Cataract
Symptom Information:
Symptom ID: | HPO:0000518 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Synonyms: |
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Cross references: |
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Is a (Direct Parents): |
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Is a (Whole tree): |
HPO:
All(HPO:0000001) Phenotypic abnormality(HPO:0000118) Abnormality of the eye(HPO:0000478) Abnormal eye morphology(HPO:0012372) Abnormality of the globe(HPO:0012374) Abnormality of the anterior segment of the globe(HPO:0004328) Abnormality of the lens(HPO:0000517) Cataract(HPO:0000518) MedDRA: Eye disorders(MedDRA:10015919) Anterior eye structural change, deposit and degeneration(MedDRA:10002693) Cataract conditions(MedDRA:10007772) Cataract(HPO:0000518) |
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Database Frequency: | 454 / 7739 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Resource: |
All diseases associated with this symptom:
19q13.11 microdeletion syndrome | (Orphanet:217346) |
1p36 deletion syndrome | (Orphanet:1606) |
1q21.1 microdeletion syndrome | (Orphanet:250989) |
1q21.1 microduplication syndrome | (Orphanet:250994) |
22q11.2 deletion syndrome | (Orphanet:567) |
3-@METHYLGLUTACONIC ACIDURIA WITH CATARACTS, NEUROLOGIC INVOLVEMENT,AND NEUTROPENIA | (OMIM:616271) |
3-methylglutaconic aciduria type 4 | (Orphanet:67048) |
3q29 microdeletion syndrome | (Orphanet:65286) |
3q29 microduplication | (Orphanet:251038) |
8q21.11 microdeletion syndrome | (Orphanet:284160) |
ACHROMATOPSIA 3 | (OMIM:262300) |
ALDH18A1-related De Barsy syndrome | (Orphanet:35664) |
ALG2-CDG | (Orphanet:79326) |
ALG8-CDG | (Orphanet:79325) |
ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 3 | (OMIM:170995) |
Absence deformity of leg - cataract | (Orphanet:2310) |
Acro-renal-ocular syndrome | (Orphanet:959) |
Acroosteolysis, dominant type | (Orphanet:955) |
Adams-Oliver syndrome | (Orphanet:974) |
Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency | (Orphanet:329314) |
Aicardi syndrome | (Orphanet:50) |
Alagille syndrome due to 20p12 microdeletion | (Orphanet:261600) |
Alagille syndrome due to a JAG1 point mutation | (Orphanet:261619) |
Albright hereditary osteodystrophy | (Orphanet:665) |
Alpha-N-acetylgalactosaminidase deficiency | (Orphanet:3137) |
Alpha-N-acetylgalactosaminidase deficiency type 3 | (Orphanet:79281) |
Alpha-crystallinopathy | (Orphanet:98910) |
Alpha-mannosidosis | (Orphanet:61) |
Alport syndrome | (Orphanet:63) |
Alström syndrome | (Orphanet:64) |
Angio-osteohypertrophic syndrome | (Orphanet:2346) |
Aniridia - absent patella | (Orphanet:1069) |
Aniridia - ptosis - intellectual deficit - familial obesity | (Orphanet:1067) |
Aniridia-intellectual deficit syndrome | (Orphanet:1068) |
Aspartylglucosaminuria | (Orphanet:93) |
Autoimmune polyendocrinopathy type 1 | (Orphanet:3453) |
Autoimmune polyendocrinopathy type 2 | (Orphanet:3143) |
Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation | (Orphanet:324530) |
Autosomal dominant chondrodysplasia punctata | (Orphanet:79344) |
Autosomal dominant limb-girdle muscular dystrophy type 1G | (Orphanet:55596) |
Autosomal dominant optic atrophy and cataract | (Orphanet:67036) |
