORPHA:60015
- Craniosynostosis-anal anomalies-porokeratosis syndrome ORPHA:85199
- Lethal chondrodysplasia ORPHA:93465
- Bone dysplasia, lethal Holmgren type ORPHA:1842
- Lethal Kniest-like dysplasia ORPHA:2347
- Pyknoachondrogenesis ORPHA:3003
- Lethal recessive chondrodysplasia ORPHA:1423
- Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments ORPHA:364531
- Rare bone disease related to a common gene or pathway defect ORPHA:364803
- Proteoglycan-related bone disorder ORPHA:674499
- Schwartz-Jampel syndrome ORPHA:800
- Dyssegmental dysplasia, Silverman-Handmaker type ORPHA:1865
- Spondyloepiphyseal dysplasia, Kimberley type ORPHA:93283
- Spondyloepimetaphyseal dysplasia, aggrecan type ORPHA:171866
- Familial osteochondritis dissecans ORPHA:251262
- Short stature-advanced bone age-early-onset osteoarthritis syndrome ORPHA:435804
- FGFR3-related chondrodysplasia ORPHA:93420
- Achondroplasia ORPHA:15
- Hypochondroplasia ORPHA:429
- Thanatophoric dysplasia ORPHA:2655
- Camptodactyly-tall stature-scoliosis-hearing loss syndrome ORPHA:85164
- Severe achondroplasia-developmental delay-acanthosis nigricans syndrome ORPHA:85165
- Type 2 collagen-related bone disorder ORPHA:93421
- Spondyloepiphyseal dysplasia, Stanescu type ORPHA:459051
- Legg-Calvé-Perthes disease ORPHA:2380
- Autosomal recessive otospondylomegaepiphyseal dysplasia ORPHA:1427
- Kniest dysplasia ORPHA:485
- Spondyloperipheral dysplasia-short ulna syndrome ORPHA:1856
- Platyspondylic dysplasia, Torrance type ORPHA:85166
- Familial avascular necrosis of femoral head ORPHA:86820
- Stickler syndrome type 1 ORPHA:90653
- Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis ORPHA:93279
- Achondrogenesis type 2 ORPHA:93296
- Hypochondrogenesis ORPHA:93297
- Spondylometaphyseal dysplasia, 'corner fracture' type ORPHA:93315
- Spondylometaphyseal dysplasia, Schmidt type ORPHA:93316
- Spondyloepimetaphyseal dysplasia congenita, Strudwick type ORPHA:93346
- Spondyloepiphyseal dysplasia congenita ORPHA:94068
- Spondyloepiphyseal dysplasia with metatarsal shortening ORPHA:137678
- Type 11 collagen-related bone disorder ORPHA:93422
- Marshall syndrome ORPHA:560
- Autosomal recessive otospondylomegaepiphyseal dysplasia ORPHA:1427
- Fibrochondrogenesis ORPHA:2021
- Stickler syndrome type 2 ORPHA:90654
- Autosomal dominant otospondylomegaepiphyseal dysplasia ORPHA:166100
- Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome ORPHA:440354
- Sulfation-related bone disorder ORPHA:93423
- Diastrophic dysplasia ORPHA:628
- Atelosteogenesis type II ORPHA:56304
- Spondyloepimetaphyseal dysplasia, PAPSS2 type ORPHA:93282
- Achondrogenesis type 1B ORPHA:93298
- Multiple epiphyseal dysplasia type 4 ORPHA:93307
- Filamin-related bone disorder ORPHA:93425
- Atelosteogenesis type I ORPHA:1190
- Boomerang dysplasia ORPHA:1263
- Spondylocarpotarsal synostosis ORPHA:3275
- Larsen syndrome ORPHA:503
- Atelosteogenesis type III ORPHA:56305
- Terminal osseous dysplasia-pigmentary defects syndrome ORPHA:88630
- Otopalatodigital syndrome spectrum disorder ORPHA:364541
- TRPV4-related bone disorder ORPHA:364820
- Metatropic dysplasia ORPHA:2635
- Familial digital arthropathy-brachydactyly ORPHA:85169
- Autosomal dominant brachyolmia ORPHA:93304
- Spondylometaphyseal dysplasia, Kozlowski type ORPHA:93314
- Spondyloepimetaphyseal dysplasia, Maroteaux type ORPHA:263482
- Congenital disorder of glycosylation-related bone disorder ORPHA:371195
- Autosomal recessive spondylocostal dysostosis ORPHA:2311
- Schneckenbecken dysplasia ORPHA:3144
- Multiple osteochondromas ORPHA:321
- B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome ORPHA:75496
- Hyperphosphatasia-intellectual disability syndrome ORPHA:247262
- CHST3-related skeletal dysplasia ORPHA:263463
- COG1-CDG ORPHA:263508
- Larsen-like syndrome, B3GAT3 type ORPHA:284139
- TMEM165-CDG ORPHA:314667
- Autosomal recessive cutis laxa type 2A ORPHA:357058
- Temtamy preaxial brachydactyly syndrome ORPHA:363417
- Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome ORPHA:369837
- B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome ORPHA:536467
- Ciliopathies with major skeletal involvement ORPHA:93426
- Short rib-polydactyly syndrome ORPHA:1505
- Short rib-polydactyly syndrome type 5 ORPHA:498497
- Jeune syndrome ORPHA:474
- Ellis Van Creveld syndrome ORPHA:289
- Cranioectodermal dysplasia ORPHA:1515
- Short rib-polydactyly syndrome, Beemer-Langer type ORPHA:93268
- Short rib-polydactyly syndrome, Majewski type ORPHA:93269
- Short rib-polydactyly syndrome, Saldino-Noonan type ORPHA:93270
- Short rib-polydactyly syndrome, Verma-Naumoff type ORPHA:93271
- Joubert syndrome with Jeune asphyxiating thoracic dystrophy ORPHA:397715
- Thoracomelic dysplasia ORPHA:1803
- Orofaciodigital syndrome type 4 ORPHA:2753
- Thoracolaryngopelvic dysplasia ORPHA:3317
- Saldino-Mainzer syndrome ORPHA:140969
- NEK9-related lethal skeletal dysplasia ORPHA:464366
- Thoracic dysplasia-hydrocephalus syndrome ORPHA:1861
- Osteonecrosis of genetic origin ORPHA:399380
- Familial osteochondritis dissecans ORPHA:251262
- Avascular necrosis of genetic origin ORPHA:399388
- Familial avascular necrosis of femoral head ORPHA:86820
- Rare hereditary disease with avascular necrosis ORPHA:399185
- Sickle cell anemia ORPHA:232
- Gaucher disease type 1 ORPHA:77259
- Gaucher disease type 3 ORPHA:77261
- Rare hereditary thrombophilia ORPHA:217454
- Severe hereditary thrombophilia due to congenital protein S deficiency ORPHA:743
- Severe hereditary thrombophilia due to congenital protein C deficiency ORPHA:745
- Hereditary thrombophilia due to congenital antithrombin deficiency ORPHA:82
- Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency ORPHA:217467
- Osteochondrosis of genetic origin ORPHA:399391
- Dysostosis of genetic origin ORPHA:404568
- Craniosynostosis ORPHA:1531
- Non-syndromic craniosynostosis ORPHA:139390
- Non-syndromic unisutural craniosynostosis ORPHA:620096
- Non-syndromic unicoronal craniosynostosis ORPHA:620102
- Non-syndromic unilambdoid craniosynostosis ORPHA:620113
- Non-syndromic unifrontosphenoidal craniosynostosis ORPHA:620139
- Non-syndromic unisquamosal craniosynostosis ORPHA:620146
- Non-syndromic metopic craniosynostosis ORPHA:3366
- Non-syndromic sagittal craniosynostosis ORPHA:35093
- Non-syndromic multisutural craniosynostosis ORPHA:620152
- Non-syndromic non-specific multisutural craniosynostosis ORPHA:620158
- Non-syndromic bilambdoid craniosynostosis ORPHA:620178
- Non-syndromic unicoronal and sagittal craniosynostosis ORPHA:620186
- Non-syndromic metopic and sagittal craniosynostosis ORPHA:620192
- Non-syndromic bicoronal and metopic craniosynostosis ORPHA:620198
- Non-syndromic bicoronal and sagittal craniosynostosis ORPHA:620205
- Non-syndromic pansynostosis ORPHA:620212
- Non-syndromic bicoronal craniosynostosis ORPHA:35099
- Non-syndromic bilambdoid and sagittal craniosynostosis ORPHA:1516
- Syndromic craniosynostosis ORPHA:139393
- Crouzon syndrome ORPHA:207
- C syndrome ORPHA:1308
- Apert syndrome ORPHA:87
- Antley-Bixler syndrome ORPHA:83
- Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis ORPHA:63269
- Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis ORPHA:596008
- Baller-Gerold syndrome ORPHA:1225
- Cranioectodermal dysplasia ORPHA:1515
- Craniosynostosis, Philadelphia type ORPHA:1527
- Craniotelencephalic dysplasia ORPHA:1528
- Jackson-Weiss syndrome ORPHA:1540
- Curry-Jones syndrome ORPHA:1553
- Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome ORPHA:1555
- Craniosynostosis, Herrmann-Opitz type ORPHA:2145
- Holoprosencephaly-craniosynostosis syndrome ORPHA:2163
- Lowry-MacLean syndrome ORPHA:2409
- Shprintzen-Goldberg syndrome ORPHA:2462
- Cardiocranial syndrome, Pfeiffer type ORPHA:2872
- SCARF syndrome ORPHA:3134
- FGFR2-related bent bone dysplasia ORPHA:313855
- Trigonocephaly-broad thumbs syndrome ORPHA:3365
- Trigonocephaly-short stature-developmental delay syndrome ORPHA:3369
- X-linked intellectual disability-plagiocephaly syndrome ORPHA:2898
- Craniosynostosis, Boston type ORPHA:1541
- Craniomicromelic syndrome ORPHA:1524
- Craniosynostosis-intracranial calcifications syndrome ORPHA:52054
- Muenke syndrome ORPHA:53271
- Infantile hypophosphatasia ORPHA:247651
- Craniosynostosis-anal anomalies-porokeratosis syndrome ORPHA:85199
- Crouzon syndrome-acanthosis nigricans syndrome ORPHA:93262
- Cloverleaf skull-multiple congenital anomalies syndrome ORPHA:93267
- Prenatal benign hypophosphatasia ORPHA:247638
- Cloverleaf skull-asphyxiating thoracic dysplasia syndrome ORPHA:100978
- Familial scaphocephaly syndrome ORPHA:169163
- Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome ORPHA:1538
- Familial scaphocephaly syndrome, McGillivray type ORPHA:168624
- Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome ORPHA:171839
- Osteosclerosis-developmental delay-craniosynostosis syndrome ORPHA:178377
- Acrocephalopolydactyly ORPHA:221054
- Craniosynostosis-dental anomalies ORPHA:284149
- Lethal occipital encephalocele-skeletal dysplasia syndrome ORPHA:293925
- Childhood-onset hypophosphatasia ORPHA:247667
- Noonan syndrome ORPHA:648
- Mucopolysaccharidosis ORPHA:79213
- Hyaluronidase deficiency ORPHA:67041
- Mucopolysaccharidosis type 6 ORPHA:583
- Mucopolysaccharidosis type 6, rapidly progressing ORPHA:276212
- Mucopolysaccharidosis type 6, slowly progressing ORPHA:276223
- Mucopolysaccharidosis type 7 ORPHA:584
- Mucopolysaccharidosis type 2 ORPHA:580
- Mucopolysaccharidosis type 2, severe form ORPHA:217085
- Mucopolysaccharidosis type 2, attenuated form ORPHA:217093
- Mucopolysaccharidosis type 1 ORPHA:579
- Mucopolysaccharidosis type 3 ORPHA:581
- Sanfilippo syndrome type A ORPHA:79269
- Sanfilippo syndrome type B ORPHA:79270
- Sanfilippo syndrome type C ORPHA:79271
- Sanfilippo syndrome type D ORPHA:79272
- Mucopolysaccharidosis type 4 ORPHA:582
- Mucopolysaccharidosis type 10 ORPHA:662216
- Osteoglosphonic dysplasia ORPHA:2645
- Williams syndrome ORPHA:904
- Radioulnar synostosis-developmental delay-hypotonia syndrome ORPHA:3270
- Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome ORPHA:369837
- Craniofrontonasal dysplasia ORPHA:1520
- 3MC syndrome ORPHA:293843
- Thanatophoric dysplasia ORPHA:2655
- Pycnodysostosis ORPHA:763
- Coffin-Siris syndrome ORPHA:1465
- Acrocallosal syndrome ORPHA:36
- Dubowitz syndrome ORPHA:235
- Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome ORPHA:647681
- Craniosynostosis-microretrognathia-severe intellectual disability syndrome ORPHA:565858
- Craniosynostosis-facial dysmorphism-brachydactyly syndrome ORPHA:672979
- Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome ORPHA:672985
- KBG syndrome ORPHA:2332
- Koolen-De Vries syndrome ORPHA:96169
- 17q21.31 microdeletion syndrome ORPHA:363958
- Koolen-De Vries syndrome due to a point mutation ORPHA:363965
- Bohring-Opitz syndrome ORPHA:97297
- Fetal valproate spectrum disorder ORPHA:1906
- Pfeiffer syndrome ORPHA:710
- Pfeiffer syndrome type 1 ORPHA:93258
- Pfeiffer syndrome type 2 ORPHA:93259
- Pfeiffer syndrome type 3 ORPHA:93260
- Saethre-Chotzen syndrome ORPHA:794
- Carpenter syndrome ORPHA:65759
- Congenital pseudoarthrosis of the clavicle ORPHA:66630
- Dysostosis with predominant craniofacial involvement ORPHA:93453
- Cantú syndrome ORPHA:1517
- Oculomaxillofacial dysostosis ORPHA:1794
- Frontonasal dysplasia ORPHA:250
- SPECC1L-related hypertelorism syndrome ORPHA:1519
- Craniofrontonasal dysplasia ORPHA:1520
- Craniofrontonasal dysplasia-Poland anomaly syndrome ORPHA:1521
- Pai syndrome ORPHA:1993
- Frontofacionasal dysplasia ORPHA:1791
- Acromelic frontonasal dysplasia ORPHA:1827
- Frontonasal dysplasia-alopecia-genital anomalies syndrome ORPHA:228390
- Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome ORPHA:306542
- Frontorhiny ORPHA:391474
- Oculoauriculofrontonasal syndrome ORPHA:398156
- SIX2-related frontonasal dysplasia ORPHA:488437
- Craniorhiny ORPHA:157832
- Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome ORPHA:521308
- Oculoauriculovertebral spectrum with radial defects ORPHA:2549
- Familial osteodysplasia, Anderson type ORPHA:2769
- Teebi-Shaltout syndrome ORPHA:3291
- Craniofaciofrontodigital syndrome ORPHA:363705
- Otomandibular dysplasia ORPHA:155896
- Auriculocondylar syndrome ORPHA:137888
- Oculo-auriculo-vertebral spectrum ORPHA:141132
- Mandibulofacial dysostosis ORPHA:155899
- Treacher-Collins syndrome ORPHA:861
- Acrodysostosis ORPHA:950
- Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome ORPHA:357158
- Mandibulofacial dysostosis with alopecia ORPHA:443995
- Otomandibular dysplasia associated with monogenic syndromes ORPHA:156202
- Orofaciodigital syndrome ORPHA:140997
- Orofaciodigital syndrome type 1 ORPHA:2750
- Orofaciodigital syndrome type 2 ORPHA:2751
- Orofaciodigital syndrome type 4 ORPHA:2753
- Orofaciodigital syndrome type 6 ORPHA:2754
- Orofaciodigital syndrome type 8 ORPHA:2755
- Orofaciodigital syndrome type 5 ORPHA:2919
- Orofaciodigital syndrome type 11 ORPHA:141000
- Orofaciodigital syndrome type 9 ORPHA:141007
- Orofaciodigital syndrome type 14 ORPHA:434179
- Oral-facial-digital syndrome with short stature and brachymesophalangy ORPHA:508501
- Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome ORPHA:459061
- Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome ORPHA:314555
- Dobrow syndrome ORPHA:3262
- Dysostosis with predominant vertebral and costal involvement ORPHA:93454
- Autosomal recessive spondylocostal dysostosis ORPHA:2311
- Currarino syndrome ORPHA:1552
- Cerebrocostomandibular syndrome ORPHA:1393
- Cerebrofaciothoracic dysplasia ORPHA:1394
- Ankylosing vertebral hyperostosis with tylosis ORPHA:2206
- Melhem-Fahl syndrome ORPHA:2482
- Imperforate oropharynx-costovertebral anomalies syndrome ORPHA:2759
- Pelvic dysplasia-arthrogryposis of lower limbs syndrome ORPHA:2840
- Autosomal dominant spondylocostal dysostosis ORPHA:1797
- Wildervanck syndrome ORPHA:3456
- Progressive non-infectious anterior vertebral fusion ORPHA:2062
- Isolated Klippel-Feil syndrome ORPHA:2345
- Diaphanospondylodysostosis ORPHA:66637
- Camptodactyly-tall stature-scoliosis-hearing loss syndrome ORPHA:85164
- Horizontal gaze palsy with progressive scoliosis ORPHA:2744
- Tall stature-long halluces-multiple extra-epiphyses syndrome ORPHA:329191
- Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome ORPHA:447974
- Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders ORPHA:505248
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome ORPHA:453499
- Patellar dysostosis ORPHA:93455
- Nail-patella syndrome ORPHA:2614
- Coxopodopatellar syndrome ORPHA:1509
- Ear-patella-short stature syndrome ORPHA:2554
- Isolated patella aplasia/hypoplasia ORPHA:86789
- Familial clubfoot due to PITX1 point mutation ORPHA:293150
- KAT6B-related multiple congenital anomalies syndrome ORPHA:597749
- Dysostosis of genetic origin with limb anomaly as a major feature ORPHA:404571
- Otoonychoperoneal syndrome ORPHA:2793
- External auditory canal atresia-vertical talus-hypertelorism syndrome ORPHA:3023
- Dysostosis with brachydactyly ORPHA:69028
- Dysostosis with brachydactyly without extraskeletal manifestations ORPHA:498451
- Symbrachydactyly of hands and feet ORPHA:1570
- Brachydactyly-elbow wrist dysplasia syndrome ORPHA:1275
- Preaxial digit brachydactyly-webbed fingers ORPHA:633211
- Brachydactyly type A2 ORPHA:93396
- Brachydactyly type A4 ORPHA:93394
- Brachydactyly type A6 ORPHA:93382
- Brachydactyly type A7 ORPHA:93397
- Brachydactyly type B ORPHA:93383
- Sugarman brachydactyly ORPHA:498602
- Mononen-Karnes-Senac syndrome ORPHA:2565
- Familial digital arthropathy-brachydactyly ORPHA:85169
- Brachydactyly type A1 ORPHA:93388
- Brachydactyly type C ORPHA:93384
- Brachydactyly type E ORPHA:93387
- Cooks syndrome ORPHA:1487
- Camptobrachydactyly ORPHA:1319
- Dysostosis with brachydactyly with extraskeletal manifestations ORPHA:498454
- Brachydactyly-preaxial hallux varus syndrome ORPHA:1278
- Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies ORPHA:589608
- Brachydactyly-short stature-retinitis pigmentosa syndrome ORPHA:166035
- Mammary-digital-nail syndrome ORPHA:238744
- Rubinstein-Taybi syndrome ORPHA:783
- Rubinstein-Taybi syndrome due to CREBBP mutations ORPHA:353277
- Rubinstein-Taybi syndrome due to 16p13.3 microdeletion ORPHA:353281
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ORPHA:353284
- Coffin-Siris syndrome ORPHA:1465
- 2q37 microdeletion syndrome ORPHA:1001
- Hyperphosphatasia-intellectual disability syndrome ORPHA:247262
- Brachydactyly-arterial hypertension syndrome ORPHA:1276
- Temtamy preaxial brachydactyly syndrome ORPHA:363417
- Thumb stiffness-brachydactyly-intellectual disability syndrome ORPHA:1078
- Brachymorphism-onychodysplasia-dysphalangism syndrome ORPHA:1292
- Microcephaly-brachydactyly-kyphoscoliosis syndrome ORPHA:3433
- Feingold syndrome ORPHA:1305
- Hand-foot-genital syndrome ORPHA:2438
- Adams-Oliver syndrome ORPHA:974
- Brachytelephalangy-dysmorphism-Kallmann syndrome ORPHA:1295
- Poland syndrome ORPHA:2911
- Acrodysplasia scoliosis ORPHA:2956
- Ulnar/fibula ray defect-brachydactyly syndrome ORPHA:52056
- Skeletal dysplasia-epilepsy-short stature syndrome ORPHA:1858
- Brachydactyly-long thumb syndrome ORPHA:2946
- Non-syndromic limb reduction defect ORPHA:93457
- Non-syndromic longitudinal limb defect ORPHA:498457
- Non-syndromic hemimelia ORPHA:2130
- Isolated ulnar hemimelia ORPHA:93320
- Isolated radial hemimelia ORPHA:93321
- Isolated tibial hemimelia ORPHA:93322
- Isolated fibular hemimelia ORPHA:93323
- Isolated hypoplasia of thumb ORPHA:294988
- Non-syndromic terminal transverse limb defect ORPHA:498461
- Non-syndromic complete hemimelia ORPHA:498491
- Isolated absence of both forearm and hand ORPHA:294979
- Isolated absence of both lower leg and foot ORPHA:294981
- Isolated acheiria ORPHA:294983
- Isolated apodia ORPHA:294986
- Non-syndromic amelia ORPHA:294925
- Isolated amelia of upper limb ORPHA:294967
- Isolated amelia of lower limb ORPHA:294969
- Isolated tetra-amelia ORPHA:294971
- Isolated absence/hypoplasia of fingers excluding thumb, unilateral ORPHA:973
- Isolated acheiropodia ORPHA:931
- Non-syndromic intercalary limb defects ORPHA:294927
- Isolated humeral agenesis/hypoplasia ORPHA:294973
- Isolated absence of upper arm and forearm with hand present ORPHA:294975
- Isolated absence of thigh and lower leg with foot present ORPHA:294977
- Isolated femoral agenesis/hypoplasia ORPHA:1987
- Isolated proximal femoral focal deficiency ORPHA:633228
- Isolated congenital femoral bifurcation ORPHA:667589
- Non-syndromic polydactyly, syndactyly and/or hyperphalangy ORPHA:93458
- Non-syndromic polydactyly ORPHA:2913
- Non-syndromic preaxial polydactyly ORPHA:498464
- Polydactyly of a triphalangeal thumb ORPHA:93336
- Polydactyly of an index finger ORPHA:93337
- Polysyndactyly ORPHA:93338
- Polydactyly of a biphalangeal thumb and/or hallux ORPHA:93339
- Non-syndromic postaxial polydactyly ORPHA:498467
- Non-syndromic complex polydactyly ORPHA:498470
- Non-syndromic syndactyly ORPHA:90025
- Syndactyly type 8 ORPHA:2498
- Syndactyly type 1 ORPHA:93402
- Zygodactyly type 1 ORPHA:295187
- Zygodactyly type 2 ORPHA:295189
- Zygodactyly type 3 ORPHA:295191
- Zygodactyly type 4 ORPHA:295193
- Syndactyly type 2 ORPHA:93403
- Synpolydactyly type 1 ORPHA:295195
- Synpolydactyly type 2 ORPHA:295197
- Synpolydactyly type 3 ORPHA:295199
- Syndactyly type 3 ORPHA:93404
- Syndactyly type 4 ORPHA:93405
- Syndactyly type 5 ORPHA:93406
- Mesoaxial synostotic syndactyly with phalangeal reduction ORPHA:157801
- Syndactyly type 6 ORPHA:295012
- Isolated hyperphalangy ORPHA:295002
- Syndrome with synostosis or other joint formation defect ORPHA:93459
- B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome ORPHA:75496
- Banki syndrome ORPHA:1228
- Brachydactyly-elbow wrist dysplasia syndrome ORPHA:1275
- Tarsal-carpal coalition syndrome ORPHA:1412
- OSLAM syndrome ORPHA:2760
- Leri pleonosteosis ORPHA:2900
- Multiple synostoses syndrome ORPHA:3237
- Symphalangism with multiple anomalies of hands and feet ORPHA:3246
- Proximal symphalangism ORPHA:3250
- Radioulnar synostosis-microcephaly-scoliosis syndrome ORPHA:3268
- Radioulnar synostosis-developmental delay-hypotonia syndrome ORPHA:3270
- Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome ORPHA:71289
- WT limb-blood syndrome ORPHA:3466
- Isolated pseudoarthrosis of the limbs ORPHA:157808
- Congenital pseudoarthrosis of the tibia ORPHA:295018
- Congenital pseudoarthrosis of the femur ORPHA:295020
- Congenital pseudoarthrosis of the fibula ORPHA:295022
- Congenital pseudoarthrosis of the radius ORPHA:295024
- Congenital pseudoarthrosis of the ulna ORPHA:295026
- Familial clubfoot with or without associated lower limb anomalies ORPHA:199315
- Familial clubfoot due to 17q23.1q23.2 microduplication ORPHA:238578
- Familial clubfoot due to 5q31 microdeletion ORPHA:293144
- Familial clubfoot due to PITX1 point mutation ORPHA:293150
- Heart-hand syndrome ORPHA:228184
- Holt-Oram syndrome ORPHA:392
- Heart-hand syndrome type 3 ORPHA:1342
- Heart-hand syndrome type 2 ORPHA:1350
- Brachydactyly-long thumb syndrome ORPHA:2946
- Heart-hand syndrome, Slovenian type ORPHA:168796
- Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome ORPHA:228190
- Carney complex-trismus-pseudocamptodactyly syndrome ORPHA:319340
- Non-syndromic joint formation defects ORPHA:294949
- Isolated distal symphalangism ORPHA:3248
- Isolated humero-radial synostosis ORPHA:3265
- Isolated humero-radio-ulnar synostosis ORPHA:3266
- Isolated radio-ulnar synostosis ORPHA:3269
- Isolated humero-ulnar synostosis ORPHA:94056
- Isolated tibio-fibular synostosis ORPHA:295028
- Dysostosis with combined reduction defects of upper and lower limbs ORPHA:294957
- Fibular aplasia-ectrodactyly syndrome ORPHA:1118
- Radial deficiency-tibial hypoplasia syndrome ORPHA:1121
- Ulnar hypoplasia-split foot syndrome ORPHA:1122
- Gollop-Wolfgang complex ORPHA:1986
- Femur-fibula-ulna complex ORPHA:2019
- Tibial aplasia-ectrodactyly syndrome ORPHA:3329
- Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy ORPHA:294959
- Greig cephalopolysyndactyly-contiguous gene syndrome ORPHA:658805
- B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome ORPHA:567502
- Acropectoral syndrome ORPHA:85203
- Brachydactyly-syndactyly, Zhao type ORPHA:93409
- Syndactyly-telecanthus-anogenital and renal malformations syndrome ORPHA:140952
- Orofaciodigital syndrome ORPHA:140997
- Orofaciodigital syndrome type 1 ORPHA:2750
- Orofaciodigital syndrome type 2 ORPHA:2751
- Orofaciodigital syndrome type 4 ORPHA:2753
- Orofaciodigital syndrome type 6 ORPHA:2754
- Orofaciodigital syndrome type 8 ORPHA:2755
- Orofaciodigital syndrome type 5 ORPHA:2919
- Orofaciodigital syndrome type 11 ORPHA:141000
- Orofaciodigital syndrome type 9 ORPHA:141007
- Orofaciodigital syndrome type 14 ORPHA:434179
- Oral-facial-digital syndrome with short stature and brachymesophalangy ORPHA:508501
- Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome ORPHA:357332
- Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome ORPHA:369979
- Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ORPHA:420584
- Townes-Brocks syndrome ORPHA:857
- Meckel syndrome ORPHA:564
- Acrocallosal syndrome ORPHA:36
- Acropectorovertebral dysplasia ORPHA:957
- Scalp defects-postaxial polydactyly syndrome ORPHA:1003
- Aphalangy-syndactyly-microcephaly syndrome ORPHA:1113
- Catel-Manzke syndrome ORPHA:1388
- Craniosynostosis, Philadelphia type ORPHA:1527
- Dandy-Walker malformation-postaxial polydactyly syndrome ORPHA:1566
- Fibular dimelia-diplopodia syndrome ORPHA:1757
- Ectrodactyly-polydactyly syndrome ORPHA:1892
- Gollop-Wolfgang complex ORPHA:1986
- Greig cephalopolysyndactyly syndrome ORPHA:380
- Hallux varus-preaxial polysyndactyly syndrome ORPHA:2110
- Pallister-Hall syndrome ORPHA:672
- Lacrimoauriculodentodigital syndrome ORPHA:2363
- Laurin-Sandrow syndrome ORPHA:2378
- Fuhrmann syndrome ORPHA:2854
- Polydactyly-myopia syndrome ORPHA:2917
- Oliver syndrome ORPHA:2920
- Crossed polysyndactyly ORPHA:2935
- Triphalangeal thumbs-brachyectrodactyly syndrome ORPHA:2947
- Guttmacher syndrome ORPHA:2957
- Mirror polydactyly-vertebral segmentation-limbs defects syndrome ORPHA:3004
- Sillence syndrome ORPHA:3168
- Eyebrow duplication-syndactyly syndrome ORPHA:3172
- Symphalangism with multiple anomalies of hands and feet ORPHA:3246
- Filippi syndrome ORPHA:3255
- Cenani-Lenz syndrome ORPHA:3258
- Absent tibia-polydactyly-arachnoid cyst syndrome ORPHA:3328
- Syndactyly-polydactyly-ear lobe syndrome ORPHA:3259
- Smith-Lemli-Opitz syndrome ORPHA:818
- Split hand-split foot-deafness syndrome ORPHA:71271
- FATCO syndrome ORPHA:2492
- Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome ORPHA:476119
- Split-foot malformation-mesoaxial polydactyly syndrome ORPHA:488232
- Bipartite talus ORPHA:364198
- Dysostosis with limb and face anomalies as a major feature ORPHA:364571
- Oromandibular-limb hypogenesis syndrome ORPHA:2749
- Charlie M syndrome ORPHA:1406
- Hypoglossia-hypodactyly syndrome ORPHA:989
- Glossopalatine ankylosis ORPHA:141163
- Endocrine-cerebro-osteodysplasia syndrome ORPHA:199332
- Acrofacial dysostosis ORPHA:364574
- Nager syndrome ORPHA:245
- Postaxial acrofacial dysostosis ORPHA:246
- Acrocraniofacial dysostosis ORPHA:949
- Acrofacial dysostosis, Weyers type ORPHA:952
- X-linked mandibulofacial dysostosis ORPHA:1131
- Craniofrontonasal dysplasia ORPHA:1520
- Acrofrontofacionasal dysostosis ORPHA:1784
- Acrofacial dysostosis, Catania type ORPHA:1786
- Acrofacial dysostosis, Rodríguez type ORPHA:1788
- Patterson-Stevenson-Fontaine syndrome ORPHA:2439
- Acromelic frontonasal dysplasia ORPHA:1827
- Acrofacial dysostosis, Palagonia type ORPHA:1787
- Acrofacial dysostosis, Kennedy-Teebi type ORPHA:64542
- Mandibulofacial dysostosis-microcephaly syndrome ORPHA:79113
- Richieri Costa-Pereira syndrome ORPHA:3102
- Genetic syndrome with limb reduction defects ORPHA:404574
- Intellectual disability-spasticity-ectrodactyly syndrome ORPHA:1891
- Holt-Oram syndrome ORPHA:392
- Camptodactyly syndrome, Guadalajara type 2 ORPHA:1326
- FATCO syndrome ORPHA:2492
- Mammary-digital-nail syndrome ORPHA:238744
- Thrombocythemia with distal limb defects ORPHA:329319
- Cornelia de Lange syndrome ORPHA:199
- Thrombocytopenia-absent radius syndrome ORPHA:3320
- Fanconi anemia ORPHA:84
- Roberts syndrome ORPHA:3103
- Adams-Oliver syndrome ORPHA:974
- ADULT syndrome ORPHA:978
- Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome ORPHA:988
- Hypoglossia-hypodactyly syndrome ORPHA:989
- Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome ORPHA:1071
- Ankyloblepharon filiforme adnatum-cleft palate syndrome ORPHA:1072
- Ankyloblepharon filiforme adnatum-imperforate anus syndrome ORPHA:1074
- Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome ORPHA:1112
- Aphalangy-syndactyly-microcephaly syndrome ORPHA:1113
- Lethal faciocardiomelic dysplasia ORPHA:1972
- Gollop-Wolfgang complex ORPHA:1986
- Femoral-facial syndrome ORPHA:1988
- Splenogonadal fusion-limb defects-micrognathia syndrome ORPHA:2063
- Ulna hypoplasia-intellectual disability syndrome ORPHA:2249
- IVIC syndrome ORPHA:2307
- Absence deformity of leg-cataract syndrome ORPHA:2310
- Karsch-Neugebauer syndrome ORPHA:2329
- Tetramelic monodactyly ORPHA:2564
- Fibular aplasia-complex brachydactyly syndrome ORPHA:2639
- Postaxial tetramelic oligodactyly ORPHA:2730
- Pelvis-shoulder dysplasia ORPHA:2839
- Fuhrmann syndrome ORPHA:2854
- Phocomelia, Schinzel type ORPHA:2879
- Radio-renal syndrome ORPHA:3015
- Absent radius-anogenital anomalies syndrome ORPHA:3016
- RAPADILINO syndrome ORPHA:3021
- Ulnar-mammary syndrome ORPHA:3138
- Tetraamelia-multiple malformations syndrome ORPHA:3301
- Absent tibia-polydactyly-arachnoid cyst syndrome ORPHA:3328
- Tibial aplasia-ectrodactyly syndrome ORPHA:3329
- Humerus trochlea aplasia ORPHA:3383
- Split hand-split foot-deafness syndrome ORPHA:71271
- Okihiro syndrome ORPHA:93293
- Okihiro syndrome due to 20q13 microdeletion ORPHA:261638
- Okihiro syndrome due to a point mutation ORPHA:261647
- Pelviscapular dysplasia ORPHA:93333
- Heart defects-limb shortening syndrome ORPHA:1354
- Combined immunodeficiency with facio-oculo-skeletal anomalies ORPHA:221139
- Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome ORPHA:496693
- Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome ORPHA:508542
- Split-foot malformation-mesoaxial polydactyly syndrome ORPHA:488232
- Ectrodactyly with and without other manifestations ORPHA:498477
- EEM syndrome ORPHA:1897
- Limb-mammary syndrome ORPHA:69085
- Fibular aplasia-ectrodactyly syndrome ORPHA:1118
- Ectrodactyly-polydactyly syndrome ORPHA:1892
- Charlie M syndrome ORPHA:1406
- Gollop-Wolfgang complex ORPHA:1986
- Patterson-Stevenson-Fontaine syndrome ORPHA:2439
- EEC syndrome ORPHA:1896
- ADULT syndrome ORPHA:978
- Hartsfield syndrome ORPHA:2117
- Isolated split hand-split foot malformation ORPHA:2440
- Tibial aplasia-ectrodactyly syndrome ORPHA:3329
- Camptodactyly syndrome, Guadalajara type 3 ORPHA:488434
- Rare genetic developmental defect during embryogenesis ORPHA:183530
- Pericardial and diaphragmatic defect ORPHA:2847
- Malformation syndrome with hamartosis ORPHA:98196
- Von Hippel-Lindau disease ORPHA:892
- Gorlin syndrome ORPHA:377
- Peutz-Jeghers syndrome ORPHA:2869
- Hereditary hemorrhagic telangiectasia ORPHA:774
- Dyskeratosis congenita ORPHA:1775
- Angioosteohypertrophic syndrome ORPHA:2346
- Linear nevus sebaceus syndrome ORPHA:2612
- Sturge-Weber syndrome ORPHA:3205
- Tuberous sclerosis complex ORPHA:805
- Neurofibromatosis-Noonan syndrome ORPHA:638
- Noonan syndrome with multiple lentigines ORPHA:500
- Hereditary neurocutaneous malformation ORPHA:1062
- Focal dermal hypoplasia ORPHA:2092
- Ollier disease ORPHA:296
- Phakomatosis pigmentokeratotica ORPHA:2874
- Phakomatosis pigmentovascularis ORPHA:2875
- Phakomatosis cesioflammea ORPHA:79483
- Phakomatosis cesiomarmorata ORPHA:79484
- Phakomatosis spilorosea ORPHA:79485
- Becker nevus syndrome ORPHA:64755
- Gardner syndrome ORPHA:79665
- Full schwannomatosis ORPHA:93921
- Maffucci syndrome ORPHA:163634
- Hemihyperplasia-multiple lipomatosis syndrome ORPHA:276280
- PTEN hamartoma tumor syndrome ORPHA:306498
- Developmental anomaly of metabolic origin ORPHA:139009
- Multiple sulfatase deficiency ORPHA:585
- Fabry disease ORPHA:324
- Hypophosphatasia ORPHA:436
- Perinatal lethal hypophosphatasia ORPHA:247623
- Prenatal benign hypophosphatasia ORPHA:247638
- Infantile hypophosphatasia ORPHA:247651
- Childhood-onset hypophosphatasia ORPHA:247667
- Adult hypophosphatasia ORPHA:247676
- Odontohypophosphatasia ORPHA:247685
- Homocystinuria due to cystathionine beta-synthase deficiency ORPHA:394
- Zellweger syndrome ORPHA:912
- Encephalopathy due to sulfite oxidase deficiency ORPHA:833
- Isolated sulfite oxidase deficiency ORPHA:99731
- Sulfite oxidase deficiency due to molybdenum cofactor deficiency ORPHA:99732
- Infantile Refsum disease ORPHA:772
- Sterol biosynthesis disorder ORPHA:79195
- Microcephaly-congenital cataract-psoriasiform dermatitis syndrome ORPHA:488168
- Greenberg dysplasia ORPHA:1426
- CHILD syndrome ORPHA:139
- Smith-Lemli-Opitz syndrome ORPHA:818
- Desmosterolosis ORPHA:35107
- X-linked dominant chondrodysplasia punctata ORPHA:35173
- Lathosterolosis ORPHA:46059
- Mevalonate kinase deficiency ORPHA:309025
- MEND syndrome ORPHA:401973
- CK syndrome ORPHA:251383
- Mucolipidosis ORPHA:79212
- Mucopolysaccharidosis ORPHA:79213
- Hyaluronidase deficiency ORPHA:67041
- Mucopolysaccharidosis type 6 ORPHA:583
- Mucopolysaccharidosis type 6, rapidly progressing ORPHA:276212
- Mucopolysaccharidosis type 6, slowly progressing ORPHA:276223
- Mucopolysaccharidosis type 7 ORPHA:584
- Mucopolysaccharidosis type 2 ORPHA:580
- Mucopolysaccharidosis type 2, severe form ORPHA:217085
- Mucopolysaccharidosis type 2, attenuated form ORPHA:217093
- Mucopolysaccharidosis type 1 ORPHA:579
- Mucopolysaccharidosis type 3 ORPHA:581
- Sanfilippo syndrome type A ORPHA:79269
- Sanfilippo syndrome type B ORPHA:79270
- Sanfilippo syndrome type C ORPHA:79271
- Sanfilippo syndrome type D ORPHA:79272
- Mucopolysaccharidosis type 4 ORPHA:582
- Mucopolysaccharidosis type 10 ORPHA:662216
- Oligosaccharidosis ORPHA:79215
- Alpha-mannosidosis ORPHA:61
- Aspartylglucosaminuria ORPHA:93
- Beta-mannosidosis ORPHA:118
- Fucosidosis ORPHA:349
- Galactosialidosis ORPHA:351
- Alpha-N-acetylgalactosaminidase deficiency ORPHA:3137
- Alpha-N-acetylgalactosaminidase deficiency type 1 ORPHA:79279
- Alpha-N-acetylgalactosaminidase deficiency type 2 ORPHA:79280
- Alpha-N-acetylgalactosaminidase deficiency type 3 ORPHA:79281
- Sialidosis ORPHA:309294
- Pseudohypoparathyroidism ORPHA:97593
- Pseudohypoparathyroidism without Albright hereditary osteodystrophy ORPHA:457062
- Pseudohypoparathyroidism with Albright hereditary osteodystrophy ORPHA:457059
- CADDS ORPHA:369942
- Congenital disorder of glycosylation with developmental anomaly ORPHA:371235
- Congenital muscular dystrophy, Fukuyama type ORPHA:272
- Walker-Warburg syndrome ORPHA:899
- Muscle-eye-brain disease ORPHA:588
- B4GALT1-CDG ORPHA:79332
- Multiple congenital anomalies-hypotonia-seizures syndrome ORPHA:280633
- Multiple congenital anomalies-hypotonia-seizures syndrome type 2 ORPHA:300496
- SLC35A2-CDG ORPHA:356961
- XYLT1-CDG ORPHA:370930
- Autism spectrum disorder-epilepsy-arthrogryposis syndrome ORPHA:370943
- Congenital disorder of glycosylation with cardiac malformation as a major feature ORPHA:371183
- Peters plus syndrome ORPHA:709
- Musculocontractural Ehlers-Danlos syndrome ORPHA:2953
- CHIME syndrome ORPHA:3474
- MGAT2-CDG ORPHA:79329
- COG7-CDG ORPHA:79333
- Larsen-like syndrome, B3GAT3 type ORPHA:284139
- Congenital disorder of glycosylation-related bone disorder ORPHA:371195
- Autosomal recessive spondylocostal dysostosis ORPHA:2311
- Schneckenbecken dysplasia ORPHA:3144
- Multiple osteochondromas ORPHA:321
- B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome ORPHA:75496
- Hyperphosphatasia-intellectual disability syndrome ORPHA:247262
- CHST3-related skeletal dysplasia ORPHA:263463
- COG1-CDG ORPHA:263508
- Larsen-like syndrome, B3GAT3 type ORPHA:284139
- TMEM165-CDG ORPHA:314667
- Autosomal recessive cutis laxa type 2A ORPHA:357058
- Temtamy preaxial brachydactyly syndrome ORPHA:363417
- Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome ORPHA:369837
- B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome ORPHA:536467
- Congenital disorder of glycosylation with deafness as a major feature ORPHA:371212
- Rare developmental defect with skin/mucosae involvement ORPHA:139027
- Ehlers-Danlos/osteogenesis imperfecta syndrome ORPHA:230857
- Ataxia-telangiectasia ORPHA:100
- Hereditary hemorrhagic telangiectasia ORPHA:774
- Costello syndrome ORPHA:3071
- Cockayne syndrome ORPHA:191
- COFS syndrome ORPHA:1466
- Cockayne syndrome type 1 ORPHA:90321
- Cockayne syndrome type 2 ORPHA:90322
- Cockayne syndrome type 3 ORPHA:90324
- Waardenburg syndrome ORPHA:3440
- Waardenburg syndrome type 1 ORPHA:894
- Waardenburg syndrome type 2 ORPHA:895
- Waardenburg syndrome type 3 ORPHA:896
- Werner syndrome ORPHA:902
- Bazex-Dupré-Christol syndrome ORPHA:113
- Noonan syndrome with multiple lentigines ORPHA:500
- Acrodermatitis enteropathica ORPHA:37
- Aplasia cutis congenita-intestinal lymphangiectasia syndrome ORPHA:1116
- Aplasia cutis-myopia syndrome ORPHA:1117
- Ascher syndrome ORPHA:1253
- Restrictive dermopathy ORPHA:1662
- Infantile systemic hyalinosis ORPHA:2176
- CHILD syndrome ORPHA:139
- Ichthyosis-oral and digital anomalies syndrome ORPHA:2272
- Ichthyosis follicularis-alopecia-photophobia syndrome ORPHA:2273
- Pachyonychia congenita ORPHA:2309
- Microphthalmia with linear skin defects syndrome ORPHA:2556
- Hutchinson-Gilford progeria syndrome ORPHA:740
- Progeria-short stature-pigmented nevi syndrome ORPHA:2959
- Wiedemann-Rautenstrauch syndrome ORPHA:3455
- Xeroderma pigmentosum ORPHA:910
- Cutis laxa ORPHA:209
- Geroderma osteodysplastica ORPHA:2078
- De Barsy syndrome ORPHA:2962
- SCARF syndrome ORPHA:3134
- Arterial tortuosity syndrome ORPHA:3342
- Occipital horn syndrome ORPHA:198
- Autosomal dominant cutis laxa ORPHA:90348
- Autosomal recessive cutis laxa type 1 ORPHA:90349
- Autosomal recessive cutis laxa type 2 ORPHA:90350
- Autosomal recessive cutis laxa type 2A ORPHA:357058
- Autosomal recessive cutis laxa type 2B ORPHA:357064
- RIN2 syndrome ORPHA:217335
- Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies ORPHA:221145
- Craniofaciofrontodigital syndrome ORPHA:363705
- Lethal arteriopathy syndrome due to fibulin-4 deficiency ORPHA:314718
- Familial articular hypermobility syndrome ORPHA:2295
- Pseudoxanthoma elasticum ORPHA:758
- Epidermolysis bullosa simplex with muscular dystrophy ORPHA:257
- Junctional epidermolysis bullosa ORPHA:305
- Laryngo-onycho-cutaneous syndrome ORPHA:2407
- Junctional epidermolysis bullosa with pyloric atresia ORPHA:79403
- Severe generalized junctional epidermolysis bullosa ORPHA:79404
- Junctional epidermolysis bullosa inversa ORPHA:79405
- Late-onset junctional epidermolysis bullosa ORPHA:79406
- Localized junctional epidermolysis bullosa ORPHA:251393
- Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome ORPHA:231556
- Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome ORPHA:306504
- Intermediate generalized junctional epidermolysis bullosa ORPHA:79402
- Dystrophic epidermolysis bullosa ORPHA:303
- Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form ORPHA:79408
- Recessive dystrophic epidermolysis bullosa inversa ORPHA:79409
- Localized dystrophic epidermolysis bullosa ORPHA:595356
- Localized dystrophic epidermolysis bullosa, pretibial form ORPHA:79410
- Localized dystrophic epidermolysis bullosa, acral form ORPHA:158673
- Localized dystrophic epidermolysis bullosa, nails only ORPHA:158676
- Self-improving dystrophic epidermolysis bullosa ORPHA:79411
- Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form ORPHA:89842
- Dystrophic epidermolysis bullosa pruriginosa ORPHA:89843
- Autosomal dominant generalized dystrophic epidermolysis bullosa ORPHA:231568
- Lipoid proteinosis ORPHA:530
- Neuroectodermal melanolysosomal disease ORPHA:33445
- Isolated congenital anonychia ORPHA:79143
- Ectodermal dysplasia syndrome ORPHA:79373
- Arthrogryposis-ectodermal dysplasia syndrome ORPHA:3200
- Ellis Van Creveld syndrome ORPHA:289
- Incontinentia pigmenti ORPHA:464
- Dubowitz syndrome ORPHA:235
- Dyskeratosis congenita ORPHA:1775
