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CC-BY-4.0
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162718
Orphanet classification of rare ophthalmic disorders
97966
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97966
Rare ophthalmic disorder
Category
101950
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101950
Rare eye tumor
Category
658590
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658590
Eyelid sebaceous carcinoma
Disease
790
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=790
Retinoblastoma
Disease
357027
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357027
Hereditary retinoblastoma
Clinical subtype
357034
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357034
Non-hereditary retinoblastoma
Clinical subtype
39044
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=39044
Uveal melanoma
Disease
52994
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52994
Orbital leiomyoma
Disease
91481
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91481
Ring dermoid of cornea
Disease
268139
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268139
Intraocular medulloepithelioma
Disease
279897
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279897
Primary oculocerebral lymphoma
Disease
279904
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279904
Primary intraocular lymphoma
Disease
440727
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440727
Combined hamartoma of the retina and retinal pigment epithelium
Disease
617910
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617910
Conjunctival malignant melanoma
Disease
353356
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353356
Vasoproliferative tumor of the retina
Disease
636
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636
Neurofibromatosis type 1
Disease
97685
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97685
17q11 microdeletion syndrome
Clinical subtype
363700
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363700
Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
Etiological subtype
98658
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98658
Color-vision disease
Category
16
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=16
Blue cone monochromatism
Disease
49382
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49382
Achromatopsia
Disease
88629
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88629
Tritanopia
Disease
98618
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98618
Rare refraction anomaly
Category
98619
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98619
Rare isolated myopia
Disease
98621
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98621
Rare hyperopia and astigmatism
Category
53691
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53691
Congenital cornea plana
Morphological anomaly
98622
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98622
Syndromic hyperopia
Category
3163
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3163
SHORT syndrome
Malformation syndrome
65
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65
Leber congenital amaurosis
Disease
520814
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=520814
Rare disorder of the visual organs
Category
140653
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140653
Neuro-ophthalmological disease
Category
519349
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519349
Rare ophthalmic disorder with cranial nerve involvement
Category
397618
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397618
Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome
Disease
231013
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231013
Congenital trigeminal anesthesia
Disease
440233
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440233
Congenital abducens nerve palsy
Disease
519353
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519353
Rare trochlear nerve disorder
Category
91498
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91498
Familial congenital palsy of trochlear nerve
Disease
98686
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98686
Congenital trochlear nerve palsy
Disease
519351
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519351
Rare optic nerve disorder
Category
519337
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519337
Disorder with optic nerve compression
Category
53
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53
Albers-Schönberg osteopetrosis
Malformation syndrome
667
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=667
Autosomal recessive malignant osteopetrosis
Malformation syndrome
440724
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440724
Extensive peripapillary myelinated nerve fibers
Disease
137905
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137905
Syndromic optic nerve hypoplasia
Category
3157
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3157
Septo-optic dysplasia spectrum
Malformation syndrome
250972
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250972
Polymicrogyria with optic nerve hypoplasia
Malformation syndrome
603494
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603494
Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome
Malformation syndrome
519333
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519333
Congenital optic disc excavation
Category
35737
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35737
Morning glory disc anomaly
Morphological anomaly
98947
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98947
Coloboma of optic disc
Morphological anomaly
519400
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519400
Peripapillary staphyloma
Morphological anomaly
519402
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519402
Isolated megalopapilla
Morphological anomaly
519404
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519404
Optic disc pit
Morphological anomaly
464760
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464760
Familial cavitary optic disc anomaly
Morphological anomaly
519345
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519345
Rare disorder with optic disc malformation
Category
324737
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324737
SRD5A3-CDG
Disease
435930
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435930
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
Disease
1475
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1475
Renal coloboma syndrome
Malformation syndrome
52055
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52055
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
Malformation syndrome
499047
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=499047
Autoimmune/inflammatory optic neuropathy
Clinical group
71211
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71211
Neuromyelitis optica spectrum disorder
Disease
592850
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592850
Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies
Clinical subtype
592869
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592869
Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies
Clinical subtype
592856
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592856
Neuromyelitis optica spectrum disorder with anti-MOG antibodies
Clinical subtype
83597
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83597
Acute disseminated encephalomyelitis
Disease
592894
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592894
Acute disseminated encephalomyelitis with anti-MOG antibodies
Clinical subtype
592900
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592900
Acute disseminated encephalomyelitis without anti-MOG antibodies
Clinical subtype
499085
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=499085
Chronic relapsing inflammatory optic neuropathy
Disease
499103
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=499103
Recurrent idiopathic neuroretinitis
Disease
499096
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=499096
Isolated optic neuritis
Disease
592885
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592885
Isolated optic neuritis without anti-MOG antibodies
Clinical subtype
592888
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592888
Isolated optic neuritis with anti-MOG antibodies
Clinical subtype
499107
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=499107
Idiopathic optic perineuritis
Disease
519339
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519339
Pseudopapilledema
Category
2980
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2980
Acrootoocular syndrome
Malformation syndrome
313800
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313800
Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome
Disease
637064
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=637064
Isolated optic nerve aplasia
Morphological anomaly
637061
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=637061
Isolated optic nerve hypoplasia
Morphological anomaly
98671
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98671
Hereditary optic neuropathy
Category
104
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104
Leber hereditary optic neuropathy
Disease
98672
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98672
Autosomal dominant optic atrophy
Clinical group
1215
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1215
Autosomal dominant optic atrophy plus syndrome
Disease
67036
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67036
Autosomal dominant optic atrophy and cataract
Disease
98673
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98673
Autosomal dominant optic atrophy, classic form
Disease
250932
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250932
Autosomal dominant optic atrophy and peripheral neuropathy
Disease
98676
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98676
Autosomal recessive isolated optic atrophy
Disease
99718
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99718
Leber plus disease
Disease
441434
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=441434
Syndromic hereditary optic neuropathy
Category
551
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=551
MERRF
Disease
3157
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3157
Septo-optic dysplasia spectrum
Malformation syndrome
521426
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521426
PLAA-associated neurodevelopmental disorder
Malformation syndrome
97249
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97249
Pontocerebellar hypoplasia type 3
Malformation syndrome
482606
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=482606
X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome
Malformation syndrome
457406
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457406
Multiple mitochondrial dysfunctions syndrome type 4
Disease
702
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=702
Pelizaeus-Merzbacher disease
Disease
280210
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280210
Pelizaeus-Merzbacher disease, connatal form
Clinical subtype
280219
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280219
Pelizaeus-Merzbacher disease, classic form
Clinical subtype
280224
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280224
Pelizaeus-Merzbacher disease, transitional form
Clinical subtype
280229
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280229
Pelizaeus-Merzbacher disease in female carriers
Clinical subtype
280234
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280234
Null syndrome
Clinical subtype
3463
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3463
Wolfram syndrome
Disease
2067
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2067
GAPO syndrome
Malformation syndrome
2836
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2836
PEHO syndrome
Disease
3078
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3078
Severe X-linked intellectual disability, Gustavson type
Malformation syndrome
1171
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1171
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Disease
52368
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52368
Mohr-Tranebjaerg syndrome
Disease
67047
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67047
3-methylglutaconic aciduria type 3
Disease
83472
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83472
CAMOS syndrome
Malformation syndrome
98890
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98890
Early-onset X-linked optic atrophy
Disease
99013
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99013
Spastic paraplegia type 7
Disease
99014
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99014
X-linked Charcot-Marie-Tooth disease type 5
Disease
99015
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99015
Spastic paraplegia type 2
Disease
289560
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289560
Mitochondrial membrane protein-associated neurodegeneration
Disease
329308
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329308
Fatty acid hydroxylase-associated neurodegeneration
Disease
352654
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352654
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
Disease
391677
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391677
Short stature-optic atrophy-Pelger-Huët anomaly syndrome
Malformation syndrome
401777
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401777
Optic atrophy-intellectual disability syndrome
Disease
411590
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411590
Wolfram-like syndrome
Disease
431320
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431320
Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder
Clinical group
320406
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320406
Spastic paraplegia-optic atrophy-neuropathy syndrome
Disease
431329
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431329
Autosomal recessive spastic paraplegia type 57
Disease
468661
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468661
Autosomal recessive spastic paraplegia type 74
Disease
320375
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320375
Autosomal recessive spastic paraplegia type 55
Disease
447896
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447896
Tremor-ataxia-central hypomyelination syndrome
Clinical subtype
512
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=512
Metachromatic leukodystrophy
Disease
309256
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309256
Metachromatic leukodystrophy, late infantile form
Clinical subtype
309263
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309263
Metachromatic leukodystrophy, juvenile form
Clinical subtype
309271
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309271
Metachromatic leukodystrophy, adult form
Clinical subtype
487
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487
Krabbe disease
Disease
206443
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206443
Late-infantile/juvenile Krabbe disease
Clinical subtype
206448
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206448
Adult Krabbe disease
Clinical subtype
206436
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206436
Infantile Krabbe disease
Clinical subtype
457205
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457205
Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome
Disease
508093
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508093
MEPAN syndrome
Malformation syndrome
495844
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495844
C11ORF73-related autosomal recessive hypomyelinating leukodystrophy
Disease
496641
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496641
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
Malformation syndrome
496790
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496790
Ocular anomalies-axonal neuropathy-developmental delay syndrome
Disease
497623
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497623
C12ORF65-related combined oxidative phosphorylation defect
Clinical group
254930
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254930
Combined oxidative phosphorylation defect type 7
Disease
320375
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320375
Autosomal recessive spastic paraplegia type 55
Disease
313850
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313850
Infantile cerebellar-retinal degeneration
Disease
227976
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227976
Autosomal recessive optic atrophy, OPA7 type
Disease
542585
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542585
Auditory neuropathy-optic atrophy syndrome
Disease
543470
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=543470
Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
Disease
97229
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97229
Riboflavin transporter deficiency
Malformation syndrome
572543
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572543
RFVT2-related riboflavin transporter deficiency
Clinical subtype
572550
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572550
RFVT3-related riboflavin transporter deficiency
Clinical subtype
64686
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64686
Tolosa-Hunt syndrome
Disease
98685
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98685
Rare oculomotor nerve disorder
Category
440221
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440221
Congenital oculomotor nerve palsy
Disease
519355
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519355
Rare ocular motility/alignment disorder
Category
519347
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519347
Rare neuromuscular disorder with ocular motility/alignment anomaly
Category
520820
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=520820
Progressive external ophthalmoplegia
Category
254892
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254892
Autosomal dominant progressive external ophthalmoplegia
Disease
254886
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254886
Autosomal recessive progressive external ophthalmoplegia
Disease
663
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=663
Mitochondrial DNA-related progressive external ophthalmoplegia
Disease
363677
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363677
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
Disease
352447
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352447
Progressive external ophthalmoplegia-myopathy-emaciation syndrome
Disease
329336
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329336
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Disease
480
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480
Kearns-Sayre syndrome
Disease
270
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=270
Oculopharyngeal muscular dystrophy
Disease
98897
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98897
Oculopharyngodistal myopathy
Disease
248111
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248111
Juvenile Huntington disease
Disease
399
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399
Huntington disease
Disease
98896
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98896
Duchenne muscular dystrophy
Disease
273
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=273
Steinert myotonic dystrophy
Disease
589824
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589824
Childhood-onset Steinert myotonic dystrophy
Clinical subtype
589827
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589827
Juvenile-onset Steinert myotonic dystrophy
Clinical subtype
589830
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589830
Adult-onset Steinert myotonic dystrophy
Clinical subtype
589833
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589833
Late-onset Steinert myotonic dystrophy
Clinical subtype
589821
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589821
Congenital-onset Steinert myotonic dystrophy
Clinical subtype
589
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589
Myasthenia gravis
Disease
391490
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391490
Adult-onset myasthenia gravis
Clinical subtype
391497
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391497
Juvenile myasthenia gravis
Clinical subtype
391504
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391504
Transient neonatal myasthenia gravis
Clinical subtype
1267
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1267
Botulism
Disease
254504
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254504
Inhalational botulism
Clinical subtype
228371
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228371
Foodborne botulism
Clinical subtype
230800
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230800
Toxin-mediated infectious botulism
Clinical subtype
178475
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178475
Wound botulism
Etiological subtype
178481
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178481
Intestinal botulism
Clinical subtype
178487
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178487
Adult intestinal botulism
Clinical subtype
178478
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178478
Infant botulism
Clinical subtype
254509
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254509
Iatrogenic botulism
Clinical subtype
1876
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1876
Oculogastrointestinal muscular dystrophy