Autosomal dominant progressive external ophthalmoplegia | (Orphanet:254892) |
Autosomal dominant spastic paraplegia type 9 | (Orphanet:100990) |
Autosomal recessive Alport syndrome | (Orphanet:88919) |
Autosomal recessive cerebelloparenchymal disorder type 3 | (Orphanet:1170) |
Autosomal recessive chorioretinopathy-microcephaly | (Orphanet:2518) |
Autosomal recessive deafness-onychodystrophy syndrome | (Orphanet:79500) |
Autosomal recessive limb-girdle muscular dystrophy type 2S | (Orphanet:369840) |
Autosomal recessive limb-girdle muscular dystrophy type 2T | (Orphanet:363623) |
Autosomal recessive palmoplantar keratoderma and congenital alopecia | (Orphanet:1366) |
Autosomal recessive proximal renal tubular acidosis | (Orphanet:93607) |
Autosomal recessive spastic ataxia with leukoencephalopathy | (Orphanet:314603) |
Autosomal recessive spastic paraplegia type 26 | (Orphanet:101006) |
Autosomal recessive spastic paraplegia type 46 | (Orphanet:320391) |
Bardet-Biedl syndrome | (Orphanet:110) |
Bardet-Biedl syndrome 1 | (OMIM:209900 ) |
Bardet-Biedl syndrome 18 | (OMIM:615995) |
Bardet-Biedl syndrome 2 | (OMIM:615981) |
Bardet-Biedl syndrome 9 | (OMIM:615986) |
Behçet disease | (Orphanet:117) |
Beta-thalassemia major | (Orphanet:231214) |
Blau syndrome | (Orphanet:90340) |
Borjeson-Forssman-Lehmann syndrome | (Orphanet:127) |
Brachytelephalangic chondrodysplasia punctata | (Orphanet:79345) |
Branchio-oculo-facial syndrome | (Orphanet:1297) |
CATARACT 11, MULTIPLE TYPES | (OMIM:610623) |
CATARACT 15, MULTIPLE TYPES | (OMIM:615274) |
CATARACT 18 | (OMIM:610019) |
CATARACT 29 | (OMIM:115800) |
CATARACT 35 | (OMIM:609376) |
CATARACT 36 | (OMIM:613887) |
CATARACT 9, MULTIPLE TYPES | (OMIM:604219) |
CATARACT, MICROCEPHALY, FAILURE TO THRIVE, KYPHOSCOLIOSIS SYNDROME | (OMIM:212540) |
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURALHEARING LOSS, AND SKELETAL DYSPLASIA | (OMIM:616007) |
CEREBROOCULOFACIOSKELETAL SYNDROME 1 | (OMIM:214150) |
CEREBROOCULOFACIOSKELETAL SYNDROME 2 | (OMIM:610756) |
CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE | (OMIM:302950) |
CHOREA, REMITTING, WITH NYSTAGMUS AND CATARACT | (OMIM:601372) |
COCKAYNE SYNDROME A | (OMIM:216400) |
COCKAYNE SYNDROME B | (OMIM:133540) |
CODAS syndrome | (Orphanet:1458) |
COFS syndrome | (Orphanet:1466) |
CORNEAL OPACIFICATION WITH OTHER OCULAR ANOMALIES | (OMIM:269400) |
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4 | (OMIM:615412) |
COWDEN SYNDROME 5 | (OMIM:615108) |
COWDEN SYNDROME 6 | (OMIM:615109) |
CRANIOSYNOSTOSIS WITH OCULAR ABNORMALITIES AND HALLUCAL DEFECTS | (OMIM:608279) |
Cardiomyopathy-cataract-hip spine disease | (Orphanet:1345) |
Carnitine palmitoyl transferase II deficiency, neonatal form | (Orphanet:228308) |
Cataract - aberrant oral frenula - growth delay | (Orphanet:1373) |
Cataract - ataxia - deafness | (Orphanet:1368) |
Cataract - deafness - hypogonadism | (Orphanet:1383) |
Cataract - hypertrichosis - intellectual deficit | (Orphanet:1375) |
Cataract - intellectual deficit - anal atresia - urinary defects | (Orphanet:1381) |
Cataract - intellectual deficit - hypogonadism | (Orphanet:1387) |
Cataract - nephropathy - encephalopathy | (Orphanet:1380) |