- KID syndrome ORPHA:477
- Marshall syndrome ORPHA:560
- Hidrotic ectodermal dysplasia ORPHA:189
- Amelocerebrohypohidrotic syndrome ORPHA:1946
- Acrofacial dysostosis, Weyers type ORPHA:952
- Alopecia-contractures-dwarfism-intellectual disability syndrome ORPHA:1005
- Autosomal dominant palmoplantar keratoderma and congenital alopecia ORPHA:1010
- Amelo-onycho-hypohidrotic syndrome ORPHA:1028
- Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome ORPHA:1071
- Ankyloblepharon filiforme adnatum-cleft palate syndrome ORPHA:1072
- Ankyloblepharon filiforme adnatum-imperforate anus syndrome ORPHA:1074
- AREDYLD syndrome ORPHA:1133
- Cerebellar ataxia-ectodermal dysplasia syndrome ORPHA:1174
- Bartsocas-Papas syndrome ORPHA:1234
- Böök syndrome ORPHA:1262
- Tricho-retino-dento-digital syndrome ORPHA:1264
- Cardiofaciocutaneous syndrome ORPHA:1340
- Autosomal recessive palmoplantar keratoderma and congenital alopecia ORPHA:1366
- Cataract-hypertrichosis-intellectual disability syndrome ORPHA:1375
- Choroidal atrophy-alopecia syndrome ORPHA:1433
- Contractures-ectodermal dysplasia-cleft lip/palate syndrome ORPHA:1484
- Cranioectodermal dysplasia ORPHA:1515
- Dahlberg-Borer-Newcomer syndrome ORPHA:1563
- Hypotrichosis with juvenile macular degeneration ORPHA:1573
- Dermatoosteolysis, Kirghizian type ORPHA:1657
- Dermoodontodysplasia ORPHA:1660
- Barber-Say syndrome ORPHA:1231
- Thumb deformity-alopecia-pigmentation anomaly syndrome ORPHA:2251
- Ectodermal dysplasia-blindness syndrome ORPHA:1806
- Hidrotic ectodermal dysplasia, Christianson-Fourie type ORPHA:1808
- Hidrotic ectodermal dysplasia, Halal type ORPHA:1809
- Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome ORPHA:1812
- Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome ORPHA:1882
- Ectodermal dysplasia-sensorineural deafness syndrome ORPHA:1883
- Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome ORPHA:1816
- Ectodermal dysplasia, trichoodontoonychial type ORPHA:1818
- EEM syndrome ORPHA:1897
- Blepharo-cheilo-odontic syndrome ORPHA:1997
- Gingival fibromatosis-hypertrichosis syndrome ORPHA:2026
- Scalp-ear-nipple syndrome ORPHA:2036
- GAPO syndrome ORPHA:2067
- Focal dermal hypoplasia ORPHA:2092
- Gorlin-Chaudhry-Moss syndrome ORPHA:2095
- Hallermann-Streiff syndrome ORPHA:2108
- Hypertrichosis cubiti ORPHA:2220
- Hypertrichosis lanuginosa congenita ORPHA:2222
- Congenital generalized hypertrichosis, Ambras type ORPHA:1023
- X-linked congenital generalized hypertrichosis ORPHA:79495
- Hypodontia-dysplasia of nails syndrome ORPHA:2228
- Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome ORPHA:2269
- Johanson-Blizzard syndrome ORPHA:2315
- Johnson neuroectodermal syndrome ORPHA:2316
- Pyramidal molars-abnormal upper lip syndrome ORPHA:2561
- Oculodentodigital dysplasia ORPHA:2710
- Oculoosteocutaneous syndrome ORPHA:2713
- Oculotrichodysplasia ORPHA:2718
- Odonto-onycho-dermal dysplasia ORPHA:2721
- Odonto-onycho dysplasia-alopecia syndrome ORPHA:2722
- Odontotrichomelic syndrome ORPHA:2723
- Orofaciodigital syndrome type 1 ORPHA:2750
- Papillon-Lefèvre syndrome ORPHA:678
- Pili torti-onychodysplasia syndrome ORPHA:2890
- Pilodental dysplasia-refractive errors syndrome ORPHA:2892
- Corneodermatoosseous syndrome ORPHA:3194
- Deafness-enamel hypoplasia-nail defects syndrome ORPHA:3220
- Deafness-onychodystrophy syndrome ORPHA:3231
- Conductive deafness-ptosis-skeletal anomalies syndrome ORPHA:3236
- Teebi-Shaltout syndrome ORPHA:3291
- Oculoectodermal syndrome ORPHA:3339
- Trichodental syndrome ORPHA:3351
- Tricho-dento-osseous syndrome ORPHA:3352
- Trichodermodysplasia-dental alterations syndrome ORPHA:3353
- Trichoodontoonychial dysplasia ORPHA:3355
- Trichomegaly-retina pigmentary degeneration-dwarfism syndrome ORPHA:3363
- CHIME syndrome ORPHA:3474
- Cartilage-hair hypoplasia ORPHA:175
- Trichothiodystrophy ORPHA:33364
- Schöpf-Schulz-Passarge syndrome ORPHA:50944
- Carvajal syndrome ORPHA:65282
- Odonto-tricho-ungual-digito-palmar syndrome ORPHA:69082
- Ectodermal dysplasia with natal teeth, Turnpenny type ORPHA:69083
- Pure hair and nail ectodermal dysplasia ORPHA:69084
- Naegeli-Franceschetti-Jadassohn syndrome ORPHA:69087
- Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome ORPHA:69088
- Anonychia with flexural pigmentation ORPHA:69125
- Trichodysplasia-amelogenesis imperfecta syndrome ORPHA:79129
- Dermatopathia pigmentosa reticularis ORPHA:86920
- EEC syndrome and related disorders ORPHA:98609
- ADULT syndrome ORPHA:978
- EEC syndrome ORPHA:1896
- Lacrimoauriculodentodigital syndrome ORPHA:2363
- Limb-mammary syndrome ORPHA:69085
- Fried's tooth and nail syndrome ORPHA:99672
- Dermotrichic syndrome ORPHA:99688
- Lelis syndrome ORPHA:140936
- Ectodermal dysplasia-skin fragility syndrome ORPHA:158668
- Hypohidrotic ectodermal dysplasia ORPHA:238468
- X-linked hypohidrotic ectodermal dysplasia ORPHA:181
- Autosomal recessive hypohidrotic ectodermal dysplasia ORPHA:248
- Autosomal dominant hypohidrotic ectodermal dysplasia ORPHA:1810
- Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome ORPHA:247820
- Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome ORPHA:247827
- Curly hair-acral keratoderma-caries syndrome ORPHA:307766
- Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome ORPHA:307936
- Chondroectodermal dysplasia with night blindness ORPHA:319195
- Cleft lip/palate-ectodermal dysplasia syndrome ORPHA:3253
- Trichorhinophalangeal syndrome ORPHA:324764
- Focal facial dermal dysplasia ORPHA:398166
- Focal facial dermal dysplasia type III ORPHA:1807
- Focal facial dermal dysplasia type I ORPHA:79133
- Focal facial dermal dysplasia type II ORPHA:398173
- Focal facial dermal dysplasia type IV ORPHA:398189
- Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome ORPHA:423454
- CHAND syndrome ORPHA:1401
- Hallermann-Streiff-like syndrome ORPHA:2109
- Skin fragility-woolly hair-palmoplantar keratoderma syndrome ORPHA:293165
- Hypotrichosis-intellectual disability, Lopes type ORPHA:2266
- Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome ORPHA:447961
- Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome ORPHA:685067
- Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies ORPHA:589608
- Hypohidrotic ectodermal dysplasia with immunodeficiency ORPHA:98813
- Ehlers-Danlos syndrome ORPHA:98249
- Classical Ehlers-Danlos syndrome ORPHA:287
- Musculocontractural Ehlers-Danlos syndrome ORPHA:2953
- Hypermobile Ehlers-Danlos syndrome ORPHA:285
- Vascular Ehlers-Danlos syndrome ORPHA:286
- Kyphoscoliotic Ehlers-Danlos syndrome ORPHA:536545
- Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency ORPHA:1900
- Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency ORPHA:300179
- Arthrochalasia Ehlers-Danlos syndrome ORPHA:1899
- Dermatosparaxis Ehlers-Danlos syndrome ORPHA:1901
- Periodontal Ehlers-Danlos syndrome ORPHA:75392
- Spondylodysplastic Ehlers-Danlos syndrome ORPHA:536471
- B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome ORPHA:75496
- B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome ORPHA:536467
- SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome ORPHA:157965
- X-linked Ehlers-Danlos syndrome ORPHA:75497
- Brittle cornea syndrome ORPHA:90354
- Myopathic Ehlers-Danlos syndrome ORPHA:536516
- Classical-like Ehlers-Danlos syndrome type 1 ORPHA:230839
- Cardiac-valvular Ehlers-Danlos syndrome ORPHA:230851
- Classical-like Ehlers-Danlos syndrome type 2 ORPHA:536532
- Vascular Ehlers-Danlos-polymicrogyria syndrome ORPHA:636941
- Xeroderma pigmentosum-Cockayne syndrome complex ORPHA:220295
- Isolated congenital adermatoglyphia ORPHA:289465
- Facial dysmorphism-immunodeficiency-livedo-short stature syndrome ORPHA:352712
- Ichthyosis-short stature-brachydactyly-microspherophakia syndrome ORPHA:363992
- PCNA-related progressive neurodegenerative photosensitivity syndrome ORPHA:438134
- Xeroderma pigmentosum variant ORPHA:90342
- Rare developmental defect with connective tissue involvement ORPHA:139030
- Ehlers-Danlos/osteogenesis imperfecta syndrome ORPHA:230857
- Marfan syndrome ORPHA:558
- Desbuquois syndrome ORPHA:1425
- Lethal Larsen-like syndrome ORPHA:2371
- Cutis laxa ORPHA:209
- Geroderma osteodysplastica ORPHA:2078
- De Barsy syndrome ORPHA:2962
- SCARF syndrome ORPHA:3134
- Arterial tortuosity syndrome ORPHA:3342
- Occipital horn syndrome ORPHA:198
- Autosomal dominant cutis laxa ORPHA:90348
- Autosomal recessive cutis laxa type 1 ORPHA:90349
- Autosomal recessive cutis laxa type 2 ORPHA:90350
- Autosomal recessive cutis laxa type 2A ORPHA:357058
- Autosomal recessive cutis laxa type 2B ORPHA:357064
- RIN2 syndrome ORPHA:217335
- Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies ORPHA:221145
- Craniofaciofrontodigital syndrome ORPHA:363705
- Lethal arteriopathy syndrome due to fibulin-4 deficiency ORPHA:314718
- Larsen syndrome ORPHA:503
- Pseudoxanthoma elasticum ORPHA:758
- Grange syndrome ORPHA:79094
- Pseudodiastrophic dysplasia ORPHA:85174
- Ehlers-Danlos syndrome ORPHA:98249
- Classical Ehlers-Danlos syndrome ORPHA:287
- Musculocontractural Ehlers-Danlos syndrome ORPHA:2953
- Hypermobile Ehlers-Danlos syndrome ORPHA:285
- Vascular Ehlers-Danlos syndrome ORPHA:286
- Kyphoscoliotic Ehlers-Danlos syndrome ORPHA:536545
- Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency ORPHA:1900
- Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency ORPHA:300179
- Arthrochalasia Ehlers-Danlos syndrome ORPHA:1899
- Dermatosparaxis Ehlers-Danlos syndrome ORPHA:1901
- Periodontal Ehlers-Danlos syndrome ORPHA:75392
- Spondylodysplastic Ehlers-Danlos syndrome ORPHA:536471
- B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome ORPHA:75496
- B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome ORPHA:536467
- SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome ORPHA:157965
- X-linked Ehlers-Danlos syndrome ORPHA:75497
- Brittle cornea syndrome ORPHA:90354
- Myopathic Ehlers-Danlos syndrome ORPHA:536516
- Classical-like Ehlers-Danlos syndrome type 1 ORPHA:230839
- Cardiac-valvular Ehlers-Danlos syndrome ORPHA:230851
- Classical-like Ehlers-Danlos syndrome type 2 ORPHA:536532
- Vascular Ehlers-Danlos-polymicrogyria syndrome ORPHA:636941
- Cutis laxa-Marfanoid syndrome ORPHA:171719
- Blindness-scoliosis-arachnodactyly syndrome ORPHA:171844
- Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome ORPHA:228410
- 6q25.1 microdeletion syndrome ORPHA:664404
- Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation ORPHA:664401
- Larsen-like syndrome, B3GAT3 type ORPHA:284139
- Connective tissue disorder due to lysyl hydroxylase-3 deficiency ORPHA:300284
- Marfanoid habitus-inguinal hernia-advanced bone age syndrome ORPHA:314041
- Severe myopia-generalized joint laxity-short stature syndrome ORPHA:527450
- Familial articular hypermobility syndrome ORPHA:2295
- Genetic central nervous system malformation ORPHA:183506
- Genetic non-syndromic central nervous system malformation ORPHA:269550
- Congenital hydrocephalus ORPHA:2185
- Congenital communicating hydrocephalus ORPHA:269505
- Congenital non-communicating hydrocephalus ORPHA:269510
- Neural tube defect ORPHA:3388
- Neural tube closure defect ORPHA:268357
- Spina bifida and other spinal dysraphisms ORPHA:823
- Open spinal dysraphism ORPHA:268369
- Open spinal dysraphism with a posterior meningocele ORPHA:645270
- Myelic limited dorsal malformation ORPHA:645378
- Open spinal dysraphism with a myelomeningocele ORPHA:93969
- Myeloschisis ORPHA:645398
- Spinal dysraphism with a posterior meningocele ORPHA:268744
- Isolated posterior meningocele ORPHA:268810
- Myelocystocele ORPHA:268813
- Saccular spinal dysraphism with a stalk to the dome ORPHA:645319
- Saccular limited dorsal myeloschisis ORPHA:645354
- Myelic limited dorsal malformation ORPHA:645378
- Terminal myelocystocele ORPHA:645337
- Open spinal dysraphism with a posterior meningocele ORPHA:645270
- Closed spinal dysraphism ORPHA:645202
- Split cord malformation ORPHA:573278
- Split cord malformation type I ORPHA:1671
- Split cord malformation type II ORPHA:573253
- Split cord malformation, composite type ORPHA:633076
- Isolated posterior meningocele ORPHA:268810
- Myelocystocele ORPHA:268813
- Segmental spinal dysgenesis ORPHA:656126
- Dysraphic spinal cord lipoma ORPHA:645273
- Caudal regression syndrome ORPHA:3027
- Dysraphism with stalk ORPHA:645193
- Retained medullary cord ORPHA:645334
- Spinal dermal sinus ORPHA:645188
- Limited dorsal myeloschisis ORPHA:645196
- Anomaly of the filum ORPHA:645282
- Spinal cord lipoma ORPHA:645276
- Malformation of the neurenteric canal, spinal cord and column ORPHA:268843
- Craniorachischisis ORPHA:63260
- Isolated anencephaly/exencephaly ORPHA:1048
- Iniencephaly ORPHA:63259
- Cephalocele ORPHA:268817
- Isolated encephalocele ORPHA:199647
- Parietal encephalocele ORPHA:268826
- Basal encephalocele ORPHA:268829
- Frontal encephalocele ORPHA:1931
- Nasal encephalocele ORPHA:141118
- Occipital encephalocele ORPHA:268823
- Cranial meningocele ORPHA:268820
- Segmental spinal dysgenesis ORPHA:656126
- Caudal regression syndrome ORPHA:3027
- Lateral meningocele syndrome ORPHA:2789
- Primary syringomyelia ORPHA:99856
- Primary tethered cord syndrome ORPHA:268861
- Neurenteric cyst ORPHA:268865
- Isolated amyelia ORPHA:268868
- Arnold-Chiari malformation type I ORPHA:268882
- Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome ORPHA:397927
- Arachnoid cyst ORPHA:2356
- Cranial nerve and nuclear aplasia ORPHA:98518
- Moebius syndrome ORPHA:570
- Duane retraction syndrome ORPHA:233
- Isolated hereditary congenital facial paralysis ORPHA:306527
- Congenital hereditary facial paralysis-variable hearing loss syndrome ORPHA:306530
- Congenital achiasma ORPHA:324353
- Genetic cerebral malformation ORPHA:269553
- Midline cerebral malformation ORPHA:268926
- Holoprosencephaly ORPHA:2162
- Lobar holoprosencephaly ORPHA:93924
- Alobar holoprosencephaly ORPHA:93925
- Midline interhemispheric variant of holoprosencephaly ORPHA:93926
- Semilobar holoprosencephaly ORPHA:220386
- Septopreoptic holoprosencephaly ORPHA:280195
- Aprosencephaly cerebellar dysgenesis ORPHA:1126
- Duplication of the pituitary gland ORPHA:314621
- Microform holoprosencephaly ORPHA:280200
- Encephaloclastic disorder ORPHA:269190
- Diencephalic-mesencephalic junction dysplasia ORPHA:319192
- Non-syndromic cerebral malformation due to abnormal neuronal migration ORPHA:163209
- Nodular neuronal heterotopia ORPHA:2149
- Periventricular nodular heterotopia ORPHA:98892
- Sub-cortical nodular heterotopia ORPHA:101029
- Subependymal nodular heterotopia ORPHA:101030
- Polymicrogyria ORPHA:35981
- Bilateral polymicrogyria ORPHA:268940
- Bilateral perisylvian polymicrogyria ORPHA:98889
- Bilateral frontoparietal polymicrogyria ORPHA:101070
- Bilateral parasagittal parieto-occipital polymicrogyria ORPHA:208441
- Bilateral frontal polymicrogyria ORPHA:208444
- Bilateral generalized polymicrogyria ORPHA:208447
- Unilateral polymicrogyria ORPHA:268943
- Subcortical band heterotopia ORPHA:99796
- Cerebral cortical dysplasia ORPHA:268950
- Isolated focal cortical dysplasia ORPHA:65683
- Occipital pachygyria and polymicrogyria ORPHA:280640
- Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation ORPHA:300570
- Autosomal recessive frontotemporal pachygyria ORPHA:329329
- Pachygyria-intellectual disability-epilepsy syndrome ORPHA:2798
- Isolated congenital microcephaly ORPHA:199642
- Autosomal recessive primary microcephaly ORPHA:2512
- Autosomal dominant primary microcephaly ORPHA:2514
- Isolated megalencephaly ORPHA:2477
- Genetic posterior fossa malformation ORPHA:269557
- Non-syndromic pontocerebellar hypoplasia ORPHA:98523
- Pontocerebellar hypoplasia type 2 ORPHA:2524
- Pontocerebellar hypoplasia type 1 ORPHA:2254
- Pontocerebellar hypoplasia type 3 ORPHA:97249
- Pontocerebellar hypoplasia type 4 ORPHA:166063
- Pontocerebellar hypoplasia type 6 ORPHA:166073
- Pontocerebellar hypoplasia type 7 ORPHA:284339
- Pontocerebellar hypoplasia type 8 ORPHA:324569
- Pontocerebellar hypoplasia type 9 ORPHA:369920
- Pontocerebellar hypoplasia type 10 ORPHA:411493
- Pontocerebellar hypoplasia type 12 ORPHA:611256
- Pontocerebellar hypoplasia type 11 ORPHA:611247
- Pontocerebellar hypoplasia type 13 ORPHA:613267
- Pontocerebellar hypoplasia type 14 ORPHA:613274
- Genetic cerebellar malformation ORPHA:269560
- Isolated Dandy-Walker malformation ORPHA:217
- Dermoid or epidermoid cyst of the central nervous system ORPHA:530033
- Genetic syndrome with a central nervous system malformation as a major feature ORPHA:269564
- Pancreatic agenesis-holoprosencephaly syndrome ORPHA:556955
- PRUNE1-related neurological syndrome ORPHA:544469
- Duane retraction syndrome with congenital deafness ORPHA:529574
- Meckel syndrome ORPHA:564
- Horizontal gaze palsy with progressive scoliosis ORPHA:2744
- Hydrolethalus ORPHA:2189
- Septo-optic dysplasia spectrum ORPHA:3157
- Familial caudal dysgenesis ORPHA:1768
- Lissencephaly ORPHA:48471
- Microlissencephaly ORPHA:1083
- Cobblestone lissencephaly ORPHA:51577
- Cobblestone lissencephaly without muscular or ocular involvement ORPHA:352682
- Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies ORPHA:352687
- Lissencephaly with cerebellar hypoplasia ORPHA:86823
- Lissencephaly with cerebellar hypoplasia type A ORPHA:100011
- Lissencephaly with cerebellar hypoplasia type B ORPHA:100012
- Lissencephaly with cerebellar hypoplasia type C ORPHA:100013
- Lissencephaly with cerebellar hypoplasia type D ORPHA:100014
- Lissencephaly with cerebellar hypoplasia type E ORPHA:100015
- Lissencephaly with cerebellar hypoplasia type F ORPHA:100016
- Classic lissencephaly ORPHA:102009
- Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome ORPHA:572013
- Lissencephaly type 1 due to doublecortin gene mutation ORPHA:2148
- Miller-Dieker syndrome ORPHA:531
- Isolated lissencephaly type 1 without known genetic defects ORPHA:1084
- Lissencephaly due to LIS1 mutation ORPHA:95232
- Other syndrome with lissencephaly as a major feature ORPHA:102010
- Craniotelencephalic dysplasia ORPHA:1528
- Micro syndrome ORPHA:2510
- Baraitser-Winter cerebrofrontofacial syndrome ORPHA:2995
- X-linked lissencephaly with abnormal genitalia ORPHA:452
- Lissencephaly type 3 ORPHA:102011
- Neu-Laxova syndrome ORPHA:2671
- Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency ORPHA:583602
- Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency ORPHA:583607
- Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency ORPHA:583612
- Lissencephaly type 3-familial fetal akinesia sequence syndrome ORPHA:86821
- Lissencephaly type 3-metacarpal bone dysplasia syndrome ORPHA:86822
- Lissencephaly due to TUBA1A mutation ORPHA:171680
- Cerebrooculonasal syndrome ORPHA:66625
- Macrocephaly-intellectual disability-autism syndrome ORPHA:210548
- Fowler vasculopathy ORPHA:221126
- Progressive cerebello-cerebral atrophy ORPHA:247198
- Polymicrogyria with optic nerve hypoplasia ORPHA:250972
- CK syndrome ORPHA:251383
- Syndrome with microcephaly as a major feature ORPHA:269528
- SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome ORPHA:597743
- Blepharophimosis-ptosis-epicanthus inversus syndrome plus ORPHA:572333
- PYCR2-related microcephaly-progressive leukoencephalopathy ORPHA:481152
- Micro syndrome ORPHA:2510
- Microcephaly-brachydactyly-kyphoscoliosis syndrome ORPHA:3433
- Bowen-Conradi syndrome ORPHA:1270
- Microcephaly-cardiomyopathy syndrome ORPHA:2515
- Microcephaly-cervical spine fusion anomalies syndrome ORPHA:2522
- Microcephaly-brain defect-spasticity-hypernatremia syndrome ORPHA:2523
- Microcephaly-lymphedema-chorioretinopathy syndrome ORPHA:2526
- Microcephaly-microcornea syndrome, Seemanova type ORPHA:2528
- Amish lethal microcephaly ORPHA:99742
- Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome ORPHA:293967
- Microcephaly-capillary malformation syndrome ORPHA:294016
- Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome ORPHA:306558
- Jawad syndrome ORPHA:313795
- Microcephalic primordial dwarfism ORPHA:324761
- Seckel syndrome ORPHA:808
- Ear-patella-short stature syndrome ORPHA:2554
- Microcephalic primordial dwarfism, Toriello type ORPHA:2643
- Microcephalic osteodysplastic primordial dwarfism types I and III ORPHA:2636
- Microcephalic osteodysplastic primordial dwarfism type II ORPHA:2637
- Microcephalic osteodysplastic dysplasia, Saul-Wilson type ORPHA:85172
- Alazami syndrome ORPHA:319671
- Microcephalic primordial dwarfism, Dauber type ORPHA:319675
- Microcephalic primordial dwarfism due to ZNF335 deficiency ORPHA:329228
- Microcephalic cortical malformations-short stature due to RTTN deficiency ORPHA:468631
- DNMT3A-related microcephalic dwarfism ORPHA:658595
- DONSON-related microcephaly-short stature-limb abnormalities spectrum ORPHA:572761
- Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome ORPHA:329332
- Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome ORPHA:391408
- Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ORPHA:402364
- Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome ORPHA:404437
- Orofaciodigital syndrome type 14 ORPHA:434179
- Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome ORPHA:439897
- NDE1-related microhydranencephaly ORPHA:443162
- Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ORPHA:477814
- Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome ORPHA:662762
- Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome ORPHA:662179
- Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome ORPHA:664923
- Rauch-Steindl syndrome ORPHA:659642
- Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome ORPHA:684240
- Intellectual disability-early-onset cataract-microcephaly syndrome ORPHA:633035
- Genetic syndrome with a cerebellar malformation as a major feature ORPHA:269567
- Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome ORPHA:480898
- Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome ORPHA:495875
- Vici syndrome ORPHA:1493
- Chudley-McCullough syndrome ORPHA:314597
- Joubert syndrome with oculorenal defect ORPHA:2318
- Joubert syndrome with hepatic defect ORPHA:1454
- X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome ORPHA:1568
- Orofaciodigital syndrome type 6 ORPHA:2754
- Hoyeraal-Hreidarsson syndrome ORPHA:3322
- PHACE syndrome ORPHA:42775
- Lhermitte-Duclos disease ORPHA:65285
- Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome ORPHA:65288
- Endosteal sclerosis-cerebellar hypoplasia syndrome ORPHA:85186
- X-linked intellectual disability-cerebellar hypoplasia syndrome ORPHA:137831
- X-linked intellectual disability, Najm type ORPHA:163937
- X-linked cerebral-cerebellar-coloboma syndrome ORPHA:163961
- Joubert syndrome with ocular defect ORPHA:220493
- Joubert syndrome with renal defect ORPHA:220497
- Genetic syndrome with a Dandy-Walker malformation as a major feature ORPHA:269570
- Dandy-Walker malformation-postaxial polydactyly syndrome ORPHA:1566
- Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome ORPHA:1538
- 3C syndrome ORPHA:7
- Aase-Smith syndrome ORPHA:916
- Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome ORPHA:1970
- Cervical hypertrichosis-peripheral neuropathy syndrome ORPHA:2218
- NPHP3-related Meckel-like syndrome ORPHA:3032
- B4GALT1-CDG ORPHA:79332
- Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome ORPHA:370022
- Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome ORPHA:397709
- Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome ORPHA:401959
- Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome ORPHA:439897
- Cerebellar-facial-dental syndrome ORPHA:444072
- Polymicrogyria due to TUBB2B mutation ORPHA:300573
- NDE1-related microhydranencephaly ORPHA:443162
- Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome ORPHA:457284
- Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome ORPHA:529665
- EN1-related dorsoventral syndrome ORPHA:611223
- Tubulinopathy-associated dysgyria ORPHA:467166
- Port-wine nevi-mega cisterna magna-hydrocephalus syndrome ORPHA:2703
- X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome ORPHA:459070
- Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome ORPHA:466688
- SLC39A8-CDG ORPHA:468699
- Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature ORPHA:269573
- Micro syndrome ORPHA:2510
- Microlissencephaly ORPHA:1083
- Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ORPHA:83473
- Aicardi syndrome ORPHA:50
- Acrocallosal syndrome ORPHA:36
- Corpus callosum agenesis-neuronopathy syndrome ORPHA:1496
- Vici syndrome ORPHA:1493
- Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome ORPHA:1495
- Temtamy syndrome ORPHA:1777
- Toriello-Carey syndrome ORPHA:3338
- Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome ORPHA:52055
- Microcephaly-polymicrogyria-corpus callosum agenesis syndrome ORPHA:171703
- L1 syndrome ORPHA:275543
- Hydrocephalus with stenosis of the aqueduct of Sylvius ORPHA:2182
- MASA syndrome ORPHA:2466
- X-linked complicated corpus callosum dysgenesis ORPHA:1497
- X-linked complicated spastic paraplegia type 1 ORPHA:306617
- ARX-related encephalopathy-brain malformation spectrum ORPHA:423655
- Corpus callosum agenesis-abnormal genitalia syndrome ORPHA:2508
- X-linked lissencephaly with abnormal genitalia ORPHA:452
- Tubulinopathy-associated dysgyria ORPHA:467166
- Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome ORPHA:466688
- Corpus callosum agenesis-macrocephaly-hypertelorism syndrome ORPHA:459074
- Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome ORPHA:447893
- Porencephaly-microcephaly-bilateral congenital cataract syndrome ORPHA:306547
- Cataract-congenital heart disease-neural tube defect syndrome ORPHA:314993
- SLC35A2-CDG ORPHA:356961
- Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome ORPHA:444069
- Lethal hydranencephaly-diaphragmatic hernia syndrome ORPHA:480528
- Hydrocephaly-low insertion umbilicus syndrome ORPHA:2184
- Hartsfield syndrome ORPHA:2117
- Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome ORPHA:500135
- Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome ORPHA:500144
- Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome ORPHA:500150
- Thoracic dysplasia-hydrocephalus syndrome ORPHA:1861
- TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome ORPHA:592570
- KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome ORPHA:610569
- Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome ORPHA:603448
- Genetic multiple congenital anomalies/dysmorphic syndrome ORPHA:183533
- Genetic lethal multiple congenital anomalies/dysmorphic syndrome ORPHA:471383
- Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome ORPHA:2570
- Lethal multiple pterygium syndrome ORPHA:33108
- Microphthalmia-microtia-fetal akinesia syndrome ORPHA:2547
- Lethal hydranencephaly-diaphragmatic hernia syndrome ORPHA:480528
- Diaphragmatic hernia-short bowel-asplenia syndrome ORPHA:527468
- Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome ORPHA:500135
- Triploidy syndrome ORPHA:3376
- Meckel syndrome ORPHA:564
- Bartsocas-Papas syndrome ORPHA:1234
- Thakker-Donnai syndrome ORPHA:1780
- Edinburgh malformation syndrome ORPHA:1895
- Endocrine-cerebro-osteodysplasia syndrome ORPHA:199332
- Lethal polymalformative syndrome, Boissel type ORPHA:210144
- Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome ORPHA:444069
- German syndrome ORPHA:2077
- Macrosomia-microphthalmia-cleft palate syndrome ORPHA:2432
- Lethal faciocardiomelic dysplasia ORPHA:1972
- Lethal brain and heart developmental defects ORPHA:580933
- PAICS deficiency ORPHA:633099
- Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability ORPHA:330206
- Camptodactyly-joint contractures-facial skeletal defects syndrome ORPHA:1323
- Oculo-auriculo-vertebral spectrum ORPHA:141132
- Dysmorphism-pectus carinatum-joint laxity syndrome ORPHA:2104
- Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome ORPHA:643503
- Cardiac-urogenital syndrome ORPHA:647811
- B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome ORPHA:567502
- Wormian bones-micrognathia-abnormal dentition-progeroid syndrome ORPHA:659873
- Greig cephalopolysyndactyly-contiguous gene syndrome ORPHA:658805
- Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome ORPHA:685067
- Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome ORPHA:688581
- Structural heart defects-renal anomalies syndrome ORPHA:689822
- Flat face-microstomia-ear anomaly syndrome ORPHA:1968
- Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome ORPHA:1969
- Split hand-split foot-deafness syndrome ORPHA:71271
- Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome ORPHA:397623
- Oculotrichoanal syndrome ORPHA:2717
- Port-wine nevi-mega cisterna magna-hydrocephalus syndrome ORPHA:2703
- Progressive non-infectious anterior vertebral fusion ORPHA:2062
- Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome ORPHA:2250
- Donohue syndrome ORPHA:508
- Townes-Brocks syndrome ORPHA:857
- BOR syndrome ORPHA:107
- Alagille syndrome ORPHA:52
- Alagille syndrome due to 20p12 microdeletion ORPHA:261600
- Alagille syndrome due to a JAG1 point mutation ORPHA:261619
- Alagille syndrome due to a NOTCH2 point mutation ORPHA:261629
- Treacher-Collins syndrome ORPHA:861
- Nager syndrome ORPHA:245
- Distal arthrogryposis type 1 ORPHA:1146
- Charlie M syndrome ORPHA:1406
- Postaxial acrofacial dysostosis ORPHA:246
- Freeman-Sheldon syndrome ORPHA:2053
- Marshall syndrome ORPHA:560
- Fanconi anemia ORPHA:84
- Waardenburg syndrome ORPHA:3440
- Waardenburg syndrome type 1 ORPHA:894
- Waardenburg syndrome type 2 ORPHA:895
- Waardenburg syndrome type 3 ORPHA:896
- Van der Woude syndrome ORPHA:888
- Cherubism ORPHA:184
- Holt-Oram syndrome ORPHA:392
- Noonan syndrome with multiple lentigines ORPHA:500
- Fraser syndrome ORPHA:2052
- Heart defects-limb shortening syndrome ORPHA:1354
- Aase-Smith syndrome ORPHA:916
- Abruzzo-Erickson syndrome ORPHA:921
- Acrocraniofacial dysostosis ORPHA:949
- Acrofacial dysostosis, Weyers type ORPHA:952
- Acro-renal-mandibular syndrome ORPHA:958
- Acro-renal-ocular syndrome ORPHA:959
- Acrorenal syndrome ORPHA:971
- PAGOD syndrome ORPHA:991
- Fetal akinesia deformation sequence ORPHA:994
- Anonychia-microcephaly syndrome ORPHA:1094
- Anophthalmia plus syndrome ORPHA:1104
- Burn-McKeown syndrome ORPHA:1200
- Barber-Say syndrome ORPHA:1231
- Beemer-Ertbruggen syndrome ORPHA:1237
- Bencze syndrome ORPHA:1241
- Maxillonasal dysplasia ORPHA:1248
- Ascher syndrome ORPHA:1253
- Brachytelephalangy-dysmorphism-Kallmann syndrome ORPHA:1295
- Branchio-oculo-facial syndrome ORPHA:1297
- Camptodactyly syndrome, Guadalajara type 2 ORPHA:1326
- Camptodactyly syndrome, Guadalajara type 1 ORPHA:1327
- Pentalogy of Cantrell ORPHA:1335
- Heart defect-tongue hamartoma-polysyndactyly syndrome ORPHA:1338
- Heart-hand syndrome type 3 ORPHA:1342
- Heart-hand syndrome type 2 ORPHA:1350
- Atrioventricular defect-blepharophimosis-radial and anal defect syndrome ORPHA:1352
- Cataract-aberrant oral frenula-growth delay syndrome ORPHA:1373
- Night blindness-skeletal anomalies-dysmorphism syndrome ORPHA:1390
- CODAS syndrome ORPHA:1458
- Lethal congenital contracture syndrome type 1 ORPHA:1486
- Vici syndrome ORPHA:1493
- SPECC1L-related hypertelorism syndrome ORPHA:1519
- Craniofacial-deafness-hand syndrome ORPHA:1529
- Cryptomicrotia-brachydactyly-excess fingertip arch syndrome ORPHA:1547
- Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome ORPHA:1555
- Dahlberg-Borer-Newcomer syndrome ORPHA:1563
- Autosomal recessive faciodigitogenital syndrome ORPHA:1974
- Femoral-facial syndrome ORPHA:1988
- Cleft lip-retinopathy syndrome ORPHA:1995
- Blepharo-cheilo-odontic syndrome ORPHA:1997
- Cleft lip/palate-intestinal malrotation-cardiopathy syndrome ORPHA:2001
- Alar cartilages hypoplasia-coloboma-telecanthus syndrome ORPHA:2007
- Cleft palate-lateral synechia syndrome ORPHA:2016
- Gingival fibromatosis-facial dysmorphism syndrome ORPHA:2025
- Scalp-ear-nipple syndrome ORPHA:2036
- Cole-Carpenter syndrome ORPHA:2050
- Frontofacionasal dysplasia ORPHA:1791
- Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome ORPHA:2057
- Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome ORPHA:2064
- Genitopalatocardiac syndrome ORPHA:2075
- Multinodular goiter-cystic kidney-polydactyly syndrome ORPHA:2091
- Gordon syndrome ORPHA:376
- Gorlin-Chaudhry-Moss syndrome ORPHA:2095
- Short stature-craniofacial anomalies-genital hypoplasia syndrome ORPHA:2994
- Diaphragmatic defect-limb deficiency-skull defect syndrome ORPHA:2141
- Hirschsprung disease-type D brachydactyly syndrome ORPHA:2150
- Hirschsprung disease-deafness-polydactyly syndrome ORPHA:2155
- Holzgreve syndrome ORPHA:2167
- Hydrocephaly-tall stature-joint laxity syndrome ORPHA:2181
- Hypertelorism-hypospadias-polysyndactyly syndrome ORPHA:2211
- Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome ORPHA:2252
- Fibulo-ulnar hypoplasia-renal anomalies syndrome ORPHA:2256
- CHILD syndrome ORPHA:139
- Ichthyosis-oral and digital anomalies syndrome ORPHA:2272
- Juberg-Hayward syndrome ORPHA:2319
- Schilbach-Rott syndrome ORPHA:2353
- Lacrimoauriculodentodigital syndrome ORPHA:2363
- Nasopalpebral lipoma-coloboma syndrome ORPHA:2399
- Dislocation of the hip-dysmorphism syndrome ORPHA:2412
- Czeizel-Losonci syndrome ORPHA:2437
- Hand-foot-genital syndrome ORPHA:2438
- Mandibuloacral dysplasia ORPHA:2457
- Mandibuloacral dysplasia with type A lipodystrophy ORPHA:90153
- Mandibuloacral dysplasia with type B lipodystrophy ORPHA:90154
- Matthew-Wood syndrome ORPHA:2470
- McKusick-Kaufman syndrome ORPHA:2473
- White forelock with malformations ORPHA:2475
- Melnick-Needles syndrome ORPHA:2484
- Müllerian duct anomalies-limb anomalies syndrome ORPHA:2491
- Microcephaly-albinism-digital anomalies syndrome ORPHA:2513
- Microcephaly-cardiac defect-lung malsegmentation syndrome ORPHA:2516
- Oculoauriculovertebral spectrum with radial defects ORPHA:2549
- Pyramidal molars-abnormal upper lip syndrome ORPHA:2561
- 3M syndrome ORPHA:2616
- Mesomelic dwarfism-cleft palate-camptodactyly syndrome ORPHA:2631
- Keipert syndrome ORPHA:2662
- Nephrosis-deafness-urinary tract-digital malformations syndrome ORPHA:2669
- Cyprus facial-neuromusculoskeletal syndrome ORPHA:2674
- PARC syndrome ORPHA:2825
- Short tarsus-absence of lower eyelashes syndrome ORPHA:2832
- Short stature-valvular heart disease-characteristic facies syndrome ORPHA:2868
- PHAVER syndrome ORPHA:2876
- Polysyndactyly-cardiac malformation syndrome ORPHA:2934
- Autosomal dominant prognathism ORPHA:2964
- Autosomal recessive multiple pterygium syndrome ORPHA:2990
- RAPADILINO syndrome ORPHA:3021
- Richieri Costa-Pereira syndrome ORPHA:3102
- Nijmegen breakage syndrome ORPHA:647
- Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome ORPHA:3201
- Deafness-craniofacial syndrome ORPHA:3241
- Tetraamelia-multiple malformations syndrome ORPHA:3301
- Thomas syndrome ORPHA:3316
- Thymic-renal-anal-lung dysplasia ORPHA:3326
- Absent tibia-polydactyly-arachnoid cyst syndrome ORPHA:3328
- Trigonocephaly-bifid nose-acral anomalies syndrome ORPHA:3368
- Van den Ende-Gupta syndrome ORPHA:2460
- Velo-facial-skeletal syndrome ORPHA:3424
- Verloove Vanhorick-Brubakk syndrome ORPHA:3429
- Weill-Marchesani syndrome ORPHA:3449
- Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome ORPHA:1101
- Von Voss-Cherstvoy syndrome ORPHA:3439
- Axenfeld-Rieger syndrome ORPHA:782
- Craniolenticulosutural dysplasia ORPHA:50814
- Braddock syndrome ORPHA:52047
- Branchiootic syndrome ORPHA:52429
- Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome ORPHA:77300
- Grange syndrome ORPHA:79094
- Developmental malformations-deafness-dystonia syndrome ORPHA:79107
- Macrostomia-preauricular tags-external ophthalmoplegia syndrome ORPHA:83619
- LUMBAR syndrome ORPHA:83628
- Pectus excavatum-macrocephaly-dysplastic nails syndrome ORPHA:2835
- 49,XYYYY syndrome ORPHA:99330
- Lethal congenital contracture syndrome type 2 ORPHA:137776
- Lethal congenital contracture syndrome type 3 ORPHA:137783
- Syndactyly-telecanthus-anogenital and renal malformations syndrome ORPHA:140952
- Autosomal dominant otospondylomegaepiphyseal dysplasia ORPHA:166100
- 8q22.1 microdeletion syndrome ORPHA:178303
- Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type ORPHA:217026
- BNAR syndrome ORPHA:217266
- Nijmegen breakage syndrome-like disorder ORPHA:240760
- 14q22q23 microdeletion syndrome ORPHA:264200
- Warsaw breakage syndrome ORPHA:280558
- Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome ORPHA:314002
- Greig cephalopolysyndactyly syndrome ORPHA:380
- Otoonychoperoneal syndrome ORPHA:2793
- External auditory canal atresia-vertical talus-hypertelorism syndrome ORPHA:3023
- Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome ORPHA:508476
- Congenital vertebral-cardiac-renal anomalies syndrome ORPHA:521438
- EVEN-plus syndrome ORPHA:496751
- Split-foot malformation-mesoaxial polydactyly syndrome ORPHA:488232
- Subaortic stenosis-short stature syndrome ORPHA:3191
- Müllerian derivatives-lymphangiectasia-polydactyly syndrome ORPHA:1655
- Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability ORPHA:611327
- Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome ORPHA:314555
- Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome ORPHA:662829
- Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome ORPHA:662189
- Neurodevelopmental delay-intellectual disability-skeletal defects syndrome ORPHA:662198
- Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome ORPHA:662207
- PBX1-related congenital anomalies of kidney-urinary tract syndrome ORPHA:656130
- Intellectual disability-cupped ears syndrome ORPHA:656135
- CHD4-related neurodevelopmental disorder ORPHA:653712
- Jansen-de Vries syndrome ORPHA:653767
- 16q22 deletion syndrome ORPHA:658540
- Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome ORPHA:658843
- Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome ORPHA:659702
- Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome ORPHA:659975
- Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome ORPHA:659904
- Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome ORPHA:660021
- Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome ORPHA:662762
- Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome ORPHA:662175
- Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome ORPHA:662179
- CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome ORPHA:646278
- Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome ORPHA:675775
- Cleft palate-congenital heart defect-intellectual disability syndrome ORPHA:652519
- Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation ORPHA:652514
- Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion ORPHA:261190
- Oculogastrointestinal-neurodevelopmental syndrome ORPHA:611201
- Congenital generalized lipodystrophy ORPHA:528
- Joubert syndrome ORPHA:475
- Fraser syndrome ORPHA:2052
- 2q32q33 deletion syndrome ORPHA:251019
- Yunis-Varon syndrome ORPHA:3472
- Bardet-Biedl syndrome ORPHA:110
- Branchiogenic deafness syndrome ORPHA:50815
- Potocki-Shaffer syndrome ORPHA:52022
- Carpenter syndrome ORPHA:65759
- Robinow syndrome ORPHA:97360
- King-Denborough syndrome ORPHA:99741
- Symptomatic form of Coffin-Lowry syndrome in female carriers ORPHA:276630
- Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome ORPHA:280679
- Dysmorphism-conductive hearing loss-heart defect syndrome ORPHA:289553
- Contractures-developmental delay-Pierre Robin syndrome ORPHA:436003
- Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome ORPHA:494439
- Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome ORPHA:496693
- Weiss-Kruszka Syndrome ORPHA:502430
- 4q25 proximal deletion syndrome ORPHA:502437
- Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome ORPHA:589856
- LIG4 syndrome ORPHA:99812
- KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome ORPHA:610569
- Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome ORPHA:611207
- Mucolipidosis type II ORPHA:576
- Overgrowth-macrocephaly-facial dysmorphism syndrome ORPHA:137634
- Hurler syndrome ORPHA:93473
- Megalencephaly-capillary malformation-polymicrogyria syndrome ORPHA:60040
- CODAS syndrome ORPHA:1458
- Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome ORPHA:664410
- 5q14.3 microdeletion syndrome ORPHA:228384
- Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation ORPHA:664416
- Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome ORPHA:664438
- Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome ORPHA:664430
- Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome ORPHA:664923
- Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome ORPHA:2502
- Severe oculo-renal-cerebellar syndrome ORPHA:2715
- Orofaciodigital syndrome type 2 ORPHA:2751
- Orofaciodigital syndrome type 4 ORPHA:2753
- Orofaciodigital syndrome type 6 ORPHA:2754
- Autosomal recessive distal osteolysis syndrome ORPHA:2776
- Osteoporosis-pseudoglioma syndrome ORPHA:2788
- Pachygyria-intellectual disability-epilepsy syndrome ORPHA:2798
- Orofaciodigital syndrome type 5 ORPHA:2919
- Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome ORPHA:2928
- De Barsy syndrome ORPHA:2962
- Intellectual disability-cataracts-calcified pinnae-myopathy syndrome ORPHA:3042
- Spinocerebellar degeneration-corneal dystrophy syndrome ORPHA:3177
- Deafness-onychodystrophy syndrome ORPHA:3231
- MEHMO syndrome ORPHA:85282
- X-linked intellectual disability, Schimke type ORPHA:85285
- X-linked intellectual disability, Stocco Dos Santos type ORPHA:85288
- X-linked spinocerebellar ataxia type 3 ORPHA:85297
- X-linked intellectual disability-macrocephaly-macroorchidism syndrome ORPHA:85320
- X-linked intellectual disability, Seemanova type ORPHA:85323
- X-linked intellectual disability, Shrimpton type ORPHA:85324
- X-linked intellectual disability-acromegaly-hyperactivity syndrome ORPHA:85327
- X-linked intellectual disability-cerebellar hypoplasia syndrome ORPHA:137831
- X-linked intellectual disability, Najm type ORPHA:163937
- X-linked intellectual disability, Nascimento type ORPHA:163956
- X-linked cerebral-cerebellar-coloboma syndrome ORPHA:163961
- X-linked dominant chondrodysplasia, Chassaing-Lacombe type ORPHA:163966
- X-linked intellectual disability, Cilliers type ORPHA:163971
- X-linked intellectual disability, Van Esch type ORPHA:163976
- X-linked intellectual disability-craniofacioskeletal syndrome ORPHA:163979
- 48,XYYY syndrome ORPHA:99329
- 17q11.2 microduplication syndrome ORPHA:139474
- Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome ORPHA:163649
- Spondyloepiphyseal dysplasia tarda, Kohn type ORPHA:163665
- Microcephaly-polymicrogyria-corpus callosum agenesis syndrome ORPHA:171703
- Macrocephaly-intellectual disability-autism syndrome ORPHA:210548
- Hyperphosphatasia-intellectual disability syndrome ORPHA:247262
- Polymicrogyria with optic nerve hypoplasia ORPHA:250972
- Temple syndrome ORPHA:254516
- Temple syndrome due to maternal uniparental disomy of chromosome 14 ORPHA:96184
- Temple syndrome due to paternal 14q32.2 microdeletion ORPHA:254525
- Temple syndrome due to paternal 14q32.2 hypomethylation ORPHA:254531
- 2q23.1 microduplication syndrome ORPHA:313947
- 9p13 microdeletion syndrome ORPHA:324313
- Mowat-Wilson syndrome ORPHA:2152
- Mowat-Wilson syndrome due to monosomy 2q22 ORPHA:261537
- Mowat-Wilson syndrome due to a ZEB2 point mutation ORPHA:261552
- Holoprosencephaly-postaxial polydactyly syndrome ORPHA:2166
- Microcephaly-glomerulonephritis-marfanoid habitus syndrome ORPHA:2172
- Hypertelorism-microtia-facial clefting syndrome ORPHA:2213
- Ramos-Arroyo syndrome ORPHA:1051
- Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome ORPHA:2234
- Ulna hypoplasia-intellectual disability syndrome ORPHA:2249
- Hypospadias-intellectual disability, Goldblatt type syndrome ORPHA:2261
- Lowry-MacLean syndrome ORPHA:2409
- Macrocephaly-spastic paraplegia-dysmorphism syndrome ORPHA:2429
- Marden-Walker syndrome ORPHA:2461
- Shprintzen-Goldberg syndrome ORPHA:2462
- Marfanoid habitus-autosomal recessive intellectual disability syndrome ORPHA:2463
- McDonough syndrome ORPHA:2471
- Microbrachycephaly-ptosis-cleft lip syndrome ORPHA:2511
- Microcephaly-cardiomyopathy syndrome ORPHA:2515
- Autosomal recessive chorioretinopathy-microcephaly syndrome ORPHA:2518
- Microcephaly-cleft palate-abnormal retinal pigmentation syndrome ORPHA:2521
- Microcephaly-cervical spine fusion anomalies syndrome ORPHA:2522
- Microcephaly-brain defect-spasticity-hypernatremia syndrome ORPHA:2523
- Microcephaly-microcornea syndrome, Seemanova type ORPHA:2528
- Microcephaly-deafness-intellectual disability syndrome ORPHA:2533
- Myhre syndrome ORPHA:2588
- N syndrome ORPHA:2608
- Microcephalic primordial dwarfism, Montreal type ORPHA:2617
- Lenz-Majewski hyperostotic dwarfism ORPHA:2658
- Neurofaciodigitorenal syndrome ORPHA:2673
- Oculocerebrofacial syndrome, Kaufman type ORPHA:2707
- Polymicrogyria ORPHA:35981
- Bilateral polymicrogyria ORPHA:268940
- Bilateral perisylvian polymicrogyria ORPHA:98889
- Bilateral frontoparietal polymicrogyria ORPHA:101070
- Bilateral parasagittal parieto-occipital polymicrogyria ORPHA:208441
- Bilateral frontal polymicrogyria ORPHA:208444
- Bilateral generalized polymicrogyria ORPHA:208447
- Unilateral polymicrogyria ORPHA:268943
- Lissencephaly ORPHA:48471
- Microlissencephaly ORPHA:1083
- Cobblestone lissencephaly ORPHA:51577
- Cobblestone lissencephaly without muscular or ocular involvement ORPHA:352682
- Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies ORPHA:352687
- Lissencephaly with cerebellar hypoplasia ORPHA:86823
- Lissencephaly with cerebellar hypoplasia type A ORPHA:100011
- Lissencephaly with cerebellar hypoplasia type B ORPHA:100012
- Lissencephaly with cerebellar hypoplasia type C ORPHA:100013
- Lissencephaly with cerebellar hypoplasia type D ORPHA:100014
- Lissencephaly with cerebellar hypoplasia type E ORPHA:100015
- Lissencephaly with cerebellar hypoplasia type F ORPHA:100016
- Classic lissencephaly ORPHA:102009
- Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome ORPHA:572013
- Lissencephaly type 1 due to doublecortin gene mutation ORPHA:2148
- Miller-Dieker syndrome ORPHA:531
- Isolated lissencephaly type 1 without known genetic defects ORPHA:1084
- Lissencephaly due to LIS1 mutation ORPHA:95232
- Other syndrome with lissencephaly as a major feature ORPHA:102010
- Craniotelencephalic dysplasia ORPHA:1528
- Micro syndrome ORPHA:2510
- Baraitser-Winter cerebrofrontofacial syndrome ORPHA:2995
- X-linked lissencephaly with abnormal genitalia ORPHA:452
- Lissencephaly type 3 ORPHA:102011
- Neu-Laxova syndrome ORPHA:2671
- Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency ORPHA:583602
- Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency ORPHA:583607
- Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency ORPHA:583612
- Lissencephaly type 3-familial fetal akinesia sequence syndrome ORPHA:86821
- Lissencephaly type 3-metacarpal bone dysplasia syndrome ORPHA:86822
- Lissencephaly due to TUBA1A mutation ORPHA:171680
- Phelan-McDermid syndrome ORPHA:48652
- Phelan-McDermid syndrome due to SHANK3 mutation ORPHA:662172
- Phelan-McDermid syndrome due to 22q13.3 deletion ORPHA:662169
- Microlissencephaly-micromelia syndrome ORPHA:50810
- Lipodystrophy-intellectual disability-deafness syndrome ORPHA:50811
- Global developmental delay-osteopenia-ectodermal defect syndrome ORPHA:73223
- Ossification anomalies-psychomotor developmental delay syndrome ORPHA:73230
- B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome ORPHA:75496
- Microphthalmia-brain atrophy syndrome ORPHA:77299
- CAMOS syndrome ORPHA:83472
- 12q14 microdeletion syndrome ORPHA:94063
- 48,XXXY syndrome ORPHA:96263
- 49,XXXXY syndrome ORPHA:96264
- X-linked skeletal dysplasia-intellectual disability syndrome ORPHA:1436
- Seizures-intellectual disability due to hydroxylysinuria syndrome ORPHA:79156
- S-adenosylhomocysteine hydrolase deficiency ORPHA:88618
- Keratosis follicularis-dwarfism-cerebral atrophy syndrome ORPHA:2339
- Microphthalmia with linear skin defects syndrome ORPHA:2556
- Orofaciodigital syndrome type 1 ORPHA:2750
- X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome ORPHA:2958
- X-linked intellectual disability-seizures-psoriasis syndrome ORPHA:3052
- Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ORPHA:83473
- COG7-CDG ORPHA:79333
- Matthew-Wood syndrome ORPHA:2470
- Distal deletion 1q syndrome ORPHA:36367
- Microphthalmia with brain and digit anomalies ORPHA:139471
- Grange syndrome ORPHA:79094
- Otofaciocervical syndrome ORPHA:2792
- TARP syndrome ORPHA:2886
- Keipert syndrome ORPHA:2662
- 11p15.4 microduplication syndrome ORPHA:300305
- Multiple congenital anomalies-hypotonia-seizures syndrome type 2 ORPHA:300496
- Polymicrogyria due to TUBB2B mutation ORPHA:300573
- 20p13 microdeletion syndrome ORPHA:313781
- Jawad syndrome ORPHA:313795
- 7p22.1 microduplication syndrome ORPHA:314034
- Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome ORPHA:314575
- 15q overgrowth syndrome ORPHA:314585
- Cerebrofacioarticular syndrome ORPHA:314679
- Distal 17p13.1 microdeletion syndrome ORPHA:319171
- Wiedemann-Steiner syndrome ORPHA:319182
- X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome ORPHA:431140
- Orofaciodigital syndrome type 14 ORPHA:434179
- X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome ORPHA:435938
- HIDEA syndrome ORPHA:436141
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome ORPHA:438213
- Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion ORPHA:314655
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation ORPHA:438216
- PDE4D haploinsufficiency syndrome ORPHA:439822
- 11q22.2q22.3 microdeletion syndrome ORPHA:444002
- 20q11.2 microdeletion syndrome ORPHA:444051
- Cerebellar-facial-dental syndrome ORPHA:444072
- Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome ORPHA:444077
- 19p13.3 microduplication syndrome ORPHA:447980
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome ORPHA:453499
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion ORPHA:352665
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation ORPHA:453504
- 1p35.2 microdeletion syndrome ORPHA:456298
- Infantile multisystem neurologic-endocrine-pancreatic disease ORPHA:456312
- KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome ORPHA:457193
- X-linked intellectual disability-short stature-overweight syndrome ORPHA:457240
- Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome ORPHA:457279
- Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome ORPHA:457284
- Megalencephaly-severe kyphoscoliosis-overgrowth syndrome ORPHA:457359
- Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome ORPHA:457365
- Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome ORPHA:457395
- Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome ORPHA:457485
- Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome ORPHA:459061
- X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome ORPHA:459070
- Corpus callosum agenesis-macrocephaly-hypertelorism syndrome ORPHA:459074
- Spastic paraplegia-severe developmental delay-epilepsy syndrome ORPHA:464282
- Short stature-brachydactyly-obesity-global developmental delay syndrome ORPHA:464288
- DYRK1A-related intellectual disability syndrome ORPHA:464306
- DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion ORPHA:268261
- Intellectual disability syndrome due to a DYRK1A point mutation ORPHA:464311
- Basel-Vanagaite-Smirin-Yosef syndrome ORPHA:464738
- Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome ORPHA:466688
- Macrocephaly-intellectual disability-left ventricular non compaction syndrome ORPHA:466791
- WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome ORPHA:466943
- Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion ORPHA:284169
- Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation ORPHA:466950
- White-Sutton syndrome ORPHA:468678
- SLC39A8-CDG ORPHA:468699
- Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome ORPHA:476126
- Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome ORPHA:477993
- X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability ORPHA:480880
- Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome ORPHA:480898
- X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome ORPHA:480907
- PYCR2-related microcephaly-progressive leukoencephalopathy ORPHA:481152
- 16p12.1p12.3 triplication syndrome ORPHA:485405
- Takenouchi-Kosaki syndrome ORPHA:487796
- Pierpont syndrome ORPHA:487825
- Camptodactyly syndrome, Guadalajara type 3 ORPHA:488434
- Transketolase deficiency ORPHA:488618
- Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome ORPHA:488627
- TBCK-related intellectual disability syndrome ORPHA:488632
- TELO2-related intellectual disability-neurodevelopmental disorder ORPHA:488642
- RERE-related neurodevelopmental syndrome ORPHA:494344
- 9q33.3q34.11 microdeletion syndrome ORPHA:495818
- Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome ORPHA:495875
- Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ORPHA:496641
- Tall stature-intellectual disability-renal anomalies syndrome ORPHA:500095
- Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome ORPHA:500144
- Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome ORPHA:500150
- Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom ORPHA:500159
- Witteveen-Kolk syndrome ORPHA:500163
- 15q24 microdeletion syndrome ORPHA:94065
- SIN3-related intellectual disability syndrome due to a point mutation ORPHA:500166
- COG1-CDG ORPHA:263508
- Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome ORPHA:1495
- Crane-Heise syndrome ORPHA:1512
- Craniodigital-intellectual disability syndrome ORPHA:1514
- Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome ORPHA:1812
- Epiphyseal dysplasia-hearing loss-dysmorphism syndrome ORPHA:1825
- Paraplegia-intellectual disability-hyperkeratosis syndrome ORPHA:2824
- Floating-Harbor syndrome ORPHA:2044
- Fryns syndrome ORPHA:2059
- Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome ORPHA:52055
- X-linked creatine transporter deficiency ORPHA:52503
- Atelosteogenesis type II ORPHA:56304
- Atelosteogenesis type III ORPHA:56305
- Cerebrooculonasal syndrome ORPHA:66625
- Goldberg-Shprintzen megacolon syndrome ORPHA:66629
- Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome ORPHA:71267
- Mandibulofacial dysostosis-microcephaly syndrome ORPHA:79113
- Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome ORPHA:83617
- Keutel syndrome ORPHA:85202
- X-linked intellectual disability, Abidi type ORPHA:85273
- Syndromic X-linked intellectual disability 7 ORPHA:85274
- Microphthalmia-ankyloblepharon-intellectual disability syndrome ORPHA:85275
- X-linked intellectual disability, Armfield type ORPHA:85276
- Christianson syndrome ORPHA:85278
- KDM5C-related syndromic X-linked intellectual disability ORPHA:85279
- X-linked intellectual disability-cubitus valgus-dysmorphism syndrome ORPHA:85280
- X-linked intellectual disability, Stevenson type ORPHA:85325
- X-linked intellectual disability, Snyder type ORPHA:3063
- Severe X-linked intellectual disability, Gustavson type ORPHA:3078
- Van den Bosch syndrome ORPHA:3417
- Wieacker-Wolff syndrome ORPHA:3454
- Wilson-Turner syndrome ORPHA:3459
- ARX-related encephalopathy-brain malformation spectrum ORPHA:423655
- Corpus callosum agenesis-abnormal genitalia syndrome ORPHA:2508
- X-linked lissencephaly with abnormal genitalia ORPHA:452
- Keppen-Lubinsky syndrome ORPHA:435628
- Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome ORPHA:436245
- Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome ORPHA:457205
- Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome ORPHA:457212
- PMP22-RAI1 contiguous gene duplication syndrome ORPHA:477817
- Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome ORPHA:500533
- Lamb-Shaffer syndrome ORPHA:530983
- Developmental and speech delay due to SOX5 deficiency ORPHA:313892
- 12p12.1 microdeletion syndrome ORPHA:313884
- PRUNE1-related neurological syndrome ORPHA:544469
- Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome ORPHA:544488
- C syndrome ORPHA:1308
- X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome ORPHA:3055
- Intellectual disability, Buenos-Aires type ORPHA:3079
- Intellectual disability, Wolff type ORPHA:3080
- Richieri Costa-da Silva syndrome ORPHA:3101
- Ruvalcaba syndrome ORPHA:3121
- Say-Barber-Miller syndrome ORPHA:3132
- SCARF syndrome ORPHA:3134
- Omphalocele syndrome, Shprintzen-Goldberg type ORPHA:3164
- Microcephaly-brachydactyly-kyphoscoliosis syndrome ORPHA:3433
- MMEP syndrome ORPHA:3434
- Weaver-Williams syndrome ORPHA:3448
- Wiedemann-Rautenstrauch syndrome ORPHA:3455
- Zimmermann-Laband syndrome ORPHA:3473
- Brachydactyly-mesomelia-intellectual disability-heart defects syndrome ORPHA:1277
- Facial dysmorphism-shawl scrotum-joint laxity syndrome ORPHA:1778
- Intellectual disability-short stature-hypertelorism syndrome ORPHA:3074
- Microcephaly-seizures-intellectual disability-heart disease syndrome ORPHA:2519
- X-linked intellectual disability-plagiocephaly syndrome ORPHA:2898
- Cleft palate-short stature-vertebral anomalies syndrome ORPHA:2015
- Macrocephaly-short stature-paraplegia syndrome ORPHA:2427
- Fryns-Smeets-Thiry syndrome ORPHA:2058
- White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome ORPHA:3207
- Arachnodactyly-intellectual disability-dysmorphism syndrome ORPHA:1130
- Deafness-intellectual disability syndrome, Martin-Probst type ORPHA:85321
- X-linked intellectual disability, Pai type ORPHA:85322
- X-linked intellectual disability, Stoll type ORPHA:85326
- Brachydactyly-short stature-retinitis pigmentosa syndrome ORPHA:166035
- Familial scaphocephaly syndrome, McGillivray type ORPHA:168624
- Kagami-Ogata syndrome ORPHA:254519
- Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 ORPHA:96334
- Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion ORPHA:254528
- Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation ORPHA:254534
- 21q22.11q22.12 microdeletion syndrome ORPHA:261323
- Kleefstra syndrome ORPHA:261494
- Kleefstra syndrome due to 9q34 microdeletion ORPHA:96147
- Kleefstra syndrome due to a point mutation ORPHA:261652
- Multiple congenital anomalies-hypotonia-seizures syndrome ORPHA:280633
- 8q21.11 microdeletion syndrome ORPHA:284160
- Xp22.13p22.2 duplication syndrome ORPHA:284180
- Microtriplication 11q24.1 syndrome ORPHA:289522
- Blepharophimosis-intellectual disability syndrome ORPHA:293642
- Distal deletion 3p syndrome ORPHA:1620
- Blepharophimosis-intellectual disability syndrome, Ohdo type ORPHA:2728
- Blepharophimosis-intellectual disability syndrome, SBBYS type ORPHA:3047
- Blepharophimosis-intellectual disability syndrome, MKB type ORPHA:293707
- Blepharophimosis-intellectual disability syndrome, Verloes type ORPHA:293725
- SMARCA2-related blepharophimosis-intellectual disability syndrome ORPHA:637013
- 3MC syndrome ORPHA:293843
- Pontocerebellar hypoplasia type 11 ORPHA:611247
- Muenke syndrome ORPHA:53271
- Ogden syndrome ORPHA:276432
- Acromelic frontonasal dysplasia ORPHA:1827
- Pontocerebellar hypoplasia type 7 ORPHA:284339
- Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation ORPHA:300570
- Spondylo-ocular syndrome ORPHA:85194
- Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation ORPHA:642763
- GAPO syndrome ORPHA:2067
- Prominent glabella-microcephaly-hypogenitalism syndrome ORPHA:2083
- Oculofaciocardiodental syndrome ORPHA:2712
- Oculo-palato-cerebral syndrome ORPHA:2714
- Oculocerebral hypopigmentation syndrome, Cross type ORPHA:2719
- Oculocerebral hypopigmentation syndrome, Preus type ORPHA:2720
- Lethal omphalocele-cleft palate syndrome ORPHA:2736
- Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome ORPHA:2743
- Oliver syndrome ORPHA:2920
- Preaxial polydactyly-colobomata-intellectual disability syndrome ORPHA:2921
- Nicolaides-Baraitser syndrome ORPHA:3051
- Aymé-Gripp syndrome ORPHA:1272
- Arachnodactyly-abnormal ossification-intellectual disability syndrome ORPHA:1129
- Cataract-deafness-hypogonadism syndrome ORPHA:1383
- Caudal appendage-deafness syndrome ORPHA:1123
- Opitz GBBB syndrome ORPHA:2745
- Intellectual disability-polydactyly-uncombable hair syndrome ORPHA:3082
- CHIME syndrome ORPHA:3474
- Brachydactyly-nystagmus-cerebellar ataxia syndrome ORPHA:1246
- Smith-Lemli-Opitz syndrome ORPHA:818
- Congenital cataracts-facial dysmorphism-neuropathy syndrome ORPHA:48431
- X-linked intellectual disability, Miles-Carpenter type ORPHA:85283
- BRESEK syndrome ORPHA:85284
- X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome ORPHA:85317
- X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome ORPHA:85319
- X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome ORPHA:85329
- Fried syndrome ORPHA:85335
- Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome ORPHA:86818
- Sialidosis type 2 ORPHA:87876
- Otopalatodigital syndrome type 1 ORPHA:90650
- Otopalatodigital syndrome type 2 ORPHA:90652
- FG syndrome type 1 ORPHA:93932
- STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome ORPHA:502434
- Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome ORPHA:505237
- Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders ORPHA:505248
- Stromme syndrome ORPHA:506307
- Gabriele-de Vries syndrome ORPHA:506358
- 8q24.3 microdeletion syndrome ORPHA:508488
- Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome ORPHA:508498
- Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome ORPHA:508533
- Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome ORPHA:508542
- Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome ORPHA:513456
- Xq25 microduplication syndrome ORPHA:521258
- PLAA-associated neurodevelopmental disorder ORPHA:521426
- Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome ORPHA:529665
- 17q24.2 microdeletion syndrome ORPHA:529962
- Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome ORPHA:529965
- RNF13-related severe early-onset epileptic encephalopathy ORPHA:544503
- Pancreatic agenesis-holoprosencephaly syndrome ORPHA:556955
- Oculoskeletodental syndrome ORPHA:557003
- Congenital limbs-face contractures-hypotonia-developmental delay syndrome ORPHA:562528
- Anterior maxillary protrusion-strabismus-intellectual disability syndrome ORPHA:562559
- TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome ORPHA:562569
- Craniosynostosis-microretrognathia-severe intellectual disability syndrome ORPHA:565858
- Blepharophimosis-ptosis-epicanthus inversus syndrome plus ORPHA:572333
- SATB2-associated syndrome ORPHA:576278
- SATB2-associated syndrome due to a chromosomal rearrangement ORPHA:251028
- SATB2-associated syndrome due to a pathogenic variant ORPHA:576283
- QRICH1-related intellectual disability-chondrodysplasia syndrome ORPHA:580940
- Spondylometaphyseal dysplasia-corneal dystrophy syndrome ORPHA:589435
- Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome ORPHA:589442
- PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome ORPHA:589905
- TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome ORPHA:592570
- Menke-Hennekam syndrome ORPHA:592574
- Luscan-Lumish syndrome ORPHA:597738
- SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome ORPHA:597743
- KAT6B-related multiple congenital anomalies syndrome ORPHA:597749
- Blepharophimosis-intellectual disability syndrome, SBBYS type ORPHA:3047
- Genitopatellar syndrome ORPHA:85201
- Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome ORPHA:597746
- Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome ORPHA:598603
- CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome ORPHA:599082
- CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome ORPHA:600668
- Clark-Baraitser syndrome ORPHA:600731
- Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome ORPHA:603448
- KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome ORPHA:603684
- KLHL7-related Bohring-Opitz-like syndrome ORPHA:603689
- CHARGE syndrome ORPHA:138
- Carey-Fineman-Ziter syndrome ORPHA:1358
- Autosomal dominant popliteal pterygium syndrome ORPHA:1300
- Cerebrocostomandibular syndrome ORPHA:1393
- Joubert syndrome with hepatic defect ORPHA:1454
- Cantú syndrome ORPHA:1517
- Curry-Jones syndrome ORPHA:1553
- Restrictive dermopathy ORPHA:1662
- Hypomandibular faciocranial dysostosis ORPHA:1790
- Frontometaphyseal dysplasia ORPHA:1826
- Focal dermal hypoplasia ORPHA:2092
- Pallister-Hall syndrome ORPHA:672
- Marshall-Smith syndrome ORPHA:561
- Mietens syndrome ORPHA:2557
- Oculodentodigital dysplasia ORPHA:2710
- Short stature-wormian bones-dextrocardia syndrome ORPHA:2863
- Schinzel-Giedion syndrome ORPHA:798
- Ulnar-mammary syndrome ORPHA:3138
- Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN ORPHA:675782
- PRC-2 complex-related overgrowth spectrum ORPHA:659387
- Weaver syndrome ORPHA:3447
- Cohen-Gibson syndrome ORPHA:659396
- Imagawa-Matsumoto syndrome ORPHA:659463
- Rauch-Steindl syndrome ORPHA:659642
- Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome ORPHA:659609
- Neurooculocardiogenitourinary syndrome ORPHA:684305
- Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome ORPHA:684232
- Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome ORPHA:684216
- Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome ORPHA:684226
- 2q13 microdeletion syndrome ORPHA:684742
- 10p13-p14 deletion syndrome ORPHA:687695
- ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to 10p15.3 microdeletion ORPHA:687424
- BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome ORPHA:686482
- RNU4-2-related neurodevelopmental disorder-facial dysmorphism-white matter abnormalities-short stature syndrome ORPHA:686488
- MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome ORPHA:686495
- Combined immunodeficiency due to TBX1 deficiency ORPHA:685017
- Turnpenny-Fry syndrome ORPHA:688642
- Okur-Chung neurodevelopmental syndrome ORPHA:689422
- Poirier-Bienvenue neurodevelopmental syndrome ORPHA:689397
- Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome ORPHA:689829
- Shashi-Pena syndrome ORPHA:689408
- 3q26q28 deletion syndrome ORPHA:695611
- CHAMP1-related intellectual disability-facial dysmorphism-behavioral abnormalities syndrome ORPHA:692193
- Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome ORPHA:1014
- Aniridia-renal agenesis-psychomotor retardation syndrome ORPHA:1064
- Intellectual disability-spasticity-ectrodactyly syndrome ORPHA:1891
- Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome ORPHA:1964
- Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome ORPHA:1970
- Faciocardiorenal syndrome ORPHA:1973
- Acrocardiofacial syndrome ORPHA:2008
- Kapur-Toriello syndrome ORPHA:2328
- KBG syndrome ORPHA:2332
- Pseudoprogeria syndrome ORPHA:2985
- Pterygium colli-intellectual disability-digital anomalies syndrome ORPHA:2988
- Qazi-Markouizos syndrome ORPHA:3010
- Ramon syndrome ORPHA:3019
- Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome ORPHA:3038
- Intellectual disability-balding-patella luxation-acromicria syndrome ORPHA:3041
- Radioulnar synostosis-developmental delay-hypotonia syndrome ORPHA:3270
- Telecanthus-hypertelorism-strabismus-pes cavus syndrome ORPHA:3293
- Fallot complex-intellectual disability-growth delay syndrome ORPHA:3304
- Trichomegaly-retina pigmentary degeneration-dwarfism syndrome ORPHA:3363
- Trigonocephaly-short stature-developmental delay syndrome ORPHA:3369
- Ulbright-Hodes syndrome ORPHA:3404
- Urban-Rogers-Meyer syndrome ORPHA:3409
- VACTERL with hydrocephalus ORPHA:3412
- Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome ORPHA:73246
- Brain malformation-congenital heart disease-postaxial polydactyly syndrome ORPHA:75389
- Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia ORPHA:94066
- Biemond syndrome type 2 ORPHA:141333
- Zechi-Ceide syndrome ORPHA:217017
- 17q21.31 microduplication syndrome ORPHA:217340
- 19q13.11 microdeletion syndrome ORPHA:217346
- Microduplication Xp11.22p11.23 syndrome ORPHA:217377
- 17p13.3 microduplication syndrome ORPHA:217385
- Pseudoaminopterin syndrome ORPHA:221120
- 2q23.1 microdeletion syndrome ORPHA:228402
- Syndromic multisystem autoimmune disease due to Itch deficiency ORPHA:228426
- Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome ORPHA:324416
- Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome ORPHA:324540
- Microcephalic primordial dwarfism ORPHA:324761
- Seckel syndrome ORPHA:808
- Ear-patella-short stature syndrome ORPHA:2554
- Microcephalic primordial dwarfism, Toriello type ORPHA:2643
- Microcephalic osteodysplastic primordial dwarfism types I and III ORPHA:2636
- Microcephalic osteodysplastic primordial dwarfism type II ORPHA:2637
- Microcephalic osteodysplastic dysplasia, Saul-Wilson type ORPHA:85172
- Alazami syndrome ORPHA:319671
- Microcephalic primordial dwarfism, Dauber type ORPHA:319675
- Microcephalic primordial dwarfism due to ZNF335 deficiency ORPHA:329228
- Microcephalic cortical malformations-short stature due to RTTN deficiency ORPHA:468631
- DNMT3A-related microcephalic dwarfism ORPHA:658595
- DONSON-related microcephaly-short stature-limb abnormalities spectrum ORPHA:572761
- Schuurs-Hoeijmakers syndrome ORPHA:329224
- Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome ORPHA:329332
- 5p13 microduplication syndrome ORPHA:329802
- Autism spectrum disorder due to AUTS2 deficiency ORPHA:352490
- Bainbridge-Ropers syndrome ORPHA:352577
- Focal epilepsy-intellectual disability-cerebro-cerebellar malformation ORPHA:352587
- 19p13.13 microdeletion syndrome ORPHA:357001
- Short ulna-dysmorphism-hypotonia-intellectual disability syndrome ORPHA:357175
- THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome ORPHA:363444
- Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome ORPHA:352530
- Intellectual disability-strabismus syndrome ORPHA:363528
- Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome ORPHA:369939
- FOXP1 Syndrome ORPHA:391372
- Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome ORPHA:391408
- MEND syndrome ORPHA:401973
- Down syndrome ORPHA:870
- Fragile X syndrome ORPHA:908
- Williams syndrome ORPHA:904
- Wolf-Hirschhorn syndrome ORPHA:280
- Rubinstein-Taybi syndrome ORPHA:783
- Rubinstein-Taybi syndrome due to CREBBP mutations ORPHA:353277
- Rubinstein-Taybi syndrome due to 16p13.3 microdeletion ORPHA:353281
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ORPHA:353284
- WAGR syndrome ORPHA:893
- Coffin-Lowry syndrome ORPHA:192
- Cornelia de Lange syndrome ORPHA:199
- Holoprosencephaly ORPHA:2162
- Lobar holoprosencephaly ORPHA:93924
- Alobar holoprosencephaly ORPHA:93925
- Midline interhemispheric variant of holoprosencephaly ORPHA:93926
- Semilobar holoprosencephaly ORPHA:220386
- Septopreoptic holoprosencephaly ORPHA:280195
- Coffin-Siris syndrome ORPHA:1465
- Progressive epilepsy-intellectual disability syndrome, Finnish type ORPHA:1947
- Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome ORPHA:2773
- Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome ORPHA:3085
- Smith-Magenis syndrome ORPHA:819
- Acrocallosal syndrome ORPHA:36
- Cohen syndrome ORPHA:193
- Cooper-Jabs syndrome ORPHA:1488
- Dubowitz syndrome ORPHA:235
- Hypogonadism-mitral valve prolapse-intellectual disability syndrome ORPHA:2233
- Trichorhinophalangeal syndrome type 2 ORPHA:502
- Laurence-Moon syndrome ORPHA:2377
- Costello syndrome ORPHA:3071
- Proximal Xq28 duplication syndrome ORPHA:1762
- Epilepsy-microcephaly-skeletal dysplasia syndrome ORPHA:1948
- Epilepsy-telangiectasia syndrome ORPHA:1951
- 3C syndrome ORPHA:7
- Agnathia-holoprosencephaly-situs inversus syndrome ORPHA:990
- Hall-Riggs syndrome ORPHA:2107
- Harrod syndrome ORPHA:2115
- Hartsfield syndrome ORPHA:2117
- Hennekam syndrome ORPHA:2136
- Hernández-Aguirre Negrete syndrome ORPHA:2139
- Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome ORPHA:2278
- Dysmorphism-short stature-deafness-difference of sex development syndrome ORPHA:2282
- Johanson-Blizzard syndrome ORPHA:2315
- Johnson neuroectodermal syndrome ORPHA:2316
- Kabuki syndrome ORPHA:2322
- Sanjad-Sakati syndrome ORPHA:2323
- Upper limb defect-eye and ear abnormalities syndrome ORPHA:2489
- Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome ORPHA:3044
- Holoprosencephaly-radial heart renal anomalies syndrome ORPHA:3186
- Stimmler syndrome ORPHA:3199
- Fountain syndrome ORPHA:3219
- Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome ORPHA:3224
- Renpenning syndrome ORPHA:3242
- X-linked intellectual disability, Porteous type ORPHA:93945
- Hamel cerebro-palato-cardiac syndrome ORPHA:93946
- X-linked intellectual disability, Golabi-Ito-Hall type ORPHA:93947
- X-linked intellectual disability, Sutherland-Haan type ORPHA:93950
- Filippi syndrome ORPHA:3255
- CTCF-related neurodevelopmental disorder ORPHA:363611
- 20q11.2 microduplication syndrome ORPHA:363659
- 2p13.2 microdeletion syndrome ORPHA:363680
- Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome ORPHA:363686
- Craniofaciofrontodigital syndrome ORPHA:363705
- Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome ORPHA:363741
- X-linked intellectual disability due to GRIA3 mutations ORPHA:364028
- Intellectual disability-brachydactyly-Pierre Robin syndrome ORPHA:364577
- Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome ORPHA:369837
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency ORPHA:369891
- Intellectual disability-seizures-macrocephaly-obesity syndrome ORPHA:369950
- Intellectual disability-facial dysmorphism-hand anomalies syndrome ORPHA:370010
- SSR4-CDG ORPHA:370927
- XYLT1-CDG ORPHA:370930
- Hypotonia-speech impairment-severe cognitive delay syndrome ORPHA:371364
- Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome ORPHA:391307
- Macrocephaly-developmental delay syndrome ORPHA:397612
- Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome ORPHA:397709
- Microcephaly-thin corpus callosum-intellectual disability syndrome ORPHA:397951
- Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome ORPHA:397973
- 9q31.1q31.3 microdeletion syndrome ORPHA:401923
- 14q24.1q24.3 microdeletion syndrome ORPHA:401935
- Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency ORPHA:404440
- Tatton-Brown-Rahman syndrome ORPHA:404443
- ADNP syndrome ORPHA:404448
- FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome ORPHA:404451
- Intellectual disability-peripheral spasticity-exudative vitreoretinopathy syndrome ORPHA:404473
- Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome ORPHA:411986
- 13q12.3 microdeletion syndrome ORPHA:412035
- Temple-Baraitser syndrome ORPHA:420561
- Cono-spondylar dysplasia ORPHA:420794
- Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome ORPHA:423306
- 22q11.2 deletion syndrome ORPHA:567
- Prader-Willi syndrome ORPHA:739
- Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 ORPHA:98754
- Prader-Willi syndrome due to paternal 15q11q13 deletion ORPHA:98793
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 ORPHA:177901
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 ORPHA:177904
- Prader-Willi syndrome due to translocation ORPHA:177907
- Prader-Willi syndrome due to imprinting mutation ORPHA:177910
- Noonan syndrome ORPHA:648
- Microphthalmia, Lenz type ORPHA:568
- Aarskog-Scott syndrome ORPHA:915
- Cutaneous mastocytosis-deafness-microtia syndrome ORPHA:2135
- Moebius syndrome ORPHA:570
- Silver-Russell syndrome ORPHA:813
- Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 ORPHA:96182
- Silver-Russell syndrome due to 7p11.2p13 microduplication ORPHA:231137
- Silver-Russell syndrome due to an imprinting defect of 11p15 ORPHA:231140
- Silver-Russell syndrome due to 11p15 microduplication ORPHA:231144
- Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 ORPHA:231147
- Silver-Russell syndrome due to a point mutation ORPHA:397590
- Sotos syndrome ORPHA:821
- Ablepharon macrostomia syndrome ORPHA:920
- Hypoglossia-hypodactyly syndrome ORPHA:989
- Distal limb deficiencies-micrognathia syndrome ORPHA:1307
- Campomelia, Cumming type ORPHA:1318
- Hallermann-Streiff syndrome ORPHA:2108
- Hallermann-Streiff-like syndrome ORPHA:2109
- Donnai-Barrow syndrome ORPHA:2143
- Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome ORPHA:2180
- Isotretinoin-like syndrome ORPHA:2306
- Autosomal dominant primary microcephaly ORPHA:2514
- Noonan syndrome-like disorder with loose anagen hair ORPHA:2701
- SHORT syndrome ORPHA:3163
- Toriello-Carey syndrome ORPHA:3338
- Kallmann syndrome-heart disease syndrome ORPHA:2326
- Occipital horn syndrome ORPHA:198
- PHACE syndrome ORPHA:42775
- Char syndrome ORPHA:46627
- Bosley-Salih-Alorainy syndrome ORPHA:69737
- Anophthalmia/microphthalmia-esophageal atresia syndrome ORPHA:77298
- Combined immunodeficiency with facio-oculo-skeletal anomalies ORPHA:221139
- Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome ORPHA:228410
- 6q25.1 microdeletion syndrome ORPHA:664404
- Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation ORPHA:664401
- Roifman syndrome ORPHA:353298
- Prader-Willi-like syndrome ORPHA:398073
- CPE-related Prader-Willi-like syndrome ORPHA:633028
- 6q16 microdeletion syndrome ORPHA:171829
