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- Rare endocrine disease ORPHA:97978
- Estrogen resistance syndrome ORPHA:785
- Neuroendocrine neoplasm ORPHA:877
- Carcinoid syndrome ORPHA:100093
- Gastroenteropancreatic neuroendocrine neoplasm ORPHA:100092
- Neuroendocrine neoplasm of pancreas ORPHA:506052
- Neuroendocrine tumor of pancreas ORPHA:97253
- Functioning neuroendocrine tumor of pancreas ORPHA:506060
- Zollinger-Ellison syndrome ORPHA:913
- GRFoma ORPHA:97261
- PPoma ORPHA:97278
- Insulinoma ORPHA:97279
- Glucagonoma ORPHA:97280
- VIPoma ORPHA:97282
- Somatostatinoma ORPHA:97283
- Cushing syndrome due to ectopic ACTH secretion ORPHA:99889
- Serotonin-producing neuroendocrine tumor of pancreas ORPHA:506090
- Non-functioning neuroendocrine tumor of pancreas ORPHA:506075
- Neuroendocrine carcinoma of pancreas ORPHA:506098
- Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas ORPHA:506112
- Gastroenteric neuroendocrine neoplasm ORPHA:481508
- Neuroendocrine tumor of stomach ORPHA:100075
- Neuroendocrine neoplasm of appendix ORPHA:100079
- Neuroendocrine tumor of the colon ORPHA:100080
- Neuroendocrine tumor of the rectum ORPHA:100081
- Neuroendocrine tumor of anal canal ORPHA:100082
- Neuroendocrine tumor of the small intestine ORPHA:423975
- Ileal neuroendocrine tumor ORPHA:100078
- Duodenal neuroendocrine tumor ORPHA:100076
- Jejunal neuroendocrine tumor ORPHA:100077
- Neuroendocrine neoplasm of esophagus ORPHA:506136
- Neuroendocrine tumor with other location ORPHA:100101
- Cutaneous neuroendocrine carcinoma ORPHA:79140
- Bronchial neuroendocrine tumor ORPHA:97287
- Laryngeal neuroendocrine tumor ORPHA:100083
- Middle ear neuroendocrine tumor ORPHA:100084
- Primary hepatic neuroendocrine carcinoma ORPHA:100085
- Gallbladder neuroendocrine tumor ORPHA:100086
- High-grade neuroendocrine carcinoma of the corpus uteri ORPHA:213731
- Thymic neuroendocrine tumor ORPHA:97289
- High-grade neuroendocrine carcinoma of the cervix uteri ORPHA:213777
- Thymic neuroendocrine carcinoma ORPHA:99869
- Well-differentiated thymic neuroendocrine carcinoma ORPHA:263331
- Moderately-differentiated thymic neuroendocrine carcinoma ORPHA:263335
- Poorly differentiated thymic neuroendocrine carcinoma ORPHA:263339
- Small cell carcinoma of the bladder ORPHA:284400
- Chordoma ORPHA:178
- Rare parathyroid disease and phosphocalcic metabolism anomaly ORPHA:68415
- 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
- Rare parathyroid tumor ORPHA:100090
- Familial primary hyperparathyroidism ORPHA:2207
- Familial isolated hyperparathyroidism ORPHA:99879
- Hyperparathyroidism-jaw tumor syndrome ORPHA:99880
- Multiple endocrine neoplasia type 1 ORPHA:652
- Parathyroid carcinoma ORPHA:143
- Rare hypoparathyroidism ORPHA:181405
- 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
- Autoimmune hypoparathyroidism ORPHA:36913
- Pseudohypoparathyroidism ORPHA:97593
- Pseudohypoparathyroidism with Albright hereditary osteodystrophy ORPHA:457059
- Pseudohypoparathyroidism type 1A ORPHA:79443
- Pseudohypoparathyroidism type 1C ORPHA:79444
- Pseudopseudohypoparathyroidism ORPHA:79445
- Pseudohypoparathyroidism without Albright hereditary osteodystrophy ORPHA:457062
- Secondary hypoparathyroidism due to impaired parathormon secretion ORPHA:140286
- Syndrome with hypoparathyroidism ORPHA:181402
- Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome ORPHA:589856
- Kearns-Sayre syndrome ORPHA:480
- 22q11.2 deletion syndrome ORPHA:567
- 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
- Rare hyperparathyroidism ORPHA:181408
- Neonatal severe primary hyperparathyroidism ORPHA:417
- Familial primary hyperparathyroidism ORPHA:2207
- Familial isolated hyperparathyroidism ORPHA:99879
- Hyperparathyroidism-jaw tumor syndrome ORPHA:99880
- Multiple endocrine neoplasia type 1 ORPHA:652
- Parathyroid carcinoma ORPHA:143
- Sagliker syndrome ORPHA:300493
- Disorders of vitamin D metabolism ORPHA:289098
- Hypophosphatemic rickets ORPHA:437
- Dent disease ORPHA:1652
- Cystinosis ORPHA:213
- Juvenile nephropathic cystinosis ORPHA:411634
- Ocular cystinosis ORPHA:411641
- Infantile nephropathic cystinosis ORPHA:411629
- 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
- Oncogenic osteomalacia ORPHA:352540
- 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
