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- Rare ophthalmic disorder ORPHA:97966
- Rare eye tumor ORPHA:101950
- Eyelid sebaceous carcinoma ORPHA:658590
- Ocular surface squamous neoplasia ORPHA:659744
- Choroidal osteoma ORPHA:674965
- Bilateral diffuse uveal melanocytic proliferation disease ORPHA:674968
- Retinoblastoma ORPHA:790
- Uveal melanoma ORPHA:39044
- Orbital leiomyoma ORPHA:52994
- Ring dermoid of cornea ORPHA:91481
- Intraocular medulloepithelioma ORPHA:268139
- Primary oculocerebral lymphoma ORPHA:279897
- Primary intraocular lymphoma ORPHA:279904
- Combined hamartoma of the retina and retinal pigment epithelium ORPHA:440727
- Conjunctival malignant melanoma ORPHA:617910
- Vasoproliferative tumor of the retina ORPHA:353356
- Neurofibromatosis type 1 ORPHA:636
- Color-vision disease ORPHA:98658
- Rare refraction anomaly ORPHA:98618
- Rare disorder of the visual organs ORPHA:520814
- Neuro-ophthalmological disease ORPHA:140653
- Rare ophthalmic disorder with cranial nerve involvement ORPHA:519349
- Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome ORPHA:397618
- Congenital trigeminal anesthesia ORPHA:231013
- Congenital abducens nerve palsy ORPHA:440233
- Rare trochlear nerve disorder ORPHA:519353
- Familial congenital palsy of trochlear nerve ORPHA:91498
- Congenital trochlear nerve palsy ORPHA:98686
- Rare optic nerve disorder ORPHA:519351
- Disorder with optic nerve compression ORPHA:519337
- Extensive peripapillary myelinated nerve fibers ORPHA:440724
- 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 ORPHA:519333
- Morning glory disc anomaly ORPHA:35737
- Coloboma of optic disc ORPHA:98947
- Peripapillary staphyloma ORPHA:519400
- Isolated megalopapilla ORPHA:519402
- Optic disc pit ORPHA:519404
- Familial cavitary optic disc anomaly ORPHA:464760
- Rare disorder with optic disc malformation ORPHA:519345
- SRD5A3-CDG ORPHA:324737
- Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome ORPHA:435930
- Renal coloboma syndrome ORPHA:1475
- Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome ORPHA:52055
- Autoimmune/inflammatory optic neuropathy ORPHA:499047
- Neuromyelitis optica spectrum disorder ORPHA:71211
- Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies ORPHA:592850
- Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies ORPHA:592869
- Neuromyelitis optica spectrum disorder with anti-MOG antibodies ORPHA:592856
- Acute disseminated encephalomyelitis ORPHA:83597
- Acute disseminated encephalomyelitis with anti-MOG antibodies ORPHA:592894
- Acute disseminated encephalomyelitis without anti-MOG antibodies ORPHA:592900
- Recurrent idiopathic neuroretinitis ORPHA:499103
- Isolated optic neuritis ORPHA:499096
- Chronic relapsing inflammatory optic neuritis ORPHA:499085
- Relapsing isolated optic neuritis ORPHA:659634
- Single isolated optic neuritis ORPHA:659626
- Idiopathic optic perineuritis ORPHA:499107
- Pseudopapilledema ORPHA:519339
- Acrootoocular syndrome ORPHA:2980
- Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome ORPHA:313800
- Diffuse unilateral subacute neuroretinitis ORPHA:674947
- Isolated optic nerve aplasia ORPHA:637064
- Isolated optic nerve hypoplasia ORPHA:637061
- 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
- MERRF ORPHA:551
- Septo-optic dysplasia spectrum ORPHA:3157
- PLAA-associated neurodevelopmental disorder ORPHA:521426
- Pontocerebellar hypoplasia type 3 ORPHA:97249
- X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome ORPHA:482606
- Multiple mitochondrial dysfunctions syndrome type 4 ORPHA:457406
- 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
- Metachromatic leukodystrophy ORPHA:512
- Metachromatic leukodystrophy, late infantile form ORPHA:309256
- Metachromatic leukodystrophy, juvenile form ORPHA:309263
- Metachromatic leukodystrophy, adult form ORPHA:309271
- Krabbe disease ORPHA:487
- Late-infantile/juvenile Krabbe disease ORPHA:206443
- Adult Krabbe disease ORPHA:206448
- Infantile Krabbe disease ORPHA:206436
- 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
- Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ORPHA:496641
- 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
- Infantile cerebellar-retinal degeneration ORPHA:313850
- 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
- Tolosa-Hunt syndrome ORPHA:64686
- Rare oculomotor nerve disorder ORPHA:98685
- Rare ocular motility/alignment disorder ORPHA:519355
- Rare neuromuscular disorder with ocular motility/alignment anomaly ORPHA:519347
- Progressive external ophthalmoplegia ORPHA:520820
- Autosomal dominant progressive external ophthalmoplegia ORPHA:254892
- Autosomal recessive progressive external ophthalmoplegia ORPHA:254886
- Mitochondrial DNA-related progressive external ophthalmoplegia ORPHA:663
- Childhood-onset autosomal recessive myopathy with external ophthalmoplegia ORPHA:363677
- Progressive external ophthalmoplegia-myopathy-emaciation syndrome ORPHA:352447
- Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy ORPHA:329336
- Kearns-Sayre syndrome ORPHA:480
- Oculopharyngeal muscular dystrophy ORPHA:270
- Oculopharyngodistal myopathy ORPHA:98897
- Juvenile Huntington disease ORPHA:248111
- Huntington disease ORPHA:399
- Duchenne muscular dystrophy ORPHA:98896
- 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
- Myasthenia gravis ORPHA:589
- Adult-onset myasthenia gravis ORPHA:391490
- Juvenile myasthenia gravis ORPHA:391497
- Transient neonatal myasthenia gravis ORPHA:391504
- Botulism ORPHA:1267
- Inhalational botulism ORPHA:254504
- Foodborne botulism ORPHA:228371
- Toxin-mediated infectious botulism ORPHA:230800
- Iatrogenic botulism ORPHA:254509
- Oculogastrointestinal muscular dystrophy ORPHA:1876
- Mitochondrial neurogastrointestinal encephalomyopathy ORPHA:298
- Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome ORPHA:2743
- Congenital myasthenic syndrome ORPHA:590
- Rare disorder with strabismus ORPHA:98681
- Syndromic disorder with strabismus ORPHA:98683