- SIM1-related Prader-Willi-like syndrome ORPHA:398079
- Schaaf-Yang syndrome ORPHA:398069
- 1p31p32 microdeletion syndrome ORPHA:401986
- Malan overgrowth syndrome ORPHA:420179
- Acrodysostosis ORPHA:950
- Fibrodysplasia ossificans progressiva ORPHA:337
- Joubert syndrome with ocular defect ORPHA:220493
- Autosomal recessive primary microcephaly ORPHA:2512
- Mosaic variegated aneuploidy syndrome ORPHA:1052
- Joubert syndrome with oculorenal defect ORPHA:2318
- Desmosterolosis ORPHA:35107
- Dyggve-Melchior-Clausen disease ORPHA:239
- Vici syndrome ORPHA:1493
- Fanconi anemia ORPHA:84
- Apert syndrome ORPHA:87
- Nijmegen breakage syndrome ORPHA:647
- Joubert syndrome with renal defect ORPHA:220497
- Zellweger syndrome ORPHA:912
- Lathosterolosis ORPHA:46059
- Corpus callosum agenesis-neuronopathy syndrome ORPHA:1496
- Maternal phenylketonuria syndrome ORPHA:2209
- Pontocerebellar hypoplasia type 10 ORPHA:411493
- RIN2 syndrome ORPHA:217335
- Adams-Oliver syndrome ORPHA:974
- Frontonasal dysplasia-alopecia-genital anomalies syndrome ORPHA:228390
- Wolcott-Rallison syndrome ORPHA:1667
- Roberts syndrome ORPHA:3103
- Shwachman-Diamond syndrome ORPHA:811
- Pontocerebellar hypoplasia type 13 ORPHA:613267
- Pontocerebellar hypoplasia type 14 ORPHA:613274
- Hereditary persistence of fetal hemoglobin-intellectual disability syndrome ORPHA:619233
- KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome ORPHA:633004
- Intellectual disability-early-onset cataract-microcephaly syndrome ORPHA:633035
- Mesomelic dysplasia-digital anomalies-intellectual disability syndrome ORPHA:632603
- CHD8 overgrowth syndrome ORPHA:642675
- Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome ORPHA:662234
- Craniofrontonasal dysplasia ORPHA:1520
- X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome ORPHA:1568
- X-linked alpha-thalassemia-intellectual disability syndrome ORPHA:847
- Simpson-Golabi-Behmel syndrome ORPHA:373
- Peters plus syndrome ORPHA:709
- Lujan-Fryns syndrome ORPHA:776
- Uveal coloboma-cleft lip and palate-intellectual disability ORPHA:1473
- Thumb stiffness-brachydactyly-intellectual disability syndrome ORPHA:1078
- Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome ORPHA:1110
- X-linked mandibulofacial dysostosis ORPHA:1131
- Ataxia-photosensitivity-short stature syndrome ORPHA:1184
- Atkin-Flaitz syndrome ORPHA:1193
- Bannayan-Riley-Ruvalcaba syndrome ORPHA:109
- Congenital intrauterine infection-like syndrome ORPHA:1229
- Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome ORPHA:1236
- Blepharonasofacial malformation syndrome ORPHA:1252
- Bonnemann-Meinecke-Reich syndrome ORPHA:1261
- Borjeson-Forssman-Lehmann syndrome ORPHA:127
- Bowen-Conradi syndrome ORPHA:1270
- Lambert syndrome ORPHA:1296
- Branchioskeletogenital syndrome ORPHA:1299
- Feingold syndrome ORPHA:1305
- Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome ORPHA:1321
- Cardiofaciocutaneous syndrome ORPHA:1340
- Congenital heart defect-round face-developmental delay syndrome ORPHA:1355
- Cataract-intellectual disability-anal atresia-urinary defects syndrome ORPHA:1381
- Cataract-intellectual disability-hypogonadism syndrome ORPHA:1387
- Catel-Manzke syndrome ORPHA:1388
- Cortical blindness-intellectual disability-polydactyly syndrome ORPHA:1389
- Cerebrofaciothoracic dysplasia ORPHA:1394
- Richards-Rundle syndrome ORPHA:1399
- Cryptorchidism-arachnodactyly-intellectual disability syndrome ORPHA:1548
- Temtamy syndrome ORPHA:1777
- Acrofacial dysostosis, Catania type ORPHA:1786
- Acrofacial dysostosis, Rodríguez type ORPHA:1788
- W syndrome ORPHA:2804
- Short stature-webbed neck-heart disease syndrome ORPHA:2865
- Pfeiffer-Palm-Teller syndrome ORPHA:2871
- Cardiocranial syndrome, Pfeiffer type ORPHA:2872
- Pitt-Hopkins syndrome ORPHA:2896
- X-linked intellectual disability, Shashi type ORPHA:85286
- X-linked intellectual disability, Siderius type ORPHA:85287
- X-linked intellectual disability, Cabezas type ORPHA:85293
- Distal deletion 6p syndrome ORPHA:96125
- Koolen-De Vries syndrome ORPHA:96169
- 17q21.31 microdeletion syndrome ORPHA:363958
- Koolen-De Vries syndrome due to a point mutation ORPHA:363965
- Bohring-Opitz syndrome ORPHA:97297
- 15q13.3 microdeletion syndrome ORPHA:199318
- Behr syndrome ORPHA:1239
- Nance-Horan syndrome ORPHA:627
- Campomelic dysplasia ORPHA:140
- Microphthalmia with limb anomalies ORPHA:1106
- Antley-Bixler syndrome ORPHA:83
- Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis ORPHA:63269
- Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis ORPHA:596008
- Brachymorphism-onychodysplasia-dysphalangism syndrome ORPHA:1292
- Angelman syndrome ORPHA:72
- Angelman syndrome due to maternal 15q11q13 deletion ORPHA:98794
- Angelman syndrome due to paternal uniparental disomy of chromosome 15 ORPHA:98795
- Angelman syndrome due to a point mutation ORPHA:411511
- Angelman syndrome due to imprinting defect in 15q11-q13 ORPHA:411515
- Difference of sex development-intellectual disability syndrome ORPHA:2983
- Cockayne syndrome ORPHA:191
- COFS syndrome ORPHA:1466
- Cockayne syndrome type 1 ORPHA:90321
- Cockayne syndrome type 2 ORPHA:90322
- Cockayne syndrome type 3 ORPHA:90324
- 48,XXYY syndrome ORPHA:10
- Ring chromosome 10 syndrome ORPHA:1438
- 17p11.2 microduplication syndrome ORPHA:1713
- 2q37 microdeletion syndrome ORPHA:1001
- Alopecia-contractures-dwarfism-intellectual disability syndrome ORPHA:1005
- Aniridia-ptosis-intellectual disability-familial obesity syndrome ORPHA:1067
- Aniridia-intellectual disability syndrome ORPHA:1068
- Contractures-ectodermal dysplasia-cleft lip/palate syndrome ORPHA:1484
- Hidrotic ectodermal dysplasia, Halal type ORPHA:1809
- Skeletal dysplasia-epilepsy-short stature syndrome ORPHA:1858
- Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome ORPHA:1816
- Hepatic fibrosis-renal cysts-intellectual disability syndrome ORPHA:2031
- Galloway-Mowat syndrome ORPHA:2065
- GMS syndrome ORPHA:2090
- Grubben-de Cock-Borghgraef syndrome ORPHA:2101
- Nodular neuronal heterotopia ORPHA:2149
- Periventricular nodular heterotopia ORPHA:98892
- Sub-cortical nodular heterotopia ORPHA:101029
- Subependymal nodular heterotopia ORPHA:101030
- Hypotrichosis-intellectual disability, Lopes type ORPHA:2266
- Osteopenia-intellectual disability-sparse hair syndrome ORPHA:2324
- Megalocornea-intellectual disability syndrome ORPHA:2479
- Genetic congenital limb malformation ORPHA:183536
- Non-syndromic limb malformation ORPHA:109011
- Isolated patella aplasia/hypoplasia ORPHA:86789
- Non-syndromic limb reduction defect ORPHA:93457
- Non-syndromic longitudinal limb defect ORPHA:498457
- Non-syndromic hemimelia ORPHA:2130
- Isolated ulnar hemimelia ORPHA:93320
- Isolated radial hemimelia ORPHA:93321
- Isolated tibial hemimelia ORPHA:93322
- Isolated fibular hemimelia ORPHA:93323
- Isolated hypoplasia of thumb ORPHA:294988
- Non-syndromic terminal transverse limb defect ORPHA:498461
- Non-syndromic complete hemimelia ORPHA:498491
- Isolated absence of both forearm and hand ORPHA:294979
- Isolated absence of both lower leg and foot ORPHA:294981
- Isolated acheiria ORPHA:294983
- Isolated apodia ORPHA:294986
- Non-syndromic amelia ORPHA:294925
- Isolated amelia of upper limb ORPHA:294967
- Isolated amelia of lower limb ORPHA:294969
- Isolated tetra-amelia ORPHA:294971
- Isolated absence/hypoplasia of fingers excluding thumb, unilateral ORPHA:973
- Isolated acheiropodia ORPHA:931
- Non-syndromic intercalary limb defects ORPHA:294927
- Isolated humeral agenesis/hypoplasia ORPHA:294973
- Isolated absence of upper arm and forearm with hand present ORPHA:294975
- Isolated absence of thigh and lower leg with foot present ORPHA:294977
- Isolated femoral agenesis/hypoplasia ORPHA:1987
- Isolated proximal femoral focal deficiency ORPHA:633228
- Isolated congenital femoral bifurcation ORPHA:667589
- Non-syndromic polydactyly, syndactyly and/or hyperphalangy ORPHA:93458
- Non-syndromic polydactyly ORPHA:2913
- Non-syndromic preaxial polydactyly ORPHA:498464
- Polydactyly of a triphalangeal thumb ORPHA:93336
- Polydactyly of an index finger ORPHA:93337
- Polysyndactyly ORPHA:93338
- Polydactyly of a biphalangeal thumb and/or hallux ORPHA:93339
- Non-syndromic postaxial polydactyly ORPHA:498467
- Non-syndromic complex polydactyly ORPHA:498470
- Non-syndromic syndactyly ORPHA:90025
- Syndactyly type 8 ORPHA:2498
- Syndactyly type 1 ORPHA:93402
- Zygodactyly type 1 ORPHA:295187
- Zygodactyly type 2 ORPHA:295189
- Zygodactyly type 3 ORPHA:295191
- Zygodactyly type 4 ORPHA:295193
- Syndactyly type 2 ORPHA:93403
- Synpolydactyly type 1 ORPHA:295195
- Synpolydactyly type 2 ORPHA:295197
- Synpolydactyly type 3 ORPHA:295199
- Syndactyly type 3 ORPHA:93404
- Syndactyly type 4 ORPHA:93405
- Syndactyly type 5 ORPHA:93406
- Mesoaxial synostotic syndactyly with phalangeal reduction ORPHA:157801
- Syndactyly type 6 ORPHA:295012
- Isolated hyperphalangy ORPHA:295002
- Isolated pseudoarthrosis of the limbs ORPHA:157808
- Congenital pseudoarthrosis of the tibia ORPHA:295018
- Congenital pseudoarthrosis of the femur ORPHA:295020
- Congenital pseudoarthrosis of the fibula ORPHA:295022
- Congenital pseudoarthrosis of the radius ORPHA:295024
- Congenital pseudoarthrosis of the ulna ORPHA:295026
- Congenital deformities of limbs ORPHA:294944
- Congenital vertical talus ORPHA:178382
- Congenital vertical talus, unilateral ORPHA:295201
- Congenital vertical talus, bilateral ORPHA:295203
- Congenital deformities of fingers ORPHA:294947
- Non-syndromic joint formation defects ORPHA:294949
- Isolated distal symphalangism ORPHA:3248
- Isolated humero-radial synostosis ORPHA:3265
- Isolated humero-radio-ulnar synostosis ORPHA:3266
- Isolated radio-ulnar synostosis ORPHA:3269
- Isolated humero-ulnar synostosis ORPHA:94056
- Isolated tibio-fibular synostosis ORPHA:295028
- Congenital joint dislocations ORPHA:294951
- True congenital shoulder dislocation ORPHA:295030
- Isolated congenital radial head dislocation ORPHA:295032
- Congenital elbow dislocation, unilateral ORPHA:295225
- Congenital elbow dislocation, bilateral ORPHA:295227
- Congenital knee dislocation ORPHA:295034
- Congenital patella dislocation ORPHA:295036
- Non-syndromic limb overgrowth ORPHA:294953
- Macrodactyly of fingers ORPHA:295044
- Macrodactyly of toes ORPHA:295047
- Upper limb hypertrophy ORPHA:295049
- Lower limb hypertrophy ORPHA:295051
- Bipartite talus ORPHA:364198
- Genetic syndrome with limb malformations as a major feature ORPHA:404577
- Fetal encasement syndrome ORPHA:465824
- Camptodactyly-taurinuria syndrome ORPHA:1325
- Emery-Nelson syndrome ORPHA:1927
- Thumb deformity-alopecia-pigmentation anomaly syndrome ORPHA:2251
- Extensor tendons of finger anomalies ORPHA:3294
- Dysostosis with brachydactyly ORPHA:69028
- Dysostosis with brachydactyly without extraskeletal manifestations ORPHA:498451
- Symbrachydactyly of hands and feet ORPHA:1570
- Brachydactyly-elbow wrist dysplasia syndrome ORPHA:1275
- Preaxial digit brachydactyly-webbed fingers ORPHA:633211
- Brachydactyly type A2 ORPHA:93396
- Brachydactyly type A4 ORPHA:93394
- Brachydactyly type A6 ORPHA:93382
- Brachydactyly type A7 ORPHA:93397
- Brachydactyly type B ORPHA:93383
- Sugarman brachydactyly ORPHA:498602
- Mononen-Karnes-Senac syndrome ORPHA:2565
- Familial digital arthropathy-brachydactyly ORPHA:85169
- Brachydactyly type A1 ORPHA:93388
- Brachydactyly type C ORPHA:93384
- Brachydactyly type E ORPHA:93387
- Cooks syndrome ORPHA:1487
- Camptobrachydactyly ORPHA:1319
- Dysostosis with brachydactyly with extraskeletal manifestations ORPHA:498454
- Brachydactyly-preaxial hallux varus syndrome ORPHA:1278
- Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies ORPHA:589608
- Brachydactyly-short stature-retinitis pigmentosa syndrome ORPHA:166035
- Mammary-digital-nail syndrome ORPHA:238744
- Rubinstein-Taybi syndrome ORPHA:783
- Rubinstein-Taybi syndrome due to CREBBP mutations ORPHA:353277
- Rubinstein-Taybi syndrome due to 16p13.3 microdeletion ORPHA:353281
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ORPHA:353284
- Coffin-Siris syndrome ORPHA:1465
- 2q37 microdeletion syndrome ORPHA:1001
- Hyperphosphatasia-intellectual disability syndrome ORPHA:247262
- Brachydactyly-arterial hypertension syndrome ORPHA:1276
- Temtamy preaxial brachydactyly syndrome ORPHA:363417
- Thumb stiffness-brachydactyly-intellectual disability syndrome ORPHA:1078
- Brachymorphism-onychodysplasia-dysphalangism syndrome ORPHA:1292
- Microcephaly-brachydactyly-kyphoscoliosis syndrome ORPHA:3433
- Feingold syndrome ORPHA:1305
- Hand-foot-genital syndrome ORPHA:2438
- Adams-Oliver syndrome ORPHA:974
- Brachytelephalangy-dysmorphism-Kallmann syndrome ORPHA:1295
- Poland syndrome ORPHA:2911
- Acrodysplasia scoliosis ORPHA:2956
- Ulnar/fibula ray defect-brachydactyly syndrome ORPHA:52056
- Skeletal dysplasia-epilepsy-short stature syndrome ORPHA:1858
- Brachydactyly-long thumb syndrome ORPHA:2946
- Syndrome with synostosis or other joint formation defect ORPHA:93459
- B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome ORPHA:75496
- Banki syndrome ORPHA:1228
- Brachydactyly-elbow wrist dysplasia syndrome ORPHA:1275
- Tarsal-carpal coalition syndrome ORPHA:1412
- OSLAM syndrome ORPHA:2760
- Leri pleonosteosis ORPHA:2900
- Multiple synostoses syndrome ORPHA:3237
- Symphalangism with multiple anomalies of hands and feet ORPHA:3246
- Proximal symphalangism ORPHA:3250
- Radioulnar synostosis-microcephaly-scoliosis syndrome ORPHA:3268
- Radioulnar synostosis-developmental delay-hypotonia syndrome ORPHA:3270
- Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome ORPHA:71289
- WT limb-blood syndrome ORPHA:3466
- Arthrogryposis syndrome ORPHA:109007
- Distal arthrogryposis ORPHA:97120
- Arthrogryposis-ectodermal dysplasia syndrome ORPHA:3200
- Congenital limbs-face contractures-hypotonia-developmental delay syndrome ORPHA:562528
- Pelvic dysplasia-arthrogryposis of lower limbs syndrome ORPHA:2840
- Distal arthrogryposis type 1 ORPHA:1146
- Sheldon-Hall syndrome ORPHA:1147
- Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome ORPHA:1154
- Freeman-Sheldon syndrome ORPHA:2053
- Arthrogryposis-like hand anomaly-sensorineural deafness syndrome ORPHA:1144
- Congenital contractural arachnodactyly ORPHA:115
- Gordon syndrome ORPHA:376
- Trismus-pseudocamptodactyly syndrome ORPHA:3377
- Musculocontractural Ehlers-Danlos syndrome ORPHA:2953
- Arthrogryposis-severe scoliosis syndrome ORPHA:65720
- Distal arthrogryposis type 10 ORPHA:251515
- Distal arthrogryposis type 5D ORPHA:329457
- Autism spectrum disorder-epilepsy-arthrogryposis syndrome ORPHA:370943
- Autosomal dominant multiple pterygium syndrome ORPHA:65743
- Multiple pterygium syndrome ORPHA:294060
- Autosomal recessive multiple pterygium syndrome ORPHA:2990
- Lethal multiple pterygium syndrome ORPHA:33108
- Autosomal dominant multiple pterygium syndrome ORPHA:65743
- X-linked lethal multiple pterygium syndrome ORPHA:79447
- Popliteal pterygium syndrome ORPHA:294963
- Lethal congenital contracture syndrome ORPHA:294965
- Lethal congenital contracture syndrome type 1 ORPHA:1486
- Lethal congenital contracture syndrome type 2 ORPHA:137776
- Lethal congenital contracture syndrome type 3 ORPHA:137783
- German syndrome ORPHA:2077
- Arthrogryposis multiplex congenita ORPHA:1037
- Microphthalmia-microtia-fetal akinesia syndrome ORPHA:2547
- Neurogenic arthrogryposis multiplex congenita ORPHA:1143
- Infantile-onset X-linked spinal muscular atrophy ORPHA:1145
- Kuskokwim syndrome ORPHA:1149
- Arthrogryposis multiplex congenita-whistling face syndrome ORPHA:1150
- Multiple pterygium-malignant hyperthermia syndrome ORPHA:2215
- Marden-Walker syndrome ORPHA:2461
- Arthrogryposis-renal dysfunction-cholestasis syndrome ORPHA:2697
- Adducted thumbs-arthrogryposis syndrome, Christian type ORPHA:2952
- Van den Ende-Gupta syndrome ORPHA:2460
- Wieacker-Wolff syndrome ORPHA:3454
- Arthrogryposis-hyperkeratosis syndrome, lethal form ORPHA:1485
- Hypomyelination neuropathy-arthrogryposis syndrome ORPHA:2680
- Arthrogryposis-anterior horn cell disease syndrome ORPHA:53696
- Autosomal recessive myogenic arthrogryposis multiplex congenita ORPHA:319332
- Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome ORPHA:439897
- Fetal akinesia deformation sequence ORPHA:994
- Congenital lethal myopathy, Compton-North type ORPHA:210163
- Pontocerebellar hypoplasia type 12 ORPHA:611256
- MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome ORPHA:498693
- KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome ORPHA:610569
- Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome ORPHA:664923
- Prenatal-onset spinal muscular atrophy with congenital bone fractures ORPHA:486811
- Familial clubfoot with or without associated lower limb anomalies ORPHA:199315
- Familial clubfoot due to 17q23.1q23.2 microduplication ORPHA:238578
- Familial clubfoot due to 5q31 microdeletion ORPHA:293144
- Familial clubfoot due to PITX1 point mutation ORPHA:293150
- Heart-hand syndrome ORPHA:228184
- Holt-Oram syndrome ORPHA:392
- Heart-hand syndrome type 3 ORPHA:1342
- Heart-hand syndrome type 2 ORPHA:1350
- Brachydactyly-long thumb syndrome ORPHA:2946
- Heart-hand syndrome, Slovenian type ORPHA:168796
- Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome ORPHA:228190
- Carney complex-trismus-pseudocamptodactyly syndrome ORPHA:319340
- Dysostosis with combined reduction defects of upper and lower limbs ORPHA:294957
- Fibular aplasia-ectrodactyly syndrome ORPHA:1118
- Radial deficiency-tibial hypoplasia syndrome ORPHA:1121
- Ulnar hypoplasia-split foot syndrome ORPHA:1122
- Gollop-Wolfgang complex ORPHA:1986
- Femur-fibula-ulna complex ORPHA:2019
- Tibial aplasia-ectrodactyly syndrome ORPHA:3329
- Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy ORPHA:294959
- Greig cephalopolysyndactyly-contiguous gene syndrome ORPHA:658805
- B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome ORPHA:567502
- Acropectoral syndrome ORPHA:85203
- Brachydactyly-syndactyly, Zhao type ORPHA:93409
- Syndactyly-telecanthus-anogenital and renal malformations syndrome ORPHA:140952
- Orofaciodigital syndrome ORPHA:140997
- Orofaciodigital syndrome type 1 ORPHA:2750
- Orofaciodigital syndrome type 2 ORPHA:2751
- Orofaciodigital syndrome type 4 ORPHA:2753
- Orofaciodigital syndrome type 6 ORPHA:2754
- Orofaciodigital syndrome type 8 ORPHA:2755
- Orofaciodigital syndrome type 5 ORPHA:2919
- Orofaciodigital syndrome type 11 ORPHA:141000
- Orofaciodigital syndrome type 9 ORPHA:141007
- Orofaciodigital syndrome type 14 ORPHA:434179
- Oral-facial-digital syndrome with short stature and brachymesophalangy ORPHA:508501
- Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome ORPHA:357332
- Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome ORPHA:369979
- Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ORPHA:420584
- Townes-Brocks syndrome ORPHA:857
- Meckel syndrome ORPHA:564
- Acrocallosal syndrome ORPHA:36
- Acropectorovertebral dysplasia ORPHA:957
- Scalp defects-postaxial polydactyly syndrome ORPHA:1003
- Aphalangy-syndactyly-microcephaly syndrome ORPHA:1113
- Catel-Manzke syndrome ORPHA:1388
- Craniosynostosis, Philadelphia type ORPHA:1527
- Dandy-Walker malformation-postaxial polydactyly syndrome ORPHA:1566
- Fibular dimelia-diplopodia syndrome ORPHA:1757
- Ectrodactyly-polydactyly syndrome ORPHA:1892
- Gollop-Wolfgang complex ORPHA:1986
- Greig cephalopolysyndactyly syndrome ORPHA:380
- Hallux varus-preaxial polysyndactyly syndrome ORPHA:2110
- Pallister-Hall syndrome ORPHA:672
- Lacrimoauriculodentodigital syndrome ORPHA:2363
- Laurin-Sandrow syndrome ORPHA:2378
- Fuhrmann syndrome ORPHA:2854
- Polydactyly-myopia syndrome ORPHA:2917
- Oliver syndrome ORPHA:2920
- Crossed polysyndactyly ORPHA:2935
- Triphalangeal thumbs-brachyectrodactyly syndrome ORPHA:2947
- Guttmacher syndrome ORPHA:2957
- Mirror polydactyly-vertebral segmentation-limbs defects syndrome ORPHA:3004
- Sillence syndrome ORPHA:3168
- Eyebrow duplication-syndactyly syndrome ORPHA:3172
- Symphalangism with multiple anomalies of hands and feet ORPHA:3246
- Filippi syndrome ORPHA:3255
- Cenani-Lenz syndrome ORPHA:3258
- Absent tibia-polydactyly-arachnoid cyst syndrome ORPHA:3328
- Syndactyly-polydactyly-ear lobe syndrome ORPHA:3259
- Smith-Lemli-Opitz syndrome ORPHA:818
- Split hand-split foot-deafness syndrome ORPHA:71271
- FATCO syndrome ORPHA:2492
- Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome ORPHA:476119
- Split-foot malformation-mesoaxial polydactyly syndrome ORPHA:488232
- Genetic syndrome with limb reduction defects ORPHA:404574
- Intellectual disability-spasticity-ectrodactyly syndrome ORPHA:1891
- Holt-Oram syndrome ORPHA:392
- Camptodactyly syndrome, Guadalajara type 2 ORPHA:1326
- FATCO syndrome ORPHA:2492
- Mammary-digital-nail syndrome ORPHA:238744
- Thrombocythemia with distal limb defects ORPHA:329319
- Cornelia de Lange syndrome ORPHA:199
- Thrombocytopenia-absent radius syndrome ORPHA:3320
- Fanconi anemia ORPHA:84
- Roberts syndrome ORPHA:3103
- Adams-Oliver syndrome ORPHA:974
- ADULT syndrome ORPHA:978
- Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome ORPHA:988
- Hypoglossia-hypodactyly syndrome ORPHA:989
- Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome ORPHA:1071
- Ankyloblepharon filiforme adnatum-cleft palate syndrome ORPHA:1072
- Ankyloblepharon filiforme adnatum-imperforate anus syndrome ORPHA:1074
- Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome ORPHA:1112
- Aphalangy-syndactyly-microcephaly syndrome ORPHA:1113
- Lethal faciocardiomelic dysplasia ORPHA:1972
- Gollop-Wolfgang complex ORPHA:1986
- Femoral-facial syndrome ORPHA:1988
- Splenogonadal fusion-limb defects-micrognathia syndrome ORPHA:2063
- Ulna hypoplasia-intellectual disability syndrome ORPHA:2249
- IVIC syndrome ORPHA:2307
- Absence deformity of leg-cataract syndrome ORPHA:2310
- Karsch-Neugebauer syndrome ORPHA:2329
- Tetramelic monodactyly ORPHA:2564
- Fibular aplasia-complex brachydactyly syndrome ORPHA:2639
- Postaxial tetramelic oligodactyly ORPHA:2730
- Pelvis-shoulder dysplasia ORPHA:2839
- Fuhrmann syndrome ORPHA:2854
- Phocomelia, Schinzel type ORPHA:2879
- Radio-renal syndrome ORPHA:3015
- Absent radius-anogenital anomalies syndrome ORPHA:3016
- RAPADILINO syndrome ORPHA:3021
- Ulnar-mammary syndrome ORPHA:3138
- Tetraamelia-multiple malformations syndrome ORPHA:3301
- Absent tibia-polydactyly-arachnoid cyst syndrome ORPHA:3328
- Tibial aplasia-ectrodactyly syndrome ORPHA:3329
- Humerus trochlea aplasia ORPHA:3383
- Split hand-split foot-deafness syndrome ORPHA:71271
- Okihiro syndrome ORPHA:93293
- Okihiro syndrome due to 20q13 microdeletion ORPHA:261638
- Okihiro syndrome due to a point mutation ORPHA:261647
- Pelviscapular dysplasia ORPHA:93333
- Heart defects-limb shortening syndrome ORPHA:1354
- Combined immunodeficiency with facio-oculo-skeletal anomalies ORPHA:221139
- Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome ORPHA:496693
- Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome ORPHA:508542
- Split-foot malformation-mesoaxial polydactyly syndrome ORPHA:488232
- Caudal regression-sirenomelia spectrum ORPHA:444941
- TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome ORPHA:592570
- Genetic renal or urinary tract malformation ORPHA:183539
- Syndromic renal or urinary tract malformation ORPHA:93547
- CHARGE syndrome ORPHA:138
- Rubinstein-Taybi syndrome ORPHA:783
- Rubinstein-Taybi syndrome due to CREBBP mutations ORPHA:353277
- Rubinstein-Taybi syndrome due to 16p13.3 microdeletion ORPHA:353281
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ORPHA:353284
- Noonan syndrome ORPHA:648
- WAGR syndrome ORPHA:893
- BOR syndrome ORPHA:107
- Cat-eye syndrome ORPHA:195
- Alagille syndrome ORPHA:52
- Alagille syndrome due to 20p12 microdeletion ORPHA:261600
- Alagille syndrome due to a JAG1 point mutation ORPHA:261619
- Alagille syndrome due to a NOTCH2 point mutation ORPHA:261629
- Beckwith-Wiedemann syndrome ORPHA:116
- Beckwith-Wiedemann syndrome due to 11p15 microduplication ORPHA:96076
- Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 ORPHA:96193
- Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 ORPHA:231117
- Beckwith-Wiedemann syndrome due to CDKN1C mutation ORPHA:231120
- Beckwith-Wiedemann syndrome due to 11p15 microdeletion ORPHA:231127
- Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion ORPHA:231130
- Beckwith-Wiedemann syndrome due to NSD1 mutation ORPHA:238613
- Meckel syndrome ORPHA:564
- Ellis Van Creveld syndrome ORPHA:289
- Simpson-Golabi-Behmel syndrome ORPHA:373
- Caudal regression syndrome ORPHA:3027
- Fraser syndrome ORPHA:2052
- Hajdu-Cheney syndrome ORPHA:955
- Acrorenal syndrome ORPHA:971
- Aniridia-renal agenesis-psychomotor retardation syndrome ORPHA:1064
- AREDYLD syndrome ORPHA:1133
- Axial mesodermal dysplasia spectrum ORPHA:1834
- EEC syndrome ORPHA:1896
- Faciocardiorenal syndrome ORPHA:1973
- Hydrocephalus-blue sclerae-nephropathy syndrome ORPHA:2186
- Hypoparathyroidism-sensorineural deafness-renal disease syndrome ORPHA:2237
- Megacystis-microcolon-intestinal hypoperistalsis syndrome ORPHA:2241
- Fibulo-ulnar hypoplasia-renal anomalies syndrome ORPHA:2256
- Pallister-Hall syndrome ORPHA:672
- Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome ORPHA:2278
- Nephrosis-deafness-urinary tract-digital malformations syndrome ORPHA:2669
- Renal coloboma syndrome ORPHA:1475
- Neurofaciodigitorenal syndrome ORPHA:2673
- Arthrogryposis-renal dysfunction-cholestasis syndrome ORPHA:2697
- Urofacial syndrome ORPHA:2704
- Orofaciodigital syndrome type 1 ORPHA:2750
- Multicentric carpo-tarsal osteolysis with or without nephropathy ORPHA:2774
- Spastic paraplegia-nephritis-deafness syndrome ORPHA:2820
- NPHP3-related Meckel-like syndrome ORPHA:3032
- Mayer-Rokitansky-Küster-Hauser syndrome ORPHA:3109
- Mayer-Rokitansky-Küster-Hauser syndrome type 2 ORPHA:2578
- Mayer-Rokitansky-Küster-Hauser syndrome type 1 ORPHA:247775
- Schinzel-Giedion syndrome ORPHA:798
- Holoprosencephaly-radial heart renal anomalies syndrome ORPHA:3186
- Thomas syndrome ORPHA:3316
- Thymic-renal-anal-lung dysplasia ORPHA:3326
- Thyrocerebrorenal syndrome ORPHA:3327
- Ulbright-Hodes syndrome ORPHA:3404
- Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome ORPHA:1192
- Smith-Lemli-Opitz syndrome ORPHA:818
- 22q11.2 deletion syndrome ORPHA:567
- HNF1B-related autosomal dominant tubulointerstitial kidney disease ORPHA:93111
- BNAR syndrome ORPHA:217266
- Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome ORPHA:444069
- Trisomy 13 syndrome ORPHA:3378
- Trisomy 18 syndrome ORPHA:3380
- VACTERL/VATER association ORPHA:887
- Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome ORPHA:439897
- Turner syndrome ORPHA:881
- Monosomy X syndrome ORPHA:99226
- Mosaic monosomy X syndrome ORPHA:99228
- Turner syndrome due to structural X chromosome anomalies ORPHA:99413
- Radio-renal syndrome ORPHA:3015
- Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome ORPHA:500135
- Caudal duplication ORPHA:1756
- Tall stature-intellectual disability-renal anomalies syndrome ORPHA:500095
- Congenital vertebral-cardiac-renal anomalies syndrome ORPHA:521438
- 8q24.3 microdeletion syndrome ORPHA:508488
- Menke-Hennekam syndrome ORPHA:592574
- SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome ORPHA:597743
- PBX1-related congenital anomalies of kidney-urinary tract syndrome ORPHA:656130
- Structural heart defects-renal anomalies syndrome ORPHA:689822
- Genetic non-syndromic renal or urinary tract malformation ORPHA:357506
- Multicystic dysplastic kidney ORPHA:1851
- Unilateral multicystic dysplastic kidney ORPHA:97363
- Bilateral multicystic dysplastic kidney ORPHA:97364
- Exstrophy-epispadias complex ORPHA:322
- Medullary sponge kidney ORPHA:1309
- Duplication of urethra ORPHA:237
- Congenital primary megaureter ORPHA:617
- Primary megaureter, adult-onset form ORPHA:238642
- Congenital primary megaureter, obstructed form ORPHA:238646
- Congenital primary megaureter, refluxing form ORPHA:238650
- Congenital primary megaureter, nonrefluxing and unobstructed form ORPHA:238654
- Congenital primary megaureter, refluxing and obstructed form ORPHA:544578
- Renal hypoplasia ORPHA:93101
- Renal dysplasia ORPHA:93108
- Renal tubular dysgenesis of genetic origin ORPHA:97369
- Renal agenesis ORPHA:411709
- Fetal lower urinary tract obstruction ORPHA:435365
- Genetic cranial malformation ORPHA:183542
- Adams-Oliver syndrome ORPHA:974
- Hypomandibular faciocranial dysostosis ORPHA:1790
- Delayed membranous cranial ossification ORPHA:3034
- Enlarged parietal foramina ORPHA:60015
- Morgagni-Stewart-Morel syndrome ORPHA:77296
- Aplasia cutis congenita ORPHA:1114
- Cleidocranial dysplasia ORPHA:1452
- Craniosynostosis ORPHA:1531
- Non-syndromic craniosynostosis ORPHA:139390
- Non-syndromic unisutural craniosynostosis ORPHA:620096
- Non-syndromic unicoronal craniosynostosis ORPHA:620102
- Non-syndromic unilambdoid craniosynostosis ORPHA:620113
- Non-syndromic unifrontosphenoidal craniosynostosis ORPHA:620139
- Non-syndromic unisquamosal craniosynostosis ORPHA:620146
- Non-syndromic metopic craniosynostosis ORPHA:3366
- Non-syndromic sagittal craniosynostosis ORPHA:35093
- Non-syndromic multisutural craniosynostosis ORPHA:620152
- Non-syndromic non-specific multisutural craniosynostosis ORPHA:620158
- Non-syndromic bilambdoid craniosynostosis ORPHA:620178
- Non-syndromic unicoronal and sagittal craniosynostosis ORPHA:620186
- Non-syndromic metopic and sagittal craniosynostosis ORPHA:620192
- Non-syndromic bicoronal and metopic craniosynostosis ORPHA:620198
- Non-syndromic bicoronal and sagittal craniosynostosis ORPHA:620205
- Non-syndromic pansynostosis ORPHA:620212
- Non-syndromic bicoronal craniosynostosis ORPHA:35099
- Non-syndromic bilambdoid and sagittal craniosynostosis ORPHA:1516
- Syndromic craniosynostosis ORPHA:139393
- Crouzon syndrome ORPHA:207
- C syndrome ORPHA:1308
- Apert syndrome ORPHA:87
- Antley-Bixler syndrome ORPHA:83
- Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis ORPHA:63269
- Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis ORPHA:596008
- Baller-Gerold syndrome ORPHA:1225
- Cranioectodermal dysplasia ORPHA:1515
- Craniosynostosis, Philadelphia type ORPHA:1527
- Craniotelencephalic dysplasia ORPHA:1528
- Jackson-Weiss syndrome ORPHA:1540
- Curry-Jones syndrome ORPHA:1553
- Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome ORPHA:1555
- Craniosynostosis, Herrmann-Opitz type ORPHA:2145
- Holoprosencephaly-craniosynostosis syndrome ORPHA:2163
- Lowry-MacLean syndrome ORPHA:2409
- Shprintzen-Goldberg syndrome ORPHA:2462
- Cardiocranial syndrome, Pfeiffer type ORPHA:2872
- SCARF syndrome ORPHA:3134
- FGFR2-related bent bone dysplasia ORPHA:313855
- Trigonocephaly-broad thumbs syndrome ORPHA:3365
- Trigonocephaly-short stature-developmental delay syndrome ORPHA:3369
- X-linked intellectual disability-plagiocephaly syndrome ORPHA:2898
- Craniosynostosis, Boston type ORPHA:1541
- Craniomicromelic syndrome ORPHA:1524
- Craniosynostosis-intracranial calcifications syndrome ORPHA:52054
- Muenke syndrome ORPHA:53271
- Infantile hypophosphatasia ORPHA:247651
- Craniosynostosis-anal anomalies-porokeratosis syndrome ORPHA:85199
- Crouzon syndrome-acanthosis nigricans syndrome ORPHA:93262
- Cloverleaf skull-multiple congenital anomalies syndrome ORPHA:93267
- Prenatal benign hypophosphatasia ORPHA:247638
- Cloverleaf skull-asphyxiating thoracic dysplasia syndrome ORPHA:100978
- Familial scaphocephaly syndrome ORPHA:169163
- Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome ORPHA:1538
- Familial scaphocephaly syndrome, McGillivray type ORPHA:168624
- Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome ORPHA:171839
- Osteosclerosis-developmental delay-craniosynostosis syndrome ORPHA:178377
- Acrocephalopolydactyly ORPHA:221054
- Craniosynostosis-dental anomalies ORPHA:284149
- Lethal occipital encephalocele-skeletal dysplasia syndrome ORPHA:293925
- Childhood-onset hypophosphatasia ORPHA:247667
- Noonan syndrome ORPHA:648
- Mucopolysaccharidosis ORPHA:79213
- Hyaluronidase deficiency ORPHA:67041
- Mucopolysaccharidosis type 6 ORPHA:583
- Mucopolysaccharidosis type 6, rapidly progressing ORPHA:276212
- Mucopolysaccharidosis type 6, slowly progressing ORPHA:276223
- Mucopolysaccharidosis type 7 ORPHA:584
- Mucopolysaccharidosis type 2 ORPHA:580
- Mucopolysaccharidosis type 2, severe form ORPHA:217085
- Mucopolysaccharidosis type 2, attenuated form ORPHA:217093
- Mucopolysaccharidosis type 1 ORPHA:579
- Mucopolysaccharidosis type 3 ORPHA:581
- Sanfilippo syndrome type A ORPHA:79269
- Sanfilippo syndrome type B ORPHA:79270
- Sanfilippo syndrome type C ORPHA:79271
- Sanfilippo syndrome type D ORPHA:79272
- Mucopolysaccharidosis type 4 ORPHA:582
- Mucopolysaccharidosis type 10 ORPHA:662216
- Osteoglosphonic dysplasia ORPHA:2645
- Williams syndrome ORPHA:904
- Radioulnar synostosis-developmental delay-hypotonia syndrome ORPHA:3270
- Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome ORPHA:369837
- Craniofrontonasal dysplasia ORPHA:1520
- 3MC syndrome ORPHA:293843
- Thanatophoric dysplasia ORPHA:2655
- Pycnodysostosis ORPHA:763
- Coffin-Siris syndrome ORPHA:1465
- Acrocallosal syndrome ORPHA:36
- Dubowitz syndrome ORPHA:235
- Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome ORPHA:647681
- Craniosynostosis-microretrognathia-severe intellectual disability syndrome ORPHA:565858
- Craniosynostosis-facial dysmorphism-brachydactyly syndrome ORPHA:672979
- Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome ORPHA:672985
- KBG syndrome ORPHA:2332
- Koolen-De Vries syndrome ORPHA:96169
- 17q21.31 microdeletion syndrome ORPHA:363958
- Koolen-De Vries syndrome due to a point mutation ORPHA:363965
- Bohring-Opitz syndrome ORPHA:97297
- Fetal valproate spectrum disorder ORPHA:1906
- Pfeiffer syndrome ORPHA:710
- Pfeiffer syndrome type 1 ORPHA:93258
- Pfeiffer syndrome type 2 ORPHA:93259
- Pfeiffer syndrome type 3 ORPHA:93260
- Saethre-Chotzen syndrome ORPHA:794
- Carpenter syndrome ORPHA:65759
- Craniodiaphyseal dysplasia ORPHA:1513
- Frontometaphyseal dysplasia ORPHA:1826
- Osteopathia striata-cranial sclerosis syndrome ORPHA:2780
- Osteocraniostenosis ORPHA:2763
- Craniometaphyseal dysplasia ORPHA:1522
- Cole-Carpenter syndrome ORPHA:2050
- Genetic digestive tract malformation ORPHA:183545
- Esophageal malformation ORPHA:88993
- Non-syndromic esophageal malformation ORPHA:108959
- Esophageal atresia ORPHA:1199
- Duplication of the esophagus ORPHA:91357
- Isolated esophageal duplication cyst ORPHA:100047
- Isolated tubular duplication of the esophagus ORPHA:100048
- Congenital esophageal diverticulum ORPHA:91358
- Congenital esophageal stenosis ORPHA:645749
- Laryngotracheoesophageal cleft ORPHA:2004
- Laryngotracheoesophageal cleft type 0 ORPHA:280205
- Laryngotracheoesophageal cleft type 1 ORPHA:93938
- Laryngotracheoesophageal cleft type 4 ORPHA:93941
- Laryngotracheoesophageal cleft type 2 ORPHA:93939
- Laryngotracheoesophageal cleft type 3 ORPHA:93940
- Isolated tracheoesophageal fistula ORPHA:454750
- Genetic syndromic esophageal malformation ORPHA:371445
- Gastroduodenal malformation ORPHA:97944
- Non-syndromic gastroduodenal malformation ORPHA:108963
- Isolated gastric duplication ORPHA:662376
- Isolated pyloric duplication ORPHA:662405
- Duodenal atresia ORPHA:1203
- Syndromic gastroduodenal malformation ORPHA:108965
- Intestinal malformation ORPHA:97945
- Non-syndromic intestinal malformation ORPHA:108967
- Isolated multiple intestinal atresia ORPHA:2300
- Small bowel atresia ORPHA:1201
- Colonic atresia ORPHA:1198
- Congenital short bowel syndrome ORPHA:2301
- Isolated small intestine duplication ORPHA:662456
- Familial intestinal malrotation ORPHA:508410
- Isolated colonic duplication ORPHA:662392
- Duodenal atresia ORPHA:1203
- Syndromic intestinal malformation ORPHA:108969
- Rare disorder with Hirschsprung disease as a major feature ORPHA:557866
- Bardet-Biedl syndrome ORPHA:110
- Goldberg-Shprintzen megacolon syndrome ORPHA:66629
- Haddad syndrome ORPHA:99803
- Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease ORPHA:163746
- Waardenburg-Shah syndrome ORPHA:897
- Hirschsprung disease-type D brachydactyly syndrome ORPHA:2150
- Mowat-Wilson syndrome ORPHA:2152
- Mowat-Wilson syndrome due to monosomy 2q22 ORPHA:261537
- Mowat-Wilson syndrome due to a ZEB2 point mutation ORPHA:261552
- Hirschsprung disease-nail hypoplasia-dysmorphism syndrome ORPHA:2153
- Hirschsprung disease-deafness-polydactyly syndrome ORPHA:2155
- Marfanoid syndrome, De Silva type ORPHA:2464
- Thoraco-abdominal enteric duplication ORPHA:1759
- Umbilical cord ulceration-intestinal atresia syndrome ORPHA:3405
- Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome ORPHA:293864
- Combined immunodeficiency-multiple intestinal atresia ORPHA:436252
- Diaphragmatic hernia-short bowel-asplenia syndrome ORPHA:527468
- Stromme syndrome ORPHA:506307
- Malformation of the anal canal and the rectum ORPHA:684757
- Anorectal malformation ORPHA:96346
- Non-syndromic anorectal malformation ORPHA:557
- Non-syndromic anorectal malformation with perineal fistula ORPHA:600952
- Non-syndromic anorectal malformation with rectourethral fistula ORPHA:600961
- Non-syndromic anorectal malformation with rectourethral fistula, bulbar type ORPHA:600966
- Non-syndromic anorectal malformation with rectourethral fistula, prostatic type ORPHA:600975
- Non-syndromic anorectal malformation with rectovesical fistula ORPHA:600984
- Non-syndromic anorectal malformation with vestibular fistula ORPHA:600993
- Non-syndromic cloacal malformation ORPHA:600998
- Non-syndromic anorectal malformation without fistula ORPHA:601002
- Non-syndromic anorectal malformation with anal stenosis ORPHA:601008
- Non-syndromic anorectal malformation with pouch colon ORPHA:601013
- Non-syndromic anorectal malformation with rectal atresia ORPHA:601018
- Non-syndromic anorectal malformation with rectal stenosis ORPHA:601023
- Non-syndromic anorectal malformation with rectovaginal fistula ORPHA:601028
- Non-syndromic anorectal malformation with H-type fistula ORPHA:601033
- Syndromic anorectal malformation ORPHA:117573
- 22q11.2 deletion syndrome ORPHA:567
- Townes-Brocks syndrome ORPHA:857
- Cat-eye syndrome ORPHA:195
- Trisomy 13 syndrome ORPHA:3378
- Trisomy 18 syndrome ORPHA:3380
- Pallister-Killian syndrome ORPHA:884
- VACTERL/VATER association ORPHA:887
- Fraser syndrome ORPHA:2052
- Currarino syndrome ORPHA:1552
- Distal deletion 13q syndrome ORPHA:1590
