Creative Commons Attribution 4.0 International CC-BY-4.0 https://creativecommons.org/licenses/by/4.0/legalcode 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 659744 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659744 Ocular surface squamous neoplasia Disease 716204 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716204 Rare neoplastic choroidal disorder Category 716207 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716207 Rare benign neoplastic choroidal disorder Category 674965 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674965 Choroidal osteoma Disease 716210 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716210 Rare malignant neoplastic choroidal disorder Category 714046 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714046 Primary choroidal lymphoma Disease 39044 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=39044 Uveal melanoma Disease 716198 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716198 Rare paraneoplastic choroidal disorder Category 674968 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674968 Bilateral diffuse uveal melanocytic proliferation disease 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 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 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 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 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 499085 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=499085 Chronic relapsing inflammatory optic neuritis Clinical subtype 659634 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659634 Relapsing isolated optic neuritis Clinical subtype 659626 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659626 Single isolated optic neuritis 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 674947 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674947 Diffuse unilateral subacute neuroretinitis 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 syndrome Etiological subtype 716742 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716742 Congenital myasthenic syndrome with kinetic defect Etiological subtype 716758 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716758 Fast-channel congenital myasthenic syndrome Etiological subtype 716765 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716765 Slow-channel congenital myasthenic syndrome Etiological subtype 716772 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716772 Congenital myasthenic syndrome with kinetic defect due to reduced ion channel conductance Etiological subtype 716816 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716816 Congenital myasthenic syndrome with primary acetylcholine receptor deficiency Etiological subtype 716881 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716881 Congenital myasthenic syndrome due to a sodium channel 1.4 defect Etiological subtype 716825 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716825 Congenital myasthenic syndrome due to defects in endplate development and maintenance Etiological subtype 98914 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98914 Presynaptic congenital myasthenic syndromes Etiological subtype 716893 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716893 Congenital myasthenic syndrome due to defective synthesis or recycling of acetylcholine Etiological subtype 716899 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716899 Congenital myasthenic syndrome due to defective synaptic vesicles exocytosis Etiological subtype 716908 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716908 Autosomal dominant congenital myasthenic syndromes due to defective synaptic vesicles exocytosis Etiological subtype 716903 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716903 Autosomal recessive congenital myasthenic syndrome due to defective synaptic vesicles exocytosis Etiological subtype 716889 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716889 Congenital myasthenic syndromes due to defective axonal transport Etiological subtype 98915 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98915 Synaptic congenital myasthenic syndrome Etiological subtype 716913 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716913 Ubiquitously expressed proteins associated congenital myasthenic syndrome Etiological subtype 353327 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353327 Congenital myasthenic syndrome with glycosylation defect Etiological subtype 716917 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716917 Congenital myasthenic syndrome with mitochondrial 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 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 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 syndrome 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 HIDEA 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 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 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 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 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 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 363746 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363746 Balint syndrome Clinical syndrome 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 Isolated 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-predominant 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 280914 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280914 Isolated idiopathic anterior uveitis Disease 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 519309 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519309 Rare choroidal disorder Category 716204 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716204 Rare neoplastic choroidal disorder Category 716207 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716207 Rare benign neoplastic choroidal disorder Category 674965 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674965 Choroidal osteoma Disease 716210 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716210 Rare malignant neoplastic choroidal disorder Category 714046 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714046 Primary choroidal lymphoma Disease 39044 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=39044 Uveal melanoma Disease 716213 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716213 Rare isolated developmental choroidal disorder Category 209956 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209956 Idiopathic uveal effusion syndrome Disease 674958 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674958 Stellate multiform amelanotic choroidopathy Disease 674943 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674943 Isolated angioid streaks Disease 716195 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716195 Rare inflammatory choroidal disorder 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 580951 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580951 Punctate inner choroidopathy Disease 714154 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714154 Idiopathic multifocal choroiditis Disease 714164 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714164 Acute posterior multifocal placoid pigment epitheliopathy Disease 3437 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3437 Vogt-Koyanagi-Harada disease Disease 716198 