Cataract-congenital heart disease-neural tube defect syndrome | (Orphanet:314993) |
Cataract-microcornea syndrome | (Orphanet:1377) |
Cenani-Lenz syndrome | (Orphanet:3258) |
Cerebellum agenesis - hydrocephaly | (Orphanet:1397) |
Cerebroretinal vasculopathy | (Orphanet:3421) |
Cerebrotendinous xanthomatosis | (Orphanet:909) |
Chondrodysplasia, Blomstrand type | (Orphanet:50945) |
Choreoacanthocytosis | (Orphanet:2388) |
Classic galactosemia | (Orphanet:79239) |
Classical homocystinuria | (Orphanet:394) |
Classical phenylketonuria | (Orphanet:79254) |
Cloverleaf skull - multiple congenital anomalies | (Orphanet:93267) |
Coats disease | (Orphanet:190) |
Cochleosaccular degeneration - cataract | (Orphanet:3233) |
Cockayne syndrome | (Orphanet:191) |
Coffin-Lowry syndrome | (Orphanet:192) |
Coffin-Siris syndrome | (Orphanet:1465) |
Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome | (Orphanet:363741) |
Congenital blindness due to retinal non-attachment | (Orphanet:300337) |
Congenital cataract - ichthyosis | (Orphanet:1376) |
Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay | (Orphanet:330054) |
Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome | (Orphanet:1369) |
Congenital cataracts - facial dysmorphism - neuropathy | (Orphanet:48431) |
Congenital hypothyroidism | (Orphanet:442) |
Congenital intrauterine infection-like syndrome | (Orphanet:1229) |
Congenital muscular dystrophy - infantile cataract - hypogonadism | (Orphanet:1875) |
Congenital osteogenesis imperfecta - microcephaly - cataracts | (Orphanet:2772) |
Congenital rubella syndrome | (Orphanet:290) |
Connective tissue disorder due to lysyl hydroxylase-3 deficiency | (Orphanet:300284) |
Cornelia de Lange syndrome | (Orphanet:199) |
Cowden syndrome | (Orphanet:201) |
Craniolenticulosutural dysplasia | (Orphanet:50814) |
Craniosynostosis - cataract | (Orphanet:1530) |
Cronkhite-Canada syndrome | (Orphanet:2930) |
Cushing disease | (Orphanet:96253) |
Cushing syndrome | (Orphanet:553) |
Cyprus facial-neuromusculoskeletal syndrome | (Orphanet:2674) |
DEAFNESS, CATARACT, RETINITIS PIGMENTOSA, AND SPERM ABNORMALITIES | (OMIM:300719) |
DERMATITIS, ATOPIC | (OMIM:603165) |
DPAGT1-CDG | (Orphanet:86309) |
DWARFISM WITH STIFF JOINTS AND OCULAR ABNORMALITIES | (OMIM:127200) |
Dahlberg-Borer-Newcomer syndrome | (Orphanet:1563) |
De Barsy syndrome | (Orphanet:2962) |
Deafness - intellectual deficit, Martin-Probst type | (Orphanet:85321) |
Deafness - onychodystrophy | (Orphanet:3231) |
Dent disease type 2 | (Orphanet:93623) |
Developmental malformations - deafness - dystonia | (Orphanet:79107) |
Distal trisomy 6p | (Orphanet:1745) |
Donnai-Barrow syndrome | (Orphanet:2143) |
Dopa-responsive dystonia due to sepiapterin reductase deficiency | (Orphanet:70594) |
Down syndrome | (Orphanet:870) |
Dubowitz syndrome | (Orphanet:235) |
Dwarfism - intellectual deficit - eye abnormality | (Orphanet:2650) |
Dyschromatosis universalis hereditaria 1 | (OMIM:127500) |
Dyschromatosis universalis hereditaria 2 | (OMIM:612715) |
Dyschromatosis universalis hereditaris 3 | (OMIM:615402) |
Dysequilibrium syndrome | (Orphanet:1766) |
Dyskeratosis congenita | (Orphanet:1775) |
ECTOPIA LENTIS ET PUPILLAE | (OMIM:225200) |