- Baller-Gerold syndrome ORPHA:1225
- Cataract-intellectual disability-anal atresia-urinary defects syndrome ORPHA:1381
- X-linked skeletal dysplasia-intellectual disability syndrome ORPHA:1436
- Caudal duplication ORPHA:1756
- Axial mesodermal dysplasia spectrum ORPHA:1834
- Pallister-Hall syndrome ORPHA:672
- Johanson-Blizzard syndrome ORPHA:2315
- Kabuki syndrome ORPHA:2322
- Lowe-Kohn-Cohen syndrome ORPHA:2408
- Microphthalmia with linear skin defects syndrome ORPHA:2556
- Mayer-Rokitansky-Küster-Hauser syndrome type 2 ORPHA:2578
- 46,XX difference of sex development-anorectal anomalies syndrome ORPHA:2973
- Ulnar-mammary syndrome ORPHA:3138
- VACTERL with hydrocephalus ORPHA:3412
- Opitz GBBB syndrome ORPHA:2745
- Axenfeld-Rieger syndrome ORPHA:782
- 6q terminal deletion syndrome ORPHA:75857
- LUMBAR syndrome ORPHA:83628
- Short rib-polydactyly syndrome, Verma-Naumoff type ORPHA:93271
- Okihiro syndrome ORPHA:93293
- Okihiro syndrome due to 20q13 microdeletion ORPHA:261638
- Okihiro syndrome due to a point mutation ORPHA:261647
- Cloacal exstrophy ORPHA:93929
- Ring chromosome 13 syndrome ORPHA:96176
- Maternal uniparental disomy of chromosome 16 syndrome ORPHA:96185
- Syndactyly-telecanthus-anogenital and renal malformations syndrome ORPHA:140952
- BNAR syndrome ORPHA:217266
- Caudal regression-sirenomelia spectrum ORPHA:444941
- EVEN-plus syndrome ORPHA:496751
- FG syndrome type 1 ORPHA:93932
- Down syndrome ORPHA:870
- Isolated Klippel-Feil syndrome ORPHA:2345
- Oculogastrointestinal-neurodevelopmental syndrome ORPHA:611201
- Feingold syndrome ORPHA:1305
- Short rib-polydactyly syndrome, Saldino-Noonan type ORPHA:93270
- Isolated anal canal duplication ORPHA:684752
- Isolated rectal duplication ORPHA:171220
- Genetic visceral malformation of the liver, biliary tract, pancreas or spleen ORPHA:183548
- Non-syndromic visceral malformation ORPHA:108971
- Caroli disease ORPHA:53035
- Partial pancreatic agenesis ORPHA:2805
- Annular pancreas ORPHA:675
- Accessory pancreas ORPHA:674
- Familial isolated congenital asplenia ORPHA:101351
- Situs ambiguus ORPHA:157769
- Situs inversus totalis ORPHA:101063
- Isolated gallbladder duplication ORPHA:662388
- Syndromic visceral malformation ORPHA:108973
- Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome ORPHA:293864
- Renal-hepatic-pancreatic dysplasia ORPHA:294415
- Alagille syndrome ORPHA:52
- Alagille syndrome due to 20p12 microdeletion ORPHA:261600
- Alagille syndrome due to a JAG1 point mutation ORPHA:261619
- Alagille syndrome due to a NOTCH2 point mutation ORPHA:261629
- Meckel syndrome ORPHA:564
- Splenogonadal fusion-limb defects-micrognathia syndrome ORPHA:2063
- Right sided atrial isomerism ORPHA:97548
- Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome ORPHA:689829
- Diaphragmatic hernia-short bowel-asplenia syndrome ORPHA:527468
- Pancreatic agenesis-holoprosencephaly syndrome ORPHA:556955
- Genetic respiratory or mediastinal malformation ORPHA:183554
- Non-syndromic respiratory or mediastinal malformation ORPHA:108993
- Congenital lobar emphysema ORPHA:1928
- Fetal akinesia deformation sequence ORPHA:994
- Lung agenesis-heart defect-thumb anomalies syndrome ORPHA:1120
- Feingold syndrome ORPHA:1305
- Lethal congenital contracture syndrome type 1 ORPHA:1486
- Primary pulmonary hypoplasia ORPHA:2257
- Laryngo-onycho-cutaneous syndrome ORPHA:2407
- Matthew-Wood syndrome ORPHA:2470
- Congenital tracheomalacia ORPHA:95430
- Genetic developmental defect of the eye ORPHA:183557
- Anterior segment developmental anomaly ORPHA:88632
- Rare eyebrow/eyelash disorder ORPHA:98594
- Anterior segment developmental anomaly of genetic origin ORPHA:522540
- Anterior segment developmental abnormality with extraocular manifestations ORPHA:519276
- Distal deletion 6p syndrome ORPHA:96125
- Syndromic aniridia ORPHA:98557
- WAGR syndrome ORPHA:893
- Aniridia-cerebellar ataxia-intellectual disability syndrome ORPHA:1065
- Aniridia-renal agenesis-psychomotor retardation syndrome ORPHA:1064
- Aniridia-absent patella syndrome ORPHA:1069
- Aniridia-ptosis-intellectual disability-familial obesity syndrome ORPHA:1067
- Aniridia-intellectual disability syndrome ORPHA:1068
- Uveal coloboma-cleft lip and palate-intellectual disability ORPHA:1473
- GMS syndrome ORPHA:2090
- Pierson syndrome ORPHA:2670
- SHORT syndrome ORPHA:3163
- Axenfeld-Rieger syndrome ORPHA:782
- Cat-eye syndrome ORPHA:195
- Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome ORPHA:139450
- Alagille syndrome ORPHA:52
- Alagille syndrome due to 20p12 microdeletion ORPHA:261600
- Alagille syndrome due to a JAG1 point mutation ORPHA:261619
- Alagille syndrome due to a NOTCH2 point mutation ORPHA:261629
- Peters plus syndrome ORPHA:709
- Stromme syndrome ORPHA:506307
- Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome ORPHA:52055
- Jung syndrome ORPHA:2321
- Anterior segment developmental anomaly without extraocular manifestations ORPHA:98634
- Bilateral acute depigmentation of the iris ORPHA:69736
- Axenfeld anomaly ORPHA:98978
- Congenital microcoria ORPHA:566
- Rieger anomaly ORPHA:91483
- Peters anomaly ORPHA:708
- Isolated aniridia ORPHA:250923
- Autosomal recessive anterior segment dysgenesis ORPHA:519388
- Congenital ectropion uveae ORPHA:91491
- Coloboma of iris ORPHA:98944
- Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome ORPHA:488197
- Lens size anomaly of genetic origin ORPHA:522550
- Syndromic microspherophakia ORPHA:519294
- Microspherophakia-metaphyseal dysplasia syndrome ORPHA:2551
- Autosomal dominant vitreoretinochoroidopathy ORPHA:3086
- Weill-Marchesani syndrome ORPHA:3449
- Spondylo-ocular syndrome ORPHA:85194
- Ichthyosis-short stature-brachydactyly-microspherophakia syndrome ORPHA:363992
- Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome ORPHA:2084
- Primary early-onset glaucoma ORPHA:156005
- Syndromic optic nerve hypoplasia ORPHA:137905
- Septo-optic dysplasia spectrum ORPHA:3157
- Polymicrogyria with optic nerve hypoplasia ORPHA:250972
- Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome ORPHA:603494
- Congenital optic disc excavation of genetic origin ORPHA:522514
- Morning glory disc anomaly ORPHA:35737
- Coloboma of optic disc ORPHA:98947
- Familial cavitary optic disc anomaly ORPHA:464760
- Rare disorder with optic disc malformation ORPHA:519345
- Renal coloboma syndrome ORPHA:1475
- Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome ORPHA:435930
- Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome ORPHA:52055
- SRD5A3-CDG ORPHA:324737
- Rare genetic palpebral disorder ORPHA:522526
- Congenital malformation of the eyelid ORPHA:98561
- Cryptophthalmia ORPHA:98562
- Microblepharon-ablephara syndrome ORPHA:98563
- Neu-Laxova syndrome ORPHA:2671
- Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency ORPHA:583602
- Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency ORPHA:583607
- Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency ORPHA:583612
- Ablepharon macrostomia syndrome ORPHA:920
- Eyelid border anomaly ORPHA:98564
- Isolated ankyloblepharon filiforme adnatum ORPHA:91397
- Syndromic ankyloblepharon filiforme adnatum ORPHA:98565
- Popliteal pterygium syndrome ORPHA:294963
- Microphthalmia-ankyloblepharon-intellectual disability syndrome ORPHA:85275
- Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome ORPHA:1071
- Ankyloblepharon filiforme adnatum-cleft palate syndrome ORPHA:1072
- Ankyloblepharon filiforme adnatum-imperforate anus syndrome ORPHA:1074
- Frontofacionasal dysplasia ORPHA:1791
- Syndromic eyelid coloboma ORPHA:98566
- Bartsocas-Papas syndrome ORPHA:1234
- Oculotrichoanal syndrome ORPHA:2717
- Treacher-Collins syndrome ORPHA:861
- Nager syndrome ORPHA:245
- Postaxial acrofacial dysostosis ORPHA:246
- Frontofacionasal dysplasia ORPHA:1791
- Nasopalpebral lipoma-coloboma syndrome ORPHA:2399
- Coloboma of eyelid ORPHA:98946
- Congenital eyelid retraction ORPHA:99176
- Rare genetic eyelid malposition disorder ORPHA:522528
- Ascher syndrome ORPHA:1253
- Syndromic epicanthus ORPHA:98574
- Turner syndrome ORPHA:881
- Monosomy X syndrome ORPHA:99226
- Mosaic monosomy X syndrome ORPHA:99228
- Turner syndrome due to structural X chromosome anomalies ORPHA:99413
- Down syndrome ORPHA:870
- Williams syndrome ORPHA:904
- Monosomy 5p syndrome ORPHA:281
- Monosomy 13q14 syndrome ORPHA:1587
- Distal duplication 14q syndrome ORPHA:1705
- Marinesco-Sjögren syndrome ORPHA:559
- Smith-Lemli-Opitz syndrome ORPHA:818
- Congenital cataracts-facial dysmorphism-neuropathy syndrome ORPHA:48431
- Syndromic telecanthus ORPHA:98575
- Waardenburg syndrome type 1 ORPHA:894
- Waardenburg syndrome type 3 ORPHA:896
- Oculocerebrofacial syndrome, Kaufman type ORPHA:2707
- Blepharophimosis-ptosis-epicanthus inversus syndrome ORPHA:126
- Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 ORPHA:572354
- Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 ORPHA:572361
- Opitz GBBB syndrome ORPHA:2745
- Blepharophimosis-ptosis-epicanthus inversus syndrome plus ORPHA:572333
- Syndromic outer canthal malposition ORPHA:98576
- Down syndrome ORPHA:870
- Noonan syndrome-like disorder with loose anagen hair ORPHA:2701
- Noonan syndrome ORPHA:648
- Treacher-Collins syndrome ORPHA:861
- Nager syndrome ORPHA:245
- Rare disorder with ptosis ORPHA:98578
- Jacobsen syndrome ORPHA:2308
- Camptodactyly-joint contractures-facial skeletal defects syndrome ORPHA:1323
- Steinert myotonic dystrophy ORPHA:273
- Childhood-onset Steinert myotonic dystrophy ORPHA:589824
- Juvenile-onset Steinert myotonic dystrophy ORPHA:589827
- Adult-onset Steinert myotonic dystrophy ORPHA:589830
- Late-onset Steinert myotonic dystrophy ORPHA:589833
- Congenital-onset Steinert myotonic dystrophy ORPHA:589821
- Mucopolysaccharidosis type 2 ORPHA:580
- Mucopolysaccharidosis type 2, severe form ORPHA:217085
- Mucopolysaccharidosis type 2, attenuated form ORPHA:217093
- Noonan syndrome ORPHA:648
- Saethre-Chotzen syndrome ORPHA:794
- Blepharophimosis-ptosis-epicanthus inversus syndrome ORPHA:126
- Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 ORPHA:572354
- Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 ORPHA:572361
- Treacher-Collins syndrome ORPHA:861
- Cornelia de Lange syndrome ORPHA:199
- X-linked centronuclear myopathy ORPHA:596
- Dubowitz syndrome ORPHA:235
- Proximal myotonic myopathy ORPHA:606
- Oculopharyngeal muscular dystrophy ORPHA:270
- Oculogastrointestinal muscular dystrophy ORPHA:1876
- Borjeson-Forssman-Lehmann syndrome ORPHA:127
- Atrioventricular defect-blepharophimosis-radial and anal defect syndrome ORPHA:1352
- Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome ORPHA:2057
- Acrootoocular syndrome ORPHA:2980
- Ptosis-vocal cord paralysis syndrome ORPHA:2997
- Ptosis-strabismus-ectopic pupils syndrome ORPHA:2999
- Baraitser-Winter cerebrofrontofacial syndrome ORPHA:2995
- Mitochondrial DNA-related progressive external ophthalmoplegia ORPHA:663
- Smith-Lemli-Opitz syndrome ORPHA:818
- Mitochondrial neurogastrointestinal encephalomyopathy ORPHA:298
- Congenital myasthenic syndrome ORPHA:590
- Postsynaptic congenital myasthenic syndromes ORPHA:98913
- Presynaptic congenital myasthenic syndromes ORPHA:98914
- Synaptic congenital myasthenic syndromes ORPHA:98915
- Congenital myasthenic syndromes with glycosylation defect ORPHA:353327
- Dopamine beta-hydroxylase deficiency ORPHA:230
- Congenital fibrosis of extraocular muscles ORPHA:45358
- Char syndrome ORPHA:46627
- Goldberg-Shprintzen megacolon syndrome ORPHA:66629
- Congenital ptosis ORPHA:91411
- Marcus-Gunn syndrome ORPHA:91412
- Congenital Horner syndrome ORPHA:91413
- Oculopharyngodistal myopathy ORPHA:98897
- Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome ORPHA:228396
- Blepharophimosis-intellectual disability syndrome ORPHA:293642
- Distal deletion 3p syndrome ORPHA:1620
- Blepharophimosis-intellectual disability syndrome, Ohdo type ORPHA:2728
- Blepharophimosis-intellectual disability syndrome, SBBYS type ORPHA:3047
- Blepharophimosis-intellectual disability syndrome, MKB type ORPHA:293707
- Blepharophimosis-intellectual disability syndrome, Verloes type ORPHA:293725
- SMARCA2-related blepharophimosis-intellectual disability syndrome ORPHA:637013
- Weiss-Kruszka Syndrome ORPHA:502430
- Blepharophimosis-ptosis-epicanthus inversus syndrome plus ORPHA:572333
- Epiblepharon ORPHA:99169
- Euryblepharon ORPHA:99172
- Rare disorder with ectropion ORPHA:519268
- Secondary ectropion ORPHA:98571
- Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome ORPHA:2269
- Xeroderma pigmentosum ORPHA:910
- Xeroderma pigmentosum variant ORPHA:90342
- Xeroderma pigmentosum-Cockayne syndrome complex ORPHA:220295
- Autosomal recessive congenital ichthyosis ORPHA:281097
- Lamellar ichthyosis ORPHA:313
- Harlequin ichthyosis ORPHA:457
- Congenital ichthyosiform erythroderma ORPHA:79394
- Bathing suit ichthyosis ORPHA:100976
- Self-improving collodion baby ORPHA:281122
- Acral self-healing collodion baby ORPHA:281127
- Exfoliative ichthyosis ORPHA:289586
- Down syndrome ORPHA:870
- Postaxial acrofacial dysostosis ORPHA:246
- Barber-Say syndrome ORPHA:1231
- Congenital ectropion ORPHA:98570
- Rare genetic disorder with entropion ORPHA:522530
- Lens position anomaly of genetic origin ORPHA:522552
- Isolated ectopia lentis ORPHA:1885
- Syndromic genetic ectopia lentis ORPHA:522554
- Marfan syndrome ORPHA:558
- Homocystinuria due to cystathionine beta-synthase deficiency ORPHA:394
- Encephalopathy due to sulfite oxidase deficiency ORPHA:833
- Isolated sulfite oxidase deficiency ORPHA:99731
- Sulfite oxidase deficiency due to molybdenum cofactor deficiency ORPHA:99732
- Marshall syndrome ORPHA:560
- Aniridia-intellectual disability syndrome ORPHA:1068
- Blepharoptosis-myopia-ectopia lentis syndrome ORPHA:1259
- Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome ORPHA:2084
- Focal dermal hypoplasia ORPHA:2092
- Epidermolysis bullosa simplex with anodontia/hypodontia ORPHA:2325
- Microspherophakia-metaphyseal dysplasia syndrome ORPHA:2551
- Weill-Marchesani syndrome ORPHA:3449
- Blindness-scoliosis-arachnodactyly syndrome ORPHA:171844
- Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome ORPHA:412022
- Genetic congenital malformation of the eye with glaucoma as a major feature ORPHA:525677
- X-linked retinoschisis ORPHA:792
- Coats disease ORPHA:190
- Nanophthalmos ORPHA:35612
- Iridocorneal endothelial syndrome ORPHA:64734
- Anterior segment developmental anomaly without extraocular manifestations ORPHA:98634
- Bilateral acute depigmentation of the iris ORPHA:69736
- Axenfeld anomaly ORPHA:98978
- Congenital microcoria ORPHA:566
- Rieger anomaly ORPHA:91483
- Peters anomaly ORPHA:708
- Isolated aniridia ORPHA:250923
- Autosomal recessive anterior segment dysgenesis ORPHA:519388
- Congenital ectropion uveae ORPHA:91491
- Coloboma of iris ORPHA:98944
- Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome ORPHA:488197
- Posterior polymorphous corneal dystrophy ORPHA:98973
- Glaucoma secondary to spherophakia/ectopia lentis and megalocornea ORPHA:238763
- Isolated optic nerve aplasia ORPHA:637064
- Congenital primary aphakia ORPHA:83461
- Lens shape anomaly ORPHA:98655
- CHARGE syndrome ORPHA:138
- Rubinstein-Taybi syndrome ORPHA:783
- Rubinstein-Taybi syndrome due to CREBBP mutations ORPHA:353277
- Rubinstein-Taybi syndrome due to 16p13.3 microdeletion ORPHA:353281
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ORPHA:353284
- Meckel syndrome ORPHA:564
- Microphthalmia, Lenz type ORPHA:568
- Alport syndrome ORPHA:63
- X-linked Alport syndrome ORPHA:88917
- Autosomal dominant Alport syndrome ORPHA:88918
- Autosomal recessive Alport syndrome ORPHA:88919
- X-linked Alport syndrome-diffuse leiomyomatosis ORPHA:1018
- Digenic Alport syndrome ORPHA:653722
- Focal dermal hypoplasia ORPHA:2092
- Coloboma of macula ORPHA:98945
- Structural developmental eye defect of genetic origin ORPHA:522536
- Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome ORPHA:659904
- Melnick-Needles syndrome ORPHA:2484
- Microphthalmia-anophthalmia-coloboma ORPHA:98555
- Isolated microphthalmia-anophthalmia-coloboma ORPHA:2542
- Syndromic microphthalmia-anophthalmia-coloboma ORPHA:202948
- COFS syndrome ORPHA:1466
- Ectodermal dysplasia-blindness syndrome ORPHA:1806
- Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome ORPHA:251279
- Microphthalmia with limb anomalies ORPHA:1106
- Microphthalmia-microtia-fetal akinesia syndrome ORPHA:2547
- Microphthalmia, Lenz type ORPHA:568
- Matthew-Wood syndrome ORPHA:2470
- Micro syndrome ORPHA:2510
- Microphthalmia with linear skin defects syndrome ORPHA:2556
- Oculofaciocardiodental syndrome ORPHA:2712
- MMEP syndrome ORPHA:3434
- Anophthalmia/microphthalmia-esophageal atresia syndrome ORPHA:77298
- Microphthalmia-brain atrophy syndrome ORPHA:77299
- Microphthalmia-ankyloblepharon-intellectual disability syndrome ORPHA:85275
- Microphthalmia with brain and digit anomalies ORPHA:139471
- Syndromic microphthalmia type 5 ORPHA:178364
- Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome ORPHA:363741
- Colobomatous microphthalmia-rhizomelic dysplasia syndrome ORPHA:424099
- X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome ORPHA:431140
- Oculocerebrocutaneous syndrome ORPHA:1647
- Oculoauricular syndrome, Schorderet type ORPHA:157962
- Oculogastrointestinal-neurodevelopmental syndrome ORPHA:611201
- Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome ORPHA:689829
- Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome ORPHA:603494
- Macrosomia-microphthalmia-cleft palate syndrome ORPHA:2432
- High myopia-sensorineural deafness syndrome ORPHA:363396
- Colobomatous macrophthalmia-microcornea syndrome ORPHA:468672
- Macular coloboma-cleft palate-hallux valgus syndrome ORPHA:91494
- Coloboma of eye lens ORPHA:98943
- Corneodysgenesis ORPHA:98635
- Lacrimal drainage system anomaly of genetic origin ORPHA:522534
- Familial congenital nasolacrimal duct obstruction ORPHA:451612
- Syndromic lacrimal system disorder ORPHA:519274
- Coloboma of macula-brachydactyly type B syndrome ORPHA:1471
- Early onset non-syndromic cataract ORPHA:91492
- Early-onset partial cataract ORPHA:98992
- Pulverulent cataract ORPHA:98984
- Early-onset anterior polar cataract ORPHA:98988
- Cerulean cataract ORPHA:98989
- Coralliform cataract ORPHA:98990
- Early-onset posterior polar cataract ORPHA:98993
- Early-onset zonular cataract ORPHA:98995
- Early-onset sutural cataract ORPHA:98985
- Early-onset nuclear cataract ORPHA:98991
- Early-onset lamellar cataract ORPHA:441452
- Early-onset posterior subcapsular cataract ORPHA:441447
- Total early-onset cataract ORPHA:98994
- Congenital cornea plana ORPHA:53691
- Coloboma of choroid and retina ORPHA:98942
- Isolated optic nerve hypoplasia ORPHA:637061
- Genetic malformation syndrome with short stature ORPHA:183570
- Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome ORPHA:459061
- Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome ORPHA:659702
- MGP-related spondyloepiphyseal dysplasia ORPHA:664377
- Rauch-Steindl syndrome ORPHA:659642
- KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome ORPHA:633004
- RNU4-2-related neurodevelopmental disorder-facial dysmorphism-white matter abnormalities-short stature syndrome ORPHA:686488
- Brachymorphism-onychodysplasia-dysphalangism syndrome ORPHA:1292
- Werner syndrome ORPHA:902
- Rubinstein-Taybi syndrome ORPHA:783
- Rubinstein-Taybi syndrome due to CREBBP mutations ORPHA:353277
- Rubinstein-Taybi syndrome due to 16p13.3 microdeletion ORPHA:353281
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ORPHA:353284
- Cornelia de Lange syndrome ORPHA:199
- Aarskog-Scott syndrome ORPHA:915
- Bloom syndrome ORPHA:125
- Dubowitz syndrome ORPHA:235
- Silver-Russell syndrome ORPHA:813
- Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 ORPHA:96182
- Silver-Russell syndrome due to 7p11.2p13 microduplication ORPHA:231137
- Silver-Russell syndrome due to an imprinting defect of 11p15 ORPHA:231140
- Silver-Russell syndrome due to 11p15 microduplication ORPHA:231144
- Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 ORPHA:231147
- Silver-Russell syndrome due to a point mutation ORPHA:397590
- Autosomal recessive faciodigitogenital syndrome ORPHA:1974
- Floating-Harbor syndrome ORPHA:2044
- Hallermann-Streiff syndrome ORPHA:2108
- Johanson-Blizzard syndrome ORPHA:2315
- Kabuki syndrome ORPHA:2322
- Kenny-Caffey syndrome ORPHA:2333
- Autosomal recessive Kenny-Caffey syndrome ORPHA:93324
- Autosomal dominant Kenny-Caffey syndrome ORPHA:93325
- Mulibrey nanism ORPHA:2576
- 3M syndrome ORPHA:2616
- SHORT syndrome ORPHA:3163
- Smith-Lemli-Opitz syndrome ORPHA:818
- Robinow syndrome ORPHA:97360
- Noonan syndrome and Noonan-related syndrome ORPHA:98733
- Noonan syndrome ORPHA:648
- Costello syndrome ORPHA:3071
- Noonan syndrome with multiple lentigines ORPHA:500
- Cardiofaciocutaneous syndrome ORPHA:1340
- Noonan syndrome-like disorder with loose anagen hair ORPHA:2701
- Noonan syndrome-like disorder with juvenile myelomonocytic leukemia ORPHA:363972
- Neurofibromatosis-Noonan syndrome ORPHA:638
- King-Denborough syndrome ORPHA:99741
- Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type ORPHA:217026
- Facial dysmorphism-immunodeficiency-livedo-short stature syndrome ORPHA:352712
- Short stature-optic atrophy-Pelger-Huët anomaly syndrome ORPHA:391677
- Cono-spondylar dysplasia ORPHA:420794
- Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome ORPHA:423306
- Colobomatous microphthalmia-rhizomelic dysplasia syndrome ORPHA:424099
- X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome ORPHA:431140
- Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome ORPHA:444077
- Williams syndrome ORPHA:904
- Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome ORPHA:397623
- Oculo-palato-cerebral syndrome ORPHA:2714
- X-linked intellectual disability-short stature-overweight syndrome ORPHA:457240
- Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome ORPHA:457365
- Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome ORPHA:457395
- Eng-Strom syndrome ORPHA:1937
- Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome ORPHA:1964
- Congenital generalized hypercontractile muscle stiffness syndrome ORPHA:476406
- X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability ORPHA:480880
- Transketolase deficiency ORPHA:488618
- Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome ORPHA:494439
- 8q24.3 microdeletion syndrome ORPHA:508488
- Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome ORPHA:508498
- DONSON-related microcephaly-short stature-limb abnormalities spectrum ORPHA:572761
- Microcephaly-micromelia syndrome ORPHA:572768
- Microcephaly-short stature-limb abnormalities syndrome ORPHA:572773
- Menke-Hennekam syndrome ORPHA:592574
- Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome ORPHA:589442
- Aplastic anemia-intellectual disability-dwarfism syndrome ORPHA:611216
- Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome ORPHA:611207
- Subaortic stenosis-short stature syndrome ORPHA:3191
- Hallermann-Streiff-like syndrome ORPHA:2109
- Hydrocephalus-obesity-hypogonadism syndrome ORPHA:2183
- QRICH1-related intellectual disability-chondrodysplasia syndrome ORPHA:580940
- Genetic overgrowth/obesity syndrome ORPHA:183573
- Genetic obesity ORPHA:77828
- Genetic non-syndromic obesity ORPHA:98267
- Obesity due to congenital leptin deficiency ORPHA:66628
- Obesity due to congenital leptin resistance ORPHA:179490
- Obesity due to pro-opiomelanocortin deficiency ORPHA:71526
- Obesity due to prohormone convertase I deficiency ORPHA:71528
- Obesity due to melanocortin 4 receptor deficiency ORPHA:71529
- Obesity due to leptin receptor gene deficiency ORPHA:179494
- Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency ORPHA:329249
- Obesity due to SIM1 deficiency ORPHA:369873
- Obesity due to CEP19 deficiency ORPHA:397615
- Syndromic obesity ORPHA:240371
- Smith-Magenis syndrome ORPHA:819
- Fragile X syndrome ORPHA:908
- Prader-Willi syndrome ORPHA:739
- Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 ORPHA:98754
- Prader-Willi syndrome due to paternal 15q11q13 deletion ORPHA:98793
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 ORPHA:177901
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 ORPHA:177904
- Prader-Willi syndrome due to translocation ORPHA:177907
- Prader-Willi syndrome due to imprinting mutation ORPHA:177910
- Rubinstein-Taybi syndrome ORPHA:783
- Rubinstein-Taybi syndrome due to CREBBP mutations ORPHA:353277
- Rubinstein-Taybi syndrome due to 16p13.3 microdeletion ORPHA:353281
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ORPHA:353284
- WAGR syndrome ORPHA:893
- Coffin-Lowry syndrome ORPHA:192
- Cohen syndrome ORPHA:193
- Symptomatic form of Coffin-Lowry syndrome in female carriers ORPHA:276630
- Pseudohypoparathyroidism with Albright hereditary osteodystrophy ORPHA:457059
- Pseudohypoparathyroidism type 1A ORPHA:79443
- Pseudohypoparathyroidism type 1C ORPHA:79444
- Pseudopseudohypoparathyroidism ORPHA:79445
- Alström syndrome ORPHA:64
- Borjeson-Forssman-Lehmann syndrome ORPHA:127
- Xq21 microdeletion syndrome ORPHA:1435
- MOMO syndrome ORPHA:2563
- Wilson-Turner syndrome ORPHA:3459
- Hydrocephalus-obesity-hypogonadism syndrome ORPHA:2183
- Bardet-Biedl syndrome ORPHA:110
- Microcephalic osteodysplastic primordial dwarfism type II ORPHA:2637
- Carpenter syndrome ORPHA:65759
- MORM syndrome ORPHA:75858
- MEHMO syndrome ORPHA:85282
- Distal 16p11.2 microdeletion syndrome ORPHA:261222
- Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome ORPHA:293987
- Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome ORPHA:352530
- Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome ORPHA:363741
- Intellectual disability-seizures-macrocephaly-obesity syndrome ORPHA:369950
- Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome ORPHA:397973
- Prader-Willi-like syndrome ORPHA:398073
- CPE-related Prader-Willi-like syndrome ORPHA:633028
- 6q16 microdeletion syndrome ORPHA:171829
- SIM1-related Prader-Willi-like syndrome ORPHA:398079
- Schaaf-Yang syndrome ORPHA:398069
- Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome ORPHA:444077
- Early-onset obesity-hyperphagia-severe developmental delay syndrome ORPHA:99704
- Temple syndrome ORPHA:254516
- Temple syndrome due to maternal uniparental disomy of chromosome 14 ORPHA:96184
- Temple syndrome due to paternal 14q32.2 microdeletion ORPHA:254525
- Temple syndrome due to paternal 14q32.2 hypomethylation ORPHA:254531
- Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome ORPHA:521390
- PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome ORPHA:589905
- Short stature-brachydactyly-obesity-global developmental delay syndrome ORPHA:464288
- Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome ORPHA:652487
- Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome ORPHA:620363
- Clark-Baraitser syndrome ORPHA:600731
- MYT1L-related developmental delay-intellectual disability-obesity syndrome ORPHA:647799
- Overgrowth syndrome ORPHA:93460
- Sturge-Weber syndrome ORPHA:3205
- Beckwith-Wiedemann syndrome ORPHA:116
- Beckwith-Wiedemann syndrome due to 11p15 microduplication ORPHA:96076
- Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 ORPHA:96193
- Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 ORPHA:231117
- Beckwith-Wiedemann syndrome due to CDKN1C mutation ORPHA:231120
- Beckwith-Wiedemann syndrome due to 11p15 microdeletion ORPHA:231127
- Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion ORPHA:231130
- Beckwith-Wiedemann syndrome due to NSD1 mutation ORPHA:238613
- Angioosteohypertrophic syndrome ORPHA:2346
- Proteus syndrome ORPHA:744
- Sotos syndrome ORPHA:821
- Simpson-Golabi-Behmel syndrome ORPHA:373
- Bannayan-Riley-Ruvalcaba syndrome ORPHA:109
- Isolated hemihyperplasia ORPHA:2128
- Ollier disease ORPHA:296
- Marshall-Smith syndrome ORPHA:561
- Perlman syndrome ORPHA:2849
- Neuroectodermal melanolysosomal disease ORPHA:33445
- Overgrowth-macrocephaly-facial dysmorphism syndrome ORPHA:137634
- Maffucci syndrome ORPHA:163634
- Chromosomal disease with overgrowth ORPHA:93461
- Pallister-Killian syndrome ORPHA:884
- Trisomy 5p syndrome ORPHA:1742
- 4p16.3 microduplication syndrome ORPHA:96072
- 15q overgrowth syndrome ORPHA:314585
- Tatton-Brown-Rahman syndrome ORPHA:404443
- Hypoinsulinemic hypoglycemia and body hemihypertrophy ORPHA:293964
- 11p15.4 microduplication syndrome ORPHA:300305
- Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome ORPHA:404476
- Malan overgrowth syndrome ORPHA:420179
- Megalencephaly-severe kyphoscoliosis-overgrowth syndrome ORPHA:457359
- Luscan-Lumish syndrome ORPHA:597738
- PIK3CA-related overgrowth syndrome ORPHA:530313
- Megalencephaly-capillary malformation-polymicrogyria syndrome ORPHA:60040
- Hemihyperplasia-multiple lipomatosis syndrome ORPHA:276280
- Segmental progressive overgrowth syndrome with fibroadipose hyperplasia ORPHA:314662
- CLOVES syndrome ORPHA:140944
- Hemimegalencephaly ORPHA:99802
- Macrodactyly of fingers, unilateral ORPHA:295239
- Macrodactyly of toes, unilateral ORPHA:295243
- Congenital infiltrating lipomatosis of the face ORPHA:583097
- CLAPO syndrome ORPHA:168984
- CHD8 overgrowth syndrome ORPHA:642675
- PRC-2 complex-related overgrowth spectrum ORPHA:659387
- Genetic branchial arch or oral-acral syndrome ORPHA:183576
- Oculo-auriculo-vertebral spectrum ORPHA:141132
- BOR syndrome ORPHA:107
- Treacher-Collins syndrome ORPHA:861
- Nager syndrome ORPHA:245
- Charlie M syndrome ORPHA:1406
- Postaxial acrofacial dysostosis ORPHA:246
- Moebius syndrome ORPHA:570
- Acrofacial dysostosis, Weyers type ORPHA:952
- Hypoglossia-hypodactyly syndrome ORPHA:989
- X-linked mandibulofacial dysostosis ORPHA:1131
- Lambert syndrome ORPHA:1296
- Acrofacial dysostosis, Catania type ORPHA:1786
- Acrofacial dysostosis, Rodríguez type ORPHA:1788
- Frontofacionasal dysplasia ORPHA:1791
- Splenogonadal fusion-limb defects-micrognathia syndrome ORPHA:2063
- Hypertelorism-microtia-facial clefting syndrome ORPHA:2213
- Patterson-Stevenson-Fontaine syndrome ORPHA:2439
- Oculoauriculovertebral spectrum with radial defects ORPHA:2549
- Ear-patella-short stature syndrome ORPHA:2554
- Otofaciocervical syndrome ORPHA:2792
- Wildervanck syndrome ORPHA:3456
- Otopalatodigital syndrome type 1 ORPHA:90650
- Acrofacial dysostosis, Palagonia type ORPHA:1787
- Acrofacial dysostosis, Kennedy-Teebi type ORPHA:64542
- Mandibulofacial dysostosis-microcephaly syndrome ORPHA:79113
- Auriculocondylar syndrome ORPHA:137888
- Orofaciodigital syndrome ORPHA:140997
- Orofaciodigital syndrome type 1 ORPHA:2750
- Orofaciodigital syndrome type 2 ORPHA:2751
- Orofaciodigital syndrome type 4 ORPHA:2753
- Orofaciodigital syndrome type 6 ORPHA:2754
- Orofaciodigital syndrome type 8 ORPHA:2755
- Orofaciodigital syndrome type 5 ORPHA:2919
- Orofaciodigital syndrome type 11 ORPHA:141000
- Orofaciodigital syndrome type 9 ORPHA:141007
- Orofaciodigital syndrome type 14 ORPHA:434179
- Oral-facial-digital syndrome with short stature and brachymesophalangy ORPHA:508501
- Epibulbar lipodermoid-preauricular appendage-polythelia syndrome ORPHA:231742
- Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome ORPHA:306542
- Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome ORPHA:357158
- Otopalatodigital syndrome type 2 ORPHA:90652
- Genetic malformation syndrome with odontal and/or periodontal component ORPHA:183580
- Oculocerebral hypopigmentation syndrome, Preus type ORPHA:2720
- Nance-Horan syndrome ORPHA:627
- Amelocerebrohypohidrotic syndrome ORPHA:1946
- ADULT syndrome ORPHA:978
- Enamel-renal syndrome ORPHA:1031
- Steroid dehydrogenase deficiency-dental anomalies syndrome ORPHA:3196
- Dermoodontodysplasia ORPHA:1660
- Jalili syndrome ORPHA:1873
- Ectodermal dysplasia, trichoodontoonychial type ORPHA:1818
- Blepharo-cheilo-odontic syndrome ORPHA:1997
- Cleft palate-stapes fixation-oligodontia syndrome ORPHA:2010
- Hereditary gingival fibromatosis ORPHA:2024
- Gingival fibromatosis-facial dysmorphism syndrome ORPHA:2025
- Gingival fibromatosis-hypertrichosis syndrome ORPHA:2026
- Gingival fibromatosis-progressive deafness syndrome ORPHA:2027
- Juvenile hyaline fibromatosis ORPHA:2028
- GAPO syndrome ORPHA:2067
- Hypodontia-dysplasia of nails syndrome ORPHA:2228
- KBG syndrome ORPHA:2332
- Haim-Munk syndrome ORPHA:2342
- Lacrimoauriculodentodigital syndrome ORPHA:2363
- Pyramidal molars-abnormal upper lip syndrome ORPHA:2561
- Oculodental syndrome, Rutherfurd type ORPHA:2709
- Oculodentodigital dysplasia ORPHA:2710
- Oculofaciocardiodental syndrome ORPHA:2712
- Oculocerebral hypopigmentation syndrome, Cross type ORPHA:2719
- Odonto-onycho-dermal dysplasia ORPHA:2721
- Odonto-onycho dysplasia-alopecia syndrome ORPHA:2722
- Odontotrichomelic syndrome ORPHA:2723
- Odontomatosis-aortae esophagus stenosis syndrome ORPHA:2724
- Otodental syndrome ORPHA:2791
- Papillon-Lefèvre syndrome ORPHA:678
- Pilodental dysplasia-refractive errors syndrome ORPHA:2892
- Brachyolmia-amelogenesis imperfecta syndrome ORPHA:2899
- Postaxial polydactyly-dental and vertebral anomalies syndrome ORPHA:2916
- Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome ORPHA:2972
- Ramon syndrome ORPHA:3019
- Steatocystoma multiplex-natal teeth syndrome ORPHA:3184
- Deafness-enamel hypoplasia-nail defects syndrome ORPHA:3220
- Deafness-oligodontia syndrome ORPHA:3230
- Trichodental syndrome ORPHA:3351
- Tricho-dento-osseous syndrome ORPHA:3352
- Trichodermodysplasia-dental alterations syndrome ORPHA:3353
- Trichoodontoonychial dysplasia ORPHA:3355
- Zimmermann-Laband syndrome ORPHA:3473
- Schöpf-Schulz-Passarge syndrome ORPHA:50944
- Odonto-tricho-ungual-digito-palmar syndrome ORPHA:69082
- Ectodermal dysplasia with natal teeth, Turnpenny type ORPHA:69083
- Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome ORPHA:71267
- Trichodysplasia-amelogenesis imperfecta syndrome ORPHA:79129
- Oculootodental syndrome ORPHA:99806
- Odontochondrodysplasia ORPHA:166272
- Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia ORPHA:166277
- Craniosynostosis-dental anomalies ORPHA:284149
- Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome ORPHA:477993
- Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome ORPHA:664438
- Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome ORPHA:598603
- Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome ORPHA:684232
- Genetic head and neck malformation ORPHA:183583
- Otomandibular dysplasia ORPHA:155896
- Auriculocondylar syndrome ORPHA:137888
- Oculo-auriculo-vertebral spectrum ORPHA:141132
- Mandibulofacial dysostosis ORPHA:155899
- Treacher-Collins syndrome ORPHA:861
- Acrodysostosis ORPHA:950
- Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome ORPHA:357158
- Mandibulofacial dysostosis with alopecia ORPHA:443995
- Otomandibular dysplasia associated with monogenic syndromes ORPHA:156202
- Macroglossia ORPHA:156207
- Beckwith-Wiedemann syndrome ORPHA:116
- Beckwith-Wiedemann syndrome due to 11p15 microduplication ORPHA:96076
- Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 ORPHA:96193
- Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 ORPHA:231117
- Beckwith-Wiedemann syndrome due to CDKN1C mutation ORPHA:231120
- Beckwith-Wiedemann syndrome due to 11p15 microdeletion ORPHA:231127
- Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion ORPHA:231130
- Beckwith-Wiedemann syndrome due to NSD1 mutation ORPHA:238613
- Congenital macroglossia ORPHA:2430
- Simpson-Golabi-Behmel syndrome ORPHA:373
- Isolated hemihyperplasia ORPHA:2128
- Hemifacial hyperplasia ORPHA:141145
- Hemifacial myohyperplasia ORPHA:141148
- Hypoglossia/aglossia ORPHA:156212
- Isolated congenital hypoglossia/aglossia ORPHA:141152
- Oromandibular-limb anomalies syndrome ORPHA:156215
- Oromandibular-limb hypogenesis syndrome ORPHA:2749
- Charlie M syndrome ORPHA:1406
- Hypoglossia-hypodactyly syndrome ORPHA:989
- Glossopalatine ankylosis ORPHA:141163
- Orofaciodigital syndrome ORPHA:140997
- Orofaciodigital syndrome type 1 ORPHA:2750
- Orofaciodigital syndrome type 2 ORPHA:2751
- Orofaciodigital syndrome type 4 ORPHA:2753
- Orofaciodigital syndrome type 6 ORPHA:2754
- Orofaciodigital syndrome type 8 ORPHA:2755
- Orofaciodigital syndrome type 5 ORPHA:2919
- Orofaciodigital syndrome type 11 ORPHA:141000
- Orofaciodigital syndrome type 9 ORPHA:141007
- Orofaciodigital syndrome type 14 ORPHA:434179
- Oral-facial-digital syndrome with short stature and brachymesophalangy ORPHA:508501
- Paralytic facial malformation ORPHA:156224
- Moebius syndrome ORPHA:570
- Isolated hereditary congenital facial paralysis ORPHA:306527
- Congenital hereditary facial paralysis-variable hearing loss syndrome ORPHA:306530
- Syndrome or malformation associated with head and neck malformations ORPHA:156237
- CHARGE syndrome ORPHA:138
- BOR syndrome ORPHA:107
- Beckwith-Wiedemann syndrome ORPHA:116
- Beckwith-Wiedemann syndrome due to 11p15 microduplication ORPHA:96076
- Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 ORPHA:96193
- Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 ORPHA:231117
- Beckwith-Wiedemann syndrome due to CDKN1C mutation ORPHA:231120
- Beckwith-Wiedemann syndrome due to 11p15 microdeletion ORPHA:231127
- Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion ORPHA:231130
- Beckwith-Wiedemann syndrome due to NSD1 mutation ORPHA:238613
- Monosomy 18q syndrome ORPHA:1600
- Postaxial acrofacial dysostosis ORPHA:246
- Isolated Pierre Robin sequence ORPHA:718
- Proteus syndrome ORPHA:744
- Sturge-Weber syndrome ORPHA:3205
- Simpson-Golabi-Behmel syndrome ORPHA:373
- Van der Woude syndrome ORPHA:888
- Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome ORPHA:1071
- Ankyloblepharon filiforme adnatum-cleft palate syndrome ORPHA:1072
- Ankyloblepharon filiforme adnatum-imperforate anus syndrome ORPHA:1074
- Arthrogryposis multiplex congenita-whistling face syndrome ORPHA:1150
- Maxillonasal dysplasia ORPHA:1248
- CHAND syndrome ORPHA:1401
- EEC syndrome ORPHA:1896
- Multiple pterygium-malignant hyperthermia syndrome ORPHA:2215
- Marden-Walker syndrome ORPHA:2461
- Adducted thumbs-arthrogryposis syndrome, Christian type ORPHA:2952
- Van den Ende-Gupta syndrome ORPHA:2460
- Otopalatodigital syndrome type 1 ORPHA:90650
- Isolated ankyloblepharon filiforme adnatum ORPHA:91397
- Orofacial clefting syndrome ORPHA:139039
- Meckel syndrome ORPHA:564
- Diamond-Blackfan anemia ORPHA:124
- Roberts syndrome ORPHA:3103
- Uveal coloboma-cleft lip and palate-intellectual disability ORPHA:1473