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716198 Rare paraneoplastic choroidal disorder Category 674968 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674968 Bilateral diffuse uveal melanocytic proliferation disease Disease 716201 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716201 Rare vascular choroidal disorder Category 714138 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714138 Circumscribed choroidal hemangioma Disease 519315 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519315 Rare retinal disorder Category 716290 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716290 Rare predominantly chorioretinal disorder Category 716293 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716293 Rare non-progressive predominantly chorioretinal disorder Category 716296 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716296 Rare isolated non-progressive predominantly chorioretinal disorder Category 98942 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98942 Coloboma of choroid and retina Morphological anomaly 251295 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251295 Pigmented paravenous retinochoroidal atrophy Disease 674953 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674953 Multiple evanescent white dot syndrome Disease 715862 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715862 Melanocytoma of the optic disc and optic nerve Disease 75327 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75327 North Carolina macular dystrophy Disease 716299 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716299 Rare disorder with non-progressive predominantly chorioretinal disorder as a major feature Category 1884 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1884 Ectopia lentis-chorioretinal dystrophy-myopia syndrome Disease 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 50 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50 Aicardi syndrome Disease 369970 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369970 Microcornea-myopic chorioretinal atrophy-telecanthus syndrome Disease 1433 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1433 Choroidal atrophy-alopecia syndrome Malformation syndrome 716304 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716304 Rare progressive predominantly chorioretinal disorder Category 716342 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716342 Rare disorder with progressive predominantly chorioretinal disorder as a major feature Category 1415 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1415 Hardikar syndrome Malformation syndrome 2235 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome Disease 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 2518 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2518 Autosomal recessive chorioretinopathy-microcephaly syndrome Malformation syndrome 1180 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1180 Ataxia-hypogonadism-choroidal dystrophy syndrome Disease 3363 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3363 Trichomegaly-retina pigmentary degeneration-dwarfism syndrome Malformation syndrome 2377 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2377 Laurence-Moon syndrome Malformation syndrome 250977 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250977 AICA-ribosiduria Disease 716348 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716348 Rare isolated progressive predominantly chorioretinal disorder Category 86813 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86813 Helicoid peripapillary chorioretinal degeneration Disease 180 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180 Choroideremia Disease 75373 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75373 Progressive bifocal chorioretinal atrophy Disease 85128 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85128 Bothnia retinal dystrophy Disease 41751 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=41751 Bietti crystalline dystrophy Disease 414 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=414 Gyrate atrophy of choroid and retina Disease 165958 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165958 Cavitary myiasis Disease 443079 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443079 Central serous chorioretinopathy Disease 35686 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35686 Serpiginous choroiditis Disease 716358 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716358 Rare generalized retinal disorder Category 716364 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716364 Rare non-progressive generalized retinal disorder Category 716367 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716367 Rare isolated non-progressive generalized retinal disorder Category 215 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=215 Congenital stationary night blindness Clinical group 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 714096 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714096 Congenital stationary night blindness, Riggs type Disease 714090 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714090 Congenital stationary night blindness, Schubert-Bornschein type Disease 714079 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714079 Complete congenital stationary night blindness, Schubert-Bornschein type Clinical subtype 714070 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714070 Incomplete congenital stationary night blindness, Schubert-Bornschein type Clinical subtype 99179 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99179 Kandori fleck retina Malformation syndrome 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 178333 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178333 Åland Islands eye disease Disease 90001 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90001 X-linked cone dysfunction syndrome with myopia Disease 363989 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363989 Familial benign flecked retina Disease 75374 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75374 Bradyopsia Disease 792 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=792 X-linked retinoschisis Malformation syndrome 251287 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251287 Benign concentric annular macular dystrophy Disease 75378 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75378 Oligocone trichromacy Disease 716393 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716393 Rare disorder with non-progressive generalized retinal disorder as a major feature Category 733 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=733 Familial adenomatous polyposis Disease 2718 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2718 Oculotrichodysplasia Malformation syndrome 716361 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716361 Rare progressive generalized retinal disorder Category 716405 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716405 Rare disorder with progressive generalized retinal disorder as a major feature Category 653709 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653709 Cone rod dystrophy-short stature syndrome 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 313850 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313850 Infantile cerebellar-retinal degeneration 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 141007 