- Alpha-N-acetylgalactosaminidase deficiency type 3 ORPHA:79281
- Aniridia-renal agenesis-psychomotor retardation syndrome ORPHA:1064
- Arachnodactyly-abnormal ossification-intellectual disability syndrome ORPHA:1129
- Ataxia-deafness-intellectual disability syndrome ORPHA:1188
- Ataxia-telangiectasia ORPHA:100
- Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome ORPHA:2057
- Brachydactyly-nystagmus-cerebellar ataxia syndrome ORPHA:1246
- Branchiogenic deafness syndrome ORPHA:50815
- Cartilage-hair hypoplasia ORPHA:175
- Cataract-intellectual disability-anal atresia-urinary defects syndrome ORPHA:1381
- Christianson syndrome ORPHA:85278
- Coats disease ORPHA:190
- Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome ORPHA:1369
- Cryptorchidism-arachnodactyly-intellectual disability syndrome ORPHA:1548
- Cyprus facial-neuromusculoskeletal syndrome ORPHA:2674
- Deaf blind hypopigmentation syndrome, Yemenite type ORPHA:3214
- Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome ORPHA:3038
- Gaucher disease type 2 ORPHA:77260
- Haddad syndrome ORPHA:99803
- Holoprosencephaly-craniosynostosis syndrome ORPHA:2163
- IVIC syndrome ORPHA:2307
- Infantile choroidocerebral calcification syndrome ORPHA:1313
- 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
- Marinesco-Sjögren syndrome ORPHA:559
- McDonough syndrome ORPHA:2471
- Microbrachycephaly-ptosis-cleft lip syndrome ORPHA:2511
- Neuroectodermal melanolysosomal disease ORPHA:33445
- Fragile X syndrome ORPHA:908
- Horizontal gaze palsy with progressive scoliosis ORPHA:2744
- Mietens syndrome ORPHA:2557
- Monosomy 9q22.3 syndrome ORPHA:77301
- Morning glory disc anomaly ORPHA:35737
- Mucolipidosis type IV ORPHA:578
- Muscle-eye-brain disease ORPHA:588
- Congenital muscular dystrophy, Fukuyama type ORPHA:272
- Treacher-Collins syndrome ORPHA:861
- Moebius syndrome ORPHA:570
- Congenital fibrosis of extraocular muscles ORPHA:45358
- 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
- Intellectual disability-strabismus syndrome ORPHA:363528
- HIDEA syndrome ORPHA:436141
- 8q12 microduplication syndrome ORPHA:228399
- Frontonasal dysplasia-alopecia-genital anomalies syndrome ORPHA:228390
- X-linked intellectual disability-seizures-psoriasis syndrome ORPHA:3052
- X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome ORPHA:3055
- Progeroid syndrome, Petty type ORPHA:2963
- CHIME syndrome ORPHA:3474
- X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome ORPHA:1568
- Neonatal adrenoleukodystrophy ORPHA:44
- Non-distal deletion 10q syndrome ORPHA:1581
- Severe oculo-renal-cerebellar syndrome ORPHA:2715
- Ptosis-strabismus-ectopic pupils syndrome ORPHA:2999
- Qazi-Markouizos syndrome ORPHA:3010
- Radial ray hypoplasia-choanal atresia syndrome ORPHA:3026
- Schizencephaly ORPHA:799
- W syndrome ORPHA:2804
- Nanophthalmos ORPHA:35612
- Oculocutaneous albinism type 1B ORPHA:79434
- Oculocutaneous albinism type 4 ORPHA:79435
- X-linked intellectual disability, Miles-Carpenter type ORPHA:85283
- Anterior maxillary protrusion-strabismus-intellectual disability syndrome ORPHA:562559
- Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome ORPHA:467176
- Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome ORPHA:522077
- Oculoosteocutaneous syndrome ORPHA:2713
- Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome ORPHA:73246
- Radioulnar synostosis-developmental delay-hypotonia syndrome ORPHA:3270
- Telecanthus-hypertelorism-strabismus-pes cavus syndrome ORPHA:3293
- Rare ophthalmic disorder with cortical involvement ORPHA:519343
- MELAS ORPHA:550
- Autosomal recessive primary microcephaly ORPHA:2512
- Oculomotor apraxia ORPHA:98688
- Ocular motor apraxia, Cogan type ORPHA:1125
- Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome ORPHA:505242
- Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome ORPHA:370022
- Gaucher disease type 3 ORPHA:77261
- Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome ORPHA:2072
- Ataxia-oculomotor apraxia type 4 ORPHA:459033
- Alexander disease type II ORPHA:363722
- Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome ORPHA:411986
- Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ORPHA:477814
- Cerebral visual impairment ORPHA:447788
- Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ORPHA:457351
- Visual snow syndrome ORPHA:420556
- Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome ORPHA:488613
- TELO2-related intellectual disability-neurodevelopmental disorder ORPHA:488642
- Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome ORPHA:480898
- Cortical blindness-intellectual disability-polydactyly syndrome ORPHA:1389
- Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature ORPHA:519341
- Duane retraction syndrome with congenital deafness ORPHA:529574
- 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
- Adult-onset autosomal dominant leukodystrophy ORPHA:99027
- Opsoclonus-myoclonus syndrome ORPHA:1183
- Gaucher disease type 3 ORPHA:77261
- Spasmus nutans ORPHA:279882
- GM1 gangliosidosis type 1 ORPHA:79255
- GM1 gangliosidosis type 2 ORPHA:79256
- Spinocerebellar ataxia type 1 ORPHA:98755
- Spinocerebellar ataxia type 2 ORPHA:98756
- Joubert syndrome and related disorders ORPHA:140874
- Joubert syndrome with Jeune asphyxiating thoracic dystrophy ORPHA:397715
- Joubert syndrome with renal defect ORPHA:220497
- Joubert syndrome with ocular defect ORPHA:220493
- Orofaciodigital syndrome type 6 ORPHA:2754
- Joubert syndrome with hepatic defect ORPHA:1454
- Joubert syndrome ORPHA:475
- Joubert syndrome with oculorenal defect ORPHA:2318
- Ataxia-oculomotor apraxia type 1 ORPHA:1168
- Spinocerebellar ataxia with axonal neuropathy type 2 ORPHA:64753
- Supranuclear eye movement disorder ORPHA:98687
- Spinocerebellar ataxia type 7 ORPHA:94147
- Kufor-Rakeb syndrome ORPHA:306674
- 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
- Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type ORPHA:70472
- Duane retraction syndrome ORPHA:233