EHLERS-DANLOS SYNDROME, BEASLEY-COHEN TYPE | (OMIM:608763) |
EPSTEIN SYNDROME | (OMIM:153650) |
Ectodermal dysplasia - blindness | (Orphanet:1806) |
Ectodermal dysplasia syndrome | (Orphanet:79373) |
Ectopia lentis - chorioretinal dystrophy - myopia | (Orphanet:1884) |
Embryofetopathy due to oral anticoagulant therapy | (Orphanet:1914) |
Encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy,and cataracts | (OMIM:225740) |
Erythrokeratodermia variabilis | (Orphanet:317) |
Eye defects - arachnodactyly - cardiopathy | (Orphanet:2725) |
FRONTOFACIONASAL DYSPLASIA | (OMIM:229400) |
Fabry disease | (Orphanet:324) |
Familial isolated hypoparathyroidism | (Orphanet:2238) |
Familial isolated hypoparathyroidism due to agenesis of parathyroid gland | (Orphanet:2239) |
Familial isolated hypoparathyroidism due to impaired PTH secretion | (Orphanet:189466) |
Familial leiomyomatosis | (Orphanet:523) |
Familial ocular anterior segment mesenchymal dysgenesis | (Orphanet:88632) |
Fanconi anemia | (Orphanet:84) |
Fetal varicella syndrome | (Orphanet:291) |
Fine-Lubinsky syndrome | (Orphanet:1272) |
Flynn-Aird syndrome | (Orphanet:2047) |
Foveal hypoplasia - presenile cataract | (Orphanet:2253) |
Fronto-facio-nasal dysostosis | (Orphanet:1791) |
Frontonasal dysplasia | (Orphanet:250) |
Galactokinase deficiency | (Orphanet:79237) |
Galactose epimerase deficiency | (Orphanet:79238) |
Galactosemia | (Orphanet:352) |
Galloway-Mowat syndrome | (Orphanet:2065) |
Glaucoma - ectopia - microspherophakia - stiff joints - short stature | (Orphanet:2084) |
Goldmann-Favre syndrome | (Orphanet:53540) |
Gorlin syndrome | (Orphanet:377) |
Granular corneal dystrophy type I | (Orphanet:98962) |
HEC syndrome | (Orphanet:2119) |
HERNS syndrome | (Orphanet:63261) |
HYPERTROPHIC NEUROPATHY AND CATARACT | (OMIM:239900) |
Hallermann-Streiff syndrome | (Orphanet:2108) |
Harlequin ichthyosis | (Orphanet:457) |
Harrod syndrome | (Orphanet:2115) |
Hereditary hyperferritinemia with congenital cataracts | (Orphanet:163) |
Hereditary mucoepithelial dysplasia | (Orphanet:1839) |
Hereditary vascular retinopathy | (Orphanet:71291) |
Hermansky-Pudlak syndrome | (Orphanet:79430) |
Hidrotic ectodermal dysplasia | (Orphanet:189) |
Hoyeraal-Hreidarsson syndrome | (Orphanet:3322) |
Hypergonadotropic hypogonadism - cataract syndrome | (Orphanet:2410) |
Hypomyelination - congenital cataract | (Orphanet:85163) |
Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism | (Orphanet:2250) |
IRIS PIGMENT LAYER, CLEAVAGE OF | (OMIM:147610) |
Ichthyosis - intellectual deficit - dwarfism - renal impairment | (Orphanet:2278) |
Ichthyosis follicularis - alopecia - photophobia | (Orphanet:2273) |
Incontinentia pigmenti | (Orphanet:464) |
Infantile Refsum disease | (Orphanet:772) |
Infantile spasms - broad thumbs | (Orphanet:3173) |
Insulin-resistance syndrome type A | (Orphanet:2297) |
Intellectual deficit - cataracts - calcified pinnae - myopathy | (Orphanet:3042) |
Intellectual deficit, X-linked, Armfield type | (Orphanet:85276) |
Isolated CoQ-cytochrome C reductase deficiency | (Orphanet:1460) |
Isolated aniridia | (Orphanet:250923) |
Ito hypomelanosis | (Orphanet:435) |
Jacobsen syndrome | (Orphanet:2308) |
Joubert syndrome 9 | (OMIM:612285) |