Disease
298
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=298
Mitochondrial neurogastrointestinal encephalomyopathy
Disease
2743
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2743
Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome
Malformation syndrome
590
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=590
Congenital myasthenic syndrome
Disease
98913
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98913
Postsynaptic congenital myasthenic syndromes
Etiological subtype
98914
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98914
Presynaptic congenital myasthenic syndromes
Etiological subtype
98915
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98915
Synaptic congenital myasthenic syndromes
Etiological subtype
353327
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353327
Congenital myasthenic syndromes with glycosylation defect
Etiological subtype
98681
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98681
Rare disorder with strabismus
Category
98683
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98683
Syndromic disorder with strabismus
Category
79281
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79281
Alpha-N-acetylgalactosaminidase deficiency type 3
Clinical subtype
1064
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1064
Aniridia-renal agenesis-psychomotor retardation syndrome
Malformation syndrome
1129
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1129
Arachnodactyly-abnormal ossification-intellectual disability syndrome
Malformation syndrome
1188
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1188
Ataxia-deafness-intellectual disability syndrome
Malformation syndrome
100
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100
Ataxia-telangiectasia
Disease
2057
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2057
Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
Malformation syndrome
1246
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1246
Brachydactyly-nystagmus-cerebellar ataxia syndrome
Malformation syndrome
50815
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50815
Branchiogenic deafness syndrome
Malformation syndrome
175
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=175
Cartilage-hair hypoplasia
Disease
1381
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1381
Cataract-intellectual disability-anal atresia-urinary defects syndrome
Malformation syndrome
85278
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85278
Christianson syndrome
Malformation syndrome
190
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=190
Coats disease
Disease
1369
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1369
Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
Disease
1548
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1548
Cryptorchidism-arachnodactyly-intellectual disability syndrome
Malformation syndrome
2674
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2674
Cyprus facial-neuromusculoskeletal syndrome
Malformation syndrome
3214
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3214
Deaf blind hypopigmentation syndrome, Yemenite type
Malformation syndrome
3038
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3038
Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome
Malformation syndrome
50817
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50817
Duane anomaly-myopathy-scoliosis syndrome
Disease
77260
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77260
Gaucher disease type 2
Clinical subtype
99803
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99803
Haddad syndrome
Malformation syndrome
2163
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2163
Holoprosencephaly-craniosynostosis syndrome
Malformation syndrome
2307
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2307
IVIC syndrome
Malformation syndrome
1313
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1313
Infantile choroidocerebral calcification syndrome
Disease
2968
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2968
Leukocyte adhesion deficiency
Disease
99842
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99842
Leukocyte adhesion deficiency type I
Clinical subtype
99843
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99843
Leukocyte adhesion deficiency type II
Clinical subtype
99844
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99844
Leukocyte adhesion deficiency type III
Clinical subtype
559
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=559
Marinesco-Sjögren syndrome
Disease
2471
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2471
McDonough syndrome
Malformation syndrome
2511
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2511
Microbrachycephaly-ptosis-cleft lip syndrome
Malformation syndrome
33445
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33445
Neuroectodermal melanolysosomal disease
Malformation syndrome
908
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=908
Fragile X syndrome
Malformation syndrome
2744
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2744
Horizontal gaze palsy with progressive scoliosis
Disease
2557
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2557
Mietens syndrome
Malformation syndrome
77301
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77301
Monosomy 9q22.3
Malformation syndrome
35737
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35737
Morning glory disc anomaly
Morphological anomaly
578
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=578
Mucolipidosis type IV
Disease
588
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=588
Muscle-eye-brain disease
Malformation syndrome
272
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=272
Congenital muscular dystrophy, Fukuyama type
Malformation syndrome
861
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=861
Treacher-Collins syndrome
Malformation syndrome
570
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570
Moebius syndrome
Disease
45358
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=45358
Congenital fibrosis of extraocular muscles
Disease
93293
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93293
Okihiro syndrome
Malformation syndrome
261638
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261638
Okihiro syndrome due to 20q13 microdeletion
Etiological subtype
261647
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261647
Okihiro syndrome due to a point mutation
Etiological subtype
98684
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98684
Craniostenosis with strabismus
Category
710
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=710
Pfeiffer syndrome
Malformation syndrome
93258
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93258
Pfeiffer syndrome type 1
Clinical subtype
93259
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93259
Pfeiffer syndrome type 2
Clinical subtype
93260
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93260
Pfeiffer syndrome type 3
Clinical subtype
794
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=794
Saethre-Chotzen syndrome
Malformation syndrome
207
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207
Crouzon syndrome
Malformation syndrome
87
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87
Apert syndrome
Malformation syndrome
3366
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3366
Non-syndromic metopic craniosynostosis
Morphological anomaly
35093
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35093
Non-syndromic sagittal craniosynostosis
Morphological anomaly
35099
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35099
Non-syndromic bicoronal craniosynostosis
Morphological anomaly
93262
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93262
Crouzon syndrome-acanthosis nigricans syndrome
Malformation syndrome
363528
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363528
Intellectual disability-strabismus syndrome
Disease
436141
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436141
Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome
Malformation syndrome
228399
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228399
8q12 microduplication syndrome
Malformation syndrome
228390
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228390
Frontonasal dysplasia-alopecia-genital anomalies syndrome
Malformation syndrome
3052
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3052
X-linked intellectual disability-seizures-psoriasis syndrome
Disease
3055
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3055
X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome
Malformation syndrome
2963
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2963
Progeroid syndrome, Petty type
Malformation syndrome
3474
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3474
CHIME syndrome
Malformation syndrome
1568
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1568
X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome
Malformation syndrome
44
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=44
Neonatal adrenoleukodystrophy
Disease
1581
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1581
Non-distal deletion 10q
Malformation syndrome
2715
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2715
Severe oculo-renal-cerebellar syndrome
Malformation syndrome
2999
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2999
Ptosis-strabismus-ectopic pupils syndrome
Malformation syndrome
3010
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3010
Qazi-Markouizos syndrome
Disease
3026
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3026
Radial ray hypoplasia-choanal atresia syndrome
Malformation syndrome
799
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=799
Schizencephaly
Disease
481986
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481986
Familial schizencephaly
Etiological subtype
485275
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485275
Acquired schizencephaly
Etiological subtype
2804
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2804
W syndrome
Malformation syndrome
35612
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35612
Nanophthalmos
Malformation syndrome
79434
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79434
Oculocutaneous albinism type 1B
Clinical subtype
79435
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79435
Oculocutaneous albinism type 4
Disease
85283
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85283
X-linked intellectual disability, Miles-Carpenter type
Malformation syndrome
562559
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562559
Anterior maxillary protrusion-strabismus-intellectual disability syndrome
Malformation syndrome
467176
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=467176
Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
Disease
522077
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522077
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
Disease
2713
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2713
Oculoosteocutaneous syndrome
Malformation syndrome
73246
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73246
Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome
Malformation syndrome
3270
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3270
Radioulnar synostosis-developmental delay-hypotonia syndrome
Malformation syndrome
3293
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3293
Telecanthus-hypertelorism-strabismus-pes cavus syndrome
Malformation syndrome
519343
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519343
Rare ophthalmic disorder with cortical involvement
Category
550
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=550
MELAS
Disease
2512
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2512
Autosomal recessive primary microcephaly
Etiological subtype
98688
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98688
Oculomotor apraxia
Category
1125
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1125
Ocular motor apraxia, Cogan type
Disease
505242
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505242
Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
Disease
370022
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370022
Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
Disease
77261
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77261
Gaucher disease type 3
Clinical subtype
2072
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2072
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Clinical subtype
459033
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459033
Ataxia-oculomotor apraxia type 4
Disease
363722
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363722
Alexander disease type II
Clinical subtype
411986
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411986
Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
Malformation syndrome
477814
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477814
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
Malformation syndrome
447788
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447788
Cerebral visual impairment
Clinical syndrome
457351
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457351
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
Malformation syndrome
420556
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420556
Visual snow syndrome
Disease
488613
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488613
Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome
Malformation syndrome
488642
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488642
TELO2-related intellectual disability-neurodevelopmental disorder
Malformation syndrome
480898
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480898
Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
Disease
1389
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1389
Cortical blindness-intellectual disability-polydactyly syndrome
Malformation syndrome
519341
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519341
Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature
Category
529574
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529574
Duane retraction syndrome with congenital deafness
Malformation syndrome
702
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=702
Pelizaeus-Merzbacher disease
Disease
280210
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280210
Pelizaeus-Merzbacher disease, connatal form
Clinical subtype
280219
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280219
Pelizaeus-Merzbacher disease, classic form
Clinical subtype
280224
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280224
Pelizaeus-Merzbacher disease, transitional form
Clinical subtype
280229
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280229
Pelizaeus-Merzbacher disease in female carriers
Clinical subtype
280234
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280234
Null syndrome
Clinical subtype
99027
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99027
Adult-onset autosomal dominant leukodystrophy
Disease
1183
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1183
Opsoclonus-myoclonus syndrome
Disease
77261
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77261
Gaucher disease type 3
Clinical subtype
279882
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279882
Spasmus nutans
Clinical syndrome
79255
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79255
GM1 gangliosidosis type 1
Clinical subtype
79256
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79256
GM1 gangliosidosis type 2
Clinical subtype
98755
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98755
Spinocerebellar ataxia type 1
Disease
98756
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98756
Spinocerebellar ataxia type 2
Disease
140874
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140874
Joubert syndrome and related disorders
Category
397715
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397715
Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Malformation syndrome
220497
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220497
Joubert syndrome with renal defect
Malformation syndrome
220493
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220493
Joubert syndrome with ocular defect
Malformation syndrome
2754
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2754
Orofaciodigital syndrome type 6
Malformation syndrome
1454
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1454
Joubert syndrome with hepatic defect
Disease
475
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=475
Joubert syndrome
Malformation syndrome
2318
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2318
Joubert syndrome with oculorenal defect
Malformation syndrome
1168
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1168
Ataxia-oculomotor apraxia type 1
Disease
64753
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64753
Spinocerebellar ataxia with axonal neuropathy type 2
Disease
98687
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98687
Supranuclear eye movement disorder
Category
94147
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94147
Spinocerebellar ataxia type 7
Disease
306674
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306674
Kufor-Rakeb syndrome
Disease
905
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=905
Wilson disease
Disease
506
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506
Leigh syndrome
Disease
683
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=683
Progressive supranuclear palsy
Disease
99750
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99750
Atypical progressive supranuclear palsy syndrome
Clinical subtype
240085
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240085
Progressive supranuclear palsy-parkinsonism syndrome
Clinical subtype
240094
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240094
Progressive supranuclear palsy-pure akinesia with gait freezing syndrome
Clinical subtype
240103
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240103
Progressive supranuclear palsy-corticobasal syndrome
Clinical subtype
240112
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240112
Progressive supranuclear palsy-progressive non-fluent aphasia syndrome
Clinical subtype
240071
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240071
Classic progressive supranuclear palsy syndrome
Clinical subtype
646
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646
Niemann-Pick disease type C
Disease
216972
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216972
Niemann-Pick disease type C, severe perinatal form
Clinical subtype
216975
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216975
Niemann-Pick disease type C, severe early infantile neurologic onset
Clinical subtype
216978
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216978
Niemann-Pick disease type C, late infantile neurologic onset
Clinical subtype
216981
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216981
Niemann-Pick disease type C, juvenile neurologic onset
Clinical subtype
216986
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216986
Niemann-Pick disease type C, adult neurologic onset
Clinical subtype
70472
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70472
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Disease
233
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=233
Duane retraction syndrome
Malformation syndrome
95
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95
Friedreich ataxia
Disease
100
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100
Ataxia-telangiectasia
Disease
519298
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519298
Rare scleral disorder
Category
648559
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648559
Rare scleritis
Clinical group
648681
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648681
Immune-mediated scleritis
Disease
648675
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648675
Idiopathic scleritis
Disease
648665
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648665
Infectious scleritis
Disease
519296
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519296
Rare disorder with pigmented sclera
Category
2772
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2772
Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
Malformation syndrome
1900
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1900
Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
Clinical subtype
56
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56
Alkaptonuria
Disease
2186
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2186
Hydrocephalus-blue sclerae-nephropathy syndrome
Malformation syndrome
216796
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216796
Osteogenesis imperfecta type 1
Clinical subtype
216804
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216804
Osteogenesis imperfecta type 2
Clinical subtype
216812
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216812
Osteogenesis imperfecta type 3
Clinical subtype
216820
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216820
Osteogenesis imperfecta type 4
Clinical subtype
52047
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52047
Braddock syndrome
Malformation syndrome
175
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=175
Cartilage-hair hypoplasia
Disease
2050
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2050