- Carey-Fineman-Ziter syndrome ORPHA:1358
- Aase-Smith syndrome ORPHA:916
- Ablepharon macrostomia syndrome ORPHA:920
- Abruzzo-Erickson syndrome ORPHA:921
- Bamforth-Lazarus syndrome ORPHA:1226
- Bencze syndrome ORPHA:1241
- Branchio-oculo-facial syndrome ORPHA:1297
- Catel-Manzke syndrome ORPHA:1388
- Contractures-ectodermal dysplasia-cleft lip/palate syndrome ORPHA:1484
- Crane-Heise syndrome ORPHA:1512
- Femoral-facial syndrome ORPHA:1988
- Pai syndrome ORPHA:1993
- Cleft lip-retinopathy syndrome ORPHA:1995
- Blepharo-cheilo-odontic syndrome ORPHA:1997
- Cleft lip/palate-intestinal malrotation-cardiopathy syndrome ORPHA:2001
- Cleft lip/palate-deafness-sacral lipoma syndrome ORPHA:2003
- Acrocardiofacial syndrome ORPHA:2008
- Cleft palate-large ears-small head syndrome ORPHA:2013
- Cleft palate-lateral synechia syndrome ORPHA:2016
- Genitopalatocardiac syndrome ORPHA:2075
- Gordon syndrome ORPHA:376
- Hartsfield syndrome ORPHA:2117
- Holzgreve syndrome ORPHA:2167
- Hydrolethalus ORPHA:2189
- Hypertelorism-microtia-facial clefting syndrome ORPHA:2213
- Juberg-Hayward syndrome ORPHA:2319
- Kapur-Toriello syndrome ORPHA:2328
- Macrosomia-microphthalmia-cleft palate syndrome ORPHA:2432
- Dysraphism-cleft lip/palate-limb reduction defects syndrome ORPHA:2476
- Microbrachycephaly-ptosis-cleft lip syndrome ORPHA:2511
- Microcephaly-cleft palate-abnormal retinal pigmentation syndrome ORPHA:2521
- Mesomelic dwarfism-cleft palate-camptodactyly syndrome ORPHA:2631
- Oculo-palato-cerebral syndrome ORPHA:2714
- Odontotrichomelic syndrome ORPHA:2723
- Lethal omphalocele-cleft palate syndrome ORPHA:2736
- W syndrome ORPHA:2804
- PARC syndrome ORPHA:2825
- Fuhrmann syndrome ORPHA:2854
- Pierre Robin syndrome-faciodigital anomaly syndrome ORPHA:2888
- Hardikar syndrome ORPHA:1415
- RAPADILINO syndrome ORPHA:3021
- Richieri Costa-Pereira syndrome ORPHA:3102
- Robin sequence-oligodactyly syndrome ORPHA:3104
- Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome ORPHA:3201
- Cleft lip/palate-ectodermal dysplasia syndrome ORPHA:3253
- Thomas syndrome ORPHA:3316
- Tibial aplasia-ectrodactyly syndrome ORPHA:3329
- Toriello-Carey syndrome ORPHA:3338
- Velo-facial-skeletal syndrome ORPHA:3424
- Verloove Vanhorick-Brubakk syndrome ORPHA:3429
- Weaver-Williams syndrome ORPHA:3448
- Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome ORPHA:477993
- Cleft palate-short stature-vertebral anomalies syndrome ORPHA:2015
- Dysmorphism-cleft palate-loose skin syndrome ORPHA:1779
- Syngnathia-cleft palate syndrome ORPHA:3263
- Larsen syndrome ORPHA:503
- Goldberg-Shprintzen megacolon syndrome ORPHA:66629
- Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome ORPHA:77300
- Mandibulofacial dysostosis-microcephaly syndrome ORPHA:79113
- Macular coloboma-cleft palate-hallux valgus syndrome ORPHA:91494
- Bilateral microtia-deafness-cleft palate syndrome ORPHA:140963
- Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome ORPHA:163649
- Autosomal dominant otospondylomegaepiphyseal dysplasia ORPHA:166100
- Native American myopathy ORPHA:168572
- Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome ORPHA:306542
- X-linked cleft palate and ankyloglossia ORPHA:324601
- Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome ORPHA:660021
- Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome ORPHA:508476
- Oculomaxillofacial dysostosis ORPHA:1794
- Orofaciodigital syndrome ORPHA:140997
- Orofaciodigital syndrome type 1 ORPHA:2750
- Orofaciodigital syndrome type 2 ORPHA:2751
- Orofaciodigital syndrome type 4 ORPHA:2753
- Orofaciodigital syndrome type 6 ORPHA:2754
- Orofaciodigital syndrome type 8 ORPHA:2755
- Orofaciodigital syndrome type 5 ORPHA:2919
- Orofaciodigital syndrome type 11 ORPHA:141000
- Orofaciodigital syndrome type 9 ORPHA:141007
- Orofaciodigital syndrome type 14 ORPHA:434179
- Oral-facial-digital syndrome with short stature and brachymesophalangy ORPHA:508501
- Popliteal pterygium syndrome ORPHA:294963
- Genetic syndromic Pierre Robin syndrome ORPHA:363294
- Intellectual disability-brachydactyly-Pierre Robin syndrome ORPHA:364577
- TARP syndrome ORPHA:2886
- Pierre Robin syndrome associated with collagen disease ORPHA:138041
- Stickler syndrome ORPHA:828
- Stickler syndrome type 1 ORPHA:90653
- Stickler syndrome type 2 ORPHA:90654
- Autosomal recessive Stickler syndrome ORPHA:250984
- Kniest dysplasia ORPHA:485
- Autosomal dominant otospondylomegaepiphyseal dysplasia ORPHA:166100
- Pierre Robin syndrome associated with a chromosomal anomaly ORPHA:138047
- 22q11.2 deletion syndrome ORPHA:567
- Contractures-developmental delay-Pierre Robin syndrome ORPHA:436003
- 21q22.11q22.12 microdeletion syndrome ORPHA:261323
- Pierre Robin syndrome associated with branchial archs anomalies ORPHA:138050
- Pierre Robin syndrome associated with bone disease ORPHA:138055
- Otopalatodigital syndrome type 2 ORPHA:90652
- SATB2-associated syndrome ORPHA:576278
- Genetic facial cleft ORPHA:414726
- Tessier number 4 facial cleft ORPHA:141258
- Lateral facial cleft ORPHA:141269
- Frontorhiny ORPHA:391474
- Familial median cleft of the upper and lower lips ORPHA:401942
- Genetic otorhinolaryngological malformation ORPHA:435603
- Pinnae and external auditory canal anomaly ORPHA:156243
- Microtia ORPHA:83463
- Anotia ORPHA:93976
- External auditory canal aplasia/hypoplasia ORPHA:141074
- External auditory canal atresia-vertical talus-hypertelorism syndrome ORPHA:3023
- Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome ORPHA:397623
- X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome ORPHA:500188
- Genetic nose and cavum anomaly ORPHA:435606
- Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome ORPHA:2250
- Burn-McKeown syndrome ORPHA:1200
- Blepharonasofacial malformation syndrome ORPHA:1252
- Lacrimoauriculodentodigital syndrome ORPHA:2363
- Bifid nose ORPHA:2695
- Radial ray hypoplasia-choanal atresia syndrome ORPHA:3026
- Intractable diarrhea-choanal atresia-eye anomalies syndrome ORPHA:137622
- BNAR syndrome ORPHA:217266
- Familial congenital nasolacrimal duct obstruction ORPHA:451612
- Lymphedema-posterior choanal atresia syndrome ORPHA:99141
- Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome ORPHA:589856
- Genetic larynx anomaly ORPHA:435609
- Congenital laryngomalacia ORPHA:2373
- Isolated congenital laryngeal web ORPHA:2374
- Larynx atresia ORPHA:1202
- Congenital velopharyngeal incompetence ORPHA:2291
- Laryngeal abductor paralysis ORPHA:2808
- Genetic tracheal anomaly ORPHA:435612
- Genetic vascular anomaly ORPHA:211240
- Cerebral arteriovenous malformation ORPHA:46724
- Rare genetic capillary malformation ORPHA:459526
- Hereditary hemorrhagic telangiectasia ORPHA:774
- Familial multiple nevi flammei ORPHA:624
- Rare capillary malformation with associated anomalies ORPHA:458830
- Primary lymphedema ORPHA:77240
- Primary lymphedema without systemic or visceral involvement ORPHA:568041
- Congenital primary lymphedema without systemic or visceral involvement ORPHA:2416
- Amniotic band syndrome ORPHA:295000
- Milroy disease ORPHA:79452
- Microcephaly-lymphedema-chorioretinopathy syndrome ORPHA:2526
- German syndrome ORPHA:2077
- Congenital primary lymphedema of Gordon ORPHA:569821
- Late-onset primary lymphedema without systemic or visceral involvement ORPHA:289825
- Primary lymphedema with systemic or visceral involvement ORPHA:568044
- Dahlberg-Borer-Newcomer syndrome ORPHA:1563
- Lymphedema with yellow nails ORPHA:662
- Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome ORPHA:69735
- Aplasia cutis congenita-intestinal lymphangiectasia syndrome ORPHA:1116
- Lymphedema-atrial septal defects-facial changes syndrome ORPHA:86915
- Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome ORPHA:568056
- PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis ORPHA:568062
- EPHB4-related lymphatic-related hydrops fetalis ORPHA:568065
- Hennekam syndrome ORPHA:2136
- Disorder with multisystemic involvement and primary lymphedema ORPHA:568047
- Fabry disease ORPHA:324
- Takenouchi-Kosaki syndrome ORPHA:487796
- Noonan syndrome ORPHA:648
- Turner syndrome ORPHA:881
- Monosomy X syndrome ORPHA:99226
- Mosaic monosomy X syndrome ORPHA:99228
- Turner syndrome due to structural X chromosome anomalies ORPHA:99413
- Tuberous sclerosis complex ORPHA:805
- Cardiofaciocutaneous syndrome ORPHA:1340
- Prolidase deficiency ORPHA:742
- Oculodentodigital dysplasia ORPHA:2710
- PEHO syndrome ORPHA:2836
- Müllerian derivatives-lymphangiectasia-polydactyly syndrome ORPHA:1655
- Phelan-McDermid syndrome ORPHA:48652
- Phelan-McDermid syndrome due to SHANK3 mutation ORPHA:662172
- Phelan-McDermid syndrome due to 22q13.3 deletion ORPHA:662169
- Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome ORPHA:69088
- PEHO-like syndrome ORPHA:99807
- Genetic complex vascular malformation with associated anomalies ORPHA:459537
- Proteus syndrome ORPHA:744
- Angioosteohypertrophic syndrome ORPHA:2346
- Bannayan-Riley-Ruvalcaba syndrome ORPHA:109
- Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome ORPHA:137608
- CLOVES syndrome ORPHA:140944
- Maffucci syndrome ORPHA:163634
- Rare genetic vascular tumor ORPHA:459543
- PHACE syndrome ORPHA:42775
- Retinal capillary malformation ORPHA:71213
- Pseudomyogenic hemangioendothelioma ORPHA:673556
- Tufted angioma ORPHA:1063
- Hereditary neurocutaneous malformation ORPHA:1062
- Epithelioid hemangioendothelioma ORPHA:157791
- Anastomosing haemangioma ORPHA:675359
- Epithelioid hemangioma ORPHA:675396
- Capillary malformation-arteriovenous malformation ORPHA:137667
- Rare genetic venous malformation ORPHA:459548
- Mucocutaneous venous malformations ORPHA:2451
- Blue rubber bleb nevus ORPHA:1059
- Familial cerebral cavernous malformation ORPHA:221061
- Glomuvenous malformation ORPHA:83454
- Familial patent arterial duct ORPHA:466729
- Vein of Galen aneurysmal malformation ORPHA:1053
- Genetic cardiac anomaly ORPHA:271853
- Interatrial communication ORPHA:1478
- Atrial septal defect, ostium secundum type ORPHA:99103
- Atrial septal defect, coronary sinus type ORPHA:99104
- Atrial septal defect, sinus venosus type ORPHA:99105
- Atrial septal defect, ostium primum type ORPHA:99106
- Supravalvular aortic stenosis ORPHA:3193
- Left sided atrial isomerism ORPHA:566862
- Double outlet right ventricle ORPHA:3426
- Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis ORPHA:99043
- Double outlet right ventricle with subpulmonary ventricular septal defect ORPHA:99045
- Double outlet right ventricle with non-committed subpulmonary ventricular septal defect ORPHA:99046
- Double outlet right ventricle with subaortic or doubly committed ventricular septal defect ORPHA:423693
- Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy ORPHA:423712
- Congenitally uncorrected transposition of the great arteries ORPHA:860
- Congenitally uncorrected transposition of the great arteries with coarctation ORPHA:99042
- Isolated congenitally uncorrected transposition of the great arteries ORPHA:216718
- Congenitally uncorrected transposition of the great arteries with cardiac malformation ORPHA:216729
- Situs inversus totalis ORPHA:101063
- Situs ambiguus ORPHA:157769
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency ORPHA:369891
- Familial bicuspid aortic valve ORPHA:402075
- Familial patent arterial duct ORPHA:466729
- Right sided atrial isomerism ORPHA:97548
- Atrioventricular septal defect ORPHA:98722
- Complete atrioventricular septal defect ORPHA:1329
- Complete atrioventricular septal defect-tetralogy of Fallot ORPHA:99068
- Complete atrioventricular septal defect with ventricular hypoplasia ORPHA:99067
- Complete atrioventricular septal defect without ventricular hypoplasia ORPHA:576227
- Partial atrioventricular septal defect ORPHA:1330
- Partial atrioventricular septal defect without ventricular hypoplasia ORPHA:576235
- Partial atrioventricular septal defect with ventricular hypoplasia ORPHA:576232
- Intermediate atrioventricular septal defect ORPHA:576242
- Familial mitral valve prolapse ORPHA:741
- Familial omphalocele syndrome with facial dysmorphism ORPHA:280403
- Genetic difference of sex development ORPHA:325690
- Sex chromosome difference of sex development ORPHA:325546
- Turner syndrome ORPHA:881
- Monosomy X syndrome ORPHA:99226
- Mosaic monosomy X syndrome ORPHA:99228
- Turner syndrome due to structural X chromosome anomalies ORPHA:99413
- 48,XXYY syndrome ORPHA:10
- 45,X/46,XY mixed gonadal dysgenesis ORPHA:1772
- 48,XXXY syndrome ORPHA:96263
- 49,XXXXY syndrome ORPHA:96264
- Tetragametic chimerism syndrome ORPHA:199310
- Genetic 46,XX difference of sex development ORPHA:325697
- 46,XX difference of sex development induced by fetal androgens excess ORPHA:90776
- Generalized glucocorticoid resistance syndrome ORPHA:786
- Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency ORPHA:90791
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ORPHA:90794
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form ORPHA:315306
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form ORPHA:315311
- Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency ORPHA:90795
- Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency ORPHA:95699
- Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis ORPHA:63269
- 46,XX disorder of gonadal development ORPHA:325055
- 46,XX gonadal dysgenesis ORPHA:243
- 46,XX ovotesticular difference of sex development ORPHA:2138
- 46,XX testicular difference of sex development ORPHA:393
- 46,XX ovarian dysgenesis-short stature syndrome ORPHA:444048
- 46,XX difference of sex development induced by fetoplacental androgens excess ORPHA:325061
- Syndrome with 46,XX difference of sex development ORPHA:325109
- PAGOD syndrome ORPHA:991
- Perrault syndrome ORPHA:2855
- 46,XX difference of sex development-anorectal anomalies syndrome ORPHA:2973
- 46,XX difference of sex development-skeletal anomalies syndrome ORPHA:2975
- Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome ORPHA:85112
- Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome ORPHA:137631
- SERKAL syndrome ORPHA:139466
- Müllerian aplasia and hyperandrogenism ORPHA:247768
- Genetic 46,XY difference of sex development ORPHA:325706
- Syndrome with 46,XY difference of sex development ORPHA:98087
- WAGR syndrome ORPHA:893
- Distal deletion 9p syndrome ORPHA:1642
- XY type gonadal dysgenesis-associated anomalies syndrome ORPHA:1770
- Difference of sex development-intellectual disability syndrome ORPHA:2983
- Chondrodysplasia-difference of sex development syndrome ORPHA:1422
- X-linked alpha-thalassemia-intellectual disability syndrome ORPHA:847
- Campomelic dysplasia ORPHA:140
- PAGOD syndrome ORPHA:991
- Dysmorphism-short stature-deafness-difference of sex development syndrome ORPHA:2282
- Meacham syndrome ORPHA:3097
- Denys-Drash syndrome ORPHA:220
- Frasier syndrome ORPHA:347
- X-linked lissencephaly with abnormal genitalia ORPHA:452
- Familial adrenal hypoplasia with absent pituitary luteinizing hormone ORPHA:95700
- 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome ORPHA:168563
- Sudden infant death-dysgenesis of the testes syndrome ORPHA:168593
- X-linked myotubular myopathy-abnormal genitalia syndrome ORPHA:456328
- MIRAGE syndrome ORPHA:494433
- Genitopalatocardiac syndrome ORPHA:2075
- 46,XY disorder of gonadal development ORPHA:325118
- 46,XY complete gonadal dysgenesis ORPHA:242
- Testicular regression syndrome ORPHA:983
- 46,XY partial gonadal dysgenesis ORPHA:251510
- Testicular agenesis ORPHA:325124
- 46,XY ovotesticular difference of sex development ORPHA:325345
- Genetic 46,XY difference of sex development of endocrine origin ORPHA:325713
- Androgen insensitivity syndrome ORPHA:754
- Partial androgen insensitivity syndrome ORPHA:90797
- Complete androgen insensitivity syndrome ORPHA:99429
- 46,XY difference of sex development due to impaired androgen production ORPHA:325357
- Leydig cell hypoplasia ORPHA:755
- Leydig cell hypoplasia due to complete LH resistance ORPHA:96265
- Leydig cell hypoplasia due to partial LH resistance ORPHA:96266
- Leydig cell hypoplasia due to LHB deficiency ORPHA:325448
- 46,XY difference of sex development due to a testosterone synthesis defect ORPHA:90783
- 46,XY difference of sex development due to adrenal and testicular steroidogenesis defect ORPHA:90786
- Congenital lipoid adrenal hyperplasia due to STAR deficency ORPHA:90790
- Classic congenital lipoid adrenal hyperplasia due to STAR deficency ORPHA:325524
- Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency ORPHA:325529
- Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency ORPHA:90791
- Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency ORPHA:90793
- Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency ORPHA:95699
- 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency ORPHA:168558
- Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis ORPHA:63269
- 46,XY difference of sex development due to testicular steroidogenesis defect ORPHA:90787
- 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency ORPHA:752
- 46,XY difference of sex development due to isolated 17,20-lyase deficiency ORPHA:90796
- 46,XY difference of sex development due to a cholesterol synthesis defect ORPHA:325511
- 46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue ORPHA:98086
- 46,XY difference of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect ORPHA:443090
- Genetic progeroid syndrome ORPHA:363245
- Xeroderma pigmentosum variant ORPHA:90342
- Mandibuloacral dysplasia associated to MTX2 ORPHA:647667
- Wormian bones-micrognathia-abnormal dentition-progeroid syndrome ORPHA:659873
- Donohue syndrome ORPHA:508
- Cockayne syndrome ORPHA:191
- COFS syndrome ORPHA:1466
- Cockayne syndrome type 1 ORPHA:90321
- Cockayne syndrome type 2 ORPHA:90322
- Cockayne syndrome type 3 ORPHA:90324
- Werner syndrome ORPHA:902
- Congenital generalized lipodystrophy ORPHA:528
- Familial partial lipodystrophy, Dunnigan type ORPHA:2348
- Mandibuloacral dysplasia ORPHA:2457
- Mandibuloacral dysplasia with type A lipodystrophy ORPHA:90153
- Mandibuloacral dysplasia with type B lipodystrophy ORPHA:90154
- Hutchinson-Gilford progeria syndrome ORPHA:740
- Progeria-short stature-pigmented nevi syndrome ORPHA:2959
- Pseudoprogeria syndrome ORPHA:2985
- Rothmund-Thomson syndrome ORPHA:2909
- SHORT syndrome ORPHA:3163
- Wiedemann-Rautenstrauch syndrome ORPHA:3455
- Xeroderma pigmentosum ORPHA:910
- Lipodystrophy-intellectual disability-deafness syndrome ORPHA:50811
- Atypical Werner syndrome ORPHA:79474
- Xeroderma pigmentosum-Cockayne syndrome complex ORPHA:220295
- Ogden syndrome ORPHA:276432
- Nestor-Guillermo progeria syndrome ORPHA:280576
- Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome ORPHA:363649
- Acroosteolysis-keloid-like lesions-premature aging syndrome ORPHA:363665
- Progeroid features-hepatocellular carcinoma predisposition syndrome ORPHA:435953
- PCNA-related progressive neurodegenerative photosensitivity syndrome ORPHA:438134
- Rare genetic bone development disorder ORPHA:404584
- Primary bone dysplasia ORPHA:364526
- Genetic inflammatory or rheumatoid-like osteoarthropathy ORPHA:498445
- Progressive pseudorheumatoid dysplasia ORPHA:1159
- Hyaline fibromatosis syndrome ORPHA:498474
- CINCA syndrome ORPHA:1451
- Sterile multifocal osteomyelitis with periostitis and pustulosis ORPHA:210115
- Familial tumoral calcinosis ORPHA:53715
- Familial normophosphatemic tumoral calcinosis ORPHA:306658
- Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome ORPHA:306661
- Majeed syndrome ORPHA:77297
- Overgrowth or tall stature syndrome with skeletal involvement ORPHA:498448
- X-linked severe syndromic thoracic aortic aneurysm and dissection ORPHA:622925
- PRC-2 complex-related overgrowth spectrum ORPHA:659387
- Weaver syndrome ORPHA:3447
- Cohen-Gibson syndrome ORPHA:659396
- Imagawa-Matsumoto syndrome ORPHA:659463
- Marfan syndrome ORPHA:558
- Proteus syndrome ORPHA:744
- Sotos syndrome ORPHA:821
- Marshall-Smith syndrome ORPHA:561
- CLOVES syndrome ORPHA:140944
- Congenital contractural arachnodactyly ORPHA:115
- Loeys-Dietz syndrome ORPHA:60030
- Overgrowth syndrome with 2q37 translocation ORPHA:498488
- Tall stature-long halluces-multiple extra-epiphyses syndrome ORPHA:329191
- Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome ORPHA:498485
- Kosaki overgrowth syndrome ORPHA:477831
- Luscan-Lumish syndrome ORPHA:597738
- Primary bone dysplasia with micromelia ORPHA:364536
- Achondroplasia ORPHA:15
- Hypochondroplasia ORPHA:429
- Diastrophic dysplasia ORPHA:628
- Thanatophoric dysplasia ORPHA:2655
- Chondrodysplasia-difference of sex development syndrome ORPHA:1422
- Severe achondroplasia-developmental delay-acanthosis nigricans syndrome ORPHA:85165
- Otopalatodigital syndrome spectrum disorder ORPHA:364541
- Otopalatodigital syndrome type 2 ORPHA:90652
- Frontometaphyseal dysplasia ORPHA:1826
- Melnick-Needles syndrome ORPHA:2484
- Otopalatodigital syndrome type 1 ORPHA:90650
- Frank-Ter Haar syndrome ORPHA:137834
- Short stature-advanced bone age-early-onset osteoarthritis syndrome ORPHA:435804
- Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia ORPHA:253
- Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type ORPHA:642099
- MGP-related spondyloepiphyseal dysplasia ORPHA:664377
- Hip dysplasia, Beukes type ORPHA:2114
- Schwartz-Jampel syndrome ORPHA:800
- Dyggve-Melchior-Clausen disease ORPHA:239
- Marshall syndrome ORPHA:560
- Metatropic dysplasia ORPHA:2635
- Stickler syndrome ORPHA:828
- Stickler syndrome type 1 ORPHA:90653
- Stickler syndrome type 2 ORPHA:90654
- Autosomal recessive Stickler syndrome ORPHA:250984
- Progressive pseudorheumatoid dysplasia ORPHA:1159
- Autosomal recessive otospondylomegaepiphyseal dysplasia ORPHA:1427
- Wolcott-Rallison syndrome ORPHA:1667
- Schimke immuno-osseous dysplasia ORPHA:1830
- Dyssegmental dysplasia, Silverman-Handmaker type ORPHA:1865
- Kniest dysplasia ORPHA:485
- Richieri Costa-da Silva syndrome ORPHA:3101
- Spondyloperipheral dysplasia-short ulna syndrome ORPHA:1856
- Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome ORPHA:83629
- Brachydactylous dwarfism, Mseleni type ORPHA:2619
- Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis ORPHA:93279
- Spondyloepimetaphyseal dysplasia, PAPSS2 type ORPHA:93282
- Spondyloepiphyseal dysplasia, Kimberley type ORPHA:93283
- Spondyloepiphyseal dysplasia tarda ORPHA:93284
- Spondyloepimetaphyseal dysplasia congenita, Strudwick type ORPHA:93346
- Anauxetic dysplasia ORPHA:93347
- X-linked spondyloepimetaphyseal dysplasia ORPHA:93349
- Spondyloepimetaphyseal dysplasia, Irapa type ORPHA:93351
- Spondyloepimetaphyseal dysplasia, Shohat type ORPHA:93352
- Spondyloepimetaphyseal dysplasia, Missouri type ORPHA:93356
- SPONASTRIME dysplasia ORPHA:93357
- Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome ORPHA:93358
- Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type ORPHA:93360
- Spondyloepiphyseal dysplasia congenita ORPHA:94068
- Spondyloepimetaphyseal dysplasia, Handigodu type ORPHA:99642
- Spondyloepiphyseal dysplasia with metatarsal shortening ORPHA:137678
- Spondyloepimetaphyseal dysplasia, matrilin-3 type ORPHA:156728
- Dyssegmental dysplasia, Rolland-Desbuquois type ORPHA:156731
- SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome ORPHA:157965
- Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome ORPHA:163649
- Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome ORPHA:163654
- Spondyloepiphyseal dysplasia, Reardon type ORPHA:163662
- Spondyloepiphyseal dysplasia tarda, Kohn type ORPHA:163665
- Spondyloepiphyseal dysplasia, MacDermot type ORPHA:163668
- Autosomal dominant otospondylomegaepiphyseal dysplasia ORPHA:166100
- Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome ORPHA:168443
- Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome ORPHA:168451
- Spondyloepimetaphyseal dysplasia, Geneviève type ORPHA:168454
- Spondyloepimetaphyseal dysplasia, aggrecan type ORPHA:171866
- Smith-McCort dysplasia ORPHA:178355
- Spondylo-megaepiphyseal-metaphyseal dysplasia ORPHA:228387
- Spondyloepimetaphyseal dysplasia, Maroteaux type ORPHA:263482
- Roifman syndrome ORPHA:353298
- Spondyloepimetaphyseal dysplasia, Isidor-Toutain type ORPHA:370015
- Cono-spondylar dysplasia ORPHA:420794
- Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome ORPHA:436174
- EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity ORPHA:642085
- EVEN-plus syndrome ORPHA:496751
- Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome ORPHA:611207
- CODAS syndrome ORPHA:1458
- Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome ORPHA:457395
- X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome ORPHA:459070
- Spondyloepiphyseal dysplasia, Stanescu type ORPHA:459051
- Spondylometaphyseal dysplasia ORPHA:254
- Spondylometaphyseal dysplasia, A4 type ORPHA:168555
- Regressive spondylometaphyseal dysplasia ORPHA:448267
- Spondyloenchondrodysplasia ORPHA:1855
- Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome ORPHA:85167
- Spondylometaphyseal dysplasia, Kozlowski type ORPHA:93314
- Spondylometaphyseal dysplasia, 'corner fracture' type ORPHA:93315
- Spondylometaphyseal dysplasia, Schmidt type ORPHA:93316
- Odontochondrodysplasia ORPHA:166272
- Spondylometaphyseal dysplasia, Golden type ORPHA:168544
- Axial spondylometaphyseal dysplasia ORPHA:168549
- Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome ORPHA:168552
- Spondylometaphyseal dysplasia-corneal dystrophy syndrome ORPHA:589435
- Ciliopathies with major skeletal involvement ORPHA:93426
- Short rib-polydactyly syndrome ORPHA:1505
- Short rib-polydactyly syndrome type 5 ORPHA:498497
- Jeune syndrome ORPHA:474
- Ellis Van Creveld syndrome ORPHA:289
- Cranioectodermal dysplasia ORPHA:1515
- Short rib-polydactyly syndrome, Beemer-Langer type ORPHA:93268
- Short rib-polydactyly syndrome, Majewski type ORPHA:93269
- Short rib-polydactyly syndrome, Saldino-Noonan type ORPHA:93270
- Short rib-polydactyly syndrome, Verma-Naumoff type ORPHA:93271
- Joubert syndrome with Jeune asphyxiating thoracic dystrophy ORPHA:397715
- Thoracomelic dysplasia ORPHA:1803
- Orofaciodigital syndrome type 4 ORPHA:2753
- Thoracolaryngopelvic dysplasia ORPHA:3317
- Saldino-Mainzer syndrome ORPHA:140969
- NEK9-related lethal skeletal dysplasia ORPHA:464366
- Thoracic dysplasia-hydrocephalus syndrome ORPHA:1861
- Multiple epiphyseal dysplasia and pseudoachondroplasia ORPHA:93429
- Multiple epiphyseal dysplasia ORPHA:251
- Multiple epiphyseal dysplasia type 4 ORPHA:93307
- Multiple epiphyseal dysplasia type 1 ORPHA:93308
- Multiple epiphyseal dysplasia type 5 ORPHA:93311
- Multiple epiphyseal dysplasia due to collagen 9 anomaly ORPHA:166002
- Multiple epiphyseal dysplasia, Lowry type ORPHA:166016
- Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome ORPHA:166024
- Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome ORPHA:166029
- Multiple epiphyseal dysplasia-miniepiphyses syndrome ORPHA:166032
- Multiple epiphyseal dysplasia type 7 ORPHA:647676
- Lowry-Wood syndrome ORPHA:1824
- Pseudoachondroplasia ORPHA:750
- Autosomal recessive Stickler syndrome ORPHA:250984
- Multiple metaphyseal dysplasia ORPHA:93430
- Metaphyseal anadysplasia ORPHA:1040
- Metaphyseal chondrodysplasia, Schmid type ORPHA:174
- Metaphyseal chondrodysplasia, Rosenberg type ORPHA:1837
- Metaphyseal chondrodysplasia, Spahr type ORPHA:2501
- Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome ORPHA:2502
- Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome ORPHA:2504
- Cartilage-hair hypoplasia ORPHA:175
- Shwachman-Diamond syndrome ORPHA:811
- Metaphyseal chondrodysplasia, Jansen type ORPHA:33067
- Metaphyseal chondrodysplasia, Kaitila type ORPHA:166038
- Eiken syndrome ORPHA:79106
- Spondylodysplastic dysplasia ORPHA:93434
- SBDS-related severe neonatal spondylometaphyseal dysplasia ORPHA:622934
- Opsismodysplasia ORPHA:2746
- Achondrogenesis ORPHA:932
- Achondrogenesis type 2 ORPHA:93296
- Hypochondrogenesis ORPHA:93297
- Achondrogenesis type 1B ORPHA:93298
- Achondrogenesis type 1A ORPHA:93299
- Brachyolmia ORPHA:1293
- Autosomal recessive brachyolmia ORPHA:448242
- Brachyolmia-amelogenesis imperfecta syndrome ORPHA:2899
- Brachyolmia, Maroteaux type ORPHA:93302
- Autosomal dominant brachyolmia ORPHA:93304
- X-linked skeletal dysplasia-intellectual disability syndrome ORPHA:1436
- Schneckenbecken dysplasia ORPHA:3144
- Spondylocamptodactyly syndrome ORPHA:3180
- Spondylocarpotarsal synostosis ORPHA:3275
- Diaphanospondylodysostosis ORPHA:66637
- Platyspondylic dysplasia, Torrance type ORPHA:85166
- Spondylometaphyseal dysplasia, Sedaghatian type ORPHA:93317
- Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type ORPHA:401979
- Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome ORPHA:508533
- Acromelic dysplasia ORPHA:93436
- MIR140-related spondyloepiphyseal dysplasia ORPHA:623695
- Short stature-brachydactyly-obesity-global developmental delay syndrome ORPHA:464288
- Pseudohypoparathyroidism with Albright hereditary osteodystrophy ORPHA:457059
- Pseudohypoparathyroidism type 1A ORPHA:79443
- Pseudohypoparathyroidism type 1C ORPHA:79444
- Pseudopseudohypoparathyroidism ORPHA:79445
- Acrodysostosis ORPHA:950
- Acromicric dysplasia ORPHA:969
- Geleophysic dysplasia ORPHA:2623
- Intellectual disability-balding-patella luxation-acromicria syndrome ORPHA:3041
- Angel-shaped phalango-epiphyseal dysplasia ORPHA:63442
- Acrocapitofemoral dysplasia ORPHA:63446
- Craniofacial conodysplasia ORPHA:85168
- Terminal osseous dysplasia-pigmentary defects syndrome ORPHA:88630
- Trichorhinophalangeal syndrome ORPHA:324764
- Weill-Marchesani syndrome ORPHA:3449
- Myhre syndrome ORPHA:2588
- Acromesomelic dysplasia ORPHA:93437
- Acromesomelic dysplasia, Hunter-Thompson type ORPHA:968
- Acromesomelic dysplasia, Maroteaux type ORPHA:40
- Acromesomelic dysplasia, Grebe type ORPHA:2098
- Mesomelia-synostoses syndrome ORPHA:2496
- Fibular aplasia-complex brachydactyly syndrome ORPHA:2639
- Brachydactyly type A6 ORPHA:93382
- Mesomelic and rhizo-mesomelic dysplasia ORPHA:93438
- Léri-Weill dyschondrosteosis ORPHA:240
- Cleidorhizomelic syndrome ORPHA:1453
- Mesomelic dysplasia, Kantaputra type ORPHA:1836
- Fibrochondrogenesis ORPHA:2021
- Upper limb mesomelic dysplasia, type Fryns ORPHA:2497
- Mesomelic dwarfism-cleft palate-camptodactyly syndrome ORPHA:2631
- Langer mesomelic dysplasia ORPHA:2632
- Mesomelic dysplasia, Nievergelt type ORPHA:2633
- Mesomelic dwarfism, Reinhardt-Pfeiffer type ORPHA:2634
- Omodysplasia ORPHA:2733
- Rhizomelic syndrome, Urbach type ORPHA:3098
- Rhizomelic dysplasia, Patterson-Lowry type ORPHA:2831
- Atelosteogenesis type II ORPHA:56304
- Mesomelic dysplasia, Savarirayan type ORPHA:85170
- Robinow syndrome ORPHA:97360
- SHOX-related short stature ORPHA:314795
- Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome ORPHA:397623
- Colobomatous microphthalmia-rhizomelic dysplasia syndrome ORPHA:424099
- Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome ORPHA:440354
- X-linked dominant chondrodysplasia, Chassaing-Lacombe type ORPHA:163966
- EN1-related dorsoventral syndrome ORPHA:611223
- QRICH1-related intellectual disability-chondrodysplasia syndrome ORPHA:580940
- Mesomelic dysplasia-digital anomalies-intellectual disability syndrome ORPHA:632603
- Campomelic dysplasia and related disorders ORPHA:93439
- Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency ORPHA:656283
- Campomelic dysplasia ORPHA:140
- Campomelia, Cumming type ORPHA:1318
- Kyphomelic dysplasia ORPHA:1801
- Blount disease ORPHA:2768
- Weismann-Netter syndrome ORPHA:3344
- Stüve-Wiedemann syndrome ORPHA:3206
- FGFR2-related bent bone dysplasia ORPHA:313855
- Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome ORPHA:324307
- Slender bone dysplasia ORPHA:93440
- Kenny-Caffey syndrome ORPHA:2333
- Autosomal recessive Kenny-Caffey syndrome ORPHA:93324
- Autosomal dominant Kenny-Caffey syndrome ORPHA:93325
- 3M syndrome ORPHA:2616
- Osteocraniostenosis ORPHA:2763
- IMAGe syndrome ORPHA:85173
- Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome ORPHA:314394
- Ear-patella-short stature syndrome ORPHA:2554
- Thin ribs-tubular bones-dysmorphism syndrome ORPHA:1506
- Hallermann-Streiff syndrome ORPHA:2108
- Seckel syndrome ORPHA:808
- Microcephalic primordial dwarfism, Toriello type ORPHA:2643
- Microcephalic osteodysplastic primordial dwarfism type II ORPHA:2637
- Microcephalic osteodysplastic primordial dwarfism types I and III ORPHA:2636
- Microcephalic osteodysplastic dysplasia, Saul-Wilson type ORPHA:85172
- Hallermann-Streiff-like syndrome ORPHA:2109
- Lipodystrophy-intellectual disability-deafness syndrome ORPHA:50811
- DONSON-related microcephaly-short stature-limb abnormalities spectrum ORPHA:572761
- Primary bone dysplasia with multiple joint dislocations ORPHA:93441
- Larsen-like osseous dysplasia-short stature syndrome ORPHA:2370
- Atelosteogenesis type I ORPHA:1190
- Auriculoosteodysplasia ORPHA:114
- Boomerang dysplasia ORPHA:1263
- Desbuquois syndrome ORPHA:1425
- Coxoauricular syndrome ORPHA:1508
- Lethal Larsen-like syndrome ORPHA:2371
- Larsen syndrome ORPHA:503
- Atelosteogenesis type III ORPHA:56305
- Pseudodiastrophic dysplasia ORPHA:85174
- CHST3-related skeletal dysplasia ORPHA:263463
- Chondrodysplasia with joint dislocations, gPAPP type ORPHA:280586
- Larsen-like syndrome, B3GAT3 type ORPHA:284139
- Steel syndrome ORPHA:438117
- Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type ORPHA:93360
- Severe myopia-generalized joint laxity-short stature syndrome ORPHA:527450
- Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome ORPHA:589442
- Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type ORPHA:642099
- EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity ORPHA:642085
- Chondrodysplasia punctata ORPHA:93442
- Greenberg dysplasia ORPHA:1426
- CHILD syndrome ORPHA:139
- Rhizomelic chondrodysplasia punctata ORPHA:177
- Rhizomelic chondrodysplasia punctata type 3 ORPHA:309803
- Rhizomelic chondrodysplasia punctata type 1 ORPHA:309789
- Rhizomelic chondrodysplasia punctata type 2 ORPHA:309796
- Rhizomelic chondrodysplasia punctata type 5 ORPHA:468717
- Non-rhizomelic chondrodysplasia punctata ORPHA:176
- X-linked dominant chondrodysplasia punctata ORPHA:35173
- Brachytelephalangic chondrodysplasia punctata ORPHA:79345
- Chondrodysplasia punctata, tibial-metacarpal type ORPHA:79346
- Chondrodysplasia punctata, Toriello type ORPHA:79347
- Astley-Kendall dysplasia ORPHA:85175
- Keutel syndrome ORPHA:85202
- Primary bone dysplasia with increased bone density ORPHA:93444
- Juvenile Paget disease ORPHA:2801
- Camurati-Engelmann disease ORPHA:1328
- Craniodiaphyseal dysplasia ORPHA:1513
- Craniometaphyseal dysplasia ORPHA:1522
- Craniofacial dysostosis-diaphyseal hyperplasia syndrome ORPHA:1798
- Ghosal hematodiaphyseal dysplasia ORPHA:1802
- Lenz-Majewski hyperostotic dwarfism ORPHA:2658
- Oculodentodigital dysplasia ORPHA:2710
- Osteopathia striata-pigmentary dermopathy-white forelock syndrome ORPHA:2779
- Endosteal hyperostosis, Worth type ORPHA:2790
- Pyle disease ORPHA:3005
- Sclerosteosis ORPHA:3152
- Tricho-dento-osseous syndrome ORPHA:3352
- Hyperostosis corticalis generalisata ORPHA:3416
- Dysplastic cortical hyperostosis ORPHA:646139
- Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type ORPHA:2204
- Dysplastic cortical hyperostosis, Al-Gazali type ORPHA:646136
- Osteopetrosis and related disorders ORPHA:2781
- 12q14 microdeletion syndrome ORPHA:94063
- Isolated osteopoikilosis ORPHA:166119
- Osteopetrosis-hypogammaglobulinemia syndrome ORPHA:178389
- Intermediate osteopetrosis ORPHA:210110
- Albers-Schönberg osteopetrosis ORPHA:53
- Osteopetrosis with renal tubular acidosis ORPHA:2785
- Pycnodysostosis ORPHA:763
- Dysosteosclerosis ORPHA:1782
- Melorheostosis with osteopoikilosis ORPHA:1879
- Melorheostosis ORPHA:2485
- Osteomesopyknosis ORPHA:2777
- Osteopathia striata-cranial sclerosis syndrome ORPHA:2780
- Autosomal recessive malignant osteopetrosis ORPHA:667
- Autosomal dominant osteopetrosis type 1 ORPHA:2783
- Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome ORPHA:69088
- Infantile osteopetrosis with neuroaxonal dysplasia ORPHA:85179
- Leukocyte adhesion deficiency type III ORPHA:99844
- Osteosclerotic metaphyseal dysplasia ORPHA:500548
- Early-onset calcifying leukoencephalopathy-skeletal dysplasia ORPHA:556985
- Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome ORPHA:603494
- Osteosclerosis-ichthyosis-premature ovarian failure syndrome ORPHA:75325
- Diaphyseal medullary stenosis-bone malignancy syndrome ORPHA:85182
- Craniometadiaphyseal dysplasia, wormian bone type ORPHA:85184
- Endosteal sclerosis-cerebellar hypoplasia syndrome ORPHA:85186
- Metaphyseal dysplasia, Braun-Tinschert type ORPHA:85188
- Neonatal osteosclerotic dysplasia ORPHA:93443
- Caffey disease ORPHA:1310
- Osteosclerotic bone dysplasia ORPHA:1832
- Desmosterolosis ORPHA:35107
- Blomstrand lethal chondrodysplasia ORPHA:50945
- Primary hypertrophic osteoarthropathy ORPHA:248095
- High bone mass osteogenesis imperfecta ORPHA:314029
- Mixed sclerosing bone dystrophy with extra-skeletal manifestations ORPHA:324364
- X-linked calvarial hyperostosis ORPHA:391327
- Hyperostosis cranialis interna ORPHA:443098
- Primary bone dysplasia with decreased bone density ORPHA:93446
- Bruck syndrome ORPHA:2771
- Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome ORPHA:2772
- Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome ORPHA:2773
- Osteogenesis imperfecta ORPHA:666
- Osteogenesis imperfecta type 1 ORPHA:216796
- Osteogenesis imperfecta type 2 ORPHA:216804
- Osteogenesis imperfecta type 3 ORPHA:216812
- Osteogenesis imperfecta type 4 ORPHA:216820
- Osteogenesis imperfecta type 5 ORPHA:216828
- Cole-Carpenter syndrome ORPHA:2050
- Geroderma osteodysplastica ORPHA:2078
- Grant syndrome ORPHA:2097
- Osteopenia-intellectual disability-sparse hair syndrome ORPHA:2324
- Osteoporosis-oculocutaneous hypopigmentation syndrome ORPHA:2786
- Osteoporosis-pseudoglioma syndrome ORPHA:2788
- Complex lethal osteochondrodysplasia ORPHA:457378
- Gnathodiaphyseal dysplasia ORPHA:53697
- Singleton-Merten dysplasia ORPHA:85191
- Calvarial doughnut lesions-bone fragility syndrome ORPHA:85192
- Idiopathic juvenile osteoporosis ORPHA:85193
- Spondylo-ocular syndrome ORPHA:85194
- Autosomal recessive cutis laxa type 2 ORPHA:90350
- Autosomal recessive cutis laxa type 2A ORPHA:357058
- Autosomal recessive cutis laxa type 2B ORPHA:357064
- Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia ORPHA:166277