- Friedreich ataxia ORPHA:95
- Ataxia-telangiectasia ORPHA:100
- Rare scleral disorder ORPHA:519298
- Rare scleritis ORPHA:648559
- Immune-mediated scleritis ORPHA:648681
- Idiopathic scleritis ORPHA:648675
- Infectious scleritis ORPHA:648665
- Rare disorder with pigmented sclera ORPHA:519296
- Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome ORPHA:2772
- Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency ORPHA:1900
- Alkaptonuria ORPHA:56
- Hydrocephalus-blue sclerae-nephropathy syndrome ORPHA:2186
- Osteogenesis imperfecta type 1 ORPHA:216796
- Osteogenesis imperfecta type 2 ORPHA:216804
- Osteogenesis imperfecta type 3 ORPHA:216812
- Osteogenesis imperfecta type 4 ORPHA:216820
- Braddock syndrome ORPHA:52047
- Cartilage-hair hypoplasia ORPHA:175
- Cole-Carpenter syndrome ORPHA:2050
- Dyssegmental dysplasia, Silverman-Handmaker type ORPHA:1865
- SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome ORPHA:157965
- Grant syndrome ORPHA:2097
- Grubben-de Cock-Borghgraef syndrome ORPHA:2101
- Sensorineural hearing loss-early graying-essential tremor syndrome ORPHA:66633
- 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 maternal uniparental disomy of chromosome 11 ORPHA:231147
- Silver-Russell syndrome due to a point mutation ORPHA:397590
- Silver-Russell syndrome due to 11p15 microduplication ORPHA:231144
- White forelock with malformations ORPHA:2475
- Melnick-Needles syndrome ORPHA:2484
- Uveitis ORPHA:98715
- Intermediate uveitis ORPHA:279914
- Anterior uveitis ORPHA:280886
- Isolated idiopathic anterior uveitis ORPHA:280914
- Infectious anterior uveitis ORPHA:279922
- Systemic diseases with anterior uveitis ORPHA:280926
- Chronic granulomatous disease ORPHA:379
- Behçet disease ORPHA:117
- Sarcoidosis ORPHA:797
- CINCA syndrome ORPHA:1451
- Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis ORPHA:85408
- Oligoarticular juvenile idiopathic arthritis ORPHA:85410
- Enthesitis-related juvenile idiopathic arthritis ORPHA:85438
- Blau syndrome ORPHA:90340
- Tubulointerstitial nephritis and uveitis syndrome ORPHA:91500
- Non-infectious anterior uveitis ORPHA:306648
- Posterior uveitis ORPHA:280892
- Non-infectious posterior uveitis ORPHA:90061
- Birdshot chorioretinopathy ORPHA:179
- Serpiginous choroiditis ORPHA:35686
- Paraneoplastic uveitis ORPHA:279928
- Idiopathic posterior uveitis ORPHA:280917
- Punctate inner choroidopathy ORPHA:580951
- Infectious posterior uveitis ORPHA:279919
- Systemic diseases with posterior uveitis ORPHA:280930
- Panuveitis ORPHA:280898
- Rare disorder of the posterior segment of the eye ORPHA:519311
- Coloboma of choroid and retina ORPHA:98942
- Rare choroidal disorder ORPHA:519309
- Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome ORPHA:139450
- Idiopathic uveal effusion syndrome ORPHA:209956
- Isolated chorioretinal dystrophy ORPHA:519300
- Bietti crystalline dystrophy ORPHA:41751
- Choroideremia ORPHA:180
- Ectopia lentis-chorioretinal dystrophy-myopia syndrome ORPHA:1884
- Sorsby pseudoinflammatory fundus dystrophy ORPHA:59181
- Progressive bifocal chorioretinal atrophy ORPHA:75373
- Central areolar choroidal dystrophy ORPHA:75377
- Helicoid peripapillary chorioretinal degeneration ORPHA:86813
- Pigmented paravenous retinochoroidal atrophy ORPHA:251295
- Central serous chorioretinopathy ORPHA:443079
- Syndromic chorioretinal dystrophy ORPHA:519321
- Autosomal recessive chorioretinopathy-microcephaly syndrome ORPHA:2518
- Xq21 microdeletion syndrome ORPHA:1435
- Microcephaly-lymphedema-chorioretinopathy syndrome ORPHA:2526
- Microcornea-myopic chorioretinal atrophy-telecanthus syndrome ORPHA:369970
- Van den Bosch syndrome ORPHA:3417
- Aicardi syndrome ORPHA:50
- Ataxia-hypogonadism-choroidal dystrophy syndrome ORPHA:1180
- Choroidal atrophy-alopecia syndrome ORPHA:1433
- Punctate inner choroidopathy ORPHA:580951
- Bilateral diffuse uveal melanocytic proliferation disease ORPHA:674968
- Stellate multiform amelanotic choroidopathy ORPHA:674958
- Choroidal osteoma ORPHA:674965
- Uveal melanoma ORPHA:39044
- Rare retinal disorder ORPHA:519315
- Acute macular neuroretinopathy ORPHA:488239
- Autosomal dominant rhegmatogenous retinal detachment ORPHA:209867
- Rare retinal vasculopathy ORPHA:519317
- Coats disease ORPHA:190
- Familial exudative vitreoretinopathy ORPHA:891
- Eales disease ORPHA:40923
- Susac syndrome ORPHA:838
- Isolated retinal racemose hemangioma ORPHA:674924
- Central retinal artery occlusion ORPHA:648684
- Perifoveal exudative vascular anomalous complex ORPHA:674930
- Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ORPHA:247691
- Autosomal dominant neovascular inflammatory vitreoretinopathy ORPHA:329211
- Coats plus syndrome ORPHA:313838
- Rare idiopathic macular telangiectasia ORPHA:482092
- Idiopathic macular telangiectasia type 1 ORPHA:353344
- Idiopathic macular telangiectasia type 3 ORPHA:353351
- Familial retinal arterial macroaneurysm ORPHA:284247
- Congenital retinal arteriovenous communication ORPHA:353334
- Stromme syndrome ORPHA:506307
- Central retinal vein occlusion ORPHA:411527
- Retinal capillary malformation ORPHA:71213
- Retinopathy of prematurity ORPHA:90050
- IRVAN syndrome ORPHA:209943
- Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy ORPHA:136
- Isolated angioid streaks ORPHA:674943
- Diffuse unilateral subacute neuroretinitis ORPHA:674947
- Multiple evanescent white dot syndrome ORPHA:674953
- Bilateral diffuse uveal melanocytic proliferation disease ORPHA:674968
- Acute zonal occult outer retinopathy ORPHA:284454
- Acute annular outer retinopathy ORPHA:284460
- Toxic maculopathy due to antimalarial drugs ORPHA:279894
- Rare macular disorder ORPHA:519313
- Coloboma of macula ORPHA:98945
- Idiopathic macular telangiectasia type 1 ORPHA:353344
- Idiopathic macular telangiectasia type 3 ORPHA:353351
- Torpedo Maculopathy ORPHA:674935
- Isolated foveal hypoplasia ORPHA:519398
- Persistent placoid maculopathy ORPHA:97341
- Bradyopsia ORPHA:75374