- 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
- 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
- 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
- Rare endocrine growth disease ORPHA:90692
- MIRAGE syndrome ORPHA:494433
- 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
- Congenital hypothyroidism ORPHA:442
- Transient congenital hypothyroidism ORPHA:178045
- Transient congenital hypothyroidism due to maternal factor ORPHA:238696
- Fetal iodine syndrome ORPHA:1910
- Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies ORPHA:95715
- Congenital hypothyroidism due to maternal intake of antithyroid drugs ORPHA:226313
- Transient congenital hypothyroidism due to neonatal factor ORPHA:238699
- 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
- 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
- Alobar holoprosencephaly ORPHA:93925
- Midline interhemispheric variant of holoprosencephaly ORPHA:93926
- Semilobar holoprosencephaly ORPHA:220386
- Lobar holoprosencephaly ORPHA:93924
- 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 precocious puberty ORPHA:95708
- Rare central precocious puberty ORPHA:650063
- Central precocious puberty in male ORPHA:649929
- Primary central precocious puberty in male ORPHA:650087
- Genetic central precocious puberty in male ORPHA:650097
- Non-genetic central precocious puberty in male ORPHA:650102
- Secondary central precocious puberty in male ORPHA:650092
- Rare central precocious puberty in female ORPHA:650070
- Rare peripheral precocious puberty ORPHA:178040
- Rare acquired premature ovarian failure ORPHA:95709
- Rare non-acquired premature ovarian failure ORPHA:95710
- 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
- 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
- Satoyoshi syndrome ORPHA:3130
- Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 ORPHA:572354
- Fragile X-associated primary ovarian insufficiency ORPHA:642691
- 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
- Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome ORPHA:436174
- IMAGe syndrome ORPHA:85173
- Difference of sex development ORPHA:90771
- 46,XX difference of sex development ORPHA:2982
- 46,XX difference of sex development induced by androgens excess ORPHA:98078
- 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 difference of sex development induced by maternal-derived androgen ORPHA:91144
- 46,XX difference of sex development induced by endogenous maternal-derived androgen ORPHA:325093
- 46,XX difference of sex development induced by exogenous maternal-derived androgen ORPHA:325099
- 46,XX difference of sex development induced by fetoplacental androgens excess ORPHA:325061
- 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
- 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
- 46,XY difference of sex development ORPHA:98085
- Penile agenesis ORPHA:49
- 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
- 46,XY difference of sex development of endocrine origin ORPHA:325351
- Androgen insensitivity syndrome ORPHA:754
- Partial androgen insensitivity syndrome ORPHA:90797
- Complete androgen insensitivity syndrome ORPHA:99429
- Persistent Müllerian duct syndrome ORPHA:2856
- 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
- 46,XY difference of sex development induced by maternal exposure to endocrine disruptors ORPHA:325537
- 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
- Primary lipodystrophy ORPHA:90970
- Genetic lipodystrophy ORPHA:98305
- 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
- Proteasome-associated autoinflammatory syndrome ORPHA:324977
- Nestor-Guillermo progeria syndrome ORPHA:280576
- Acquired lipodystrophy ORPHA:98307
- Rare diabetes mellitus ORPHA:101952
- 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
- 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
- Acquired generalized lipodystrophy ORPHA:79086
- 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
- Rare diabetes mellitus type 1 ORPHA:181371
- Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome ORPHA:3044
- Wolfram syndrome ORPHA:3463
- H syndrome ORPHA:168569
- Autoimmune polyendocrinopathy type 3 ORPHA:227982
- Wolfram-like syndrome ORPHA:411590
- Rare diabetes mellitus type 2 ORPHA:181376
- Alström syndrome ORPHA:64