Juvenile cataract - microcornea - renal glucosuria | (Orphanet:247794) |
KAHRIZI SYNDROME | (OMIM:612713) |
Kapur-Toriello syndrome | (Orphanet:2328) |
Karsch-Neugebauer syndrome | (Orphanet:2329) |
Kniest dysplasia | (Orphanet:485) |
Knobloch syndrome | (Orphanet:1571) |
Koolen-De Vries syndrome | (Orphanet:96169) |
LEIOMYOMATOSIS, DIFFUSE, WITH ALPORT SYNDROME | (OMIM:308940) |
Lathosterolosis | (Orphanet:46059) |
Laurence-Moon syndrome | (Orphanet:2377) |
Leber congenital amaurosis | (Orphanet:65) |
Leber congenital amaurosis 1 | (OMIM:204000) |
Leber congenital amaurosis 10 | (OMIM:611755) |
Leber congenital amaurosis 16 | (OMIM:614186) |
Leber congenital amaurosis 2 | (OMIM:204100) |
Leber congenital amaurosis 6 | (OMIM:613826) |
Leber congenital amaurosis 7 | (OMIM:613829) |
Leber congenital amaurosis 8 | (OMIM:613835) |
Lhermitte-Duclos disease | (Orphanet:65285) |
Linear verrucous nevus syndrome | (Orphanet:2611) |
Lymphedema - distichiasis | (Orphanet:33001) |
MEDNIK syndrome | (Orphanet:171851) |
MEGALOCORNEA | (OMIM:309300) |
MELAS | (Orphanet:550) |
MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENISSYNDROME | (OMIM:610156) |
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 | (OMIM:616171) |
MICROCEPHALY, GROWTH RETARDATION, CATARACT, HEARING LOSS, AND UNUSUALAPPEARANCE | (OMIM:612947) |
MICROPHTHALMIA, ISOLATED, WITH CATARACT 1 | (OMIM:156850) |
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3 | (OMIM:610092) |
MICROPHTHALMIA, SYNDROMIC 7 | (OMIM:309801) |
MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE) | (OMIM:615418) |
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 | (OMIM:257300) |
MOVED TO 302200 | (OMIM:315000) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 1 | (OMIM:236670) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 11 | (OMIM:615181) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 12 | (OMIM:615249) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 2 | (OMIM:613150) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 3 | (OMIM:253280) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 4 | (OMIM:253800) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6 | (OMIM:613154) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 7 | (OMIM:614643) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 14 | (OMIM:615351) |
MYH9-related thrombocytopenia | (Orphanet:182050) |
MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION | (OMIM:614292) |
Malignant atrophic papulosis | (Orphanet:679) |
Mandibuloacral dysplasia | (Orphanet:2457) |
Mandibuloacral dysplasia with type A lipodystrophy | (Orphanet:90153) |
Marfan syndrome type 1 | (Orphanet:284963) |
Marinesco-Sjögren syndrome | (Orphanet:559) |
Marshall syndrome | (Orphanet:560) |
Maternal hyperphenylalaninemia | (Orphanet:2209) |
Maternally-inherited diabetes and deafness | (Orphanet:225) |
Meckel syndrome | (Orphanet:564) |
Metaphyseal dysostosis - intellectual deficit - conductive deafness | (Orphanet:2502) |
Metatropic dysplasia | (Orphanet:2635) |
Mevalonic aciduria | (Orphanet:29) |
Micro syndrome | (Orphanet:2510) |
Microcephalic osteodysplastic dysplasia, Saul-Wilson type | (Orphanet:85172) |
Microcephalic primordial dwarfism due to ZNF335 deficiency | (Orphanet:329228) |