- Inherited retinal disorder ORPHA:71862
- Isolated inherited retinal disorder ORPHA:520817
- Isolated stationary inherited retinal disorder ORPHA:519319
- Stargardt disease ORPHA:827
- Congenital stationary night blindness ORPHA:215
- Oguchi disease ORPHA:75382
- Fundus albipunctatus ORPHA:227796
- Achromatopsia ORPHA:49382
- Blue cone monochromatism ORPHA:16
- Oligocone trichromacy ORPHA:75378
- X-linked cone dysfunction syndrome with myopia ORPHA:90001
- Bietti crystalline dystrophy ORPHA:41751
- Familial drusen ORPHA:75376
- Kandori fleck retina ORPHA:99179
- Familial benign flecked retina ORPHA:363989
- Isolated progressive inherited retinal disorder ORPHA:519306
- Leber congenital amaurosis ORPHA:65
- Goldmann-Favre syndrome ORPHA:53540
- Bothnia retinal dystrophy ORPHA:85128
- Autosomal recessive bestrophinopathy ORPHA:139455
- Åland Islands eye disease ORPHA:178333
- Cone dystrophy with supernormal rod response ORPHA:209932
- Severe early-childhood-onset retinal dystrophy ORPHA:364055
- Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome ORPHA:488197
- Late-onset retinal degeneration ORPHA:67042
- Isolated macular dystrophy ORPHA:519302
- Stargardt disease ORPHA:827
- Best vitelliform macular dystrophy ORPHA:1243
- Pattern dystrophy ORPHA:63454
- 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
- Adult-onset foveomacular vitelliform dystrophy ORPHA:99000
- Sorsby pseudoinflammatory fundus dystrophy ORPHA:59181
- North Carolina macular dystrophy ORPHA:75327
- Central areolar choroidal dystrophy ORPHA:75377
- Benign concentric annular macular dystrophy ORPHA:251287
- Retinal macular dystrophy type 2 ORPHA:319640
- Occult macular dystrophy ORPHA:247834
- Cystoid macular dystrophy ORPHA:75381
- Cone rod dystrophy-short stature syndrome ORPHA:653709
- Retinitis pigmentosa ORPHA:791
- Cone rod dystrophy ORPHA:1872
- Progressive cone dystrophy ORPHA:1871
- Retinitis punctata albescens ORPHA:52427
- Syndromic inherited retinal disorder ORPHA:519325
- Gardner syndrome ORPHA:79665
- Tay-Sachs disease ORPHA:845
- Tay-Sachs disease, infantile form ORPHA:309178
- Tay-Sachs disease, adult form ORPHA:309192
- Tay-Sachs disease, juvenile form ORPHA:309185
- Infantile neurovisceral acid sphingomyelinase deficiency ORPHA:77292
- Gaucher disease type 1 ORPHA:77259
- Pseudoxanthoma elasticum ORPHA:758
- Blindness-scoliosis-arachnodactyly syndrome ORPHA:171844
- Snowflake vitreoretinal degeneration ORPHA:91496
- Knobloch syndrome ORPHA:1571
- Primary hyperoxaluria type 1 ORPHA:93598
- Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome ORPHA:85167
- Alström syndrome ORPHA:64
- GM1 gangliosidosis type 1 ORPHA:79255
- Hypotrichosis with juvenile macular degeneration ORPHA:1573
- AICA-ribosiduria ORPHA:250977
- Revesz syndrome ORPHA:3088
- Autosomal recessive chorioretinopathy-microcephaly syndrome ORPHA:2518
- Microcephaly-lymphedema-chorioretinopathy syndrome ORPHA:2526
- Amaurosis-hypertrichosis syndrome ORPHA:1021
- Aceruloplasminemia ORPHA:48818
- MORM syndrome ORPHA:75858
- Joubert syndrome with ocular defect ORPHA:220493
- Cleft lip-retinopathy syndrome ORPHA:1995
- Pantothenate kinase-associated neurodegeneration ORPHA:157850
- Classic pantothenate kinase-associated neurodegeneration ORPHA:216866
- Atypical pantothenate kinase-associated neurodegeneration ORPHA:216873
- Aplasia cutis-myopia syndrome ORPHA:1117
- Ataxia-hypogonadism-choroidal dystrophy syndrome ORPHA:1180
- Cerebellar hypoplasia-tapetoretinal degeneration syndrome ORPHA:2246
- Ramos-Arroyo syndrome ORPHA:1051
- Jalili syndrome ORPHA:1873
- Severe oculo-renal-cerebellar syndrome ORPHA:2715
- Syndromic rod-cone dystrophy ORPHA:98661
- Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome ORPHA:171848
- 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
- Brachydactyly-short stature-retinitis pigmentosa syndrome ORPHA:166035
- Xeroderma pigmentosum-Cockayne syndrome complex ORPHA:220295
- 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
- MRCS syndrome ORPHA:263347
- Methylmalonic acidemia with homocystinuria, type cblC ORPHA:79282
- Cranioectodermal dysplasia ORPHA:1515
- Retinal degeneration-nanophthalmos-glaucoma syndrome ORPHA:1574
- X-linked intellectual disability-retinitis pigmentosa syndrome ORPHA:85332
- Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome ORPHA:494439
- Abetalipoproteinemia ORPHA:14
- Hardikar syndrome ORPHA:1415
- Refsum disease ORPHA:773
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ORPHA:5
- Ataxia with vitamin E deficiency ORPHA:96
- NARP syndrome ORPHA:644
- Peroxisome biogenesis disorder ORPHA:79189
- Infantile Refsum disease ORPHA:772
- Zellweger syndrome ORPHA:912
- Neonatal adrenoleukodystrophy ORPHA:44
- Axial spondylometaphyseal dysplasia ORPHA:168549
- Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement ORPHA:2196
- Senior-Loken syndrome ORPHA:3156
- Tricho-retino-dento-digital syndrome ORPHA:1264
- Trichomegaly-retina pigmentary degeneration-dwarfism syndrome ORPHA:3363
- Sandhoff disease ORPHA:796
- Sandhoff disease, adult form ORPHA:309169
- Sandhoff disease, juvenile form ORPHA:309162
- Sandhoff disease, infantile form ORPHA:309155
- Stickler syndrome ORPHA:828
- Stickler syndrome type 1 ORPHA:90653
- Stickler syndrome type 2 ORPHA:90654
- Autosomal recessive Stickler syndrome ORPHA:250984
- Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome ORPHA:313800
- Sialidosis ORPHA:309294
- 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
- Progressive retinal dystrophy due to retinol transport defect ORPHA:352718
- Infantile cerebellar-retinal degeneration ORPHA:313850
- Galactosialidosis ORPHA:351
- Sjögren-Larsson syndrome ORPHA:816
- Joubert syndrome with oculorenal defect ORPHA:2318
- Orofaciodigital syndrome type 9 ORPHA:141007
- Aicardi syndrome ORPHA:50
- Syndromic macular dystrophy ORPHA:519323
- 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
- Macular coloboma-cleft palate-hallux valgus syndrome ORPHA:91494