- MODY ORPHA:552
- HNF1B-related autosomal dominant tubulointerstitial kidney disease ORPHA:93111
- Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome ORPHA:391408
- Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome ORPHA:544628
- Other rare diabetes mellitus ORPHA:181381
- Stiff person spectrum disorder ORPHA:3198
- Progressive encephalomyelitis with rigidity and myoclonus ORPHA:438266
- Classic stiff person syndrome ORPHA:443192
- Focal stiff limb syndrome ORPHA:443804
- Hereditary chronic pancreatitis ORPHA:676
- 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
- Thiamine-responsive megaloblastic anemia syndrome ORPHA:49827
- Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome ORPHA:306558
- Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome ORPHA:445062
- Polyendocrine-polyneuropathy syndrome ORPHA:453533
- 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
- Rare adrenal disease ORPHA:101954
- Isolated adrenal medullary hyperplasia ORPHA:688649
- Endogenous Cushing syndrome ORPHA:641613
- Adrenal Cushing syndrome ORPHA:647758
- Rare disease with adrenal Cushing syndrome as a major feature ORPHA:314749
- Multiple endocrine neoplasia type 1 ORPHA:652
- Li-Fraumeni syndrome ORPHA:524
- McCune-Albright syndrome ORPHA:562
- Carney complex ORPHA:1359
- Pseudoleprechaunism syndrome, Patterson type ORPHA:2976
- Adrenocortical carcinoma ORPHA:1501
- Rare adrenocortical nodular disease with Cushing syndrome as a major feature ORPHA:647768
- Cushing syndrome due to cortisol-producing adrenocortical adenoma ORPHA:642788
- Cushing syndrome due to bilateral macronodular adrenocortical disease ORPHA:189427
- ACTH-dependent Cushing syndrome ORPHA:99892
- Apparent mineralocorticoid excess ORPHA:320
- Adrenal/paraganglial tumor ORPHA:100091
- Adrenocortical carcinoma ORPHA:1501
- Familial hyperaldosteronism type II ORPHA:404
- Rare adrenocortical nodular disease ORPHA:649017
- Isolated primary pigmented nodular adrenocortical disease ORPHA:647772
- Isolated micronodular adrenocortical disease ORPHA:647782
- Multiple endocrine neoplasia type 1 ORPHA:652
- Pheochromocytoma-paraganglioma ORPHA:573163
- Multiple paragangliomas associated with polycythemia ORPHA:324299
- Hereditary pheochromocytoma-paraganglioma ORPHA:29072
- Sporadic pheochromocytoma/secreting paraganglioma ORPHA:276621
- Non-functioning paraganglioma ORPHA:94080
- Carney complex ORPHA:1359
- Von Hippel-Lindau disease ORPHA:892
- Multiple endocrine neoplasia type 2A ORPHA:247698
- Multiple endocrine neoplasia type 2B ORPHA:247709
- Pituitary dermoid and epidermoid cysts ORPHA:91351
- Primary adrenal insufficiency ORPHA:101958
- Acute adrenal insufficiency ORPHA:95409
- Chronic primary adrenal insufficiency ORPHA:101959
- Genetic chronic primary adrenal insufficiency ORPHA:101960
- X-linked adrenoleukodystrophy ORPHA:43
- Triple A syndrome ORPHA:869
- Adrenomyodystrophy ORPHA:977
- 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
- Autoimmune polyendocrinopathy type 1 ORPHA:3453
- 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
- Acquired chronic primary adrenal insufficiency ORPHA:101963
- 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
- Rare primary hyperaldosteronism ORPHA:181415
- Rare surgically correctable form of primary aldosteronism ORPHA:231637
- Primary unilateral adrenal hyperplasia ORPHA:231580
- Adrenocortical carcinoma with pure aldosterone hypersecretion ORPHA:231625
- Primary hyperaldosteronism-seizures-neurological abnormalities syndrome ORPHA:369929
- Rare non surgically correctable form of primary aldosteronism ORPHA:231641
- Rare hypoaldosteronism ORPHA:181419
- Corticosteroid-binding globulin deficiency ORPHA:199247
- Rare thyroid disease ORPHA:101955
- Syndrome of reduced sensitivity to thyroid hormone ORPHA:596426
- 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
- Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta ORPHA:566243
- Euthyroid dysprealbuminemic hyperthyroxinemia ORPHA:597939
- Congenital thyroid malformation without hypothyroidism ORPHA:95718
- Familial thyroglossal duct cyst ORPHA:93953
- Thyroid hemiagenesis ORPHA:95719
- Thyroid hypoplasia ORPHA:95720
- Rare thyroid tumor ORPHA:100087
- Rare thyroid carcinoma ORPHA:100088
- Familial medullary thyroid carcinoma ORPHA:99361