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141007 Orofaciodigital syndrome type 9 Malformation syndrome 436274 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436274 Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa 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 247522 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247522 Primary ciliary dyskinesia-retinitis pigmentosa syndrome Disease 220295 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220295 Xeroderma pigmentosum-Cockayne syndrome complex Disease 5 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency Disease 3011 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3011 Spastic tetraplegia-retinitis pigmentosa-intellectual disability 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 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 1574 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1574 Retinal degeneration-nanophthalmos-glaucoma syndrome Malformation syndrome 1264 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1264 Tricho-retino-dento-digital syndrome Malformation syndrome 1117 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1117 Aplasia cutis-myopia syndrome Disease 1021 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1021 Amaurosis-hypertrichosis syndrome Disease 2318 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2318 Joubert syndrome with oculorenal defect Malformation syndrome 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 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 216 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216 Neuronal ceroid lipofuscinosis Clinical group 314632 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314632 CLN12 disease Disease 228329 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228329 CLN1 disease Disease 699718 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699718 Infantile CLN1 disease Clinical subtype 699739 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699739 Juvenile CLN1 disease Clinical subtype 699745 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699745 Adult CLN1 disease Clinical subtype 699734 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699734 Late infantile CLN1 disease Clinical subtype 228343 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228343 CLN4 disease Disease 228346 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228346 CLN3 disease Disease 699780 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699780 Juvenile CLN3 disease Clinical subtype 699796 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699796 Protracted juvenile CLN3 disease Clinical subtype 228349 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228349 CLN2 disease Disease 699751 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699751 Infantile CLN2 disease Clinical subtype 699769 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699769 Juvenile CLN2 disease Clinical subtype 699761 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699761 Late infantile CLN2 disease Clinical subtype 314629 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314629 CLN11 disease Disease 228354 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228354 CLN8 disease Disease 700484 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700484 Late infantile CLN8 disease Clinical subtype 1947 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1947 Northern epilepsy Clinical subtype 228363 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228363 CLN6 disease Disease 700477 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700477 Adult CLN6 disease Clinical subtype 700467 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700467 Late infantile CLN6 disease Clinical subtype 700472 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700472 Juvenile CLN6 disease Clinical subtype 228360 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228360 CLN5 disease Disease 699802 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699802 Late infantile CLN5 disease Clinical subtype 699807 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699807 Juvenile CLN5 disease Clinical subtype 699812 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699812 Adult CLN5 disease Clinical subtype 228366 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228366 CLN7 disease Disease 352709 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352709 CLN13 disease Disease 699708 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699708 CLN14 disease Disease 228337 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228337 CLN10 disease Disease 700487 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700487 Congenital CLN10 disease Clinical subtype 700492 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700492 Late infantile CLN10 disease Clinical subtype 700497 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700497 Juvenile CLN10 disease Clinical subtype 644 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=644 NARP syndrome Disease 1515 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1515 Cranioectodermal dysplasia 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 96 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96 Ataxia with vitamin E deficiency Disease 220493 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220493 Joubert syndrome with ocular defect Malformation syndrome 140976 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140976 RHYNS syndrome Disease 480 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480 Kearns-Sayre 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 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 168549 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168549 Axial spondylometaphyseal dysplasia Disease 171848 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome Disease 79255 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79255 GM1 gangliosidosis type 1 Clinical subtype 773 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=773 Adult Refsum disease Disease 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 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 110 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=110 Bardet-Biedl syndrome Disease 3156 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3156 Senior-Loken 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 79282 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79282 Methylmalonic acidemia with homocystinuria, type cblC Clinical subtype 1873 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1873 Jalili syndrome Malformation syndrome 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 64 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64 Alström syndrome Disease 193 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=193 Cohen 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 166035 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166035 Brachydactyly-short stature-retinitis pigmentosa 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 423479 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency Disease 1051 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1051 Ramos-Arroyo syndrome Malformation syndrome 2246 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2246 Cerebellar hypoplasia-tapetoretinal degeneration syndrome Malformation syndrome 75858 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75858 