Cole-Carpenter syndrome
Malformation syndrome
1865
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1865
Dyssegmental dysplasia, Silverman-Handmaker type
Disease
157965
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157965
SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome
Clinical subtype
2097
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2097
Grant syndrome
Malformation syndrome
2101
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2101
Grubben-de Cock-Borghgraef syndrome
Malformation syndrome
66633
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66633
Sensorineural hearing loss-early graying-essential tremor syndrome
Disease
813
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=813
Silver-Russell syndrome
Disease
96182
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96182
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
Etiological subtype
231137
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231137
Silver-Russell syndrome due to 7p11.2p13 microduplication
Etiological subtype
231140
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231140
Silver-Russell syndrome due to an imprinting defect of 11p15
Etiological subtype
231147
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231147
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
Etiological subtype
397590
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397590
Silver-Russell syndrome due to a point mutation
Etiological subtype
231144
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231144
Silver-Russell syndrome due to 11p15 microduplication
Etiological subtype
2475
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2475
White forelock with malformations
Malformation syndrome
2484
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2484
Melnick-Needles syndrome
Malformation syndrome
98715
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98715
Uveitis
Category
279914
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279914
Intermediate uveitis
Disease
280886
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280886
Anterior uveitis
Category
279922
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279922
Infectious anterior uveitis
Disease
280926
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280926
Systemic diseases with anterior uveitis
Category
379
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=379
Chronic granulomatous disease
Disease
117
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=117
Behçet disease
Disease
797
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=797
Sarcoidosis
Disease
1451
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1451
CINCA syndrome
Disease
85408
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85408
Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
Disease
85410
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85410
Oligoarticular juvenile idiopathic arthritis
Disease
85438
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85438
Enthesitis-related juvenile idiopathic arthritis
Disease
90340
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90340
Blau syndrome
Disease
91500
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91500
Tubulointerstitial nephritis and uveitis syndrome
Disease
306648
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306648
Non-infectious anterior uveitis
Category
79098
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79098
Sympathetic ophthalmia
Disease
209959
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209959
Phacoanaphylactic uveitis
Disease
263479
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263479
Fuchs heterochromic iridocyclitis
Disease
280892
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280892
Posterior uveitis
Category
90061
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90061
Non-infectious posterior uveitis
Category
179
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=179
Birdshot chorioretinopathy
Disease
35686
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35686
Serpiginous choroiditis
Disease
279928
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279928
Paraneoplastic uveitis
Disease
280917
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280917
Idiopathic posterior uveitis
Disease
580951
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580951
Punctate inner choroidopathy
Disease
279919
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279919
Infectious posterior uveitis
Disease
280930
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280930
Systemic diseases with posterior uveitis
Category
379
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=379
Chronic granulomatous disease
Disease
117
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=117
Behçet disease
Disease
797
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=797
Sarcoidosis
Disease
280898
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280898
Panuveitis
Category
3437
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3437
Vogt-Koyanagi-Harada disease
Disease
209956
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209956
Idiopathic uveal effusion syndrome
Disease
279925
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279925
Infectious panuveitis
Disease
280921
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280921
Idiopathic panuveitis
Disease
280933
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280933
Systemic diseases with panuveitis
Category
379
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=379
Chronic granulomatous disease
Disease
117
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=117
Behçet disease
Disease
797
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=797
Sarcoidosis
Disease
90340
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90340
Blau syndrome
Disease
519311
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519311
Rare disorder of the posterior segment of the eye
Category
98942
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98942
Coloboma of choroid and retina
Morphological anomaly
519309
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519309
Rare choroidal disorder
Category
139450
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139450
Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome
Malformation syndrome
209956
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209956
Idiopathic uveal effusion syndrome
Disease
519300
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519300
Isolated chorioretinal dystrophy
Category
41751
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=41751
Bietti crystalline dystrophy
Disease
180
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180
Choroideremia
Disease
1884
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1884
Ectopia lentis-chorioretinal dystrophy-myopia syndrome
Disease
59181
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59181
Sorsby pseudoinflammatory fundus dystrophy
Disease
75373
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75373
Progressive bifocal chorioretinal atrophy
Disease
75377
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75377
Central areolar choroidal dystrophy
Disease
86813
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86813
Helicoid peripapillary chorioretinal degeneration
Disease
251295
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251295
Pigmented paravenous retinochoroidal atrophy
Disease
443079
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443079
Central serous chorioretinopathy
Disease
519321
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519321
Syndromic chorioretinal dystrophy
Category
2518
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2518
Autosomal recessive chorioretinopathy-microcephaly syndrome
Malformation syndrome
1435
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1435
Xq21 microdeletion syndrome
Malformation syndrome
2526
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2526
Microcephaly-lymphedema-chorioretinopathy syndrome
Malformation syndrome
369970
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369970
Microcornea-myopic chorioretinal atrophy-telecanthus syndrome
Disease
3417
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3417
Van den Bosch syndrome
Malformation syndrome
50
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50
Aicardi syndrome
Disease
1180
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1180
Ataxia-hypogonadism-choroidal dystrophy syndrome
Disease
1433
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1433
Choroidal atrophy-alopecia syndrome
Malformation syndrome
580951
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580951
Punctate inner choroidopathy
Disease
519315
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519315
Rare retinal disorder
Category
488239
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488239
Acute macular neuroretinopathy
Disease
209867
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209867
Autosomal dominant rhegmatogenous retinal detachment
Disease
519317
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519317
Rare retinal vasculopathy
Category
190
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=190
Coats disease
Disease
891
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=891
Familial exudative vitreoretinopathy
Disease
40923
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=40923
Eales disease
Disease
838
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=838
Susac syndrome
Disease
648684
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648684
Central retinal artery occlusion
Disease
247691
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247691
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Disease
329211
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329211
Autosomal dominant neovascular inflammatory vitreoretinopathy
Disease
313838
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313838
Coats plus syndrome
Disease
482092
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=482092
Rare idiopathic macular telangiectasia
Category
353344
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353344
Idiopathic macular telangiectasia type 1
Disease
353351
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353351
Idiopathic macular telangiectasia type 3
Disease
284247
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284247
Familial retinal arterial macroaneurysm
Malformation syndrome
353334
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353334
Congenital retinal arteriovenous communication
Morphological anomaly
506307
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506307
Stromme syndrome
Malformation syndrome
411527
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411527
Central retinal vein occlusion
Particular clinical situation in a disease or syndrome
71213
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71213
Retinal capillary malformation
Disease
90050
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90050
Retinopathy of prematurity
Disease
209943
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209943
IRVAN syndrome
Disease
136
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=136
Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy
Disease
284454
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284454
Acute zonal occult outer retinopathy
Disease
284460
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284460
Acute annular outer retinopathy
Disease
279894
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279894
Toxic maculopathy due to antimalarial drugs
Disease
519313
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519313
Rare macular disorder
Category
178493
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178493
Myopic macular degeneration
Disease
98945
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98945
Coloboma of macula
Morphological anomaly
353344
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353344
Idiopathic macular telangiectasia type 1
Disease
353351
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353351
Idiopathic macular telangiectasia type 3
Disease
519398
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519398
Isolated foveal hypoplasia
Morphological anomaly
97341
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97341
Persistent placoid maculopathy
Disease
75374
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75374
Bradyopsia
Disease
71862
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71862
Inherited retinal disorder
Category
520817
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=520817
Isolated inherited retinal disorder
Category
519319
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519319
Isolated stationary inherited retinal disorder
Category
827
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=827
Stargardt disease
Disease
215
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=215
Congenital stationary night blindness
Disease
75382
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75382
Oguchi disease
Malformation syndrome
227796
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227796
Fundus albipunctatus
Disease
49382
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49382
Achromatopsia
Disease
16
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=16
Blue cone monochromatism
Disease
75378
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75378
Oligocone trichromacy
Disease
90001
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90001
X-linked cone dysfunction syndrome with myopia
Disease
41751
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=41751
Bietti crystalline dystrophy
Disease
75376
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75376
Familial drusen
Disease
99179
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99179
Kandori fleck retina
Malformation syndrome
363989
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363989
Familial benign flecked retina
Disease
519306
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519306
Isolated progressive inherited retinal disorder
Category
65
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65
Leber congenital amaurosis
Disease
53540
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53540
Goldmann-Favre syndrome
Disease
85128
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85128
Bothnia retinal dystrophy
Disease
139455
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139455
Autosomal recessive bestrophinopathy
Disease
178333
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178333
Åland Islands eye disease
Disease
209932
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209932
Cone dystrophy with supernormal rod response
Disease
364055
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364055
Severe early-childhood-onset retinal dystrophy
Disease
488197
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488197
Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome
Disease
67042
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67042
Late-onset retinal degeneration
Disease
519302
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519302
Isolated macular dystrophy
Category
827
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=827
Stargardt disease
Disease
1243
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1243
Best vitelliform macular dystrophy
Disease
63454
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63454
Pattern dystrophy
Category
99001
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99001
Butterfly-shaped pigment dystrophy
Disease
99002
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99002
Reticular dystrophy of the retinal pigment epithelium
Disease
99003
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99003
Multifocal pattern dystrophy simulating fundus flavimaculatus
Disease
99004
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99004
Fundus pulverulentus
Disease
99000
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99000
Adult-onset foveomacular vitelliform dystrophy
Disease
59181
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59181
Sorsby pseudoinflammatory fundus dystrophy
Disease
75327
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75327
North Carolina macular dystrophy
Disease
75377
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75377
Central areolar choroidal dystrophy
Disease
251287
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251287
Benign concentric annular macular dystrophy
Disease
319640
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319640
Retinal macular dystrophy type 2
Disease
247834
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247834
Occult macular dystrophy
Disease
75381
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75381
Cystoid macular dystrophy
Disease
653709
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653709
Cone rod dystrophy-short stature syndrome
Disease
791
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=791
Retinitis pigmentosa
Disease
1872
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1872
Cone rod dystrophy
Disease
1871
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1871
Progressive cone dystrophy
Disease
52427
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52427
Retinitis punctata albescens
Disease
519325
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519325
Syndromic inherited retinal disorder
Category
79665
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79665
Gardner syndrome
Clinical subtype
845
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=845
Tay-Sachs disease
Disease
309178
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309178
Tay-Sachs disease, infantile form
Clinical subtype
309192
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309192
Tay-Sachs disease, adult form
Clinical subtype
309185
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309185
Tay-Sachs disease, juvenile form
Clinical subtype
77292
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77292
Infantile neurovisceral acid sphingomyelinase deficiency
Disease
77259
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77259
Gaucher disease type 1
Clinical subtype
225
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225
Maternally-inherited diabetes and deafness
Disease
758
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=758
Pseudoxanthoma elasticum
Disease
79262
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79262
Adult neuronal ceroid lipofuscinosis
Disease
79263
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79263
Infantile neuronal ceroid lipofuscinosis
Disease
263516
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263516
Progressive myoclonic epilepsy type 3
Clinical subtype
168486
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168486
Congenital neuronal ceroid lipofuscinosis
Disease
79264
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79264
Juvenile neuronal ceroid lipofuscinosis
Disease
168491
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168491
Late infantile neuronal ceroid lipofuscinosis
Disease
171844
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171844
Blindness-scoliosis-arachnodactyly syndrome
Malformation syndrome
91496
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91496
Snowflake vitreoretinal degeneration
Disease
1571
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1571
Knobloch syndrome
Malformation syndrome
93598
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93598
Primary hyperoxaluria type 1
Clinical subtype
85167
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85167
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
Disease
64
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64
Alström syndrome
Disease
79255
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79255
GM1 gangliosidosis type 1
Clinical subtype
1573
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1573
Hypotrichosis with juvenile macular degeneration
Malformation syndrome
250977
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250977
AICA-ribosiduria
Disease
3088
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3088
Revesz syndrome
Malformation syndrome
2518
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2518
Autosomal recessive chorioretinopathy-microcephaly syndrome
Malformation syndrome
2526
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2526
Microcephaly-lymphedema-chorioretinopathy syndrome
Malformation syndrome
1021
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1021
Amaurosis-hypertrichosis syndrome
Disease
48818
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48818
Aceruloplasminemia
Disease
75858
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75858
MORM syndrome
Disease
220493
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220493
Joubert syndrome with ocular defect
Malformation syndrome
1995
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1995
Cleft lip-retinopathy syndrome
Malformation syndrome
157850
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157850
Pantothenate kinase-associated neurodegeneration
Disease
216866
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216866
Classic pantothenate kinase-associated neurodegeneration
Clinical subtype
216873
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216873
Atypical pantothenate kinase-associated neurodegeneration