- Farber disease ORPHA:333
- Mucolipidosis type IV ORPHA:578
- 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
- X-linked retinal dysplasia ORPHA:1852
- Cancer-associated retinopathy ORPHA:71505
- Vitreoretinopathy ORPHA:98668
- Isolated vitreoretinopathy ORPHA:519304
- Coats disease ORPHA:190
- Autosomal dominant vitreoretinochoroidopathy ORPHA:3086
- Familial exudative vitreoretinopathy ORPHA:891
- Wagner disease ORPHA:898
- Goldmann-Favre syndrome ORPHA:53540
- Persistent hyperplastic primary vitreous ORPHA:91495
- Autosomal dominant neovascular inflammatory vitreoretinopathy ORPHA:329211
- Snowflake vitreoretinal degeneration ORPHA:91496
- Syndromic vitreoretinopathy ORPHA:519327
- Norrie disease ORPHA:649
- Trisomy 13 syndrome ORPHA:3378
- Osteoporosis-pseudoglioma syndrome ORPHA:2788
- Spondylo-ocular syndrome ORPHA:85194
- Coats plus syndrome ORPHA:313838
- Incontinentia pigmenti ORPHA:464
- Walker-Warburg syndrome ORPHA:899
- 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
- Rare disorder involving multiple structures of the eye ORPHA:519329
- Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome ORPHA:617449
- Oculo-auriculo-vertebral spectrum ORPHA:141132
- 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
- Endophthalmitis ORPHA:199323
- IgG4-related ophthalmic disease ORPHA:449563
- Pediatric-onset glaucoma ORPHA:523000
- Primary early-onset glaucoma ORPHA:156005
- Secondary early-onset glaucoma ORPHA:519331
- Congenital malformation of the eye with glaucoma as a major feature ORPHA:98631
- X-linked retinoschisis ORPHA:792
- Nanophthalmos ORPHA:35612
- Coats disease ORPHA:190
- Anterior segment developmental anomaly without extraocular manifestations ORPHA:98634
- Bilateral acute depigmentation of the iris ORPHA:69736
- Axenfeld anomaly ORPHA:98978
- Peters anomaly ORPHA:708
- Autosomal recessive anterior segment dysgenesis ORPHA:519388
- Isolated aniridia ORPHA:250923
- Rieger anomaly ORPHA:91483
- Congenital microcoria ORPHA:566
- Congenital ectropion uveae ORPHA:91491
- Coloboma of iris ORPHA:98944
- Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome ORPHA:488197
- Isolated iridoschisis ORPHA:519392
- Iridocorneal endothelial syndrome ORPHA:64734
- Posterior polymorphous corneal dystrophy ORPHA:98973
- Glaucoma secondary to spherophakia/ectopia lentis and megalocornea ORPHA:238763
- Neovascular glaucoma ORPHA:94058
- Rare disease with glaucoma as a major feature ORPHA:98638
- Aniridia-renal agenesis-psychomotor retardation syndrome ORPHA:1064
- Aniridia-absent patella syndrome ORPHA:1069
- Blepharoptosis-myopia-ectopia lentis syndrome ORPHA:1259
- Desbuquois syndrome ORPHA:1425
- 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
- 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
- Nail-patella syndrome ORPHA:2614
- Microcephalic osteodysplastic primordial dwarfism types I and III ORPHA:2636
- Microcornea-glaucoma-absent frontal sinuses syndrome ORPHA:2536
- Mosaic variegated aneuploidy syndrome ORPHA:1052
- Muscle-eye-brain disease ORPHA:588
- Congenital muscular dystrophy, Fukuyama type ORPHA:272
- Spastic paraplegia-glaucoma-intellectual disability syndrome ORPHA:2818
- Glaucoma-sleep apnea syndrome ORPHA:2085
- Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome ORPHA:314555
- Glaucomatocyclitic crisis disease ORPHA:636950
- Keratitis fugax hereditaria ORPHA:647815
- Scarring in glaucoma filtration surgical procedures ORPHA:90080
- Structural developmental eye defect ORPHA:519272
- Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome ORPHA:659904
- Euthyroid Graves orbitopathy ORPHA:466682
- Colobomatous macrophthalmia-microcornea syndrome ORPHA:468672
- Melnick-Needles syndrome ORPHA:2484
- Congenital cystic eye ORPHA:519384
- Microphthalmia-anophthalmia-coloboma ORPHA:98555
- Isolated microphthalmia-anophthalmia-coloboma ORPHA:2542
- Syndromic microphthalmia-anophthalmia-coloboma ORPHA:202948
- Microphthalmia with limb anomalies ORPHA:1106
- Microphthalmia-microtia-fetal akinesia syndrome ORPHA:2547
- Microphthalmia, Lenz type ORPHA:568
- COFS syndrome ORPHA:1466
- 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
- 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
- Oculoauricular syndrome, Schorderet type ORPHA:157962
- Ectodermal dysplasia-blindness syndrome ORPHA:1806
- Macrosomia-microphthalmia-cleft palate syndrome ORPHA:2432
- Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome ORPHA:251279
- High myopia-sensorineural deafness syndrome ORPHA:363396
- Rare disorder of the ocular adnexa ORPHA:519266
- Rare palpebral disorder ORPHA:98560
- Congenital malformation of the eyelid ORPHA:98561
- Cryptophthalmia ORPHA:98562
- Microblepharon-ablephara syndrome ORPHA:98563
- Eyelid border anomaly ORPHA:98564
- Isolated ankyloblepharon filiforme adnatum ORPHA:91397
- Syndromic ankyloblepharon filiforme adnatum ORPHA:98565
- Popliteal pterygium syndrome ORPHA:294963
- 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
- Microphthalmia-ankyloblepharon-intellectual disability syndrome ORPHA:85275
- 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 eyelid malposition disorder ORPHA:98567
- Epiblepharon ORPHA:99169
- Euryblepharon ORPHA:99172
- Syndromic epicanthus ORPHA:98574
- Down syndrome ORPHA:870
- 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
- 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
- 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
- Waardenburg syndrome type 3 ORPHA:896
- Oculocerebrofacial syndrome, Kaufman type ORPHA:2707
- Blepharophimosis-ptosis-epicanthus inversus syndrome plus ORPHA:572333
- Ascher syndrome ORPHA:1253
- Rare disorder with entropion ORPHA:519270
- Xeroderma pigmentosum ORPHA:910
- Xeroderma pigmentosum variant ORPHA:90342
- Xeroderma pigmentosum-Cockayne syndrome complex ORPHA:220295
- Tarsal kink syndrome ORPHA:99170
- Isolated congenital entropion ORPHA:519386
- Rare disorder with ectropion ORPHA:519268
- Congenital ectropion ORPHA:98570