MORM syndrome Disease 85167 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome Disease 140969 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140969 Saldino-Mainzer syndrome Disease 77259 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77259 Gaucher disease type 1 Clinical subtype 85332 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85332 X-linked intellectual disability-retinitis pigmentosa syndrome Disease 48818 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48818 Aceruloplasminemia Disease 251279 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251279 Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome Disease 171844 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171844 Blindness-scoliosis-arachnodactyly 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 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 603694 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603694 KLHL7-related Crisponi/cold-induced sweating-like syndrome Disease 416 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=416 Primary hyperoxaluria Disease 93598 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93598 Primary hyperoxaluria type 1 Clinical subtype 93599 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93599 Primary hyperoxaluria type 2 Clinical subtype 93600 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93600 Primary hyperoxaluria type 3 Clinical subtype 716410 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716410 Rare isolated progressive generalized retinal disorder Category 364055 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364055 Severe early-childhood-onset retinal dystrophy Disease 65 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65 Leber congenital amaurosis Disease 209932 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209932 Cone dystrophy with supernormal rod response Disease 247834 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247834 Occult macular dystrophy Disease 53540 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53540 Goldmann-Favre syndrome Disease 52427 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52427 Retinitis punctata albescens Disease 85128 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85128 Bothnia retinal dystrophy Disease 1872 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1872 Cone rod dystrophy Disease 139455 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139455 Autosomal recessive bestrophinopathy Disease 67042 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67042 Late-onset retinal degeneration Disease 791 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=791 Retinitis pigmentosa Disease 827 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=827 Stargardt disease Disease 1871 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1871 Progressive cone dystrophy 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 352718 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352718 Progressive retinal dystrophy due to retinol transport defect Disease 284454 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284454 Acute zonal occult outer retinopathy Disease 71505 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71505 Cancer-associated retinopathy Disease 714109 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714109 Ocular siderosis Disease 695631 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695631 Primary vitreoretinal large B-cell lymphoma Disease 674947 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674947 Diffuse unilateral subacute neuroretinitis Disease 519317 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519317 Rare retinal vasculopathy Category 716450 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716450 Rare non-progressive retinal vasculopathy Category 284247 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284247 Familial retinal arterial macroaneurysm Malformation syndrome 648684 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648684 Central retinal artery occlusion Disease 353334 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353334 Congenital retinal arteriovenous communication Morphological anomaly 71213 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71213 Retinal capillary malformation Disease 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 674930 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674930 Perifoveal exudative vascular anomalous complex Disease 674924 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674924 Isolated retinal racemose hemangioma Disease 716455 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716455 Rare progressive retinal vasculopathy Category 716466 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716466 Rare isolated progressive retinal vasculopathy Category 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 891 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=891 Familial exudative vitreoretinopathy Disease 329211 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329211 Autosomal dominant neovascular inflammatory vitreoretinopathy Disease 716459 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716459 Rare disorder with progressive retinal vasculopathy as a major feature Category 190 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=190 Coats disease Disease 2715 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2715 Severe oculo-renal-cerebellar syndrome Malformation syndrome 649 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=649 Norrie disease Malformation syndrome 464 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464 Incontinentia pigmenti Malformation syndrome 3205 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3205 Sturge-Weber syndrome Malformation syndrome 136 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy Disease 2788 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2788 Osteoporosis-pseudoglioma syndrome Disease 838 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=838 Susac syndrome 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 40923 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=40923 Eales disease 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 313838 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313838 Coats plus syndrome Disease 506307 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506307 Stromme syndrome Malformation syndrome 519313 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519313 Rare macular disorder Category 716413 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716413 Rare non-progressive predominantly macular disorder Category 716419 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716419 Rare isolated non-progressive predominantly macular disorder Category 75327 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75327 North Carolina macular dystrophy Disease 98945 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98945 Coloboma of macula Morphological anomaly 714101 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714101 Acute idiopathic maculopathy Disease 519398 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519398 Isolated foveal hypoplasia Morphological anomaly 178333 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178333 Åland Islands eye disease Disease 488239 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488239 Acute