- Differentiated thyroid carcinoma ORPHA:146
- Multiple endocrine neoplasia type 2 ORPHA:653
- Anaplastic thyroid carcinoma ORPHA:142
- Medullary thyroid carcinoma ORPHA:1332
- Familial nonmedullary thyroid carcinoma ORPHA:319494
- Thyroid lymphoma ORPHA:97285
- Rare hypothyroidism ORPHA:181396
- Congenital hypothyroidism ORPHA:442
- Transient congenital hypothyroidism ORPHA:178045
- Transient congenital hypothyroidism due to maternal factor ORPHA:238696
- Fetal iodine syndrome ORPHA:1910
- Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies ORPHA:95715
- Congenital hypothyroidism due to maternal intake of antithyroid drugs ORPHA:226313
- Transient congenital hypothyroidism due to neonatal factor ORPHA:238699
- 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
- Rare adult hypothyroidism ORPHA:177101
- Rare hyperthyroidism ORPHA:181399
- Familial hyperthyroidism due to mutations in TSH receptor ORPHA:424
- Familial gestational hyperthyroidism ORPHA:99819
- Pediatric-onset Graves disease ORPHA:525731
- Familial multinodular goiter ORPHA:276399
- Polyendocrinopathy ORPHA:101956
- MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome ORPHA:686495
- Bangstad syndrome ORPHA:1227
- 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
- Autoimmune polyendocrinopathy ORPHA:282196
- Autoimmune polyendocrinopathy type 2 ORPHA:3143
- Autoimmune polyendocrinopathy type 1 ORPHA:3453
- Autoimmune polyendocrinopathy type 3 ORPHA:227982
- Autoimmune polyendocrinopathy type 4 ORPHA:227990
- STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome ORPHA:391487
- Combined immunodeficiency due to LRBA deficiency ORPHA:445018
- Rare hypothalamic or pituitary disease ORPHA:181384
- Diencephalic syndrome ORPHA:1672
- Pituitary deficiency ORPHA:101957
- 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
- Alobar holoprosencephaly ORPHA:93925
- Midline interhemispheric variant of holoprosencephaly ORPHA:93926
- Semilobar holoprosencephaly ORPHA:220386
- Lobar holoprosencephaly ORPHA:93924
- 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
- Acquired pituitary hormone deficiency ORPHA:95502
- Pituitary hormone deficiency of tumoral origin ORPHA:95503
- Meningioma ORPHA:2495
- Optic pathway glioma ORPHA:2086
- Chordoma ORPHA:178
- Craniopharyngioma ORPHA:54595
- Pituitary deficiency due to Rathke cleft cysts ORPHA:91350
- Pituitary dermoid and epidermoid cysts ORPHA:91351
- Germinoma of the central nervous system ORPHA:91352
- Pituitary adenoma ORPHA:99408
- Non-functioning pituitary adenoma ORPHA:91349
- Functioning pituitary adenoma ORPHA:314753
- Prolactinoma ORPHA:2965
- TSH-secreting pituitary adenoma ORPHA:91347
- Functioning gonadotropic adenoma ORPHA:91348
- Cushing disease ORPHA:96253
- Somatotropic adenoma ORPHA:96256
- Nelson syndrome ORPHA:199244
- Mixed functioning pituitary adenoma ORPHA:314759
- Familial isolated pituitary adenoma ORPHA:314777
- Pituitary hormone deficiency of meningeal origin ORPHA:95505
- Primary hypophysitis ORPHA:95506
- Adenohypophysitis ORPHA:95512
- Panhypophysitis ORPHA:95513
- Infundibulo-neurohypophysitis ORPHA:238305
- Pituitary hormone deficiency of vascular origin ORPHA:95611
- Pituitary apoplexy ORPHA:95613
- Pituitary hormone deficiency secondary to a granulomatous disease ORPHA:95617
- Pituitary hormone deficiency secondary to storage disease ORPHA:95618
- Beta-thalassemia ORPHA:848
- Beta-thalassemia intermedia ORPHA:231222
- Beta-thalassemia major ORPHA:231214
- Dominant beta-thalassemia ORPHA:231226
- Hemoglobin H disease ORPHA:93616
- Post-traumatic pituitary deficiency ORPHA:95619
- Late-onset isolated ACTH deficiency ORPHA:199299
- Immunotherapy induced hypophysitis ORPHA:641350
- Arginine vasopressin deficiency ORPHA:178029
- X-linked acrogigantism ORPHA:300373
- Duplication of the pituitary gland ORPHA:314621
- Familial hyperprolactinemia ORPHA:397685
- Hypothalamic adipsic hypernatraemia syndrome ORPHA:443101
- Prepubertal anorexia nervosa ORPHA:525738
- Acquired hypothalamic obesity ORPHA:689401
- 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
- Hypoinsulinemic hypoglycemia and body hemihypertrophy ORPHA:293964
- Hyperinsulinemic hypoglycaemia ORPHA:443095
- 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
- Insulin autoimmune syndrome ORPHA:411593