- Ehlers-Danlos/osteogenesis imperfecta syndrome ORPHA:230857
- TMEM165-CDG ORPHA:314667
- Chondroectodermal dysplasia with night blindness ORPHA:319195
- X-linked osteoporosis with fractures ORPHA:391330
- LRP5-related primary osteoporosis ORPHA:498481
- B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome ORPHA:536467
- Classical-like Ehlers-Danlos syndrome type 2 ORPHA:536532
- Primary bone dysplasia with defective bone mineralization ORPHA:93447
- Oculoskeletodental syndrome ORPHA:557003
- Hypophosphatasia ORPHA:436
- Perinatal lethal hypophosphatasia ORPHA:247623
- Prenatal benign hypophosphatasia ORPHA:247638
- Infantile hypophosphatasia ORPHA:247651
- Childhood-onset hypophosphatasia ORPHA:247667
- Adult hypophosphatasia ORPHA:247676
- Odontohypophosphatasia ORPHA:247685
- Neonatal severe primary hyperparathyroidism ORPHA:417
- Familial hypocalciuric hypercalcemia ORPHA:405
- Familial hypocalciuric hypercalcemia type 1 ORPHA:93372
- Familial hypocalciuric hypercalcemia type 2 ORPHA:101049
- Familial hypocalciuric hypercalcemia type 3 ORPHA:101050
- Lipodystrophy-intellectual disability-deafness syndrome ORPHA:50811
- Ossification anomalies-psychomotor developmental delay syndrome ORPHA:73230
- Eiken syndrome ORPHA:79106
- Disorders of vitamin D metabolism ORPHA:289098
- Hypophosphatemic rickets ORPHA:437
- Dent disease ORPHA:1652
- Cystinosis ORPHA:213
- Infantile nephropathic cystinosis ORPHA:411629
- Juvenile nephropathic cystinosis ORPHA:411634
- Ocular cystinosis ORPHA:411641
- Dominant hypophosphatemia with nephrolithiasis or osteoporosis ORPHA:244305
- X-linked hypophosphatemia ORPHA:89936
- Autosomal dominant hypophosphatemic rickets ORPHA:89937
- Hereditary hypophosphatemic rickets with hypercalciuria ORPHA:157215
- Autosomal recessive hypophosphatemic rickets ORPHA:289176
- Hypocalcemic rickets ORPHA:289103
- Familial calcium pyrophosphate deposition ORPHA:1416
- Primary osteolysis ORPHA:93449
- Mandibuloacral dysplasia associated to MTX2 ORPHA:647667
- Hyaline fibromatosis syndrome ORPHA:498474
- Hajdu-Cheney syndrome ORPHA:955
- Epiphyseal stippling-osteoclastic hyperplasia syndrome ORPHA:1952
- Mandibuloacral dysplasia ORPHA:2457
- Mandibuloacral dysplasia with type A lipodystrophy ORPHA:90153
- Mandibuloacral dysplasia with type B lipodystrophy ORPHA:90154
- Multicentric carpo-tarsal osteolysis with or without nephropathy ORPHA:2774
- Autosomal recessive distal osteolysis syndrome ORPHA:2776
- Hutchinson-Gilford progeria syndrome ORPHA:740
- Talo-patello-scaphoid osteolysis ORPHA:50809
- Familial expansile osteolysis ORPHA:85195
- Nestor-Guillermo progeria syndrome ORPHA:280576
- Phalangeal microgeodic syndrome ORPHA:352636
- Multicentric osteolysis-nodulosis-arthropathy spectrum ORPHA:371428
- Primary bone dysplasia with disorganized development of skeletal components ORPHA:93450
- Gorham-Stout disease ORPHA:73
- Nasu-Hakola disease ORPHA:2770
- Neurofibromatosis type 1 ORPHA:636
- 17q11 microdeletion syndrome ORPHA:97685
- Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion ORPHA:363700
- Fibrous dysplasia/McCune-Albright syndrome ORPHA:595216
- Cherubism ORPHA:184
- Dysplasia epiphysealis hemimelica ORPHA:1822
- Exostoses-anetodermia-brachydactyly type E syndrome ORPHA:1962
- Ollier disease ORPHA:296
- Metachondromatosis ORPHA:2499
- Osteoglosphonic dysplasia ORPHA:2645
- Carpotarsal osteochondromatosis ORPHA:2767
- Short stature, Brussels type ORPHA:2867
- Ramon syndrome ORPHA:3019
- Upington disease ORPHA:3408
- Multiple osteochondromas ORPHA:321
- Gnathodiaphyseal dysplasia ORPHA:53697
- Mazabraud syndrome ORPHA:57782
- Genochondromatosis type 1 ORPHA:85197
- Dysspondyloenchondromatosis ORPHA:85198
- Genochondromatosis type 2 ORPHA:93398
- Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria ORPHA:99646
- Maffucci syndrome ORPHA:163634
- Osteofibrous dysplasia ORPHA:488265
- Fibrodysplasia ossificans progressiva ORPHA:337
- Progressive osseous heteroplasia ORPHA:2762
- Cleidocranial dysplasia and isolated cranial ossification defect ORPHA:93451
- Parietal foramina with clavicular hypoplasia ORPHA:251290
- Cleidocranial dysplasia ORPHA:1452
- Delayed membranous cranial ossification ORPHA:3034
- Yunis-Varon syndrome ORPHA:3472
- Enlarged parietal foramina ORPHA:60015
- Craniosynostosis-anal anomalies-porokeratosis syndrome ORPHA:85199
- Lethal chondrodysplasia ORPHA:93465
- Bone dysplasia, lethal Holmgren type ORPHA:1842
- Lethal Kniest-like dysplasia ORPHA:2347
- Pyknoachondrogenesis ORPHA:3003
- Lethal recessive chondrodysplasia ORPHA:1423
- Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments ORPHA:364531
- Dysostosis of genetic origin ORPHA:404568
- Craniosynostosis ORPHA:1531
- Non-syndromic craniosynostosis ORPHA:139390
- Non-syndromic unisutural craniosynostosis ORPHA:620096
- Non-syndromic unicoronal craniosynostosis ORPHA:620102
- Non-syndromic unilambdoid craniosynostosis ORPHA:620113
- Non-syndromic unifrontosphenoidal craniosynostosis ORPHA:620139
- Non-syndromic unisquamosal craniosynostosis ORPHA:620146
- Non-syndromic metopic craniosynostosis ORPHA:3366
- Non-syndromic sagittal craniosynostosis ORPHA:35093
- Non-syndromic multisutural craniosynostosis ORPHA:620152
- Non-syndromic non-specific multisutural craniosynostosis ORPHA:620158
- Non-syndromic bilambdoid craniosynostosis ORPHA:620178
- Non-syndromic unicoronal and sagittal craniosynostosis ORPHA:620186
- Non-syndromic metopic and sagittal craniosynostosis ORPHA:620192
- Non-syndromic bicoronal and metopic craniosynostosis ORPHA:620198
- Non-syndromic bicoronal and sagittal craniosynostosis ORPHA:620205
- Non-syndromic pansynostosis ORPHA:620212
- Non-syndromic bicoronal craniosynostosis ORPHA:35099
- Non-syndromic bilambdoid and sagittal craniosynostosis ORPHA:1516
- Syndromic craniosynostosis ORPHA:139393
- Crouzon syndrome ORPHA:207
- C syndrome ORPHA:1308
- Apert syndrome ORPHA:87
- Antley-Bixler syndrome ORPHA:83
- Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis ORPHA:63269
- Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis ORPHA:596008
- Baller-Gerold syndrome ORPHA:1225
- Cranioectodermal dysplasia ORPHA:1515
- Craniosynostosis, Philadelphia type ORPHA:1527
- Craniotelencephalic dysplasia ORPHA:1528
- Jackson-Weiss syndrome ORPHA:1540
- Curry-Jones syndrome ORPHA:1553
- Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome ORPHA:1555
- Craniosynostosis, Herrmann-Opitz type ORPHA:2145
- Holoprosencephaly-craniosynostosis syndrome ORPHA:2163
- Lowry-MacLean syndrome ORPHA:2409
- Shprintzen-Goldberg syndrome ORPHA:2462
- Cardiocranial syndrome, Pfeiffer type ORPHA:2872
- SCARF syndrome ORPHA:3134
- FGFR2-related bent bone dysplasia ORPHA:313855
- Trigonocephaly-broad thumbs syndrome ORPHA:3365
- Trigonocephaly-short stature-developmental delay syndrome ORPHA:3369
- X-linked intellectual disability-plagiocephaly syndrome ORPHA:2898
- Craniosynostosis, Boston type ORPHA:1541
- Craniomicromelic syndrome ORPHA:1524
- Craniosynostosis-intracranial calcifications syndrome ORPHA:52054
- Muenke syndrome ORPHA:53271
- Infantile hypophosphatasia ORPHA:247651
- Craniosynostosis-anal anomalies-porokeratosis syndrome ORPHA:85199
- Crouzon syndrome-acanthosis nigricans syndrome ORPHA:93262
- Cloverleaf skull-multiple congenital anomalies syndrome ORPHA:93267
- Prenatal benign hypophosphatasia ORPHA:247638
- Cloverleaf skull-asphyxiating thoracic dysplasia syndrome ORPHA:100978
- Familial scaphocephaly syndrome ORPHA:169163
- Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome ORPHA:1538
- Familial scaphocephaly syndrome, McGillivray type ORPHA:168624
- Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome ORPHA:171839
- Osteosclerosis-developmental delay-craniosynostosis syndrome ORPHA:178377
- Acrocephalopolydactyly ORPHA:221054
- Craniosynostosis-dental anomalies ORPHA:284149
- Lethal occipital encephalocele-skeletal dysplasia syndrome ORPHA:293925
- Childhood-onset hypophosphatasia ORPHA:247667
- Noonan syndrome ORPHA:648
- Mucopolysaccharidosis ORPHA:79213
- Hyaluronidase deficiency ORPHA:67041
- Mucopolysaccharidosis type 6 ORPHA:583
- Mucopolysaccharidosis type 6, rapidly progressing ORPHA:276212
- Mucopolysaccharidosis type 6, slowly progressing ORPHA:276223
- Mucopolysaccharidosis type 7 ORPHA:584
- Mucopolysaccharidosis type 2 ORPHA:580
- Mucopolysaccharidosis type 2, severe form ORPHA:217085
- Mucopolysaccharidosis type 2, attenuated form ORPHA:217093
- Mucopolysaccharidosis type 1 ORPHA:579
- Mucopolysaccharidosis type 3 ORPHA:581
- Sanfilippo syndrome type A ORPHA:79269
- Sanfilippo syndrome type B ORPHA:79270
- Sanfilippo syndrome type C ORPHA:79271
- Sanfilippo syndrome type D ORPHA:79272
- Mucopolysaccharidosis type 4 ORPHA:582
- Mucopolysaccharidosis type 10 ORPHA:662216
- Osteoglosphonic dysplasia ORPHA:2645
- Williams syndrome ORPHA:904
- Radioulnar synostosis-developmental delay-hypotonia syndrome ORPHA:3270
- Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome ORPHA:369837
- Craniofrontonasal dysplasia ORPHA:1520
- 3MC syndrome ORPHA:293843
- Thanatophoric dysplasia ORPHA:2655
- Pycnodysostosis ORPHA:763
- Coffin-Siris syndrome ORPHA:1465
- Acrocallosal syndrome ORPHA:36
- Dubowitz syndrome ORPHA:235
- Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome ORPHA:647681
- Craniosynostosis-microretrognathia-severe intellectual disability syndrome ORPHA:565858
- Craniosynostosis-facial dysmorphism-brachydactyly syndrome ORPHA:672979
- Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome ORPHA:672985
- KBG syndrome ORPHA:2332
- Koolen-De Vries syndrome ORPHA:96169
- 17q21.31 microdeletion syndrome ORPHA:363958
- Koolen-De Vries syndrome due to a point mutation ORPHA:363965
- Bohring-Opitz syndrome ORPHA:97297
- Fetal valproate spectrum disorder ORPHA:1906
- Pfeiffer syndrome ORPHA:710
- Pfeiffer syndrome type 1 ORPHA:93258
- Pfeiffer syndrome type 2 ORPHA:93259
- Pfeiffer syndrome type 3 ORPHA:93260
- Saethre-Chotzen syndrome ORPHA:794
- Carpenter syndrome ORPHA:65759
- Congenital pseudoarthrosis of the clavicle ORPHA:66630
- Dysostosis with predominant craniofacial involvement ORPHA:93453
- Cantú syndrome ORPHA:1517
- Oculomaxillofacial dysostosis ORPHA:1794
- Frontonasal dysplasia ORPHA:250
- SPECC1L-related hypertelorism syndrome ORPHA:1519
- Craniofrontonasal dysplasia ORPHA:1520
- Craniofrontonasal dysplasia-Poland anomaly syndrome ORPHA:1521
- Pai syndrome ORPHA:1993
- Frontofacionasal dysplasia ORPHA:1791
- Acromelic frontonasal dysplasia ORPHA:1827
- Frontonasal dysplasia-alopecia-genital anomalies syndrome ORPHA:228390
- Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome ORPHA:306542
- Frontorhiny ORPHA:391474
- Oculoauriculofrontonasal syndrome ORPHA:398156
- SIX2-related frontonasal dysplasia ORPHA:488437
- Craniorhiny ORPHA:157832
- Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome ORPHA:521308
- Oculoauriculovertebral spectrum with radial defects ORPHA:2549
- Familial osteodysplasia, Anderson type ORPHA:2769
- Teebi-Shaltout syndrome ORPHA:3291
- Craniofaciofrontodigital syndrome ORPHA:363705
- Otomandibular dysplasia ORPHA:155896
- Auriculocondylar syndrome ORPHA:137888
- Oculo-auriculo-vertebral spectrum ORPHA:141132
- Mandibulofacial dysostosis ORPHA:155899
- Treacher-Collins syndrome ORPHA:861
- Acrodysostosis ORPHA:950
- Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome ORPHA:357158
- Mandibulofacial dysostosis with alopecia ORPHA:443995
- Otomandibular dysplasia associated with monogenic syndromes ORPHA:156202
- Orofaciodigital syndrome ORPHA:140997
- Orofaciodigital syndrome type 1 ORPHA:2750
- Orofaciodigital syndrome type 2 ORPHA:2751
- Orofaciodigital syndrome type 4 ORPHA:2753
- Orofaciodigital syndrome type 6 ORPHA:2754
- Orofaciodigital syndrome type 8 ORPHA:2755
- Orofaciodigital syndrome type 5 ORPHA:2919
- Orofaciodigital syndrome type 11 ORPHA:141000
- Orofaciodigital syndrome type 9 ORPHA:141007
- Orofaciodigital syndrome type 14 ORPHA:434179
- Oral-facial-digital syndrome with short stature and brachymesophalangy ORPHA:508501
- Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome ORPHA:459061
- Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome ORPHA:314555
- Dobrow syndrome ORPHA:3262
- Dysostosis with predominant vertebral and costal involvement ORPHA:93454
- Autosomal recessive spondylocostal dysostosis ORPHA:2311
- Currarino syndrome ORPHA:1552
- Cerebrocostomandibular syndrome ORPHA:1393
- Cerebrofaciothoracic dysplasia ORPHA:1394
- Ankylosing vertebral hyperostosis with tylosis ORPHA:2206
- Melhem-Fahl syndrome ORPHA:2482
- Imperforate oropharynx-costovertebral anomalies syndrome ORPHA:2759
- Pelvic dysplasia-arthrogryposis of lower limbs syndrome ORPHA:2840
- Autosomal dominant spondylocostal dysostosis ORPHA:1797
- Wildervanck syndrome ORPHA:3456
- Progressive non-infectious anterior vertebral fusion ORPHA:2062
- Isolated Klippel-Feil syndrome ORPHA:2345
- Diaphanospondylodysostosis ORPHA:66637
- Camptodactyly-tall stature-scoliosis-hearing loss syndrome ORPHA:85164
- Horizontal gaze palsy with progressive scoliosis ORPHA:2744
- Tall stature-long halluces-multiple extra-epiphyses syndrome ORPHA:329191
- Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome ORPHA:447974
- Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders ORPHA:505248
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome ORPHA:453499
- Patellar dysostosis ORPHA:93455
- Nail-patella syndrome ORPHA:2614
- Coxopodopatellar syndrome ORPHA:1509
- Ear-patella-short stature syndrome ORPHA:2554
- Isolated patella aplasia/hypoplasia ORPHA:86789
- Familial clubfoot due to PITX1 point mutation ORPHA:293150
- KAT6B-related multiple congenital anomalies syndrome ORPHA:597749
- Dysostosis of genetic origin with limb anomaly as a major feature ORPHA:404571
- Otoonychoperoneal syndrome ORPHA:2793
- External auditory canal atresia-vertical talus-hypertelorism syndrome ORPHA:3023
- Dysostosis with brachydactyly ORPHA:69028
- Dysostosis with brachydactyly without extraskeletal manifestations ORPHA:498451
- Symbrachydactyly of hands and feet ORPHA:1570
- Brachydactyly-elbow wrist dysplasia syndrome ORPHA:1275
- Preaxial digit brachydactyly-webbed fingers ORPHA:633211
- Brachydactyly type A2 ORPHA:93396
- Brachydactyly type A4 ORPHA:93394
- Brachydactyly type A6 ORPHA:93382
- Brachydactyly type A7 ORPHA:93397
- Brachydactyly type B ORPHA:93383
- Sugarman brachydactyly ORPHA:498602
- Mononen-Karnes-Senac syndrome ORPHA:2565
- Familial digital arthropathy-brachydactyly ORPHA:85169
- Brachydactyly type A1 ORPHA:93388
- Brachydactyly type C ORPHA:93384
- Brachydactyly type E ORPHA:93387
- Cooks syndrome ORPHA:1487
- Camptobrachydactyly ORPHA:1319
- Dysostosis with brachydactyly with extraskeletal manifestations ORPHA:498454
- Brachydactyly-preaxial hallux varus syndrome ORPHA:1278
- Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies ORPHA:589608
- Brachydactyly-short stature-retinitis pigmentosa syndrome ORPHA:166035
- Mammary-digital-nail syndrome ORPHA:238744
- Rubinstein-Taybi syndrome ORPHA:783
- Rubinstein-Taybi syndrome due to CREBBP mutations ORPHA:353277
- Rubinstein-Taybi syndrome due to 16p13.3 microdeletion ORPHA:353281
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ORPHA:353284
- Coffin-Siris syndrome ORPHA:1465
- 2q37 microdeletion syndrome ORPHA:1001
- Hyperphosphatasia-intellectual disability syndrome ORPHA:247262
- Brachydactyly-arterial hypertension syndrome ORPHA:1276
- Temtamy preaxial brachydactyly syndrome ORPHA:363417
- Thumb stiffness-brachydactyly-intellectual disability syndrome ORPHA:1078
- Brachymorphism-onychodysplasia-dysphalangism syndrome ORPHA:1292
- Microcephaly-brachydactyly-kyphoscoliosis syndrome ORPHA:3433
- Feingold syndrome ORPHA:1305
- Hand-foot-genital syndrome ORPHA:2438
- Adams-Oliver syndrome ORPHA:974
- Brachytelephalangy-dysmorphism-Kallmann syndrome ORPHA:1295
- Poland syndrome ORPHA:2911
- Acrodysplasia scoliosis ORPHA:2956
- Ulnar/fibula ray defect-brachydactyly syndrome ORPHA:52056
- Skeletal dysplasia-epilepsy-short stature syndrome ORPHA:1858
- Brachydactyly-long thumb syndrome ORPHA:2946
- Non-syndromic limb reduction defect ORPHA:93457
- Non-syndromic longitudinal limb defect ORPHA:498457
- Non-syndromic hemimelia ORPHA:2130
- Isolated ulnar hemimelia ORPHA:93320
- Isolated radial hemimelia ORPHA:93321
- Isolated tibial hemimelia ORPHA:93322
- Isolated fibular hemimelia ORPHA:93323
- Isolated hypoplasia of thumb ORPHA:294988
- Non-syndromic terminal transverse limb defect ORPHA:498461
- Non-syndromic complete hemimelia ORPHA:498491
- Isolated absence of both forearm and hand ORPHA:294979
- Isolated absence of both lower leg and foot ORPHA:294981
- Isolated acheiria ORPHA:294983
- Isolated apodia ORPHA:294986
- Non-syndromic amelia ORPHA:294925
- Isolated amelia of upper limb ORPHA:294967
- Isolated amelia of lower limb ORPHA:294969
- Isolated tetra-amelia ORPHA:294971
- Isolated absence/hypoplasia of fingers excluding thumb, unilateral ORPHA:973
- Isolated acheiropodia ORPHA:931
- Non-syndromic intercalary limb defects ORPHA:294927
- Isolated humeral agenesis/hypoplasia ORPHA:294973
- Isolated absence of upper arm and forearm with hand present ORPHA:294975
- Isolated absence of thigh and lower leg with foot present ORPHA:294977
- Isolated femoral agenesis/hypoplasia ORPHA:1987
- Isolated proximal femoral focal deficiency ORPHA:633228
- Isolated congenital femoral bifurcation ORPHA:667589
- Non-syndromic polydactyly, syndactyly and/or hyperphalangy ORPHA:93458
- Non-syndromic polydactyly ORPHA:2913
- Non-syndromic preaxial polydactyly ORPHA:498464
- Polydactyly of a triphalangeal thumb ORPHA:93336
- Polydactyly of an index finger ORPHA:93337
- Polysyndactyly ORPHA:93338
- Polydactyly of a biphalangeal thumb and/or hallux ORPHA:93339
- Non-syndromic postaxial polydactyly ORPHA:498467
- Non-syndromic complex polydactyly ORPHA:498470
- Non-syndromic syndactyly ORPHA:90025
- Syndactyly type 8 ORPHA:2498
- Syndactyly type 1 ORPHA:93402
- Zygodactyly type 1 ORPHA:295187
- Zygodactyly type 2 ORPHA:295189
- Zygodactyly type 3 ORPHA:295191
- Zygodactyly type 4 ORPHA:295193
- Syndactyly type 2 ORPHA:93403
- Synpolydactyly type 1 ORPHA:295195
- Synpolydactyly type 2 ORPHA:295197
- Synpolydactyly type 3 ORPHA:295199
- Syndactyly type 3 ORPHA:93404
- Syndactyly type 4 ORPHA:93405
- Syndactyly type 5 ORPHA:93406
- Mesoaxial synostotic syndactyly with phalangeal reduction ORPHA:157801
- Syndactyly type 6 ORPHA:295012
- Isolated hyperphalangy ORPHA:295002
- Syndrome with synostosis or other joint formation defect ORPHA:93459
- B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome ORPHA:75496
- Banki syndrome ORPHA:1228
- Brachydactyly-elbow wrist dysplasia syndrome ORPHA:1275
- Tarsal-carpal coalition syndrome ORPHA:1412
- OSLAM syndrome ORPHA:2760
- Leri pleonosteosis ORPHA:2900
- Multiple synostoses syndrome ORPHA:3237
- Symphalangism with multiple anomalies of hands and feet ORPHA:3246
- Proximal symphalangism ORPHA:3250
- Radioulnar synostosis-microcephaly-scoliosis syndrome ORPHA:3268
- Radioulnar synostosis-developmental delay-hypotonia syndrome ORPHA:3270
- Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome ORPHA:71289
- WT limb-blood syndrome ORPHA:3466
- Isolated pseudoarthrosis of the limbs ORPHA:157808
- Congenital pseudoarthrosis of the tibia ORPHA:295018
- Congenital pseudoarthrosis of the femur ORPHA:295020
- Congenital pseudoarthrosis of the fibula ORPHA:295022
- Congenital pseudoarthrosis of the radius ORPHA:295024
- Congenital pseudoarthrosis of the ulna ORPHA:295026
- Familial clubfoot with or without associated lower limb anomalies ORPHA:199315
- Familial clubfoot due to 17q23.1q23.2 microduplication ORPHA:238578
- Familial clubfoot due to 5q31 microdeletion ORPHA:293144
- Familial clubfoot due to PITX1 point mutation ORPHA:293150
- Heart-hand syndrome ORPHA:228184
- Holt-Oram syndrome ORPHA:392
- Heart-hand syndrome type 3 ORPHA:1342
- Heart-hand syndrome type 2 ORPHA:1350
- Brachydactyly-long thumb syndrome ORPHA:2946
- Heart-hand syndrome, Slovenian type ORPHA:168796
- Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome ORPHA:228190
- Carney complex-trismus-pseudocamptodactyly syndrome ORPHA:319340
- Non-syndromic joint formation defects ORPHA:294949
- Isolated distal symphalangism ORPHA:3248
- Isolated humero-radial synostosis ORPHA:3265
- Isolated humero-radio-ulnar synostosis ORPHA:3266
- Isolated radio-ulnar synostosis ORPHA:3269
- Isolated humero-ulnar synostosis ORPHA:94056
- Isolated tibio-fibular synostosis ORPHA:295028
- Dysostosis with combined reduction defects of upper and lower limbs ORPHA:294957
- Fibular aplasia-ectrodactyly syndrome ORPHA:1118
- Radial deficiency-tibial hypoplasia syndrome ORPHA:1121
- Ulnar hypoplasia-split foot syndrome ORPHA:1122
- Gollop-Wolfgang complex ORPHA:1986
- Femur-fibula-ulna complex ORPHA:2019
- Tibial aplasia-ectrodactyly syndrome ORPHA:3329
- Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy ORPHA:294959
- Greig cephalopolysyndactyly-contiguous gene syndrome ORPHA:658805
- B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome ORPHA:567502
- Acropectoral syndrome ORPHA:85203
- Brachydactyly-syndactyly, Zhao type ORPHA:93409
- Syndactyly-telecanthus-anogenital and renal malformations syndrome ORPHA:140952
- Orofaciodigital syndrome ORPHA:140997
- Orofaciodigital syndrome type 1 ORPHA:2750
- Orofaciodigital syndrome type 2 ORPHA:2751
- Orofaciodigital syndrome type 4 ORPHA:2753
- Orofaciodigital syndrome type 6 ORPHA:2754
- Orofaciodigital syndrome type 8 ORPHA:2755
- Orofaciodigital syndrome type 5 ORPHA:2919
- Orofaciodigital syndrome type 11 ORPHA:141000
- Orofaciodigital syndrome type 9 ORPHA:141007
- Orofaciodigital syndrome type 14 ORPHA:434179
- Oral-facial-digital syndrome with short stature and brachymesophalangy ORPHA:508501
- Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome ORPHA:357332
- Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome ORPHA:369979
- Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ORPHA:420584
- Townes-Brocks syndrome ORPHA:857
- Meckel syndrome ORPHA:564
- Acrocallosal syndrome ORPHA:36
- Acropectorovertebral dysplasia ORPHA:957
- Scalp defects-postaxial polydactyly syndrome ORPHA:1003
- Aphalangy-syndactyly-microcephaly syndrome ORPHA:1113
- Catel-Manzke syndrome ORPHA:1388
- Craniosynostosis, Philadelphia type ORPHA:1527
- Dandy-Walker malformation-postaxial polydactyly syndrome ORPHA:1566
- Fibular dimelia-diplopodia syndrome ORPHA:1757
- Ectrodactyly-polydactyly syndrome ORPHA:1892
- Gollop-Wolfgang complex ORPHA:1986
- Greig cephalopolysyndactyly syndrome ORPHA:380
- Hallux varus-preaxial polysyndactyly syndrome ORPHA:2110
- Pallister-Hall syndrome ORPHA:672
- Lacrimoauriculodentodigital syndrome ORPHA:2363
- Laurin-Sandrow syndrome ORPHA:2378
- Fuhrmann syndrome ORPHA:2854
- Polydactyly-myopia syndrome ORPHA:2917
- Oliver syndrome ORPHA:2920
- Crossed polysyndactyly ORPHA:2935
- Triphalangeal thumbs-brachyectrodactyly syndrome ORPHA:2947
- Guttmacher syndrome ORPHA:2957
- Mirror polydactyly-vertebral segmentation-limbs defects syndrome ORPHA:3004
- Sillence syndrome ORPHA:3168
- Eyebrow duplication-syndactyly syndrome ORPHA:3172
- Symphalangism with multiple anomalies of hands and feet ORPHA:3246
- Filippi syndrome ORPHA:3255
- Cenani-Lenz syndrome ORPHA:3258
- Absent tibia-polydactyly-arachnoid cyst syndrome ORPHA:3328
- Syndactyly-polydactyly-ear lobe syndrome ORPHA:3259
- Smith-Lemli-Opitz syndrome ORPHA:818
- Split hand-split foot-deafness syndrome ORPHA:71271
- FATCO syndrome ORPHA:2492
- Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome ORPHA:476119
- Split-foot malformation-mesoaxial polydactyly syndrome ORPHA:488232
- Bipartite talus ORPHA:364198
- Dysostosis with limb and face anomalies as a major feature ORPHA:364571
- Oromandibular-limb hypogenesis syndrome ORPHA:2749
- Charlie M syndrome ORPHA:1406
- Hypoglossia-hypodactyly syndrome ORPHA:989
- Glossopalatine ankylosis ORPHA:141163
- Endocrine-cerebro-osteodysplasia syndrome ORPHA:199332
- Acrofacial dysostosis ORPHA:364574
- Nager syndrome ORPHA:245
- Postaxial acrofacial dysostosis ORPHA:246
- Acrocraniofacial dysostosis ORPHA:949
- Acrofacial dysostosis, Weyers type ORPHA:952
- X-linked mandibulofacial dysostosis ORPHA:1131
- Craniofrontonasal dysplasia ORPHA:1520
- Acrofrontofacionasal dysostosis ORPHA:1784
- Acrofacial dysostosis, Catania type ORPHA:1786
- Acrofacial dysostosis, Rodríguez type ORPHA:1788
- Patterson-Stevenson-Fontaine syndrome ORPHA:2439
- Acromelic frontonasal dysplasia ORPHA:1827
- Acrofacial dysostosis, Palagonia type ORPHA:1787
- Acrofacial dysostosis, Kennedy-Teebi type ORPHA:64542
- Mandibulofacial dysostosis-microcephaly syndrome ORPHA:79113
- Richieri Costa-Pereira syndrome ORPHA:3102
- Genetic syndrome with limb reduction defects ORPHA:404574
- Intellectual disability-spasticity-ectrodactyly syndrome ORPHA:1891
- Holt-Oram syndrome ORPHA:392
- Camptodactyly syndrome, Guadalajara type 2 ORPHA:1326
- FATCO syndrome ORPHA:2492
- Mammary-digital-nail syndrome ORPHA:238744
- Thrombocythemia with distal limb defects ORPHA:329319
- Cornelia de Lange syndrome ORPHA:199
- Thrombocytopenia-absent radius syndrome ORPHA:3320
- Fanconi anemia ORPHA:84
- Roberts syndrome ORPHA:3103
- Adams-Oliver syndrome ORPHA:974
- ADULT syndrome ORPHA:978
- Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome ORPHA:988
- Hypoglossia-hypodactyly syndrome ORPHA:989
- Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome ORPHA:1071
- Ankyloblepharon filiforme adnatum-cleft palate syndrome ORPHA:1072
- Ankyloblepharon filiforme adnatum-imperforate anus syndrome ORPHA:1074
- Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome ORPHA:1112
- Aphalangy-syndactyly-microcephaly syndrome ORPHA:1113
- Lethal faciocardiomelic dysplasia ORPHA:1972
- Gollop-Wolfgang complex ORPHA:1986
- Femoral-facial syndrome ORPHA:1988
- Splenogonadal fusion-limb defects-micrognathia syndrome ORPHA:2063
- Ulna hypoplasia-intellectual disability syndrome ORPHA:2249
- IVIC syndrome ORPHA:2307
- Absence deformity of leg-cataract syndrome ORPHA:2310
- Karsch-Neugebauer syndrome ORPHA:2329
- Tetramelic monodactyly ORPHA:2564
- Fibular aplasia-complex brachydactyly syndrome ORPHA:2639
- Postaxial tetramelic oligodactyly ORPHA:2730
- Pelvis-shoulder dysplasia ORPHA:2839
- Fuhrmann syndrome ORPHA:2854
- Phocomelia, Schinzel type ORPHA:2879
- Radio-renal syndrome ORPHA:3015
- Absent radius-anogenital anomalies syndrome ORPHA:3016
- RAPADILINO syndrome ORPHA:3021
- Ulnar-mammary syndrome ORPHA:3138
- Tetraamelia-multiple malformations syndrome ORPHA:3301
- Absent tibia-polydactyly-arachnoid cyst syndrome ORPHA:3328
- Tibial aplasia-ectrodactyly syndrome ORPHA:3329
- Humerus trochlea aplasia ORPHA:3383
- Split hand-split foot-deafness syndrome ORPHA:71271
- Okihiro syndrome ORPHA:93293
- Okihiro syndrome due to 20q13 microdeletion ORPHA:261638
- Okihiro syndrome due to a point mutation ORPHA:261647
- Pelviscapular dysplasia ORPHA:93333
- Heart defects-limb shortening syndrome ORPHA:1354
- Combined immunodeficiency with facio-oculo-skeletal anomalies ORPHA:221139
- Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome ORPHA:496693
- Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome ORPHA:508542
- Split-foot malformation-mesoaxial polydactyly syndrome ORPHA:488232
- Ectrodactyly with and without other manifestations ORPHA:498477
- EEM syndrome ORPHA:1897
- Limb-mammary syndrome ORPHA:69085
- Fibular aplasia-ectrodactyly syndrome ORPHA:1118
- Ectrodactyly-polydactyly syndrome ORPHA:1892
- Charlie M syndrome ORPHA:1406
- Gollop-Wolfgang complex ORPHA:1986
- Patterson-Stevenson-Fontaine syndrome ORPHA:2439
- EEC syndrome ORPHA:1896
- ADULT syndrome ORPHA:978
- Hartsfield syndrome ORPHA:2117
- Isolated split hand-split foot malformation ORPHA:2440
- Tibial aplasia-ectrodactyly syndrome ORPHA:3329
- Camptodactyly syndrome, Guadalajara type 3 ORPHA:488434
- Non-immune hydrops fetalis ORPHA:363999
- Rare genetic gynecological and obstetrical diseases ORPHA:183731
- Hereditary breast and/or ovarian cancer syndrome ORPHA:145
- Ovarian hyperstimulation syndrome ORPHA:64739
- Müllerian aplasia ORPHA:73217
- Partial bilateral aplasia of the Müllerian ducts ORPHA:180068
- Mayer-Rokitansky-Küster-Hauser syndrome ORPHA:3109
- Mayer-Rokitansky-Küster-Hauser syndrome type 2 ORPHA:2578
- Mayer-Rokitansky-Küster-Hauser syndrome type 1 ORPHA:247775
- Müllerian aplasia and hyperandrogenism ORPHA:247768
- Unilateral aplasia of the Müllerian ducts ORPHA:180071
- Isolated congenital breast hypoplasia/aplasia ORPHA:180188
- Anomaly of puberty or/and menstrual cycle of genetic origin ORPHA:202940
- Estrogen resistance syndrome ORPHA:785
- Rare genetic premature ovarian failure ORPHA:485382
- Turner syndrome ORPHA:881
- Monosomy X syndrome ORPHA:99226
- Mosaic monosomy X syndrome ORPHA:99228
- Turner syndrome due to structural X chromosome anomalies ORPHA:99413
- Ataxia-telangiectasia ORPHA:100
- Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 ORPHA:572354
- Tetrasomy X syndrome ORPHA:9
- 46,XX gonadal dysgenesis ORPHA:243
- Trisomy X syndrome ORPHA:3375
- Perrault syndrome ORPHA:2855
- Aromatase deficiency ORPHA:91
- Osteosclerosis-ichthyosis-premature ovarian failure syndrome ORPHA:75325
- Classic galactosemia ORPHA:79239
- Congenital lipoid adrenal hyperplasia due to STAR deficency ORPHA:90790
- Classic congenital lipoid adrenal hyperplasia due to STAR deficency ORPHA:325524
- Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency ORPHA:325529
- Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency ORPHA:90793
- X small rings syndrome ORPHA:96201
- Microcephalic primordial dwarfism-insulin resistance syndrome ORPHA:436182
- 46,XX ovarian dysgenesis-short stature syndrome ORPHA:444048
- Fragile X-associated primary ovarian insufficiency ORPHA:642691
- Hyperandrogenism due to cortisone reductase deficiency ORPHA:168588
- Congenital hypogonadotropic hypogonadism ORPHA:174590
- Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism ORPHA:181387
- CHARGE syndrome ORPHA:138
- Prader-Willi syndrome ORPHA:739
- Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 ORPHA:98754
- Prader-Willi syndrome due to paternal 15q11q13 deletion ORPHA:98793
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 ORPHA:177901
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 ORPHA:177904
- Prader-Willi syndrome due to translocation ORPHA:177907
- Prader-Willi syndrome due to imprinting mutation ORPHA:177910
- Laurence-Moon syndrome ORPHA:2377
- Cerebellar ataxia-hypogonadism syndrome ORPHA:1173
- Ataxia-hypogonadism-choroidal dystrophy syndrome ORPHA:1180
- Cataract-intellectual disability-hypogonadism syndrome ORPHA:1387
- Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome ORPHA:2230
- Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome ORPHA:2235
- Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome ORPHA:2250
- Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome ORPHA:2560
- Woodhouse-Sakati syndrome ORPHA:3464
- Kallmann syndrome-heart disease syndrome ORPHA:2326
- Bardet-Biedl syndrome ORPHA:110
- Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome ORPHA:88637
- ANE syndrome ORPHA:157954
- Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome ORPHA:293967
- Prader-Willi-like syndrome ORPHA:398073
- CPE-related Prader-Willi-like syndrome ORPHA:633028
- 6q16 microdeletion syndrome ORPHA:171829
- SIM1-related Prader-Willi-like syndrome ORPHA:398079
- Schaaf-Yang syndrome ORPHA:398069
- Brachytelephalangy-dysmorphism-Kallmann syndrome ORPHA:1295
- Polyendocrine-polyneuropathy syndrome ORPHA:453533
- Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature ORPHA:181390
- Obesity due to congenital leptin deficiency ORPHA:66628
- Obesity due to prohormone convertase I deficiency ORPHA:71528
- Non-acquired panhypopituitarism ORPHA:90695
- Combined pituitary hormone deficiencies, genetic forms ORPHA:95494
- Familial adrenal hypoplasia with absent pituitary luteinizing hormone ORPHA:95700
- X-linked adrenal hypoplasia congenita ORPHA:95702
- Obesity due to leptin receptor gene deficiency ORPHA:179494
- Isolated congenital hypogonadotropic hypogonadism ORPHA:238666
- Isolated follicle stimulating hormone deficiency ORPHA:52901
- Genetic precocious puberty in female ORPHA:435564
- Mammary-digital-nail syndrome ORPHA:238744
- Genetic difference of sex development of gynecological interest ORPHA:325665
- 46,XX difference of sex development induced by fetal androgens excess ORPHA:90776
- Generalized glucocorticoid resistance syndrome ORPHA:786
- Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency ORPHA:90791
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ORPHA:90794
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form ORPHA:315306
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form ORPHA:315311
- Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency ORPHA:90795
- Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency ORPHA:95699
- Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis ORPHA:63269
- Gonadal dysgenesis of gynecological interest ORPHA:98074
- 46,XX gonadal dysgenesis ORPHA:243
- 46,XY complete gonadal dysgenesis ORPHA:242
- 45,X/46,XY mixed gonadal dysgenesis ORPHA:1772
- 46,XX ovotesticular difference of sex development ORPHA:2138
- 46,XY partial gonadal dysgenesis ORPHA:251510
- 46,XY ovotesticular difference of sex development ORPHA:325345
- 46,XX ovarian dysgenesis-short stature syndrome ORPHA:444048
- 46,XX difference of sex development induced by fetoplacental androgens excess ORPHA:325061
- 46,XY difference of sex development of gynecological interest ORPHA:325632
- Androgen insensitivity syndrome ORPHA:754
- Partial androgen insensitivity syndrome ORPHA:90797
- Complete androgen insensitivity syndrome ORPHA:99429
- 46,XY difference of sex development due to adrenal and testicular steroidogenesis defect ORPHA:90786
- Congenital lipoid adrenal hyperplasia due to STAR deficency ORPHA:90790
- Classic congenital lipoid adrenal hyperplasia due to STAR deficency ORPHA:325524
- Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency ORPHA:325529
- Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency ORPHA:90791
- Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency ORPHA:90793
- Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency ORPHA:95699
- 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency ORPHA:168558
- Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis ORPHA:63269
- 46,XY difference of sex development due to testicular steroidogenesis defect ORPHA:90787
- 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency ORPHA:752
- 46,XY difference of sex development due to isolated 17,20-lyase deficiency ORPHA:90796
- 46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue ORPHA:98086
- Syndrome with difference of sex development of gynecological interest ORPHA:325638
- Turner syndrome ORPHA:881
- Monosomy X syndrome ORPHA:99226
- Mosaic monosomy X syndrome ORPHA:99228
- Turner syndrome due to structural X chromosome anomalies ORPHA:99413
- WAGR syndrome ORPHA:893
- Distal deletion 9p syndrome ORPHA:1642
- XY type gonadal dysgenesis-associated anomalies syndrome ORPHA:1770
- Difference of sex development-intellectual disability syndrome ORPHA:2983
- Chondrodysplasia-difference of sex development syndrome ORPHA:1422
- X-linked alpha-thalassemia-intellectual disability syndrome ORPHA:847
- Campomelic dysplasia ORPHA:140
- PAGOD syndrome ORPHA:991
- Dysmorphism-short stature-deafness-difference of sex development syndrome ORPHA:2282
- Perrault syndrome ORPHA:2855
- 46,XX difference of sex development-skeletal anomalies syndrome ORPHA:2975
- Meacham syndrome ORPHA:3097
- Denys-Drash syndrome ORPHA:220
- Frasier syndrome ORPHA:347
- Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome ORPHA:85112
- Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome ORPHA:137631
- 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome ORPHA:168563
- Tetragametic chimerism syndrome ORPHA:199310
- Müllerian aplasia and hyperandrogenism ORPHA:247768
- Rare genetic immune disease ORPHA:183770
- Primary immunodeficiency ORPHA:101997
- Primary immunodeficiency due to a defect in innate immunity ORPHA:101988
- Quantitative and/or qualitative congenital phagocyte defect ORPHA:101985
- Congenital neutropenia ORPHA:101987
- Cyclic neutropenia ORPHA:2686
- Severe congenital neutropenia ORPHA:42738
- Autosomal dominant severe congenital neutropenia ORPHA:486
- X-linked severe congenital neutropenia ORPHA:86788
- Autosomal recessive severe congenital neutropenia ORPHA:439849
- Kostmann syndrome ORPHA:99749
- Severe congenital neutropenia due to G6PC3 deficiency ORPHA:331176
- Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency ORPHA:420699
- Autosomal recessive severe congenital neutropenia due to CSF3R deficiency ORPHA:420702
- Severe congenital neutropenia due to JAGN1 deficiency ORPHA:423384
- Syndrome with congenital neutropenia as a major feature ORPHA:331184
- 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome ORPHA:445038
- Severe congenital neutropenia due to JAGN1 deficiency ORPHA:423384
- Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency ORPHA:675767
- TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome ORPHA:675628
- Periodic fever-immunodeficiency-thrombocytopenia syndrome ORPHA:652522
- Cohen syndrome ORPHA:193
- Barth syndrome ORPHA:111
- Lichtenstein syndrome ORPHA:2390
- Neutropenia-monocytopenia-deafness syndrome ORPHA:2690
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib ORPHA:79259
- Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency ORPHA:90023
- Hermansky-Pudlak syndrome due to AP-3 deficiency ORPHA:183678
- Hermansky-Pudlak syndrome due to AP3B1 deficiency ORPHA:664500
- Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency ORPHA:664511
- Poikiloderma with neutropenia ORPHA:221046
- Congenital neutropenia-myelofibrosis-nephromegaly syndrome ORPHA:369852
- Severe congenital neutropenia due to G6PC3 deficiency ORPHA:331176
- Shwachman-Diamond syndrome ORPHA:811
- Recurrent infections due to specific granule deficiency ORPHA:169142
- Congenital functional phagocyte defect ORPHA:183681
- Non-syndromic congenital phagocyte functional defect ORPHA:674896
- GATA2 deficiency spectrum ORPHA:228423
- Hereditary pulmonary alveolar proteinosis ORPHA:264675
- Chronic granulomatous disease ORPHA:379
- Infantile LAD-like disease due to RAC2 deficiency ORPHA:183707