Clinical subtype
1117
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1117
Aplasia cutis-myopia syndrome
Disease
1180
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1180
Ataxia-hypogonadism-choroidal dystrophy syndrome
Disease
2246
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2246
Cerebellar hypoplasia-tapetoretinal degeneration syndrome
Malformation syndrome
1051
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1051
Ramos-Arroyo syndrome
Malformation syndrome
1873
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1873
Jalili syndrome
Malformation syndrome
2715
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2715
Severe oculo-renal-cerebellar syndrome
Malformation syndrome
98661
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98661
Syndromic rod-cone dystrophy
Category
171848
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171848
Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome
Disease
247522
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247522
Primary ciliary dyskinesia-retinitis pigmentosa syndrome
Disease
314572
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314572
Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome
Disease
436245
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436245
Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
Disease
436274
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436274
Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa
Disease
166035
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166035
Brachydactyly-short stature-retinitis pigmentosa syndrome
Malformation syndrome
220295
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220295
Xeroderma pigmentosum-Cockayne syndrome complex
Disease
480
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480
Kearns-Sayre syndrome
Disease
3085
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3085
Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
Malformation syndrome
193
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=193
Cohen syndrome
Malformation syndrome
2377
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2377
Laurence-Moon syndrome
Malformation syndrome
191
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=191
Cockayne syndrome
Disease
1466
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1466
COFS syndrome
Clinical subtype
90321
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90321
Cockayne syndrome type 1
Clinical subtype
90322
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90322
Cockayne syndrome type 2
Clinical subtype
90324
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90324
Cockayne syndrome type 3
Clinical subtype
886
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=886
Usher syndrome
Disease
231183
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231183
Usher syndrome type 3
Clinical subtype
231169
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231169
Usher syndrome type 1
Clinical subtype
231178
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231178
Usher syndrome type 2
Clinical subtype
2235
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2235
Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome
Disease
2579
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2579
Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome
Disease
2718
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2718
Oculotrichodysplasia
Malformation syndrome
3011
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3011
Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
Disease
2653
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2653
Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome
Malformation syndrome
110
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=110
Bardet-Biedl syndrome
Disease
140969
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140969
Saldino-Mainzer syndrome
Disease
140976
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140976
RHYNS syndrome
Disease
263347
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263347
MRCS syndrome
Disease
79282
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79282
Methylmalonic acidemia with homocystinuria, type cblC
Clinical subtype
1515
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1515
Cranioectodermal dysplasia
Malformation syndrome
1574
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1574
Retinal degeneration-nanophthalmos-glaucoma syndrome
Malformation syndrome
85332
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85332
X-linked intellectual disability-retinitis pigmentosa syndrome
Disease
494439
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494439
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
Malformation syndrome
14
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=14
Abetalipoproteinemia
Disease
1415
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1415
Cholestasis-pigmentary retinopathy-cleft palate syndrome
Malformation syndrome
773
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=773
Refsum disease
Disease
5
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=5
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Disease
96
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96
Ataxia with vitamin E deficiency
Disease
644
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=644
NARP syndrome
Disease
79189
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79189
Peroxisome biogenesis disorder
Clinical group
772
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=772
Infantile Refsum disease
Disease
912
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=912
Zellweger syndrome
Disease
44
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=44
Neonatal adrenoleukodystrophy
Disease
168549
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168549
Axial spondylometaphyseal dysplasia
Disease
2196
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2196
Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
Clinical subtype
3156
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3156
Senior-Loken syndrome
Disease
1264
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1264
Tricho-retino-dento-digital syndrome
Malformation syndrome
3363
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3363
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Malformation syndrome
796
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=796
Sandhoff disease
Disease
309169
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309169
Sandhoff disease, adult form
Clinical subtype
309162
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309162
Sandhoff disease, juvenile form
Clinical subtype
309155
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309155
Sandhoff disease, infantile form
Clinical subtype
828
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=828
Stickler syndrome
Disease
90653
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90653
Stickler syndrome type 1
Clinical subtype
90654
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90654
Stickler syndrome type 2
Clinical subtype
250984
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250984
Autosomal recessive Stickler syndrome
Clinical subtype
313800
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313800
Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome
Disease
309294
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309294
Sialidosis
Clinical group
87876
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87876
Sialidosis type 2
Disease
93399
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93399
Juvenile sialidosis type 2
Clinical subtype
93400
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93400
Congenital sialidosis type 2
Clinical subtype
812
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=812
Sialidosis type 1
Disease
397758
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397758
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
Disease
423479
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423479
X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
Disease
466718
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466718
Martinique crinkled retinal pigment epitheliopathy
Disease
352718
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352718
Progressive retinal dystrophy due to retinol transport defect
Disease
313850
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313850
Infantile cerebellar-retinal degeneration
Disease
351
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=351
Galactosialidosis
Disease
816
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=816
Sjögren-Larsson syndrome
Disease
2318
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2318
Joubert syndrome with oculorenal defect
Malformation syndrome
141007
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141007
Orofaciodigital syndrome type 9
Malformation syndrome
50
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50
Aicardi syndrome
Disease
519323
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519323
Syndromic macular dystrophy
Category
1471
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1471
Coloboma of macula-brachydactyly type B syndrome
Malformation syndrome
1897
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1897
EEM syndrome
Malformation syndrome
2196
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2196
Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
Clinical subtype
91494
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91494
Macular coloboma-cleft palate-hallux valgus syndrome
Malformation syndrome
333
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=333
Farber disease
Disease
578
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=578
Mucolipidosis type IV
Disease
589442
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589442
Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome
Malformation syndrome
603694
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603694
KLHL7-related Crisponi/cold-induced sweating-like syndrome
Disease
603684
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603684
KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome
Malformation syndrome
611207
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611207
Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome
Clinical syndrome
1852
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1852
X-linked retinal dysplasia
Disease
71505
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71505
Cancer-associated retinopathy
Disease
98668
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98668
Vitreoretinopathy
Category
519304
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519304
Isolated vitreoretinopathy
Category
190
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=190
Coats disease
Disease
3086
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3086
Autosomal dominant vitreoretinochoroidopathy
Disease
891
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=891
Familial exudative vitreoretinopathy
Disease
898
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=898
Wagner disease
Disease
53540
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53540
Goldmann-Favre syndrome
Disease
91495
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91495
Persistent hyperplastic primary vitreous
Disease
329211
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329211
Autosomal dominant neovascular inflammatory vitreoretinopathy
Disease
91496
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91496
Snowflake vitreoretinal degeneration
Disease
519327
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519327
Syndromic vitreoretinopathy
Category
649
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=649
Norrie disease
Malformation syndrome
3378
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3378
Trisomy 13
Malformation syndrome
2788
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2788
Osteoporosis-pseudoglioma syndrome
Disease
85194
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85194
Spondylo-ocular syndrome
Malformation syndrome
313838
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313838
Coats plus syndrome
Disease
464
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464
Incontinentia pigmenti
Malformation syndrome
899
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=899
Walker-Warburg syndrome
Disease
828
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=828
Stickler syndrome
Disease
90653
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90653
Stickler syndrome type 1
Clinical subtype
90654
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90654
Stickler syndrome type 2
Clinical subtype
250984
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250984
Autosomal recessive Stickler syndrome
Clinical subtype
1571
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1571
Knobloch syndrome
Malformation syndrome
519329
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519329
Rare disorder involving multiple structures of the eye
Category
617449
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617449
Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome
Disease
141132
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141132
Oculo-auriculo-vertebral spectrum
Malformation syndrome
98706
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98706
Oculocutaneous or ocular albinism
Category
55
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55
Oculocutaneous albinism
Clinical group
79432
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79432
Oculocutaneous albinism type 2
Disease
79433
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79433
Oculocutaneous albinism type 3
Disease
79435
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79435
Oculocutaneous albinism type 4
Disease
352731
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352731
Oculocutaneous albinism type 1
Disease
79431
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79431
Oculocutaneous albinism type 1A
Clinical subtype
79434
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79434
Oculocutaneous albinism type 1B
Clinical subtype
352734
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352734
Minimal pigment oculocutaneous albinism type 1
Clinical subtype
352737
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352737
Temperature-sensitive oculocutaneous albinism type 1
Clinical subtype
352745
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352745
Oculocutaneous albinism type 7
Disease
370091
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370091
Oculocutaneous albinism type 5
Disease
370097
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370097
Oculocutaneous albinism type 6
Disease
597733
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597733
Oculocutaneous albinism type 8
Disease
284804
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284804
Ocular albinism
Clinical group
1000
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1000
Ocular albinism with late-onset sensorineural deafness
Disease
54
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54
X-linked recessive ocular albinism
Disease
284811
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284811
Syndromic oculocutaneous albinism
Category
603494
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603494
Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome
Malformation syndrome
167
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167
Chédiak-Higashi syndrome
Disease
381
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=381
Griscelli syndrome
Disease
79476
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79476
Griscelli syndrome type 1
Clinical subtype
79477
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79477
Griscelli syndrome type 2
Clinical subtype
79478
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79478
Griscelli syndrome type 3
Clinical subtype
2719
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2719
Oculocerebral hypopigmentation syndrome, Cross type
Malformation syndrome
79430
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79430
Hermansky-Pudlak syndrome
Disease
183678
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183678
Hermansky-Pudlak syndrome due to AP-3 deficiency
Clinical subtype
231500
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231500
Hermansky-Pudlak syndrome due to BLOC-3 deficiency
Clinical subtype
231512
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231512
Hermansky-Pudlak syndrome due to BLOC-2 deficiency
Clinical subtype
231531
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231531
Hermansky-Pudlak syndrome due to BLOC-1 deficiency
Clinical subtype
2720
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2720
Oculocerebral hypopigmentation syndrome, Preus type
Malformation syndrome
199323
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199323
Endophthalmitis
Disease
279888
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279888
Acute endophthalmitis
Clinical subtype
279891
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279891
Chronic endophthalmitis
Clinical subtype
449563
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449563
IgG4-related ophthalmic disease
Clinical subtype
523000
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=523000
Pediatric-onset glaucoma
Category
156005
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156005
Primary early-onset glaucoma
Clinical group
98976
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98976
Congenital glaucoma
Disease
98977
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98977
Juvenile glaucoma
Disease
519331
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519331
Secondary early-onset glaucoma
Category
98631
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98631
Congenital malformation of the eye with glaucoma as a major feature
Category
792
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=792
X-linked retinoschisis
Malformation syndrome
35612
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35612
Nanophthalmos
Malformation syndrome
190
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=190
Coats disease
Disease
98634
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98634
Anterior segment developmental anomaly without extraocular manifestations
Category
69736
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69736
Bilateral acute depigmentation of the iris
Disease
98978
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98978
Axenfeld anomaly
Morphological anomaly
708
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=708
Peters anomaly
Morphological anomaly
519388
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519388
Autosomal recessive anterior segment dysgenesis
Malformation syndrome
250923
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250923
Isolated aniridia
Morphological anomaly
91483
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91483
Rieger anomaly
Morphological anomaly
566
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566
Congenital microcoria
Malformation syndrome
91491
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91491
Congenital ectropion uveae
Malformation syndrome
98944
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98944
Coloboma of iris
Morphological anomaly
488197
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488197
Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome
Disease
519392
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519392
Isolated iridoschisis
Disease
64734
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64734
Iridocorneal endothelial syndrome
Disease
98979
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98979
Chandler syndrome
Clinical subtype
98980
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98980
Cogan-Reese syndrome
Clinical subtype
98981
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98981
Essential iris atrophy
Clinical subtype
98973
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98973
Posterior polymorphous corneal dystrophy
Disease
238763
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238763
Glaucoma secondary to spherophakia/ectopia lentis and megalocornea
Malformation syndrome
94058
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94058
Neovascular glaucoma
Particular clinical situation in a disease or syndrome
98638
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98638
Rare disease with glaucoma as a major feature
Category
1064
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1064
Aniridia-renal agenesis-psychomotor retardation syndrome
Malformation syndrome
1069
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1069
Aniridia-absent patella syndrome
Malformation syndrome
1259
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1259
Blepharoptosis-myopia-ectopia lentis syndrome
Disease
1425
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1425
Desbuquois syndrome
Malformation syndrome
892
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=892
Von Hippel-Lindau disease
Disease
534
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=534
Oculocerebrorenal syndrome of Lowe
Malformation syndrome
783
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=783
Rubinstein-Taybi syndrome
Malformation syndrome
353277
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353277