- Blepharo-cheilo-odontic syndrome ORPHA:1997
- Kabuki syndrome ORPHA:2322
- Isolated congenital ectropion ORPHA:99171
- Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome ORPHA:357158
- Secondary ectropion ORPHA:98571
- Autosomal recessive congenital ichthyosis ORPHA:281097
- Exfoliative ichthyosis ORPHA:289586
- Self-improving collodion baby ORPHA:281122
- Acral self-healing collodion baby ORPHA:281127
- Congenital ichthyosiform erythroderma ORPHA:79394
- Lamellar ichthyosis ORPHA:313
- Harlequin ichthyosis ORPHA:457
- Bathing suit ichthyosis ORPHA:100976
- Postaxial acrofacial dysostosis ORPHA:246
- Barber-Say syndrome ORPHA:1231
- Xeroderma pigmentosum ORPHA:910
- Xeroderma pigmentosum variant ORPHA:90342
- Xeroderma pigmentosum-Cockayne syndrome complex ORPHA:220295
- Down syndrome ORPHA:870
- Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome ORPHA:2269
- Syndromic outer canthal malposition ORPHA:98576
- Noonan syndrome-like disorder with loose anagen hair ORPHA:2701
- Noonan syndrome ORPHA:648
- Treacher-Collins syndrome ORPHA:861
- Nager syndrome ORPHA:245
- Down syndrome ORPHA:870
- Rare disorder with ptosis ORPHA:98578
- 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
- Jacobsen syndrome ORPHA:2308
- 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
- Camptodactyly-joint contractures-facial skeletal defects syndrome ORPHA:1323
- Blepharophimosis-intellectual disability syndrome ORPHA:293642
- Blepharophimosis-intellectual disability syndrome, SBBYS type ORPHA:3047
- Blepharophimosis-intellectual disability syndrome, MKB type ORPHA:293707
- Blepharophimosis-intellectual disability syndrome, Verloes type ORPHA:293725
- Distal deletion 3p syndrome ORPHA:1620
- Blepharophimosis-intellectual disability syndrome, Ohdo type ORPHA:2728
- SMARCA2-related blepharophimosis-intellectual disability syndrome ORPHA:637013
- Weiss-Kruszka Syndrome ORPHA:502430
- Blepharophimosis-ptosis-epicanthus inversus syndrome plus ORPHA:572333
- Isolated blepharochalasis ORPHA:519390
- Mucous membrane pemphigoid ORPHA:46486
- Rare eyebrow/eyelash disorder ORPHA:98594
- Rare disorder of the lacrimal apparatus ORPHA:98602
- 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
- EEC syndrome and related disorders ORPHA:98609
- ADULT syndrome ORPHA:978
- EEC syndrome ORPHA:1896
- Lacrimoauriculodentodigital syndrome ORPHA:2363
- Limb-mammary syndrome ORPHA:69085
- Inflammatory/autoimmune disorder involving the lacrimal system ORPHA:519264
- Lacrimal drainage system anomaly ORPHA:98605
- Syndromic lacrimal system disorder ORPHA:519274
- Dyskeratosis congenita ORPHA:1775
- Syndromic orbital border hypoplasia ORPHA:98606
- Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome ORPHA:228396
- Familial congenital nasolacrimal duct obstruction ORPHA:451612
- Nasolacrimal duct cyst ORPHA:141083
- Rare disorder of the anterior segment of the eye ORPHA:519284
- Rare disorder with conjunctival involvement as a major feature ORPHA:98610
- Hypoplasminogenemia ORPHA:722
- Ocular cicatricial pemphigoid ORPHA:99922
- Rare conjunctivitis ORPHA:519280
- Gonococcal conjunctivitis ORPHA:1482
- Vernal keratoconjunctivitis ORPHA:70476
- Superior limbic keratoconjunctivitis ORPHA:88633
- Atopic keratoconjunctivitis ORPHA:163934
- Laryngo-onycho-cutaneous syndrome ORPHA:2407
- Hereditary hemorrhagic telangiectasia ORPHA:774
- Familial pterygium of the conjunctiva ORPHA:2989
- Rare corneal disorder ORPHA:519282
- Limbal stem cell deficiency ORPHA:171673
- Congenital cornea plana ORPHA:53691
- Corneodysgenesis ORPHA:98635
- Rare disorder with corneal involvement as a major feature ORPHA:519288
- EEC syndrome ORPHA:1896
- Corneal dystrophy ORPHA:34533
- Posterior corneal dystrophy ORPHA:98627
- X-linked endothelial corneal dystrophy ORPHA:293621
- Posterior polymorphous corneal dystrophy ORPHA:98973
- Fuchs endothelial corneal dystrophy ORPHA:98974
- Congenital hereditary endothelial dystrophy type II ORPHA:293603
- Syndromic corneal dystrophy ORPHA:98628
- Ocular cystinosis ORPHA:411641
- Brittle cornea syndrome ORPHA:90354
- Spinocerebellar degeneration-corneal dystrophy syndrome ORPHA:3177
- 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
- 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
- Superficial corneal dystrophy ORPHA:98625
- Climatic droplet keratopathy ORPHA:98958
- Meesmann corneal dystrophy ORPHA:98954
- Lisch epithelial corneal dystrophy ORPHA:98955
- Subepithelial mucinous corneal dystrophy ORPHA:98959
- Epithelial basement membrane dystrophy ORPHA:98956
- Reis-Bücklers corneal dystrophy ORPHA:98961
- Gelatinous drop-like corneal dystrophy ORPHA:98957
- Grayson-Wilbrandt corneal dystrophy ORPHA:293375
- 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
- Syndromic keratoconus ORPHA:98623
- Down syndrome ORPHA:870
- GAPO syndrome ORPHA:2067
- Marfan syndrome ORPHA:558
- Vernal keratoconjunctivitis ORPHA:70476
- EDICT syndrome ORPHA:293936
- Rare inflammatory/autoimmune corneal disorder ORPHA:519290
- Autosomal dominant keratitis ORPHA:2334
- Idiopathic linear interstitial keratitis ORPHA:314017
- Cogan syndrome ORPHA:1467
- Infective keratitis ORPHA:519278
- Infectious epithelial keratitis ORPHA:137593
- Amoebic keratitis ORPHA:67043
- Fungal keratitis ORPHA:519930
- Herpes simplex virus stromal keratitis ORPHA:137599
- Corneal endotheliitis ORPHA:137602
- Neurotrophic keratopathy ORPHA:137596
- Thygeson superficial punctate keratitis ORPHA:519406
- KID syndrome ORPHA:477
- Mooren ulcer ORPHA:519408
- Pellucid marginal degeneration ORPHA:137672
- Terrien marginal degeneration ORPHA:519410
- 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
- Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum ORPHA:95455
- Tyrosinemia type 2 ORPHA:28378
- Megalocornea-intellectual disability syndrome ORPHA:2479
- Epidermolysis bullosa simplex with muscular dystrophy ORPHA:257
- Neurooculocardiogenitourinary syndrome ORPHA:684305
- Rare lens disease ORPHA:98639