Microcephalic primordial dwarfism, Toriello type | (Orphanet:2643) |
Microcephaly - brachydactyly - kyphoscoliosis | (Orphanet:3433) |
Microcephaly - lymphedema - chorioretinopathy | (Orphanet:2526) |
Microcephaly-microcornea syndrome, Seemanova type | (Orphanet:2528) |
Microphthalmia - cataract | (Orphanet:2543) |
Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen | (Orphanet:251279) |
Microphthalmia with brain and digit anomalies | (Orphanet:139471) |
Microphthalmia, Lenz type | (Orphanet:568) |
Microspherophakia - metaphyseal dysplasia | (Orphanet:2551) |
Mietens syndrome | (Orphanet:2557) |
Miller-Dieker syndrome | (Orphanet:531) |
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies | (Orphanet:369897) |
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency | (Orphanet:1194) |
Monilethrix | (Orphanet:573) |
Monosomy 13q14 | (Orphanet:1587) |
Monosomy 5p | (Orphanet:281) |
Morning glory syndrome | (Orphanet:35737) |
Mosaic variegated aneuploidy syndrome | (Orphanet:1052) |
Mowat-Wilson syndrome | (Orphanet:2152) |
Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism | (Orphanet:280679) |
Mucopolysaccharidosis type 3 | (Orphanet:581) |
Multiple epiphyseal dysplasia, Beighton type | (Orphanet:166011) |
Multiple non-ossifying fibromatosis | (Orphanet:2029) |
Multiple sulfatase deficiency | (Orphanet:585) |
Muscle-eye-brain disease | (Orphanet:588) |
Myhre syndrome | (Orphanet:2588) |
Nail-patella syndrome | (Orphanet:2614) |
Nance-Horan syndrome | (Orphanet:627) |
Nasopalpebral lipoma - coloboma - telecanthus | (Orphanet:2399) |
Nathalie syndrome | (Orphanet:2663) |
Neonatal adrenoleukodystrophy | (Orphanet:44) |
Neu-Laxova syndrome | (Orphanet:2671) |
Neurofibromatosis type 2 | (Orphanet:637) |
Neutral lipid storage disease | (Orphanet:165) |
Nevus comedonicus syndrome | (Orphanet:64754) |
Non-rhizomelic chondrodysplasia punctata | (Orphanet:176) |
Norrie disease | (Orphanet:649) |
OCULOCEREBRAL HYPOPIGMENTATION SYNDROME OF PREUS | (OMIM:257790) |
OCULODENTODIGITAL DYSPLASIA | (OMIM:164200) |
OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE | (OMIM:257850) |
OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY | (OMIM:212550) |
Oculo-palato-cerebral syndrome | (Orphanet:2714) |
Oculo-reno-cerebellar syndrome | (Orphanet:2715) |
Oculoauricular syndrome, Schorderet type | (Orphanet:157962) |
Oculocerebral hypopigmentation syndrome, Cross type | (Orphanet:2719) |
Oculocerebral hypopigmentation syndrome, Preus type | (Orphanet:2720) |
Oculocerebrorenal syndrome | (Orphanet:534) |
Oculodentodigital dysplasia | (Orphanet:2710) |
Oculofaciocardiodental syndrome | (Orphanet:2712) |
Oculoosteocutaneous syndrome | (Orphanet:2713) |
Okihiro syndrome | (Orphanet:93293) |
Osteocraniostenosis | (Orphanet:2763) |
Osteopathia striata - cranial sclerosis | (Orphanet:2780) |
Osteoporosis - pseudoglioma | (Orphanet:2788) |
Otodental syndrome | (Orphanet:2791) |
PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER | (OMIM:616154) |
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) | (OMIM:214100) |
PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) | (OMIM:214110) |
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) | (OMIM:614866) |