Rubinstein-Taybi syndrome due to CREBBP mutations
Etiological subtype
353281
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353281
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Etiological subtype
353284
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353284
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Etiological subtype
394
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=394
Homocystinuria due to cystathionine beta-synthase deficiency
Disease
893
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=893
WAGR syndrome
Malformation syndrome
560
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=560
Marshall syndrome
Malformation syndrome
3205
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3205
Sturge-Weber syndrome
Malformation syndrome
828
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=828
Stickler syndrome
Disease
90653
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90653
Stickler syndrome type 1
Clinical subtype
90654
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90654
Stickler syndrome type 2
Clinical subtype
250984
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250984
Autosomal recessive Stickler syndrome
Clinical subtype
709
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=709
Peters plus syndrome
Malformation syndrome
2409
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2409
Lowry-MacLean syndrome
Malformation syndrome
2556
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2556
Microphthalmia with linear skin defects syndrome
Malformation syndrome
2712
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2712
Oculofaciocardiodental syndrome
Malformation syndrome
2875
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2875
Phakomatosis pigmentovascularis
Disease
79483
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79483
Phakomatosis cesioflammea
Clinical subtype
79484
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79484
Phakomatosis cesiomarmorata
Clinical subtype
79485
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79485
Phakomatosis spilorosea
Clinical subtype
3163
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3163
SHORT syndrome
Malformation syndrome
3449
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3449
Weill-Marchesani syndrome
Malformation syndrome
782
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=782
Axenfeld-Rieger syndrome
Malformation syndrome
79213
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79213
Mucopolysaccharidosis
Category
67041
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67041
Hyaluronidase deficiency
Disease
583
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583
Mucopolysaccharidosis type 6
Disease
276212
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276212
Mucopolysaccharidosis type 6, rapidly progressing
Clinical subtype
276223
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276223
Mucopolysaccharidosis type 6, slowly progressing
Clinical subtype
584
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=584
Mucopolysaccharidosis type 7
Disease
580
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580
Mucopolysaccharidosis type 2
Disease
217085
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217085
Mucopolysaccharidosis type 2, severe form
Clinical subtype
217093
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217093
Mucopolysaccharidosis type 2, attenuated form
Clinical subtype
579
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=579
Mucopolysaccharidosis type 1
Disease
93473
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93473
Hurler syndrome
Clinical subtype
93474
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93474
Scheie syndrome
Clinical subtype
93476
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93476
Hurler-Scheie syndrome
Clinical subtype
581
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=581
Mucopolysaccharidosis type 3
Disease
79269
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79269
Sanfilippo syndrome type A
Etiological subtype
79270
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79270
Sanfilippo syndrome type B
Etiological subtype
79271
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79271
Sanfilippo syndrome type C
Etiological subtype
79272
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79272
Sanfilippo syndrome type D
Etiological subtype
582
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=582
Mucopolysaccharidosis type 4
Disease
309310
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309310
Mucopolysaccharidosis type 4B
Clinical subtype
309297
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309297
Mucopolysaccharidosis type 4A
Clinical subtype
96125
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96125
Distal deletion 6p
Malformation syndrome
2614
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2614
Nail-patella syndrome
Malformation syndrome
2636
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2636
Microcephalic osteodysplastic primordial dwarfism types I and III
Malformation syndrome
2536
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2536
Microcornea-glaucoma-absent frontal sinuses syndrome
Malformation syndrome
1052
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1052
Mosaic variegated aneuploidy syndrome
Malformation syndrome
588
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=588
Muscle-eye-brain disease
Malformation syndrome
272
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=272
Congenital muscular dystrophy, Fukuyama type
Malformation syndrome
2818
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2818
Spastic paraplegia-glaucoma-intellectual disability syndrome
Disease
2085
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2085
Glaucoma-sleep apnea syndrome
Disease
314555
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314555
Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome
Malformation syndrome
636950
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636950
Glaucomatocyclitic crisis disease
Disease
647815
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647815
Keratoendotheliitis fugax hereditaria
Disease
90080
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90080
Scarring in glaucoma filtration surgical procedures
Particular clinical situation in a disease or syndrome
519272
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519272
Structural developmental eye defect
Category
466682
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466682
Euthyroid Graves orbitopathy
Disease
468672
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468672
Colobomatous macrophthalmia-microcornea syndrome
Disease
2484
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2484
Melnick-Needles syndrome
Malformation syndrome
519384
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519384
Congenital cystic eye
Morphological anomaly
98555
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98555
Microphthalmia-anophthalmia-coloboma
Category
2542
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2542
Isolated microphthalmia-anophthalmia-coloboma
Clinical group
35612
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35612
Nanophthalmos
Malformation syndrome
98938
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98938
Colobomatous microphthalmia
Malformation syndrome
202948
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=202948
Syndromic microphthalmia-anophthalmia-coloboma
Category
1106
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1106
Microphthalmia with limb anomalies
Malformation syndrome
2547
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2547
Microphthalmia-microtia-fetal akinesia syndrome
Malformation syndrome
568
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568
Microphthalmia, Lenz type
Malformation syndrome
1466
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1466
COFS syndrome
Clinical subtype
2470
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2470
Matthew-Wood syndrome
Malformation syndrome
2510
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2510
Micro syndrome
Malformation syndrome
2556
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2556
Microphthalmia with linear skin defects syndrome
Malformation syndrome
2712
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2712
Oculofaciocardiodental syndrome
Malformation syndrome
3434
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3434
MMEP syndrome
Malformation syndrome
77298
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77298
Anophthalmia/microphthalmia-esophageal atresia syndrome
Malformation syndrome
77299
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77299
Microphthalmia-brain atrophy syndrome
Malformation syndrome
85275
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85275
Microphthalmia-ankyloblepharon-intellectual disability syndrome
Malformation syndrome
139471
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139471
Microphthalmia with brain and digit anomalies
Malformation syndrome
178364
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178364
Syndromic microphthalmia type 5
Malformation syndrome
363741
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363741
Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
Disease
424099
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424099
Colobomatous microphthalmia-rhizomelic dysplasia syndrome
Malformation syndrome
431140
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431140
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome
Malformation syndrome
611201
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611201
Oculogastrointestinal-neurodevelopmental syndrome
Malformation syndrome
603494
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603494
Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome
Malformation syndrome
157962
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157962
Oculoauricular syndrome, Schorderet type
Malformation syndrome
1806
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1806
Ectodermal dysplasia-blindness syndrome
Malformation syndrome
2432
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2432
Macrosomia-microphthalmia-cleft palate syndrome
Malformation syndrome
251279
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251279
Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome
Disease
363396
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363396
High myopia-sensorineural deafness syndrome
Disease
519266
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519266
Rare disorder of the ocular adnexa
Category
98560
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98560
Rare palpebral disorder
Category
98561
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98561
Congenital malformation of the eyelid
Category
98562
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98562
Cryptophthalmia
Category
2052
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2052
Fraser syndrome
Malformation syndrome
91396
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91396
Isolated cryptophthalmia
Morphological anomaly
98948
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98948
Congenital symblepharon
Clinical subtype
98949
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98949
Complete cryptophthalmia
Clinical subtype
98950
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98950
Partial cryptophthalmia
Clinical subtype
98563
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98563
Microblepharon-ablephara syndrome
Clinical group
920
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=920
Ablepharon macrostomia syndrome
Malformation syndrome
2671
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2671
Neu-Laxova syndrome
Malformation syndrome
583612
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583612
Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency
Etiological subtype
583602
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583602
Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency
Etiological subtype
583607
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583607
Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency
Etiological subtype
98564
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98564
Eyelid border anomaly
Category
91397
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91397
Isolated ankyloblepharon filiforme adnatum
Morphological anomaly
98565
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98565
Syndromic ankyloblepharon filiforme adnatum
Category
294963
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294963
Popliteal pterygium syndrome
Clinical group
1234
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1234
Bartsocas-Papas syndrome
Malformation syndrome
1300
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1300
Autosomal dominant popliteal pterygium syndrome
Malformation syndrome
1071
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1071
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Malformation syndrome
1072
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1072
Ankyloblepharon filiforme adnatum-cleft palate syndrome
Clinical subtype
1074
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1074
Ankyloblepharon filiforme adnatum-imperforate anus syndrome
Clinical subtype
1791
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1791
Frontofacionasal dysplasia
Malformation syndrome
85275
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85275
Microphthalmia-ankyloblepharon-intellectual disability syndrome
Malformation syndrome
98566
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98566
Syndromic eyelid coloboma
Category
1234
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1234
Bartsocas-Papas syndrome
Malformation syndrome
2717
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2717
Oculotrichoanal syndrome
Malformation syndrome
861
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=861
Treacher-Collins syndrome
Malformation syndrome
245
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=245
Nager syndrome
Malformation syndrome
246
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=246
Postaxial acrofacial dysostosis
Malformation syndrome
1791
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1791
Frontofacionasal dysplasia
Malformation syndrome
2399
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2399
Nasopalpebral lipoma-coloboma syndrome
Malformation syndrome
98946
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98946
Coloboma of eyelid
Morphological anomaly
99176
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99176
Congenital eyelid retraction
Morphological anomaly
98567
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98567
Rare eyelid malposition disorder
Category
99169
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99169
Epiblepharon
Morphological anomaly
99172
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99172
Euryblepharon
Morphological anomaly
98574
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98574
Syndromic epicanthus
Category
870
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=870
Down syndrome
Malformation syndrome
881
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=881
Turner syndrome
Malformation syndrome
99226
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99226
Monosomy X
Etiological subtype
99228
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99228
Mosaic monosomy X
Etiological subtype
99413
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99413
Turner syndrome due to structural X chromosome anomalies
Etiological subtype
904
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=904
Williams syndrome
Malformation syndrome
281
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281
Monosomy 5p
Malformation syndrome
1587
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1587
Monosomy 13q14
Malformation syndrome
1705
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1705
Distal duplication 14q
Malformation syndrome
559
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=559
Marinesco-Sjögren syndrome
Disease
818
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=818
Smith-Lemli-Opitz syndrome
Malformation syndrome
48431
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48431
Congenital cataracts-facial dysmorphism-neuropathy syndrome
Malformation syndrome
98575
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98575
Syndromic telecanthus
Category
894
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=894
Waardenburg syndrome type 1
Clinical subtype
126
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=126
Blepharophimosis-ptosis-epicanthus inversus syndrome
Malformation syndrome
572354
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572354
Blepharophimosis-ptosis-epicanthus inversus syndrome type 1
Clinical subtype
572361
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572361
Blepharophimosis-ptosis-epicanthus inversus syndrome type 2
Clinical subtype
2745
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2745
Opitz GBBB syndrome
Malformation syndrome
896
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=896
Waardenburg syndrome type 3
Clinical subtype
2707
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2707
Oculocerebrofacial syndrome, Kaufman type
Malformation syndrome
572333
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572333
Blepharophimosis-ptosis-epicanthus inversus syndrome plus
Malformation syndrome
1253
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1253
Ascher syndrome
Malformation syndrome
519270
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519270
Rare disorder with entropion
Category
910
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=910
Xeroderma pigmentosum
Disease
90342
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90342
Xeroderma pigmentosum variant
Disease
220295
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220295
Xeroderma pigmentosum-Cockayne syndrome complex
Disease
99170
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99170
Tarsal kink syndrome
Morphological anomaly
519386
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519386
Isolated congenital entropion
Morphological anomaly
519268
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519268
Rare disorder with ectropion
Category
98570
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98570
Congenital ectropion
Category
1997
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1997
Blepharo-cheilo-odontic syndrome
Malformation syndrome
2322
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2322
Kabuki syndrome
Malformation syndrome
99171
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99171
Isolated congenital ectropion
Morphological anomaly
357158
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357158
Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome
Disease
98571
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98571
Secondary ectropion
Category
281097
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281097
Autosomal recessive congenital ichthyosis
Clinical group
289586
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289586
Exfoliative ichthyosis
Disease
281122
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281122
Self-improving collodion baby
Disease
281127
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281127
Acral self-healing collodion baby
Disease
79394
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79394
Congenital ichthyosiform erythroderma
Disease
313
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313
Lamellar ichthyosis
Disease
457
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457
Harlequin ichthyosis
Disease
100976
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100976
Bathing suit ichthyosis
Disease
246
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=246
Postaxial acrofacial dysostosis
Malformation syndrome
1231
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1231
Barber-Say syndrome
Malformation syndrome
910
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=910
Xeroderma pigmentosum
Disease
90342
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90342
Xeroderma pigmentosum variant
Disease
220295
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220295
Xeroderma pigmentosum-Cockayne syndrome complex
Disease
870
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=870
Down syndrome
Malformation syndrome
2269
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2269
Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome
Disease
98576
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98576
Syndromic outer canthal malposition
Category
2701
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2701
Noonan syndrome-like disorder with loose anagen hair
Malformation syndrome
648
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648
Noonan syndrome
Malformation syndrome
861
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=861
Treacher-Collins syndrome
Malformation syndrome
245
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=245
Nager syndrome
Malformation syndrome
870
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=870
Down syndrome
Malformation syndrome
98578
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98578
Rare disorder with ptosis
Category
273