macular neuroretinopathy Disease 674935 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674935 Torpedo Maculopathy Disease 716422 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716422 Rare disorder with non-progressive predominantly macular disorder as a major feature 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 716416 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716416 Rare progressive predominantly macular disorder Category 716432 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716432 Rare isolated progressive predominantly macular disorder Category 75376 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75376 Familial drusen Disease 827 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=827 Stargardt disease Disease 67042 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67042 Late-onset retinal degeneration Disease 139455 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139455 Autosomal recessive bestrophinopathy 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 59181 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59181 Sorsby fundus dystrophy Disease 1243 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1243 Best vitelliform macular dystrophy Disease 41751 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=41751 Bietti crystalline dystrophy Disease 466718 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466718 Martinique crinkled retinal pigment epitheliopathy Disease 75377 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75377 Central areolar choroidal dystrophy Disease 319640 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319640 Retinal macular dystrophy type 2 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 284460 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284460 Acute annular outer retinopathy Disease 97341 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97341 Persistent placoid maculopathy Disease 279894 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279894 Toxic maculopathy due to antimalarial drugs Disease 715855 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715855 Acute exudative polymorphous vitelliform maculopathy Disease 715845 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715845 Idiopathic Acute exudative polymorphous vitelliform maculopathy Clinical subtype 715850 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715850 Paraneoplastic acute exudative polymorphous vitelliform maculopathy Clinical subtype 2737 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2737 Onchocerciasis Disease 714150 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714150 Stellate non-hereditary idiopathic foveomacular retinoschisis 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 263347 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263347 MRCS 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 792 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=792 X-linked retinoschisis Malformation syndrome 716427 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716427 Rare disorder with progressive predominantly macular disorder as a major feature Category 1897 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1897 EEM syndrome Malformation syndrome 77292 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77292 Infantile neurovisceral acid sphingomyelinase deficiency Disease 758 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=758 Pseudoxanthoma elasticum Disease 1573 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1573 Hypotrichosis with juvenile macular degeneration Malformation syndrome 816 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=816 Sjögren-Larsson syndrome Disease 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 1571 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1571 Knobloch syndrome Malformation syndrome 91494 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91494 Macular coloboma-cleft palate-hallux valgus syndrome Malformation syndrome 100996 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100996 Kjellin syndrome Disease 351 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=351 Galactosialidosis Disease 98668 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98668 Vitreoretinopathy Category 716435 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716435 Rare non-progressive vitreoretinopathy Category 91495 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91495 Persistent hyperplastic primary vitreous Disease 716438 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716438 Rare progressive vitreoretinopathy Category 716441 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716441 Rare isolated progressive vitreoretinopathy Category 3086 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3086 Autosomal dominant vitreoretinochoroidopathy Disease 329211 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329211 Autosomal dominant neovascular inflammatory vitreoretinopathy Disease 891 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=891 Familial exudative vitreoretinopathy Disease 91496 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91496 Snowflake vitreoretinal degeneration Disease 898 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=898 Wagner disease Disease 209867 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209867 Autosomal dominant rhegmatogenous retinal detachment Disease 716446 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716446 Rare disorder with progressive vitreoretinopathy disorder as a major feature Category 404473 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404473 Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome Malformation syndrome 1571 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1571 Knobloch syndrome Malformation syndrome 85194 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85194 Spondylo-ocular syndrome Malformation syndrome 899 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=899 Walker-Warburg syndrome Disease 271861 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=271861 Hereditary ATTR amyloidosis Disease 85447 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85447 ATTRV30M amyloidosis Clinical subtype 85451 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85451 ATTRV122I amyloidosis 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 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 664500 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664500 Hermansky-Pudlak syndrome due to AP3B1 deficiency Clinical subtype 664511 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664511 Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 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 662216 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662216 Mucopolysaccharidosis type 10 Disease 96125 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96125 Distal deletion 6p syndrome 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 Keratitis 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 659904 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659904 Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome Malformation syndrome 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 1647 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1647 Oculocerebrocutaneous syndrome Malformation syndrome 611201 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611201 