- Rare disorder with lens opacification ORPHA:98640
- 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 cataract ORPHA:98641
- Norrie disease ORPHA:649
- WAGR syndrome ORPHA:893
- 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-intellectual disability-anal atresia-urinary defects syndrome ORPHA:1381
- Cataract-intellectual disability-hypogonadism syndrome ORPHA:1387
- Vici syndrome ORPHA:1493
- Hypergonadotropic hypogonadism-cataract syndrome ORPHA:2410
- Nathalie syndrome ORPHA:2663
- Cochleosaccular degeneration-cataract syndrome ORPHA:3233
- Aymé-Gripp syndrome ORPHA:1272
- Congenital cataract-anterior segment dysgenesis syndrome ORPHA:162
- Hypomyelination-congenital cataract syndrome ORPHA:85163
- Persistent hyperplastic primary vitreous ORPHA:91495
- 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
- Wolf-Hirschhorn syndrome ORPHA:280
- Monosomy 5p syndrome ORPHA:281
- Monosomy 18p syndrome ORPHA:1598
- Monosomy 18q syndrome ORPHA:1600
- Trisomy 13 syndrome ORPHA:3378
- Trisomy 18 syndrome ORPHA:3380
- Trisomy 9p syndrome ORPHA:236
- 21q deletion syndrome ORPHA:574
- Monosomy 13q14 syndrome ORPHA:1587
- Distal deletion 13q syndrome ORPHA:1590
- Non-distal duplication 10q syndrome ORPHA:1695
- Trisomy 5p syndrome ORPHA:1742
- Tetrasomy 5p syndrome ORPHA:3309
- Distal duplication 2p syndrome ORPHA:96070
- 3q26 microduplication syndrome ORPHA:96095
- Distal duplication 10q syndrome ORPHA:96102
- Monosomy 13q34 syndrome ORPHA:96168
- 15q overgrowth syndrome ORPHA:314585
- Down syndrome ORPHA:870
- Triploidy syndrome ORPHA:3376
- Mosaic variegated aneuploidy syndrome ORPHA:1052
- Juvenile cataract-microcornea-renal glucosuria syndrome ORPHA:247794
- 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
- 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
- Gyrate atrophy of choroid and retina ORPHA:414
- Fatty acyl-CoA reductase 1 deficiency ORPHA:438178
- Neutral lipid storage disease with ichthyosis ORPHA:98907
- 3-methylglutaconic aciduria type 4 ORPHA:67048
- ALG2-CDG ORPHA:79326
- ALG8-CDG ORPHA:79325
- Alpha-N-acetylgalactosaminidase deficiency type 3 ORPHA:79281
- Cerebrotendinous xanthomatosis ORPHA:909
- Lathosterolosis ORPHA:46059
- Mevalonic aciduria ORPHA:29
- Multiple sulfatase deficiency ORPHA:585
- Muscle-eye-brain disease ORPHA:588
- Congenital muscular dystrophy, Fukuyama type ORPHA:272
- Neonatal adrenoleukodystrophy ORPHA:44
- Peters plus syndrome ORPHA:709
- 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
- Abetalipoproteinemia ORPHA:14
- Homocystinuria due to cystathionine beta-synthase deficiency ORPHA:394
- Spastic paraparesis-cataracts-speech delay syndrome ORPHA:615938
- Renal disease with cataract ORPHA:98646
- 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
- Apert syndrome ORPHA:87
- Zellweger syndrome ORPHA:912
- Hallermann-Streiff syndrome ORPHA:2108
- Smith-Lemli-Opitz syndrome ORPHA:818
- Crouzon syndrome ORPHA:207
- Hallermann-Streiff-like syndrome ORPHA:2109
- Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome ORPHA:1369
- Meckel syndrome ORPHA:564
- Behr syndrome ORPHA:1239
- Sotos syndrome ORPHA:821
- Marinesco-Sjögren syndrome ORPHA:559
- Congenital cataracts-facial dysmorphism-neuropathy syndrome ORPHA:48431
- Isolated aniridia ORPHA:250923
- Absence deformity of leg-cataract syndrome ORPHA:2310
- Adams-Oliver syndrome ORPHA:974
- Alpha-N-acetylgalactosaminidase deficiency ORPHA:3137
- Alpha-N-acetylgalactosaminidase deficiency type 3 ORPHA:79281
- Alpha-N-acetylgalactosaminidase deficiency type 2 ORPHA:79280
- Alpha-N-acetylgalactosaminidase deficiency type 1 ORPHA:79279
- Alström syndrome ORPHA:64
- Aniridia-intellectual disability syndrome ORPHA:1068
- Autoimmune polyendocrinopathy type 1 ORPHA:3453
- Autosomal recessive cerebelloparenchymal disorder type 3 ORPHA:1170
- Autosomal recessive palmoplantar keratoderma and congenital alopecia ORPHA:1366
- CODAS syndrome ORPHA:1458
- Cardiomyopathy-cataract-hip spine disease syndrome ORPHA:1345
- Cataract-ataxia-deafness syndrome ORPHA:1368
- Cataract-deafness-hypogonadism syndrome ORPHA:1383
- Cataract-nephropathy-encephalopathy syndrome ORPHA:1380
- Blomstrand lethal chondrodysplasia ORPHA:50945
- Cloverleaf skull-multiple congenital anomalies syndrome ORPHA:93267
- Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome ORPHA:1875
- Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome ORPHA:2772
- Congenital rubella syndrome ORPHA:290
- Craniolenticulosutural dysplasia ORPHA:50814
- Cyprus facial-neuromusculoskeletal syndrome ORPHA:2674
- Dahlberg-Borer-Newcomer syndrome ORPHA:1563
- Deafness-onychodystrophy syndrome ORPHA:3231
- Developmental malformations-deafness-dystonia syndrome ORPHA:79107
- Ectopia lentis-chorioretinal dystrophy-myopia syndrome ORPHA:1884
- Erythrokeratodermia variabilis ORPHA:317
- Familial isolated hypoparathyroidism ORPHA:2238
- Familial isolated hypoparathyroidism due to impaired PTH secretion ORPHA:189466
- Familial isolated hypoparathyroidism due to agenesis of parathyroid gland ORPHA:2239
- Autosomal dominant hypocalcemia ORPHA:428
- Congenital varicella syndrome ORPHA:291
- Flynn-Aird syndrome ORPHA:2047
- Foveal hypoplasia-presenile cataract syndrome ORPHA:2253
- Harrod syndrome ORPHA:2115
- Hereditary mucoepithelial dysplasia ORPHA:1839
- Hidrotic ectodermal dysplasia ORPHA:189
- Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome ORPHA:2250
- Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome ORPHA:2278
- Infantile spasms-broad thumbs syndrome ORPHA:3173
- Intellectual disability-cataracts-calcified pinnae-myopathy syndrome ORPHA:3042
- Leber congenital amaurosis ORPHA:65
- Lymphedema-distichiasis syndrome ORPHA:33001
- Mandibuloacral dysplasia ORPHA:2457
- Mandibuloacral dysplasia with type A lipodystrophy ORPHA:90153
- Mandibuloacral dysplasia with type B lipodystrophy ORPHA:90154
- Marshall syndrome ORPHA:560
- Micro syndrome ORPHA:2510
- Microcephalic osteodysplastic dysplasia, Saul-Wilson type ORPHA:85172