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=273
Steinert myotonic dystrophy
Disease
589824
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589824
Childhood-onset Steinert myotonic dystrophy
Clinical subtype
589827
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589827
Juvenile-onset Steinert myotonic dystrophy
Clinical subtype
589830
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589830
Adult-onset Steinert myotonic dystrophy
Clinical subtype
589833
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589833
Late-onset Steinert myotonic dystrophy
Clinical subtype
589821
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589821
Congenital-onset Steinert myotonic dystrophy
Clinical subtype
580
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580
Mucopolysaccharidosis type 2
Disease
217085
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217085
Mucopolysaccharidosis type 2, severe form
Clinical subtype
217093
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217093
Mucopolysaccharidosis type 2, attenuated form
Clinical subtype
648
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648
Noonan syndrome
Malformation syndrome
794
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=794
Saethre-Chotzen syndrome
Malformation syndrome
126
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=126
Blepharophimosis-ptosis-epicanthus inversus syndrome
Malformation syndrome
572354
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572354
Blepharophimosis-ptosis-epicanthus inversus syndrome type 1
Clinical subtype
572361
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572361
Blepharophimosis-ptosis-epicanthus inversus syndrome type 2
Clinical subtype
861
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=861
Treacher-Collins syndrome
Malformation syndrome
199
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199
Cornelia de Lange syndrome
Malformation syndrome
596
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596
X-linked centronuclear myopathy
Disease
235
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=235
Dubowitz syndrome
Malformation syndrome
2308
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2308
Jacobsen syndrome
Malformation syndrome
606
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=606
Proximal myotonic myopathy
Disease
270
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=270
Oculopharyngeal muscular dystrophy
Disease
1876
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1876
Oculogastrointestinal muscular dystrophy
Disease
127
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=127
Borjeson-Forssman-Lehmann syndrome
Malformation syndrome
1352
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1352
Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
Malformation syndrome
2057
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2057
Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
Malformation syndrome
2980
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2980
Acrootoocular syndrome
Malformation syndrome
2997
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2997
Ptosis-vocal cord paralysis syndrome
Malformation syndrome
2999
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2999
Ptosis-strabismus-ectopic pupils syndrome
Malformation syndrome
2995
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2995
Baraitser-Winter cerebrofrontofacial syndrome
Malformation syndrome
663
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=663
Mitochondrial DNA-related progressive external ophthalmoplegia
Disease
818
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=818
Smith-Lemli-Opitz syndrome
Malformation syndrome
298
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=298
Mitochondrial neurogastrointestinal encephalomyopathy
Disease
590
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=590
Congenital myasthenic syndrome
Disease
98913
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98913
Postsynaptic congenital myasthenic syndromes
Etiological subtype
98914
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98914
Presynaptic congenital myasthenic syndromes
Etiological subtype
98915
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98915
Synaptic congenital myasthenic syndromes
Etiological subtype
353327
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353327
Congenital myasthenic syndromes with glycosylation defect
Etiological subtype
230
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230
Dopamine beta-hydroxylase deficiency
Disease
45358
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=45358
Congenital fibrosis of extraocular muscles
Disease
46627
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46627
Char syndrome
Malformation syndrome
66629
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66629
Goldberg-Shprintzen megacolon syndrome
Malformation syndrome
91411
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91411
Congenital ptosis
Disease
91412
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91412
Marcus-Gunn syndrome
Disease
98951
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98951
Inverse Marcus-Gunn phenomenon
Clinical subtype
101104
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101104
Marin-Amat syndrome
Clinical subtype
91413
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91413
Congenital Horner syndrome
Disease
98897
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98897
Oculopharyngodistal myopathy
Disease
228396
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228396
Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome
Malformation syndrome
1323
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1323
Camptodactyly-joint contractures-facial skeletal defects syndrome
Malformation syndrome
293642
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293642
Blepharophimosis-intellectual disability syndrome
Clinical group
3047
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3047
Blepharophimosis-intellectual disability syndrome, SBBYS type
Malformation syndrome
293707
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293707
Blepharophimosis-intellectual disability syndrome, MKB type
Malformation syndrome
293725
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293725
Blepharophimosis-intellectual disability syndrome, Verloes type
Malformation syndrome
1620
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1620
Distal deletion 3p
Malformation syndrome
2728
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2728
Blepharophimosis-intellectual disability syndrome, Ohdo type
Malformation syndrome
637013
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=637013
SMARCA2-related blepharophimosis-intellectual disability syndrome
Malformation syndrome
502430
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502430
Weiss-Kruszka Syndrome
Malformation syndrome
572333
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572333
Blepharophimosis-ptosis-epicanthus inversus syndrome plus
Malformation syndrome
519390
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519390
Isolated blepharochalasis
Disease
46486
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46486
Mucous membrane pemphigoid
Disease
98594
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98594
Rare eyebrow/eyelash disorder
Category
33001
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33001
Lymphedema-distichiasis syndrome
Malformation syndrome
99177
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99177
Isolated distichiasis
Morphological anomaly
98602
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98602
Rare disorder of the lacrimal apparatus
Category
98604
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98604
Congenital alacrima
Category
86815
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86815
Aplasia of lacrimal and salivary glands
Disease
1764
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1764
Familial dysautonomia
Disease
869
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=869
Triple A syndrome
Disease
91416
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91416
Isolated congenital alacrima
Disease
238468
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238468
Hypohidrotic ectodermal dysplasia
Disease
181
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181
X-linked hypohidrotic ectodermal dysplasia
Etiological subtype
248
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248
Autosomal recessive hypohidrotic ectodermal dysplasia
Etiological subtype
1810
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1810
Autosomal dominant hypohidrotic ectodermal dysplasia
Etiological subtype
289483
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289483
Intellectual disability-alacrima-achalasia syndrome
Disease
528105
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528105
Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome
Disease
404454
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404454
Alacrimia-choreoathetosis-liver dysfunction syndrome
Disease
98813
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98813
Hypohidrotic ectodermal dysplasia with immunodeficiency
Disease
98609
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98609
EEC syndrome and related disorders
Category
978
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=978
ADULT syndrome
Malformation syndrome
1896
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1896
EEC syndrome
Malformation syndrome
2363
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2363
Lacrimoauriculodentodigital syndrome
Malformation syndrome
69085
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69085
Limb-mammary syndrome
Malformation syndrome
519264
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519264
Inflammatory/autoimmune disorder involving the lacrimal system
Category
79078
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79078
IgG4-related dacryoadenitis and sialadenitis
Clinical subtype
98605
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98605
Lacrimal drainage system anomaly
Category
519274
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519274
Syndromic lacrimal system disorder
Category
1775
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1775
Dyskeratosis congenita
Disease
98606
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98606
Syndromic orbital border hypoplasia
Malformation syndrome
228396
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228396
Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome
Malformation syndrome
1562
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1562
Dacryocystitis-osteopoikilosis syndrome
Malformation syndrome
451612
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=451612
Familial congenital nasolacrimal duct obstruction
Morphological anomaly
141083
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141083
Nasolacrimal duct cyst
Morphological anomaly
519284
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519284
Rare disorder of the anterior segment of the eye
Category
98610
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98610
Rare disorder with conjunctival involvement as a major feature
Category
722
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=722
Hypoplasminogenemia
Disease
99922
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99922
Ocular cicatricial pemphigoid
Disease
519280
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519280
Rare conjunctivitis
Category
1482
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1482
Gonococcal conjunctivitis
Disease
70476
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70476
Vernal keratoconjunctivitis
Disease
88633
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88633
Superior limbic keratoconjunctivitis
Disease
163934
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163934
Atopic keratoconjunctivitis
Disease
2407
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2407
Laryngo-onycho-cutaneous syndrome
Disease
774
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=774
Hereditary hemorrhagic telangiectasia
Disease
2989
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2989
Familial pterygium of the conjunctiva
Morphological anomaly
519282
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519282
Rare corneal disorder
Category
171673
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171673
Limbal stem cell deficiency
Disease
53691
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53691
Congenital cornea plana
Morphological anomaly
98635
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98635
Corneodysgenesis
Category
91489
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91489
Isolated congenital megalocornea
Morphological anomaly
91490
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91490
Isolated congenital sclerocornea
Morphological anomaly
519288
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519288
Rare disorder with corneal involvement as a major feature
Category
1896
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1896
EEC syndrome
Malformation syndrome
34533
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34533
Corneal dystrophy
Category
98627
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98627
Posterior corneal dystrophy
Category
98975
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98975
Congenital hereditary endothelial dystrophy type I
Disease
293621
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293621
X-linked endothelial corneal dystrophy
Disease
98973
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98973
Posterior polymorphous corneal dystrophy
Disease
98974
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98974
Fuchs endothelial corneal dystrophy
Disease
293603
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293603
Congenital hereditary endothelial dystrophy type II
Disease
98628
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98628
Syndromic corneal dystrophy
Category
411641
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411641
Ocular cystinosis
Clinical subtype
90354
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90354
Brittle cornea syndrome
Disease
3177
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3177
Spinocerebellar degeneration-corneal dystrophy syndrome
Malformation syndrome
650
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=650
LCAT deficiency
Disease
79292
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79292
Fish-eye disease
Clinical subtype
79293
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79293
Familial LCAT deficiency
Clinical subtype
461
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=461
Recessive X-linked ichthyosis
Disease
1490
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1490
Corneal dystrophy-perceptive deafness syndrome
Malformation syndrome
1661
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1661
X-linked corneal dermoid
Disease
2557
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2557
Mietens syndrome
Malformation syndrome
2572
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2572
Spastic ataxia-corneal dystrophy syndrome
Disease
2709
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2709
Oculodental syndrome, Rutherfurd type
Malformation syndrome
2741
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2741
Ophthalmomandibulomelic dysplasia
Malformation syndrome
2962
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2962
De Barsy syndrome
Disease
35664
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35664
ALDH18A1-related De Barsy syndrome
Etiological subtype
293633
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293633
PYCR1-related De Barsy syndrome
Etiological subtype
3194
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3194
Corneodermatoosseous syndrome
Malformation syndrome
79149
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79149
Dermochondrocorneal dystrophy
Disease
85448
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85448
AGel amyloidosis
Disease
85453
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85453
X-linked reticulate pigmentary disorder
Disease
495875
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495875
Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
Malformation syndrome
589435
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589435
Spondylometaphyseal dysplasia-corneal dystrophy syndrome
Malformation syndrome
98625
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98625
Superficial corneal dystrophy
Category
98958
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98958
Climatic droplet keratopathy
Disease
98954
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98954
Meesmann corneal dystrophy
Disease
98955
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98955
Lisch epithelial corneal dystrophy
Disease
98959
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98959
Subepithelial mucinous corneal dystrophy
Disease
98956
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98956
Epithelial basement membrane dystrophy
Disease
98961
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98961
Reis-Bücklers corneal dystrophy
Disease
98957
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98957
Gelatinous drop-like corneal dystrophy
Disease
293375
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293375
Grayson-Wilbrandt corneal dystrophy
Disease
98960
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98960
Thiel-Behnke corneal dystrophy
Disease
293381
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293381
Epithelial recurrent erosion dystrophy
Disease
352657
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352657
Hereditary benign intraepithelial dyskeratosis
Disease
352662
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352662
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
Disease
98626
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98626
Stromal corneal dystrophy
Category
98972
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98972
Central cloudy dystrophy of François
Disease
98962
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98962
Granular corneal dystrophy type I
Disease
98963
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98963
Granular corneal dystrophy type II
Disease
98964
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98964
Lattice corneal dystrophy type I
Disease
98967
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98967
Schnyder corneal dystrophy
Disease
98969
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98969
Macular corneal dystrophy
Disease
98970
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98970
Fleck corneal dystrophy
Disease
98971
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98971
Posterior amorphous corneal dystrophy
Disease
101068
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101068
Congenital stromal corneal dystrophy
Disease
293462
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293462
Pre-Descemet corneal dystrophy
Disease
98623
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98623
Syndromic keratoconus
Category
870
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=870
Down syndrome
Malformation syndrome
2067
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2067
GAPO syndrome
Malformation syndrome
558
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=558
Marfan syndrome
Disease
284963
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284963
Marfan syndrome type 1
Clinical subtype
284973
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284973
Marfan syndrome type 2
Clinical subtype
70476
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70476
Vernal keratoconjunctivitis
Disease
293936
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293936
EDICT syndrome
Disease
519290
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519290
Rare inflammatory/autoimmune corneal disorder
Category
2334
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2334
Autosomal dominant keratitis
Disease
314017
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314017
Idiopathic linear interstitial keratitis
Disease
1467
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1467
Cogan syndrome
Disease
519278
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519278
Infective keratitis
Category
137593
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137593
Infectious epithelial keratitis
Disease
67043
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67043
Amoebic keratitis
Disease
519930
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519930
Fungal keratitis
Disease
137599
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137599
Herpes simplex virus stromal keratitis
Disease
137602
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137602
Corneal endotheliitis
Disease
137596
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137596
Neurotrophic keratopathy
Disease
519406
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519406
Thygeson superficial punctate keratitis
Disease
477
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477
KID syndrome
Disease
519408
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519408
Mooren ulcer
Disease
137672
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137672
Pellucid marginal degeneration
Disease
519410
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519410