- Myeloperoxidase deficiency ORPHA:2587
- Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency ORPHA:619941
- Syndrome with congenital phagocyte functional defect as a major feature ORPHA:674648
- Leukocyte adhesion deficiency ORPHA:2968
- Leukocyte adhesion deficiency type I ORPHA:99842
- Leukocyte adhesion deficiency type II ORPHA:99843
- Leukocyte adhesion deficiency type III ORPHA:99844
- Aggressive periodontitis ORPHA:447740
- Actinomyopathy-associated syndromic thrombocytopenia ORPHA:674653
- Papillon-Lefèvre syndrome ORPHA:678
- Immunodeficiency due to a complement cascade protein anomaly ORPHA:101992
- Immunodeficiency due to a complement cascade component deficiency ORPHA:459345
- Immunodeficiency due to MASP-2 deficiency ORPHA:331187
- Immunodeficiency due to ficolin3 deficiency ORPHA:331190
- Immunodeficiency due to a classical component pathway complement deficiency ORPHA:169147
- Complement component 3 deficiency ORPHA:280133
- Immunodeficiency due to a late component of complement deficiency ORPHA:169150
- Immunodeficiency due to a complement regulatory deficiency ORPHA:459348
- Genetic susceptibility to infections due to particular pathogens ORPHA:183710
- WHIM syndrome ORPHA:51636
- Inherited epidermodysplasia verruciformis ORPHA:302
- T-cell immunodeficiency with epidermodysplasia verruciformis ORPHA:324294
- Chronic mucocutaneous candidiasis ORPHA:1334
- Herpes simplex virus encephalitis ORPHA:1930
- Mendelian susceptibility to mycobacterial diseases ORPHA:748
- Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency ORPHA:319535
- Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency ORPHA:99898
- Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency ORPHA:319547
- Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ORPHA:319552
- Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ORPHA:319558
- Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ORPHA:319563
- Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ORPHA:477857
- IFNG-responsive severe mendelian susceptibility to mycobacterial diseases ORPHA:686447
- Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency ORPHA:319539
- Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency ORPHA:319569
- Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency ORPHA:319574
- Susceptibility to infection due to TYK2 deficiency ORPHA:331226
- Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency ORPHA:574957
- Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency ORPHA:319543
- Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency ORPHA:319581
- Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency ORPHA:319589
- Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency ORPHA:319595
- Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency ORPHA:319600
- X-linked mendelian susceptibility to mycobacterial diseases ORPHA:319605
- Transient predisposition to invasive pyogenic bacterial infection ORPHA:70592
- Susceptibility to viral and mycobacterial infections due to STAT1 deficiency ORPHA:391311
- Whipple disease ORPHA:3452
- Predisposition to invasive fungal disease due to CARD9 deficiency ORPHA:457088
- STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome ORPHA:391487
- Autoinflammatory syndrome with immune deficiency ORPHA:290839
- Familial Mediterranean fever ORPHA:342
- Cherubism ORPHA:184
- Hyperimmunoglobulinemia D with periodic fever ORPHA:343
- Tumor necrosis factor receptor 1 associated periodic syndrome ORPHA:32960
- Majeed syndrome ORPHA:77297
- Blau syndrome ORPHA:90340
- NLRP3-associated autoinflammatory disease ORPHA:208650
- Muckle-Wells syndrome ORPHA:575
- CINCA syndrome ORPHA:1451
- Familial cold urticaria ORPHA:47045
- Keratitis fugax hereditaria ORPHA:647815
- Sterile multifocal osteomyelitis with periostitis and pustulosis ORPHA:210115
- Neonatal inflammatory skin and bowel disease ORPHA:294023
- PLCG2-associated antibody deficiency and immune dysregulation ORPHA:300359
- X-linked reticulate pigmentary disorder ORPHA:85453
- DITRA ORPHA:404546
- Periodic fever-immunodeficiency-thrombocytopenia syndrome ORPHA:652522
- Familial hyperinflammatory lymphoproliferative immunodeficiency ORPHA:619953
- Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia ORPHA:572428
- SAMD9L-associated autoinflammatory syndrome ORPHA:619367
- CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome ORPHA:566067
- Early-onset autoinflammatory syndrome due to A20 haploinsufficiency ORPHA:674762
- Other immunodeficiency syndromes due to defects in innate immunity ORPHA:331193
- Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome ORPHA:568056
- Familial isolated congenital asplenia ORPHA:101351
- Primary immunodeficiency with predisposition to severe viral infection ORPHA:431156
- Primary immunodeficiency due to a defect in adaptive immunity ORPHA:179006
- T-cell immunodeficiency with thymic aplasia ORPHA:83471
- Combined T and B cell immunodeficiency ORPHA:101972
- Severe combined immunodeficiency ORPHA:183660
- T-B+ severe combined immunodeficiency ORPHA:317416
- Severe combined immunodeficiency due to LAT deficiency ORPHA:504523
- T-B+ severe combined immunodeficiency due to gamma chain deficiency ORPHA:276
- T-B+ severe combined immunodeficiency due to JAK3 deficiency ORPHA:35078
- Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome ORPHA:137631
- T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency ORPHA:169154
- T-B+ severe combined immunodeficiency due to CD45 deficiency ORPHA:169157
- T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta ORPHA:169160
- Severe combined immunodeficiency due to CORO1A deficiency ORPHA:228003
- Severe combined immunodeficiency due to FOXN1 deficiency ORPHA:169095
- T-B- severe combined immunodeficiency ORPHA:317419
- Severe combined immunodeficiency due to DCLRE1C deficiency ORPHA:275
- Short-limb skeletal dysplasia with severe combined immunodeficiency ORPHA:935
- Severe combined immunodeficiency due to adenosine deaminase deficiency ORPHA:277
- Reticular dysgenesis ORPHA:33355
- Severe combined immunodeficiency due to LCK deficiency ORPHA:280142
- Severe combined immunodeficiency due to DNA-PKcs deficiency ORPHA:317425
- Severe combined immunodeficiency due to complete RAG1/2 deficiency ORPHA:331206
- Reticular dysgenesis-like severe combined immunodeficiency ORPHA:688543
- T+ B+ severe combined immunodeficiency ORPHA:397802
- Non-severe combined immunodeficiency ORPHA:480549
- T-cell immunodeficiency with epidermodysplasia verruciformis ORPHA:324294
- NIK deficiency ORPHA:447731
- Combined immunodeficiency due to CD27 deficiency ORPHA:238505
- Purine nucleoside phosphorylase deficiency ORPHA:760
- Immunodeficiency by defective expression of MHC class II ORPHA:572
- Combined immunodeficiency due to ZAP70 deficiency ORPHA:911
- Immunodeficiency by defective expression of MHC class I ORPHA:34592
- Omenn syndrome ORPHA:39041
- LIG4 syndrome ORPHA:99812
- Combined immunodeficiency with granulomatosis ORPHA:157949
- Cernunnos-XLF deficiency ORPHA:169079
- Combined immunodeficiency due to CD3gamma deficiency ORPHA:169082
- Susceptibility to respiratory infections associated with CD8alpha chain mutation ORPHA:169085
- Combined immunodeficiency due to DOCK8 deficiency ORPHA:217390
- Idiopathic CD4 lymphocytopenia ORPHA:228000
- Combined immunodeficiency due to partial RAG1 deficiency ORPHA:231154
- Combined immunodeficiency due to STK4 deficiency ORPHA:314689
- XMEN ORPHA:317476
- TCR-alpha-beta-positive T-cell deficiency ORPHA:397959
- BENTA disease ORPHA:464336
- IL21-related infantile inflammatory bowel disease ORPHA:477661
- Combined immunodeficiency due to OX40 deficiency ORPHA:431149
- X-linked combined immunodeficiency due to SASH3 deficiency ORPHA:653751
- Combined immunodeficiency due to FOXN1 haploinsufficiency ORPHA:676039
- Combined immunodeficiency due to FCHO1 deficiency ORPHA:647804
- Combined immunodeficiency with low immunoglobulins ORPHA:688571
- RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome ORPHA:692812
- Combined immunodeficiency due to IKK2 deficiency ORPHA:397787
- Hyper-IgM syndrome with susceptibility to opportunistic infections ORPHA:183663
- Combined immunodeficiency due to DOCK2 deficiency ORPHA:447737
- Combined immunodeficiency due to CARD11 deficiency ORPHA:357237
- Combined immunodeficiency due to TFRC deficiency ORPHA:476113
- Combined immunodeficiency due to IL21R deficiency ORPHA:357329
- Combined immunodeficiency with normal Ig and poor specific antibody response ORPHA:688563
- Combined immunodeficiency due to MALT1 deficiency ORPHA:397964
- Combined immunodeficiency due to RELB deficiency ORPHA:688594
- Combined immunodeficiency due to Moesin deficiency ORPHA:504530
- Combined immunodeficiency due to CD70 deficiency ORPHA:538958
- Combined immunodeficiency due to CARMIL2 deficiency ORPHA:542301
- Combined immunodeficiency due to ITK deficiency ORPHA:538963
- Combined immunodeficiency due to LRBA deficiency ORPHA:445018
- Combined immunodeficiency due to RELA haploinsufficiency ORPHA:596759
- Immunodeficiency predominantly affecting antibody production ORPHA:101977
- Common variable immunodeficiency ORPHA:1572
- Transient hypogammaglobulinemia of infancy ORPHA:169139
- Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells ORPHA:169443
- Agammaglobulinemia ORPHA:183669
- Non-syndromic agammaglobulinemia ORPHA:229717
- Syndromic agammaglobulinemia ORPHA:229720
- Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia ORPHA:632
- Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome ORPHA:83617
- B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome ORPHA:567502
- Activated PI3K-delta syndrome ORPHA:397596
- Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells ORPHA:331232
- X-linked immunoneurologic disorder ORPHA:2571
- Immunoglobulin heavy chain deficiency ORPHA:169110
- Recurrent infections associated with rare immunoglobulin isotypes deficiency ORPHA:183675
- Selective IgM deficiency ORPHA:331235
- Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells ORPHA:331240
- Hyper-IgM syndrome without susceptibility to opportunistic infections ORPHA:183666
- Hyper-IgM syndrome type 2 ORPHA:101089
- Hyper-IgM syndrome type 4 ORPHA:101091
- Hyper-IgM syndrome type 5 ORPHA:101092
- Constitutional mismatch repair deficiency syndrome ORPHA:252202
- Other immunodeficiency syndrome with predominantly antibody defects ORPHA:331244
- Alopecia antibody deficiency ORPHA:1006
- Say-Barber-Miller syndrome ORPHA:3132
- Osteopetrosis-hypogammaglobulinemia syndrome ORPHA:178389
- Deficiency in anterior pituitary function-variable immunodeficiency syndrome ORPHA:293978
- Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ORPHA:369861
- ATP6AP1-CDG ORPHA:692790
- Immune dysregulation disease with immunodeficiency ORPHA:169361
- Primary hemophagocytic lymphohistiocytosis ORPHA:158038
- Primary hemophagocytic lymphohistiocytosis with hypopigmentation ORPHA:331249
- Chédiak-Higashi syndrome ORPHA:167
- Griscelli syndrome type 2 ORPHA:79477
- Hermansky-Pudlak syndrome due to AP-3 deficiency ORPHA:183678
- Primary hemophagocytic lymphohistiocytosis without hypopigmentation ORPHA:664482
- Immunodeficiency syndrome with autoimmunity ORPHA:169355
- Autoimmune polyendocrinopathy type 1 ORPHA:3453
- Autoimmune lymphoproliferative syndrome ORPHA:3261
- Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ORPHA:37042
- Immunodeficiency due to CD25 deficiency ORPHA:169100
- Syndromic multisystem autoimmune disease due to Itch deficiency ORPHA:228426
- RAS-associated autoimmune leukoproliferative disease ORPHA:268114
- Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency ORPHA:275517
- FADD-related immunodeficiency ORPHA:306550
- STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome ORPHA:391487
- Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency ORPHA:444463
- Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency ORPHA:619948
- Combined immunodeficiency due to RELB deficiency ORPHA:688594
- Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency ORPHA:658946
- Dianzani autoimmune lymphoproliferative disease ORPHA:275523
- Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency ORPHA:436159
- STAT3-related early-onset multisystem autoimmune disease ORPHA:438159
- Immune dysregulation with inflammatory bowel disease ORPHA:529974
- Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome ORPHA:238569
- Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome ORPHA:529977
- Infantile inflammatory bowel disease with neurological involvement ORPHA:565788
- Inflammatory bowel disease-recurrent sinopulmonary infections syndrome ORPHA:529980
- X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency ORPHA:676125
- Early-onset immune dysregulation due to DOCK11 complete deficiency ORPHA:658951
- Immune dysregulation disease with immunodeficiency associated with EBV susceptibility ORPHA:664456
- Severe combined immunodeficiency due to CTPS1 deficiency ORPHA:420573
- Combined immunodeficiency due to CARMIL2 deficiency ORPHA:542301
- XMEN ORPHA:317476
- EBV-induced lymphoproliferative disease due to PRKCD deficiency ORPHA:664711
- Combined immunodeficiency due to ITK deficiency ORPHA:538963
- EBV-induced lymphoproliferative disease due to RASGRP1 deficiency ORPHA:664699
- Combined immunodeficiency due to CD70 deficiency ORPHA:538958
- EBV-induced lymphoproliferative disease due to CD137 deficiency ORPHA:664726
- EBV-induced lymphoproliferative disease due to TET2 deficiency ORPHA:664729
- EBV susceptibility with hemophagocytic lymphohistiocytosis as a major feature ORPHA:664734
- Syndrome with combined immunodeficiency ORPHA:331217
- Wiskott-Aldrich syndrome ORPHA:906
- Dyskeratosis congenita ORPHA:1775
- Vici syndrome ORPHA:1493
- Transcobalamin deficiency ORPHA:859
- Hennekam syndrome ORPHA:2136
- Absent thumb-short stature-immunodeficiency syndrome ORPHA:2951
- Hoyeraal-Hreidarsson syndrome ORPHA:3322
- Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome ORPHA:69088
- Hepatic veno-occlusive disease-immunodeficiency syndrome ORPHA:79124
- Hereditary folate malabsorption ORPHA:90045
- Hypohidrotic ectodermal dysplasia with immunodeficiency ORPHA:98813
- Combined immunodeficiency due to CRAC channel dysfunction ORPHA:169090
- Combined immunodeficiency due to ORAI1 deficiency ORPHA:317428
- Combined immunodeficiency due to STIM1 deficiency ORPHA:317430
- Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ORPHA:477814
- DNA repair defect other than combined T-cell and B-cell immunodeficiencies ORPHA:169346
- Combined immunodeficiency due to GINS1 deficiency ORPHA:505227
- Ataxia-telangiectasia ORPHA:100
- Bloom syndrome ORPHA:125
- ICF syndrome ORPHA:2268
- Nijmegen breakage syndrome ORPHA:647
- Nijmegen breakage syndrome-like disorder ORPHA:240760
- RIDDLE syndrome ORPHA:420741
- Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency ORPHA:75391
- Immuno-osseous dysplasia ORPHA:169349
- Combined immunodeficiency with facio-oculo-skeletal anomalies ORPHA:221139
- Schimke immuno-osseous dysplasia ORPHA:1830
- Cartilage-hair hypoplasia ORPHA:175
- Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome ORPHA:508533
- Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome ORPHA:508542
- Roifman syndrome ORPHA:353298
- Laron syndrome with immunodeficiency ORPHA:220465
- Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency ORPHA:317473
- Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis ORPHA:329173
- Syndome with combined immunodeficiency due to thymic defect ORPHA:331220
- Severe combined immunodeficiency due to FOXN1 deficiency ORPHA:169095
- 10p13-p14 deletion syndrome ORPHA:687695
- Combined immunodeficiency due to TBX1 deficiency ORPHA:685017
- CHARGE syndrome ORPHA:138
- 22q11.2 deletion syndrome ORPHA:567
- Jacobsen syndrome ORPHA:2308
- Hyper-IgE syndrome ORPHA:331223
- Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency ORPHA:2314
- Netherton syndrome ORPHA:634
- PGM3-CDG ORPHA:443811
- Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency ORPHA:641368
- Autosomal dominant combined immunodeficiency due to ERBIN deficiency ORPHA:656912
- Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency ORPHA:656313
- Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency ORPHA:656300
- Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency ORPHA:656283
- Autosomal recessive combined immunodeficiency due to IL6R deficiency ORPHA:656326
- Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome ORPHA:662829
- CADINS disease ORPHA:619972
- Facial dysmorphism-immunodeficiency-livedo-short stature syndrome ORPHA:352712
- Combined immunodeficiency-multiple intestinal atresia ORPHA:436252
- Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency ORPHA:661412
- Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome ORPHA:619979
- Hereditary neutrophilia ORPHA:279943
- Rare genetic vascular disease ORPHA:233655
- Familial abdominal aortic aneurysm ORPHA:86
- Sneddon syndrome ORPHA:820
- Generalized arterial calcification of infancy ORPHA:51608
- Rare disease with thoracic aortic aneurysm and aortic dissection ORPHA:285014
- X-linked severe syndromic thoracic aortic aneurysm and dissection ORPHA:622925
- Marfan syndrome ORPHA:558
- Arterial tortuosity syndrome ORPHA:3342
- Familial aortic dissection ORPHA:229
- Vascular Ehlers-Danlos syndrome ORPHA:286
- Loeys-Dietz syndrome ORPHA:60030
- Familial thoracic aortic aneurysm and aortic dissection ORPHA:91387
- Neonatal Marfan syndrome ORPHA:284979
- Aneurysm-osteoarthritis syndrome ORPHA:284984
- Familial bicuspid aortic valve ORPHA:402075
- Multisystemic smooth muscle dysfunction syndrome ORPHA:404463
- Hereditary arterial and articular multiple calcification syndrome ORPHA:289601
- Deficiency of adenosine deaminase 2 ORPHA:404553
- STING-associated vasculopathy with onset in infancy ORPHA:425120
- Lethal arteriopathy syndrome due to fibulin-4 deficiency ORPHA:314718
- Autosomal recessive cutis laxa type 1 ORPHA:90349
- Rare genetic systemic or rheumatologic disease ORPHA:271870
- Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome ORPHA:529977
- Familial calcium pyrophosphate deposition ORPHA:1416
- Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome ORPHA:2848
- Hypoplasminogenemia ORPHA:722
- LAMA5-related multisystemic syndrome ORPHA:521450
- Progeroid and marfanoid aspect-lipodystrophy syndrome ORPHA:300382
- Intermittent hydrarthrosis ORPHA:329967
- Hereditary amyloidosis ORPHA:444116
- AGel amyloidosis ORPHA:85448
- Hereditary amyloidosis with primary renal involvement ORPHA:85450
- AApoAI amyloidosis ORPHA:93560
- ALys amyloidosis ORPHA:93561
- AFib amyloidosis ORPHA:93562
- AApoAII amyloidosis ORPHA:238269
- Cerebral Amyloid Angiopathy ORPHA:85458
- ABeta amyloidosis, Dutch type ORPHA:100006
- ACys amyloidosis ORPHA:100008
- ABetaL34V amyloidosis ORPHA:324703
- ABeta amyloidosis, Iowa type ORPHA:324708
- ABeta amyloidosis, Italian type ORPHA:324713
- ABetaA21G amyloidosis ORPHA:324718
- ABeta amyloidosis, Arctic type ORPHA:324723
- Hereditary ATTR amyloidosis ORPHA:271861
- Variant ABeta2M amyloidosis ORPHA:314652
- ITM2B amyloidosis ORPHA:439254
- Autoimmune interstitial lung disease-arthritis syndrome ORPHA:444092
- Early-onset immune dysregulation due to DOCK11 complete deficiency ORPHA:658951
- Rare hereditary connective tissue disease ORPHA:619249
- Ehlers-Danlos syndrome ORPHA:98249
- Classical Ehlers-Danlos syndrome ORPHA:287
- Musculocontractural Ehlers-Danlos syndrome ORPHA:2953
- Hypermobile Ehlers-Danlos syndrome ORPHA:285
- Vascular Ehlers-Danlos syndrome ORPHA:286
- Kyphoscoliotic Ehlers-Danlos syndrome ORPHA:536545
- Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency ORPHA:1900
- Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency ORPHA:300179
- Arthrochalasia Ehlers-Danlos syndrome ORPHA:1899
- Dermatosparaxis Ehlers-Danlos syndrome ORPHA:1901
- Periodontal Ehlers-Danlos syndrome ORPHA:75392
- Spondylodysplastic Ehlers-Danlos syndrome ORPHA:536471
- B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome ORPHA:75496
- B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome ORPHA:536467
- SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome ORPHA:157965
- X-linked Ehlers-Danlos syndrome ORPHA:75497
- Brittle cornea syndrome ORPHA:90354
- Myopathic Ehlers-Danlos syndrome ORPHA:536516
- Classical-like Ehlers-Danlos syndrome type 1 ORPHA:230839
- Cardiac-valvular Ehlers-Danlos syndrome ORPHA:230851
- Classical-like Ehlers-Danlos syndrome type 2 ORPHA:536532
- Vascular Ehlers-Danlos-polymicrogyria syndrome ORPHA:636941
- Ehlers-Danlos/osteogenesis imperfecta syndrome ORPHA:230857
- Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome ORPHA:238569
- Marfan syndrome and Marfan-related disorders ORPHA:284993
- X-linked severe syndromic thoracic aortic aneurysm and dissection ORPHA:622925
- Marfan syndrome ORPHA:558
- Isolated ectopia lentis ORPHA:1885
- Congenital contractural arachnodactyly ORPHA:115
- Shprintzen-Goldberg syndrome ORPHA:2462
- Loeys-Dietz syndrome ORPHA:60030
- Familial thoracic aortic aneurysm and aortic dissection ORPHA:91387
- Neonatal Marfan syndrome ORPHA:284979
- Aneurysm-osteoarthritis syndrome ORPHA:284984
- Cutis laxa-Marfanoid syndrome ORPHA:171719
- Connective tissue disorder due to lysyl hydroxylase-3 deficiency ORPHA:300284
- Malignant atrophic papulosis ORPHA:679
- Familial articular hypermobility syndrome ORPHA:2295
- Rare hereditary autoinflammatory disease ORPHA:619238
- Hereditary periodic fever syndrome ORPHA:324924
- CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome ORPHA:566067
- Infantile-onset periodic fever-panniculitis-dermatosis syndrome ORPHA:500062
- Familial Mediterranean fever ORPHA:342
- Tumor necrosis factor receptor 1 associated periodic syndrome ORPHA:32960
- NLRP3-associated autoinflammatory disease ORPHA:208650
- Muckle-Wells syndrome ORPHA:575
- CINCA syndrome ORPHA:1451
- Familial cold urticaria ORPHA:47045
- Keratitis fugax hereditaria ORPHA:647815
- NLRP12-associated hereditary periodic fever syndrome ORPHA:247868
- Mevalonate kinase deficiency ORPHA:309025
- Periodic fever-infantile enterocolitis-autoinflammatory syndrome ORPHA:436166
- NLRC4-related familial cold autoinflammatory syndrome ORPHA:576349
- Periodic fever-immunodeficiency-thrombocytopenia syndrome ORPHA:652522
- F12-associated cold autoinflammatory syndrome ORPHA:617919
- DITRA ORPHA:404546
- Genetic autoinflammatory syndrome with acne and/or hidradenitis suppurativa ORPHA:652510
- Early-onset autoinflammatory syndrome due to A20 haploinsufficiency ORPHA:674762
- Majeed syndrome ORPHA:77297
- Sterile multifocal osteomyelitis with periostitis and pustulosis ORPHA:210115
- Hyperzincemia and hypercalprotectinemia ORPHA:251523
- Blau syndrome ORPHA:90340
- Cherubism ORPHA:184
- Type 1 interferonopathy ORPHA:477647
- Aicardi-Goutières syndrome ORPHA:51
- Spondyloenchondrodysplasia ORPHA:1855
- Syndromic diarrhea ORPHA:84064
- Singleton-Merten dysplasia ORPHA:85191
- X-linked reticulate pigmentary disorder ORPHA:85453
- Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ORPHA:247691
- Autosomal systemic lupus erythematosus ORPHA:300345
- Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ORPHA:319563
- Proteasome-associated autoinflammatory syndrome ORPHA:324977
- Deficiency of adenosine deaminase 2 ORPHA:404553
- STING-associated vasculopathy with onset in infancy ORPHA:425120
- Familial Chilblain lupus ORPHA:481662
- USP18 deficiency ORPHA:481665
- SAMD9L-associated autoinflammatory syndrome ORPHA:619367
- Mixed autoinflammatory and autoimmune syndrome ORPHA:324933
- Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency ORPHA:619948
- Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency ORPHA:658946
- Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation ORPHA:324530
- Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis ORPHA:329173
- PLCG2-associated antibody deficiency and immune dysregulation ORPHA:300359
- Sweet syndrome ORPHA:3243
- NOCARH syndrome ORPHA:619363
- Neonatal inflammatory skin and bowel disease ORPHA:294023
- Genetic infertility ORPHA:275742
- Rare genetic male infertility ORPHA:399980
- Male infertility due to gonadal dysgenesis or sperm disorder ORPHA:399764
- Male infertility due to gonadal dysgenesis ORPHA:98313
- Testicular regression syndrome ORPHA:983
- 45,X/46,XY mixed gonadal dysgenesis ORPHA:1772
- 46,XX testicular difference of sex development ORPHA:393
- 48,XXXY syndrome ORPHA:96263
- 49,XXXXY syndrome ORPHA:96264
- 48,XYYY syndrome ORPHA:99329
- 46,XY partial gonadal dysgenesis ORPHA:251510
- Testicular agenesis ORPHA:325124
- Male infertility due to sperm disorder ORPHA:399771
- Trichothiodystrophy ORPHA:33364
- Male infertility with spermatogenesis disorder ORPHA:399775
- Chromosome Y microdeletion syndrome ORPHA:1646
- Male infertility with spermatogenesis disorder due to single gene mutation ORPHA:399786
- Male infertility due to sperm motility disorder ORPHA:399813
- Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin ORPHA:399983
- Aromatase deficiency ORPHA:91
- Congenital hypogonadotropic hypogonadism ORPHA:174590
- Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism ORPHA:181387
- CHARGE syndrome ORPHA:138
- Prader-Willi syndrome ORPHA:739
- Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 ORPHA:98754
- Prader-Willi syndrome due to paternal 15q11q13 deletion ORPHA:98793
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 ORPHA:177901
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 ORPHA:177904
- Prader-Willi syndrome due to translocation ORPHA:177907
- Prader-Willi syndrome due to imprinting mutation ORPHA:177910
- Laurence-Moon syndrome ORPHA:2377
- Cerebellar ataxia-hypogonadism syndrome ORPHA:1173
- Ataxia-hypogonadism-choroidal dystrophy syndrome ORPHA:1180
- Cataract-intellectual disability-hypogonadism syndrome ORPHA:1387
- Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome ORPHA:2230
- Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome ORPHA:2235
- Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome ORPHA:2250
- Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome ORPHA:2560
- Woodhouse-Sakati syndrome ORPHA:3464
- Kallmann syndrome-heart disease syndrome ORPHA:2326
- Bardet-Biedl syndrome ORPHA:110
- Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome ORPHA:88637
- ANE syndrome ORPHA:157954
- Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome ORPHA:293967
- Prader-Willi-like syndrome ORPHA:398073
- CPE-related Prader-Willi-like syndrome ORPHA:633028
- 6q16 microdeletion syndrome ORPHA:171829
- SIM1-related Prader-Willi-like syndrome ORPHA:398079
- Schaaf-Yang syndrome ORPHA:398069
- Brachytelephalangy-dysmorphism-Kallmann syndrome ORPHA:1295
- Polyendocrine-polyneuropathy syndrome ORPHA:453533
- Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature ORPHA:181390
- Obesity due to congenital leptin deficiency ORPHA:66628
- Obesity due to prohormone convertase I deficiency ORPHA:71528
- Non-acquired panhypopituitarism ORPHA:90695
- Combined pituitary hormone deficiencies, genetic forms ORPHA:95494
- Familial adrenal hypoplasia with absent pituitary luteinizing hormone ORPHA:95700
- X-linked adrenal hypoplasia congenita ORPHA:95702
- Obesity due to leptin receptor gene deficiency ORPHA:179494
- Isolated congenital hypogonadotropic hypogonadism ORPHA:238666
- Isolated follicle stimulating hormone deficiency ORPHA:52901
- Familial hyperprolactinemia ORPHA:397685
- Rare male infertility due to testicular endocrine disorder ORPHA:399685
- Kennedy disease ORPHA:481
- 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency ORPHA:752
- 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency ORPHA:753
- Leydig cell hypoplasia ORPHA:755
- Leydig cell hypoplasia due to complete LH resistance ORPHA:96265
- Leydig cell hypoplasia due to partial LH resistance ORPHA:96266
- Leydig cell hypoplasia due to LHB deficiency ORPHA:325448
- Androgen insensitivity syndrome ORPHA:754
- Partial androgen insensitivity syndrome ORPHA:90797
- Complete androgen insensitivity syndrome ORPHA:99429
- Rare disorder with hypergonadotropic hypogonadism ORPHA:181441
- Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome ORPHA:3044
- Noonan syndrome ORPHA:648
- Hypogonadism-mitral valve prolapse-intellectual disability syndrome ORPHA:2233
- Proximal myotonic myopathy ORPHA:606
- X-linked adrenoleukodystrophy ORPHA:43
- Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome ORPHA:2229
- Primary hypergonadotropic hypogonadism-partial alopecia syndrome ORPHA:2232
- Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome ORPHA:2234
- Hypergonadotropic hypogonadism-cataract syndrome ORPHA:2410
- Mikati-Najjar-Sahli syndrome ORPHA:2558
- Woodhouse-Sakati syndrome ORPHA:3464
- Hydrocephalus-obesity-hypogonadism syndrome ORPHA:2183
- Deafness-hypogonadism syndrome ORPHA:90646
- X-linked intellectual disability, Cilliers type ORPHA:163971
- X-linked intellectual disability, Van Esch type ORPHA:163976
- Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome ORPHA:280679
- Rare male infertility due to adrenal disorder of genetic origin ORPHA:399994
- Cushing syndrome due to bilateral macronodular adrenocortical disease ORPHA:189427
- Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency ORPHA:90793
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ORPHA:90794
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form ORPHA:315306
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form ORPHA:315311
- Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency ORPHA:325529
- Male infertility due to obstructive azoospermia of genetic origin ORPHA:399998
- Rare genetic female infertility ORPHA:400008
- Rare female infertility due to gonadal dysgenesis ORPHA:399877
- 46,XX ovarian dysgenesis-short stature syndrome ORPHA:444048
- Turner syndrome ORPHA:881
- Monosomy X syndrome ORPHA:99226
- Mosaic monosomy X syndrome ORPHA:99228
- Turner syndrome due to structural X chromosome anomalies ORPHA:99413
- 46,XX gonadal dysgenesis ORPHA:243
- 46,XX ovotesticular difference of sex development ORPHA:2138
- Perrault syndrome ORPHA:2855
- 46,XY partial gonadal dysgenesis ORPHA:251510
- Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin ORPHA:400011
- Aromatase deficiency ORPHA:91
- Estrogen resistance syndrome ORPHA:785
- Isolated follicle stimulating hormone deficiency ORPHA:52901
- Familial hyperprolactinemia ORPHA:397685
- Rare female infertility due to a congenital hypogonadotropic hypogonadism ORPHA:399839
- Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature ORPHA:181390
- Obesity due to congenital leptin deficiency ORPHA:66628
- Obesity due to prohormone convertase I deficiency ORPHA:71528
- Non-acquired panhypopituitarism ORPHA:90695
- Combined pituitary hormone deficiencies, genetic forms ORPHA:95494
- Familial adrenal hypoplasia with absent pituitary luteinizing hormone ORPHA:95700
- X-linked adrenal hypoplasia congenita ORPHA:95702
- Obesity due to leptin receptor gene deficiency ORPHA:179494
- Isolated congenital hypogonadotropic hypogonadism ORPHA:238666
- Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism ORPHA:399846
- CHARGE syndrome ORPHA:138
- Prader-Willi syndrome ORPHA:739
- Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 ORPHA:98754
- Prader-Willi syndrome due to paternal 15q11q13 deletion ORPHA:98793
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 ORPHA:177901
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 ORPHA:177904
- Prader-Willi syndrome due to translocation ORPHA:177907
- Prader-Willi syndrome due to imprinting mutation ORPHA:177910
- Bardet-Biedl syndrome ORPHA:110
- Prader-Willi-like syndrome ORPHA:398073
- Rare female infertility due to adrenal disorder of genetic origin ORPHA:400018
- 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency ORPHA:752
- Congenital lipoid adrenal hyperplasia due to STAR deficency ORPHA:90790
- Classic congenital lipoid adrenal hyperplasia due to STAR deficency ORPHA:325524
- Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency ORPHA:325529
- Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency ORPHA:90793
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ORPHA:90794
- Rare female infertility due to an anomaly of ovarian function of genetic origin ORPHA:400022
- Trisomy X syndrome ORPHA:3375
- Insulin-resistance syndrome type A ORPHA:2297
- Osteosclerosis-ichthyosis-premature ovarian failure syndrome ORPHA:75325
- Classic galactosemia ORPHA:79239
- X small rings syndrome ORPHA:96201
- Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 ORPHA:572354
- Tetrasomy X syndrome ORPHA:9
- Female infertility due to an implantation defect of genetic origin ORPHA:400025
- Rare female infertility due to oocyte maturation defect ORPHA:404469
- Laminopathy ORPHA:98301
- Laminopathy with striated muscle involvement ORPHA:300755
- Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome ORPHA:2229
- Left ventricular noncompaction ORPHA:54260
- Autosomal dominant Emery-Dreifuss muscular dystrophy ORPHA:98853
- Autosomal recessive Emery-Dreifuss muscular dystrophy ORPHA:98855
- Congenital muscular dystrophy due to LMNA mutation ORPHA:157973
- Heart-hand syndrome, Slovenian type ORPHA:168796
- Inherited isolated arrhythmogenic cardiomyopathy ORPHA:217656
- Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant ORPHA:293888
- Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant ORPHA:293899
- Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant ORPHA:293910
- Familial dilated cardiomyopathy with conduction defect due to LMNA mutation ORPHA:300751
- Laminopathy with peripheral neuropathy ORPHA:300758
- Laminopathy with lipodystrophy ORPHA:300763
- Familial partial lipodystrophy, Dunnigan type ORPHA:2348
- Familial partial lipodystrophy, Köbberling type ORPHA:79084
- Mandibuloacral dysplasia with type A lipodystrophy ORPHA:90153
- Autosomal semi-dominant severe lipodystrophic laminopathy ORPHA:280365
- Laminopathy with premature aging ORPHA:300766
- Ciliopathy ORPHA:363250
- Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome ORPHA:314394
- Oral-facial-digital syndrome with short stature and brachymesophalangy ORPHA:508501
- Oculoskeletodental syndrome ORPHA:557003
- Greig cephalopolysyndactyly-contiguous gene syndrome ORPHA:658805
- Greig cephalopolysyndactyly syndrome ORPHA:380
- Hydrolethalus ORPHA:2189
- Birt-Hogg-Dubé syndrome ORPHA:122
- Complex lethal osteochondrodysplasia ORPHA:457378
- Carpenter syndrome ORPHA:65759
- Renal ciliopathy ORPHA:156162
- Adult familial nephronophthisis-spastic quadriparesia syndrome ORPHA:2666
- Autosomal recessive polycystic kidney disease ORPHA:731
- Oncogenic osteomalacia ORPHA:352540
- Von Hippel-Lindau disease ORPHA:892
- Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome ORPHA:444069
- Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome ORPHA:500135
- Stromme syndrome ORPHA:506307
- Meckel syndrome ORPHA:564
- Jeune syndrome ORPHA:474
- Ellis Van Creveld syndrome ORPHA:289
- Joubert syndrome with oculorenal defect ORPHA:2318
- Alström syndrome ORPHA:64
- Cranioectodermal dysplasia ORPHA:1515
- Senior-Loken syndrome ORPHA:3156
- Bardet-Biedl syndrome ORPHA:110
- Nephronophthisis ORPHA:655
- Late-onset nephronophthisis ORPHA:93589
- Infantile nephronophthisis ORPHA:93591
- Juvenile nephronophthisis ORPHA:93592
- Senior-Boichis syndrome ORPHA:84081
- Saldino-Mainzer syndrome ORPHA:140969
- RHYNS syndrome ORPHA:140976
- Renal-hepatic-pancreatic dysplasia ORPHA:294415
- Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome ORPHA:439897
- Oculocerebrorenal syndrome of Lowe ORPHA:534
- Joubert syndrome with hepatic defect ORPHA:1454
- Pallister-Hall syndrome ORPHA:672
- McKusick-Kaufman syndrome ORPHA:2473
- Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis ORPHA:88924
- MUC1-related autosomal dominant tubulointerstitial kidney disease ORPHA:88949
- UMOD-related autosomal dominant tubulointerstitial kidney disease ORPHA:88950
- Joubert syndrome with renal defect ORPHA:220497
- Tuberous sclerosis complex ORPHA:805
- Autosomal dominant polycystic kidney disease ORPHA:730
- Retinal ciliopathy ORPHA:156165
- Meckel syndrome ORPHA:564
- Jeune syndrome ORPHA:474
- Ellis Van Creveld syndrome ORPHA:289
- Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome ORPHA:3085
- Alström syndrome ORPHA:64
- Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene ORPHA:156168
- Retinal ciliopathy due to mutation in the RPGR gene ORPHA:156171
- Retinitis pigmentosa ORPHA:791
- Primary ciliary dyskinesia ORPHA:244
- Progressive cone dystrophy ORPHA:1871
- Cone rod dystrophy ORPHA:1872
- Retinal ciliopathy due to mutation in the RPGRIP gene ORPHA:156174
- Retinal ciliopathy due to mutation in Usher gene ORPHA:156177
- Retinal ciliopathy due to mutation in nephronophthisis gene ORPHA:156180
- NPHP3-related Meckel-like syndrome ORPHA:3032
- Senior-Loken syndrome ORPHA:3156
- Bardet-Biedl syndrome ORPHA:110
- Nephronophthisis ORPHA:655
- Late-onset nephronophthisis ORPHA:93589
- Infantile nephronophthisis ORPHA:93591
- Juvenile nephronophthisis ORPHA:93592
- Joubert syndrome with renal defect ORPHA:220497
- Renal-hepatic-pancreatic dysplasia ORPHA:294415
- Retinal ciliopathy due to mutation in Bardet-Biedl gene ORPHA:156183
- Laurence-Moon syndrome ORPHA:2377
- McKusick-Kaufman syndrome ORPHA:2473
- Bardet-Biedl syndrome ORPHA:110
- Stromme syndrome ORPHA:506307
- MORM syndrome ORPHA:75858
- Joubert syndrome with ocular defect ORPHA:220493
- Joubert syndrome with hepatic defect ORPHA:1454
- NEK9-related lethal skeletal dysplasia ORPHA:464366
- Serpinopathy ORPHA:250805
- Serpinopathy with toxic serpin polymerization ORPHA:250808
- Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation ORPHA:178396
- Alpha-1-antitrypsin deficiency ORPHA:60
- Familial encephalopathy with neuroserpin inclusion bodies ORPHA:85110
- Progressive dementia with neuroserpin inclusion bodies ORPHA:530303
- Progressive myoclonic epilepsy with neuroserpin inclusion bodies ORPHA:530298
- Congenital plasminogen activator inhibitor type 1 deficiency ORPHA:465
- Serpinopathy with loss of serpin function ORPHA:250811
- Hereditary thrombophilia due to congenital antithrombin deficiency ORPHA:82
- Hereditary angioedema with C1Inh deficiency ORPHA:528623
- Congenital alpha2-antiplasmin deficiency ORPHA:79
- Corticosteroid-binding globulin deficiency ORPHA:199247
- Exfoliative ichthyosis ORPHA:289586
- Palmoplantar keratoderma, Nagashima type ORPHA:140966