- Microcephalic primordial dwarfism, Toriello type ORPHA:2643
- Microcephaly-brachydactyly-kyphoscoliosis syndrome ORPHA:3433
- Microcephaly-microcornea syndrome, Seemanova type ORPHA:2528
- Microphthalmia with brain and digit anomalies ORPHA:139471
- Microspherophakia-metaphyseal dysplasia syndrome ORPHA:2551
- Full NF2-related schwannomatosis ORPHA:637
- Oculo-palato-cerebral syndrome ORPHA:2714
- Oculocerebral hypopigmentation syndrome, Cross type ORPHA:2719
- Oculodentodigital dysplasia ORPHA:2710
- Oculofaciocardiodental syndrome ORPHA:2712
- Osteoporosis-pseudoglioma syndrome ORPHA:2788
- Proteus-like syndrome ORPHA:2969
- Proximal myotonic myopathy ORPHA:606
- Relapsing polychondritis ORPHA:728
- Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome ORPHA:3085
- Scalp-ear-nipple syndrome ORPHA:2036
- Schwartz-Jampel syndrome ORPHA:800
- Siegler-Brewer-Carey syndrome ORPHA:3167
- Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome ORPHA:478049
- Xeroderma pigmentosum ORPHA:910
- Oculoskeletodental syndrome ORPHA:557003
- Werner syndrome ORPHA:902
- Microcephaly-congenital cataract-psoriasiform dermatitis syndrome ORPHA:488168
- Spastic ataxia-corneal dystrophy syndrome ORPHA:2572
- Tricho-retino-dento-digital syndrome ORPHA:1264
- Upper limb defect-eye and ear abnormalities syndrome ORPHA:2489
- Trichothiodystrophy ORPHA:33364
- Epidermal nevus syndrome ORPHA:35125
- Blau syndrome ORPHA:90340
- Deafness-intellectual disability syndrome, Martin-Probst type ORPHA:85321
- X-linked intellectual disability, Armfield type ORPHA:85276
- Tetraamelia-multiple malformations syndrome ORPHA:3301
- Basel-Vanagaite-Smirin-Yosef syndrome ORPHA:464738
- Spondylo-ocular syndrome ORPHA:85194
- X-linked retinoschisis ORPHA:792
- Vogt-Koyanagi-Harada disease ORPHA:3437
- Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract ORPHA:500545
- Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome ORPHA:521432
- X-linked intellectual disability, Najm type ORPHA:163937
- Oculocerebral hypopigmentation syndrome, Preus type ORPHA:2720
- Congenital muscular dystrophy-cataract-intellectual disability syndrome ORPHA:662184
- Intellectual disability-early-onset cataract-microcephaly syndrome ORPHA:633035
- Lens size anomaly ORPHA:98652
- Isolated microspherophakia ORPHA:519396
- Syndromic microspherophakia ORPHA:519294
- Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome ORPHA:2084
- Microspherophakia-metaphyseal dysplasia syndrome ORPHA:2551
- Weill-Marchesani syndrome ORPHA:3449
- Ichthyosis-short stature-brachydactyly-microspherophakia syndrome ORPHA:363992
- Autosomal dominant vitreoretinochoroidopathy ORPHA:3086
- Spondylo-ocular syndrome ORPHA:85194
- Lens position anomaly ORPHA:98653
- Syndromic ectopia lentis ORPHA:519292
- Blindness-scoliosis-arachnodactyly syndrome ORPHA:171844
- Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome ORPHA:231736
- Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome ORPHA:412022
- Marshall syndrome ORPHA:560
- 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
- Aniridia-intellectual disability syndrome ORPHA:1068
- Epidermolysis bullosa simplex with anodontia/hypodontia ORPHA:2325
- Focal dermal hypoplasia ORPHA:2092
- Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome ORPHA:2084
- Microspherophakia-metaphyseal dysplasia syndrome ORPHA:2551
- Weill-Marchesani syndrome ORPHA:3449
- Blepharoptosis-myopia-ectopia lentis syndrome ORPHA:1259
- Isolated ectopia lentis ORPHA:1885
- 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
- Coloboma of eye lens ORPHA:98943
- Rare disorder of the pupil ORPHA:519286
- Oculocerebrorenal syndrome of Lowe ORPHA:534
- Refsum disease ORPHA:773
- Trisomy 9p syndrome ORPHA:236
- Multisystemic smooth muscle dysfunction syndrome ORPHA:404463
- Holmes-Adie syndrome ORPHA:454718
- Aniridia-ptosis-intellectual disability-familial obesity syndrome ORPHA:1067
- Ectopia lentis-chorioretinal dystrophy-myopia syndrome ORPHA:1884
- Hirschsprung disease-ganglioneuroblastoma syndrome ORPHA:2151
- Osteoporosis-pseudoglioma syndrome ORPHA:2788
- Proteus-like syndrome ORPHA:2969
- Ptosis-strabismus-ectopic pupils syndrome ORPHA:2999
- SHORT syndrome ORPHA:3163
- Spastic ataxia with congenital miosis ORPHA:1182
- Unilateral ocular duplication ORPHA:3374
- X-linked corneal dermoid ORPHA:1661
- Congenital Horner syndrome ORPHA:91413
- Botulism ORPHA:1267
- Inhalational botulism ORPHA:254504
- Foodborne botulism ORPHA:228371
- Toxin-mediated infectious botulism ORPHA:230800
- Iatrogenic botulism ORPHA:254509
- Chondrodysplasia-difference of sex development syndrome ORPHA:1422
- Familial dysautonomia ORPHA:1764
- Stormorken-Sjaastad-Langslet syndrome ORPHA:3204
- Anterior segment developmental anomaly ORPHA:88632
- Anterior segment developmental abnormality with extraocular manifestations ORPHA:519276
- Peters plus syndrome ORPHA:709
- SHORT syndrome ORPHA:3163
- GMS syndrome ORPHA:2090
- Pierson syndrome ORPHA:2670
- Uveal coloboma-cleft lip and palate-intellectual disability ORPHA:1473
- Axenfeld-Rieger syndrome ORPHA:782
- Distal deletion 6p syndrome ORPHA:96125
- Stromme syndrome ORPHA:506307
- Syndromic aniridia ORPHA:98557
- Aniridia-ptosis-intellectual disability-familial obesity syndrome ORPHA:1067
- Aniridia-intellectual disability syndrome ORPHA:1068
- 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
- Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome ORPHA:52055
- 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
- Cat-eye syndrome ORPHA:195
- 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
- Peters anomaly ORPHA:708
- Autosomal recessive anterior segment dysgenesis ORPHA:519388
- Isolated aniridia ORPHA:250923
- Rieger anomaly ORPHA:91483
- Congenital microcoria ORPHA:566
- Congenital ectropion uveae ORPHA:91491
- Coloboma of iris ORPHA:98944
- Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome ORPHA:488197
- Isolated iridoschisis ORPHA:519392