Terrien marginal degeneration
Disease
79404
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79404
Severe generalized junctional epidermolysis bullosa
Disease
79408
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79408
Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
Disease
89842
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89842
Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form
Disease
28378
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=28378
Tyrosinemia type 2
Disease
2479
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2479
Megalocornea-intellectual disability syndrome
Malformation syndrome
257
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=257
Epidermolysis bullosa simplex with muscular dystrophy
Disease
98639
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98639
Rare lens disease
Category
98640
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98640
Rare disorder with lens opacification
Category
91492
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91492
Early-onset non-syndromic cataract
Disease
98992
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98992
Early-onset partial cataract
Clinical subtype
98984
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98984
Pulverulent cataract
Clinical subtype
98988
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98988
Early-onset anterior polar cataract
Clinical subtype
98989
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98989
Cerulean cataract
Clinical subtype
98990
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98990
Coralliform cataract
Clinical subtype
98993
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98993
Early-onset posterior polar cataract
Clinical subtype
98995
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98995
Early-onset zonular cataract
Clinical subtype
98985
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98985
Early-onset sutural cataract
Clinical subtype
98991
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98991
Early-onset nuclear cataract
Clinical subtype
441452
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=441452
Early-onset lamellar cataract
Clinical subtype
441447
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=441447
Early-onset posterior subcapsular cataract
Clinical subtype
98994
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98994
Total early-onset cataract
Clinical subtype
98641
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98641
Syndromic cataract
Category
649
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=649
Norrie disease
Malformation syndrome
893
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=893
WAGR syndrome
Malformation syndrome
1373
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1373
Cataract-aberrant oral frenula-growth delay syndrome
Malformation syndrome
163
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163
Hereditary hyperferritinemia-cataract syndrome
Disease
1375
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1375
Cataract-hypertrichosis-intellectual disability syndrome
Malformation syndrome
1377
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1377
Cataract-microcornea syndrome
Malformation syndrome
1381
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1381
Cataract-intellectual disability-anal atresia-urinary defects syndrome
Malformation syndrome
1387
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1387
Cataract-intellectual disability-hypogonadism syndrome
Malformation syndrome
1493
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1493
Vici syndrome
Malformation syndrome
2410
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2410
Hypergonadotropic hypogonadism-cataract syndrome
Malformation syndrome
2663
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2663
Nathalie syndrome
Malformation syndrome
3233
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3233
Cochleosaccular degeneration-cataract syndrome
Malformation syndrome
1272
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1272
Aymé-Gripp syndrome
Malformation syndrome
162
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=162
Cataract-glaucoma syndrome
Malformation syndrome
85163
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85163
Hypomyelination-congenital cataract syndrome
Malformation syndrome
91495
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91495
Persistent hyperplastic primary vitreous
Disease
98642
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98642
Chromosomal anomaly with cataract
Category
881
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=881
Turner syndrome
Malformation syndrome
99226
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99226
Monosomy X
Etiological subtype
99228
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99228
Mosaic monosomy X
Etiological subtype
99413
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99413
Turner syndrome due to structural X chromosome anomalies
Etiological subtype
280
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280
Wolf-Hirschhorn syndrome
Malformation syndrome
281
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281
Monosomy 5p
Malformation syndrome
1598
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1598
Monosomy 18p
Disease
1600
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1600
Monosomy 18q
Malformation syndrome
3378
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3378
Trisomy 13
Malformation syndrome
3380
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3380
Trisomy 18
Malformation syndrome
236
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=236
Trisomy 9p
Malformation syndrome
574
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=574
21q deletion syndrome
Malformation syndrome
1587
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1587
Monosomy 13q14
Malformation syndrome
1590
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1590
Distal deletion 13q
Malformation syndrome
1695
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1695
Non-distal duplication 10q
Malformation syndrome
1742
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1742
Trisomy 5p
Malformation syndrome
1617
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1617
2q24 microdeletion syndrome
Malformation syndrome
3309
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3309
Tetrasomy 5p
Malformation syndrome
96070
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96070
Distal duplication 2p
Malformation syndrome
96095
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96095
3q26 microduplication syndrome
Malformation syndrome
96102
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96102
Distal duplication 10q
Malformation syndrome
96168
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96168
Monosomy 13q34
Malformation syndrome
314585
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314585
15q overgrowth syndrome
Malformation syndrome
1707
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1707
Distal duplication 15q
Etiological subtype
314588
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314588
Distal triplication 15q
Etiological subtype
870
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=870
Down syndrome
Malformation syndrome
3376
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3376
Triploidy
Malformation syndrome
1052
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1052
Mosaic variegated aneuploidy syndrome
Malformation syndrome
247794
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247794
Juvenile cataract-microcornea-renal glucosuria syndrome
Disease
263347
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263347
MRCS syndrome
Disease
289499
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289499
Congenital cataract microcornea with corneal opacity
Malformation syndrome
300313
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300313
Congenital cataract-hearing loss-severe developmental delay syndrome
Disease
314993
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314993
Cataract-congenital heart disease-neural tube defect syndrome
Malformation syndrome
330054
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330054
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
Disease
436174
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436174
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
Disease
447753
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447753
Autosomal dominant spastic paraplegia type 9A
Disease
98644
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98644
Metabolic disease with cataract
Category
61
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=61
Alpha-mannosidosis
Disease
309282
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309282
Alpha-mannosidosis, infantile form
Clinical subtype
309288
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309288
Alpha-mannosidosis, adult form
Clinical subtype
324
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324
Fabry disease
Disease
352
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352
Galactosemia
Category
79237
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79237
Galactokinase deficiency
Disease
79238
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79238
Galactose epimerase deficiency
Disease
308473
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308473
Erythrocyte galactose epimerase deficiency
Clinical subtype
308487
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308487
Generalized galactose epimerase deficiency
Clinical subtype
79239
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79239
Classic galactosemia
Disease
570422
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570422
Galactose mutarotase deficiency
Disease
773
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=773
Refsum disease
Disease
2962
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2962
De Barsy syndrome
Disease
35664
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35664
ALDH18A1-related De Barsy syndrome
Etiological subtype
293633
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293633
PYCR1-related De Barsy syndrome
Etiological subtype
445038
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445038
3-methylglutaconic aciduria type 7
Disease
414
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=414
Gyrate atrophy of choroid and retina
Disease
438178
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438178
Fatty acyl-CoA reductase 1 deficiency
Disease
98907
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98907
Neutral lipid storage disease with ichthyosis
Disease
67048
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67048
3-methylglutaconic aciduria type 4
Disease
79326
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79326
ALG2-CDG
Disease
79325
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79325
ALG8-CDG
Disease
79281
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79281
Alpha-N-acetylgalactosaminidase deficiency type 3
Clinical subtype
909
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=909
Cerebrotendinous xanthomatosis
Disease
46059
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46059
Lathosterolosis
Disease
29
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=29
Mevalonic aciduria
Clinical subtype
585
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585
Multiple sulfatase deficiency
Disease
588
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=588
Muscle-eye-brain disease
Malformation syndrome
272
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=272
Congenital muscular dystrophy, Fukuyama type
Malformation syndrome
44
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=44
Neonatal adrenoleukodystrophy
Disease
709
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=709
Peters plus syndrome
Malformation syndrome
581
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=581
Mucopolysaccharidosis type 3
Disease
79269
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79269
Sanfilippo syndrome type A
Etiological subtype
79270
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79270
Sanfilippo syndrome type B
Etiological subtype
79271
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79271
Sanfilippo syndrome type C
Etiological subtype
79272
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79272
Sanfilippo syndrome type D
Etiological subtype
14
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=14
Abetalipoproteinemia
Disease
394
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=394
Homocystinuria due to cystathionine beta-synthase deficiency
Disease
615938
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615938
Spastic paraparesis-cataracts-speech delay syndrome
Clinical syndrome
98646
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98646
Renal disease with cataract
Category
534
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=534
Oculocerebrorenal syndrome of Lowe
Malformation syndrome
63
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63
Alport syndrome
Disease
88917
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88917
X-linked Alport syndrome
Clinical subtype
88918
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88918
Autosomal dominant Alport syndrome
Clinical subtype
88919
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88919
Autosomal recessive Alport syndrome
Clinical subtype
1018
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1018
X-linked Alport syndrome-diffuse leiomyomatosis
Clinical subtype
653722
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653722
Digenic Alport syndrome
Clinical subtype
98648
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98648
Musculoskeletal disease with cataract
Category
273
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=273
Steinert myotonic dystrophy
Disease
589824
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589824
Childhood-onset Steinert myotonic dystrophy
Clinical subtype
589827
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589827
Juvenile-onset Steinert myotonic dystrophy
Clinical subtype
589830
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589830
Adult-onset Steinert myotonic dystrophy
Clinical subtype
589833
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589833
Late-onset Steinert myotonic dystrophy
Clinical subtype
589821
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589821
Congenital-onset Steinert myotonic dystrophy
Clinical subtype
3103
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3103
Roberts syndrome
Malformation syndrome
457059
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457059
Pseudohypoparathyroidism with Albright hereditary osteodystrophy
Clinical group
79443
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79443
Pseudohypoparathyroidism type 1A
Disease
79444
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79444
Pseudohypoparathyroidism type 1C
Disease
79445
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79445
Pseudopseudohypoparathyroidism
Disease
177
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177
Rhizomelic chondrodysplasia punctata
Disease
309803
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309803
Rhizomelic chondrodysplasia punctata type 3
Etiological subtype
309789
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309789
Rhizomelic chondrodysplasia punctata type 1
Etiological subtype
309796
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309796
Rhizomelic chondrodysplasia punctata type 2
Etiological subtype
468717
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468717
Rhizomelic chondrodysplasia punctata type 5
Etiological subtype
35173
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35173
X-linked dominant chondrodysplasia punctata
Disease
90653
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90653
Stickler syndrome type 1
Clinical subtype
90654
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90654
Stickler syndrome type 2
Clinical subtype
98649
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98649
Dentocutaneous disease with cataract
Category
1466
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1466
COFS syndrome
Clinical subtype
627
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=627
Nance-Horan syndrome
Malformation syndrome
2909
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2909
Rothmund-Thomson syndrome
Disease
221008
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221008
Rothmund-Thomson syndrome type 1
Clinical subtype
221016
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221016
Rothmund-Thomson syndrome type 2
Clinical subtype
98650
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98650
Craniofacial anomaly with cataract
Category
87
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87
Apert syndrome
Malformation syndrome
912
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=912
Zellweger syndrome
Disease
2108
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2108
Hallermann-Streiff syndrome
Malformation syndrome
818
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=818
Smith-Lemli-Opitz syndrome
Malformation syndrome
207
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207
Crouzon syndrome
Malformation syndrome
2109
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2109
Hallermann-Streiff-like syndrome
Malformation syndrome
1369
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1369
Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
Disease
564
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564
Meckel syndrome
Malformation syndrome
821
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=821
Sotos syndrome
Disease
559
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=559
Marinesco-Sjögren syndrome
Disease
48431
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48431
Congenital cataracts-facial dysmorphism-neuropathy syndrome
Malformation syndrome
250923
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250923
Isolated aniridia
Morphological anomaly
2310
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2310
Absence deformity of leg-cataract syndrome
Malformation syndrome
974
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=974
Adams-Oliver syndrome
Malformation syndrome
3137
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3137
Alpha-N-acetylgalactosaminidase deficiency
Disease
79281
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79281
Alpha-N-acetylgalactosaminidase deficiency type 3
Clinical subtype
79280
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79280
Alpha-N-acetylgalactosaminidase deficiency type 2
Clinical subtype
79279
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79279
Alpha-N-acetylgalactosaminidase deficiency type 1
Clinical subtype
64
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64
Alström syndrome
Disease
1068
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1068
Aniridia-intellectual disability syndrome
Malformation syndrome
3453
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3453
Autoimmune polyendocrinopathy type 1
Disease
1170
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1170
Autosomal recessive cerebelloparenchymal disorder type 3
Disease
1366
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1366
Autosomal recessive palmoplantar keratoderma and congenital alopecia
Disease
1458
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1458
CODAS syndrome
Malformation syndrome
1345
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1345
Cardiomyopathy-cataract-hip spine disease syndrome
Disease
1368
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1368
Cataract-ataxia-deafness syndrome
Disease
1383
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1383
Cataract-deafness-hypogonadism syndrome
Malformation syndrome
1380
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1380
Cataract-nephropathy-encephalopathy syndrome
Malformation syndrome
50945
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50945
Blomstrand lethal chondrodysplasia
Malformation syndrome
93267
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93267
Cloverleaf skull-multiple congenital anomalies syndrome
Malformation syndrome
1875
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1875
Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome
Disease
2772
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2772
Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
Malformation syndrome
290
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=290
Congenital rubella syndrome
Disease
50814
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50814
Craniolenticulosutural dysplasia
Malformation syndrome
2674
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2674
Cyprus facial-neuromusculoskeletal syndrome
Malformation syndrome
1563
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1563
Dahlberg-Borer-Newcomer syndrome
Malformation syndrome
3231
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3231
Deafness-onychodystrophy syndrome
Clinical group
79499
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79499
Autosomal dominant deafness-onychodystrophy syndrome
Malformation syndrome
79500
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79500
DOORS syndrome
Malformation syndrome
79107
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79107