Oculogastrointestinal-neurodevelopmental syndrome Malformation syndrome 689829 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689829 Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome Disease 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 syndrome Etiological subtype 99228 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99228 Mosaic monosomy X syndrome 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 syndrome Malformation syndrome 1587 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1587 Monosomy 13q14 syndrome Malformation syndrome 1705 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1705 Distal duplication 14q syndrome 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 syndrome Etiological subtype 716742 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716742 Congenital myasthenic syndrome with kinetic defect Etiological subtype 716758 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716758 Fast-channel congenital myasthenic syndrome Etiological subtype 716765 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716765 Slow-channel congenital myasthenic syndrome Etiological subtype 716772 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716772 Congenital myasthenic syndrome with kinetic defect due to reduced ion channel conductance Etiological subtype 716816 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716816 Congenital myasthenic syndrome with primary acetylcholine receptor deficiency Etiological subtype 716881 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716881 Congenital myasthenic syndrome due to a sodium channel 1.4 defect Etiological subtype 716825 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716825 Congenital myasthenic syndrome due to defects in endplate development and maintenance Etiological subtype 98914 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98914 Presynaptic congenital myasthenic syndromes Etiological subtype 716893 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716893 Congenital myasthenic syndrome due to defective synthesis or recycling of acetylcholine Etiological subtype 716899 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716899 Congenital myasthenic syndrome due to defective synaptic vesicles exocytosis Etiological subtype 716908 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716908 Autosomal dominant congenital myasthenic syndromes due to defective synaptic vesicles exocytosis Etiological subtype 716903 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716903 Autosomal recessive congenital myasthenic syndrome due to defective synaptic vesicles exocytosis Etiological subtype 716889 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716889 Congenital myasthenic syndromes due to defective axonal transport Etiological subtype 98915 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98915 Synaptic congenital myasthenic syndrome Etiological subtype 716913 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716913 Ubiquitously expressed proteins associated congenital myasthenic syndrome Etiological subtype 353327 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353327 Congenital myasthenic syndrome with glycosylation defect Etiological subtype 716917 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716917 Congenital myasthenic syndrome with mitochondrial 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 syndrome 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 700160 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700160 ADNP-related blepharophimosis-intellectual disability syndrome Disease 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 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 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 95455 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum Disease 537 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=537 Toxic epidermal necrolysis Clinical subtype 36426 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36426 Stevens-Johnson syndrome Clinical subtype 506784 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506784 Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome Clinical subtype 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 684305 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684305 Neurooculocardiogenitourinary syndrome 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 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 Congenital cataract-anterior segment dysgenesis 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 syndrome Etiological subtype 99228 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99228 Mosaic monosomy X syndrome 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 syndrome Malformation syndrome 1598 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1598 Monosomy 18p syndrome Disease 1600 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1600 Monosomy 18q syndrome Malformation syndrome 3378 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3378 Trisomy 13 syndrome Malformation syndrome 3380 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3380 Trisomy 18 syndrome Malformation syndrome 236 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=236 Trisomy 9p syndrome 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 syndrome Malformation syndrome 1590 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1590 Distal deletion 13q syndrome Malformation syndrome 1695 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1695 Non-distal duplication 10q syndrome Malformation syndrome 1742 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1742 Trisomy 5p syndrome Malformation syndrome 3309 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3309 Tetrasomy 5p syndrome Malformation syndrome 96070 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96070 Distal duplication 2p syndrome 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 syndrome Malformation syndrome 96168 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96168 Monosomy 13q34 syndrome 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 syndrome Etiological subtype 314588 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314588 Distal triplication 15q syndrome 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 syndrome 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 Adult 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-neonatal cataract-neurologic involvement-congenital neutropenia syndrome 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 1239 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1239 Behr 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 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 Clinical subtype 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 662184 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662184 Congenital muscular dystrophy-cataract-intellectual disability syndrome Disease 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 Adult Refsum disease Disease 236 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=236 Trisomy 9p syndrome 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 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 Clinical subtype 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 anomaly 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 syndrome 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