Developmental malformations-deafness-dystonia syndrome
Malformation syndrome
1884
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1884
Ectopia lentis-chorioretinal dystrophy-myopia syndrome
Disease
317
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317
Erythrokeratodermia variabilis
Disease
2238
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2238
Familial isolated hypoparathyroidism
Disease
189466
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=189466
Familial isolated hypoparathyroidism due to impaired PTH secretion
Clinical subtype
2239
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2239
Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
Clinical subtype
428
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=428
Autosomal dominant hypocalcemia
Clinical subtype
291
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=291
Congenital varicella syndrome
Disease
2047
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2047
Flynn-Aird syndrome
Disease
2253
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2253
Foveal hypoplasia-presenile cataract syndrome
Disease
2115
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2115
Harrod syndrome
Malformation syndrome
1839
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1839
Hereditary mucoepithelial dysplasia
Malformation syndrome
189
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=189
Hidrotic ectodermal dysplasia
Disease
2250
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2250
Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
Disease
2278
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2278
Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
Malformation syndrome
3173
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3173
Infantile spasms-broad thumbs syndrome
Disease
3042
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3042
Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
Malformation syndrome
65
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65
Leber congenital amaurosis
Disease
33001
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33001
Lymphedema-distichiasis syndrome
Malformation syndrome
2457
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2457
Mandibuloacral dysplasia
Malformation syndrome
90153
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90153
Mandibuloacral dysplasia with type A lipodystrophy
Clinical subtype
90154
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90154
Mandibuloacral dysplasia with type B lipodystrophy
Clinical subtype
560
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=560
Marshall syndrome
Malformation syndrome
2510
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2510
Micro syndrome
Malformation syndrome
85172
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85172
Microcephalic osteodysplastic dysplasia, Saul-Wilson type
Disease
2643
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2643
Microcephalic primordial dwarfism, Toriello type
Malformation syndrome
3433
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3433
Microcephaly-brachydactyly-kyphoscoliosis syndrome
Malformation syndrome
2528
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2528
Microcephaly-microcornea syndrome, Seemanova type
Malformation syndrome
139471
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139471
Microphthalmia with brain and digit anomalies
Malformation syndrome
2551
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2551
Microspherophakia-metaphyseal dysplasia syndrome
Malformation syndrome
166011
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166011
Multiple epiphyseal dysplasia, Beighton type
Disease
637
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=637
Full NF2-related schwannomatosis
Disease
2714
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2714
Oculo-palato-cerebral syndrome
Malformation syndrome
2719
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2719
Oculocerebral hypopigmentation syndrome, Cross type
Malformation syndrome
2710
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2710
Oculodentodigital dysplasia
Malformation syndrome
2712
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2712
Oculofaciocardiodental syndrome
Malformation syndrome
2788
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2788
Osteoporosis-pseudoglioma syndrome
Disease
2969
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2969
Proteus-like syndrome
Disease
606
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=606
Proximal myotonic myopathy
Disease
728
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=728
Relapsing polychondritis
Disease
3085
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3085
Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
Malformation syndrome
2036
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2036
Scalp-ear-nipple syndrome
Malformation syndrome
800
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=800
Schwartz-Jampel syndrome
Disease
3167
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3167
Siegler-Brewer-Carey syndrome
Malformation syndrome
478049
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478049
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
Disease
910
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=910
Xeroderma pigmentosum
Disease
557003
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557003
Oculoskeletodental syndrome
Disease
902
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=902
Werner syndrome
Disease
488168
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488168
Microcephaly-congenital cataract-psoriasiform dermatitis syndrome
Malformation syndrome
2572
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2572
Spastic ataxia-corneal dystrophy syndrome
Disease
1264
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1264
Tricho-retino-dento-digital syndrome
Malformation syndrome
2489
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2489
Upper limb defect-eye and ear abnormalities syndrome
Malformation syndrome
33364
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33364
Trichothiodystrophy
Disease
35125
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35125
Epidermal nevus syndrome
Disease
90340
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90340
Blau syndrome
Disease
85321
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85321
Deafness-intellectual disability syndrome, Martin-Probst type
Malformation syndrome
85276
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85276
X-linked intellectual disability, Armfield type
Malformation syndrome
3301
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3301
Tetraamelia-multiple malformations syndrome
Malformation syndrome
464738
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464738
Basel-Vanagaite-Smirin-Yosef syndrome
Malformation syndrome
85194
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85194
Spondylo-ocular syndrome
Malformation syndrome
792
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=792
X-linked retinoschisis
Malformation syndrome
3437
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3437
Vogt-Koyanagi-Harada disease
Disease
500545
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500545
Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract
Disease
521432
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521432
Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome
Disease
163937
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163937
X-linked intellectual disability, Najm type
Disease
2720
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2720
Oculocerebral hypopigmentation syndrome, Preus type
Malformation syndrome
633035
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633035
Intellectual disability-early-onset cataract-microcephaly syndrome
Malformation syndrome
98652
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98652
Lens size anomaly
Category
519396
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519396
Isolated microspherophakia
Morphological anomaly
519294
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519294
Syndromic microspherophakia
Category
2084
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2084
Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome
Malformation syndrome
2551
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2551
Microspherophakia-metaphyseal dysplasia syndrome
Malformation syndrome
3449
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3449
Weill-Marchesani syndrome
Malformation syndrome
363992
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363992
Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
Disease
3086
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3086
Autosomal dominant vitreoretinochoroidopathy
Disease
85194
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85194
Spondylo-ocular syndrome
Malformation syndrome
98653
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98653
Lens position anomaly
Category
519292
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519292
Syndromic ectopia lentis
Category
171844
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171844
Blindness-scoliosis-arachnodactyly syndrome
Malformation syndrome
231736
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231736
Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome
Malformation syndrome
412022
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412022
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
Malformation syndrome
560
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=560
Marshall syndrome
Malformation syndrome
558
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=558
Marfan syndrome
Disease
284963
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284963
Marfan syndrome type 1
Clinical subtype
284973
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284973
Marfan syndrome type 2
Clinical subtype
394
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=394
Homocystinuria due to cystathionine beta-synthase deficiency
Disease
833
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=833
Encephalopathy due to sulfite oxidase deficiency
Disease
99731
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99731
Isolated sulfite oxidase deficiency
Clinical subtype
99732
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99732
Sulfite oxidase deficiency due to molybdenum cofactor deficiency
Clinical subtype
308386
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308386
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Etiological subtype
308393
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308393
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Etiological subtype
308400
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308400
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Etiological subtype
1068
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1068
Aniridia-intellectual disability syndrome
Malformation syndrome
2325
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2325
Epidermolysis bullosa simplex with anodontia/hypodontia
Malformation syndrome
2092
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2092
Focal dermal hypoplasia
Malformation syndrome
2084
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2084
Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome
Malformation syndrome
2551
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2551
Microspherophakia-metaphyseal dysplasia syndrome
Malformation syndrome
3449
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3449
Weill-Marchesani syndrome
Malformation syndrome
1259
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1259
Blepharoptosis-myopia-ectopia lentis syndrome
Disease
1885
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1885
Isolated ectopia lentis
Malformation syndrome
98655
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98655
Lens shape anomaly
Category
138
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138
CHARGE syndrome
Malformation syndrome
783
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=783
Rubinstein-Taybi syndrome
Malformation syndrome
353277
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353277
Rubinstein-Taybi syndrome due to CREBBP mutations
Etiological subtype
353281
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353281
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Etiological subtype
353284
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353284
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Etiological subtype
564
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564
Meckel syndrome
Malformation syndrome
568
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568
Microphthalmia, Lenz type
Malformation syndrome
63
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63
Alport syndrome
Disease
88917
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88917
X-linked Alport syndrome
Clinical subtype
88918
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88918
Autosomal dominant Alport syndrome
Clinical subtype
88919
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88919
Autosomal recessive Alport syndrome
Clinical subtype
1018
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1018
X-linked Alport syndrome-diffuse leiomyomatosis
Clinical subtype
653722
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653722
Digenic Alport syndrome
Clinical subtype
2092
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2092
Focal dermal hypoplasia
Malformation syndrome
83461
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83461
Congenital primary aphakia
Malformation syndrome
98943
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98943
Coloboma of eye lens
Morphological anomaly
519286
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519286
Rare disorder of the pupil
Category
534
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=534
Oculocerebrorenal syndrome of Lowe
Malformation syndrome
773
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=773
Refsum disease
Disease
236
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=236
Trisomy 9p
Malformation syndrome
404463
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404463
Multisystemic smooth muscle dysfunction syndrome
Disease
454718
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454718
Holmes-Adie syndrome
Disease
1067
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1067
Aniridia-ptosis-intellectual disability-familial obesity syndrome
Malformation syndrome
1884
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1884
Ectopia lentis-chorioretinal dystrophy-myopia syndrome
Disease
2151
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2151
Hirschsprung disease-ganglioneuroblastoma syndrome
Malformation syndrome
2752
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2752
Orofaciodigital syndrome type 3
Malformation syndrome
2788
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2788
Osteoporosis-pseudoglioma syndrome
Disease
2969
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2969
Proteus-like syndrome
Disease
2999
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2999
Ptosis-strabismus-ectopic pupils syndrome
Malformation syndrome
3163
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3163
SHORT syndrome
Malformation syndrome
1182
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1182
Spastic ataxia with congenital miosis
Disease
3374
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3374
Unilateral ocular duplication
Morphological anomaly
1661
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1661
X-linked corneal dermoid
Disease
91413
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91413
Congenital Horner syndrome
Disease
1267
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1267
Botulism
Disease
254504
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254504
Inhalational botulism
Clinical subtype
228371
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228371
Foodborne botulism
Clinical subtype
230800
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230800
Toxin-mediated infectious botulism
Clinical subtype
178475
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178475
Wound botulism
Etiological subtype
178481
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178481
Intestinal botulism
Clinical subtype
178487
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178487
Adult intestinal botulism
Clinical subtype
178478
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178478
Infant botulism
Clinical subtype
254509
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254509
Iatrogenic botulism
Clinical subtype
1422
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1422
Chondrodysplasia-difference of sex development syndrome
Malformation syndrome
1764
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1764
Familial dysautonomia
Disease
3204
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3204
Stormorken-Sjaastad-Langslet syndrome
Disease
88632
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88632
Anterior segment developmental anomaly
Category
519276
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519276
Anterior segment developmental abnormality with extraocular manifestations
Category
709
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=709
Peters plus syndrome
Malformation syndrome
3163
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3163
SHORT syndrome
Malformation syndrome
2090
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2090
GMS syndrome
Malformation syndrome
2670
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2670
Pierson syndrome
Malformation syndrome
1473
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1473
Uveal coloboma-cleft lip and palate-intellectual disability
Malformation syndrome
782
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=782
Axenfeld-Rieger syndrome
Malformation syndrome
96125
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96125
Distal deletion 6p
Malformation syndrome
506307
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506307
Stromme syndrome
Malformation syndrome
98557
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98557
Syndromic aniridia
Category
1067
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1067
Aniridia-ptosis-intellectual disability-familial obesity syndrome
Malformation syndrome
1068
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1068
Aniridia-intellectual disability syndrome
Malformation syndrome
893
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=893
WAGR syndrome
Malformation syndrome
1065
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1065
Aniridia-cerebellar ataxia-intellectual disability syndrome
Malformation syndrome
1064
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1064
Aniridia-renal agenesis-psychomotor retardation syndrome
Malformation syndrome
1069
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1069
Aniridia-absent patella syndrome
Malformation syndrome
52055
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52055
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
Malformation syndrome
139450
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139450
Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome
Malformation syndrome
52
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52
Alagille syndrome
Malformation syndrome
261600
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261600
Alagille syndrome due to 20p12 microdeletion
Etiological subtype
261619
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261619
Alagille syndrome due to a JAG1 point mutation
Etiological subtype
261629
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261629
Alagille syndrome due to a NOTCH2 point mutation
Etiological subtype
195
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=195
Cat-eye syndrome
Malformation syndrome
2321
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2321
Jung syndrome
Malformation syndrome
98634
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98634
Anterior segment developmental anomaly without extraocular manifestations
Category
69736
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69736
Bilateral acute depigmentation of the iris
Disease
98978
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98978
Axenfeld anomaly
Morphological anomaly
708
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=708
Peters anomaly
Morphological anomaly
519388
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519388
Autosomal recessive anterior segment dysgenesis
Malformation syndrome
250923
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250923
Isolated aniridia
Morphological anomaly
91483
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91483
Rieger anomaly
Morphological anomaly
566
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566
Congenital microcoria
Malformation syndrome
91491
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91491
Congenital ectropion uveae
Malformation syndrome
98944
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98944
Coloboma of iris
Morphological anomaly
488197
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488197
Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome
Disease
519392
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519392
Isolated iridoschisis
Disease