PEROXISOME BIOGENESIS DISORDER 8B | (OMIM:614877) |
PEROXISOME BIOGENESIS DISORDER 9B | (OMIM:614879) |
PHACE syndrome | (Orphanet:42775) |
POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY,AND PULMONARY FIBROSIS | (OMIM:615704) |
POLYCYSTIC KIDNEY, CATARACT, AND CONGENITAL BLINDNESS | (OMIM:263100) |
PREMATURE AGING SYNDROME, OKAMOTO TYPE | (OMIM:601811) |
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 1 | (OMIM:157640) |
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 3 | (OMIM:609286) |
Pachyonychia congenita | (Orphanet:2309) |
Pellagra-like skin rash-neurological manifestations | (Orphanet:2837) |
Peters anomaly | (Orphanet:708) |
Peters-plus syndrome | (Orphanet:709) |
Phenylketonuria | (Orphanet:716) |
Pierson syndrome | (Orphanet:2670) |
Porencephaly-microcephaly-bilateral congenital cataract syndrome | (Orphanet:306547) |
Primary cutis verticis gyrata | (Orphanet:671) |
Progeria - short stature - pigmented nevi | (Orphanet:2959) |
Proteus syndrome | (Orphanet:744) |
Proteus-like syndrome | (Orphanet:2969) |
Proximal myotonic myopathy | (Orphanet:606) |
Proximal renal tubular acidosis | (Orphanet:47159) |
Pseudohypoparathyroidism type 1A | (Orphanet:79443) |
Pseudohypoparathyroidism type 1C | (Orphanet:79444) |
Pseudopseudohypoparathyroidism | (Orphanet:79445) |
RETINITIS PIGMENTOSA 2 | (OMIM:312600) |
RETINITIS PIGMENTOSA 37 | (OMIM:611131) |
RETINITIS PIGMENTOSA 4 | (OMIM:613731) |
RETINITIS PIGMENTOSA 9 | (OMIM:180104) |
RETINOPATHY, PIGMENTARY, AND MENTAL RETARDATION | (OMIM:268050) |
ROBERTS SYNDROME | (OMIM:268300) |
Recessive dystrophic epidermolysis bullosa inversa | (Orphanet:79409) |
Refsum disease | (Orphanet:773) |
Relapsing polychondritis | (Orphanet:728) |
Renal coloboma syndrome | (Orphanet:1475) |
Renal tubulopathy - encephalopathy - liver failure | (Orphanet:254902) |
Renpenning syndrome | (Orphanet:3242) |
Retinal vasculopathy and cerebral leukodystrophy | (Orphanet:247691) |
Retinitis pigmentosa | (Orphanet:791) |
Retinitis pigmentosa - intellectual deficit - deafness - hypogenitalism | (Orphanet:3085) |
Rhizomelic chondrodysplasia punctata | (Orphanet:177) |
Rhizomelic chondrodysplasia punctata type 2 | (Orphanet:309796) |
Roberts syndrome | (Orphanet:3103) |
Rothmund-Thomson syndrome | (Orphanet:2909) |
Rothmund-Thomson syndrome type 1 | (Orphanet:221008) |
Rothmund-Thomson syndrome type 2 | (Orphanet:221016) |
Rubinstein-Taybi syndrome due to CREBBP mutations | (Orphanet:353277) |
SEBASTIAN SYNDROME | (OMIM:605249) |
SHORT syndrome | (Orphanet:3163) |
SPONASTRIME dysplasia | (Orphanet:93357) |
STORM SYNDROME | (OMIM:185069) |
Sarcoidosis | (Orphanet:797) |
Scalp-ear-nipple syndrome | (Orphanet:2036) |
Schwartz-Jampel syndrome | (Orphanet:800) |
Senior-Loken syndrome | (Orphanet:3156) |
Senior-Loken syndrome 5 | (OMIM:609254) |
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis | (Orphanet:70595) |
Severe generalized recessive dystrophic epidermolysis bullosa | (Orphanet:79408) |
Short rib-polydactyly syndrome, Verma-Naumoff type | (Orphanet:93271) |
Short-rib thoracic dysplasia 5 with or without polydactyly | (OMIM:614376) |
Sialidosis type 1 | (Orphanet:812) |
Siegler-Brewer-Carey syndrome | (Orphanet:3167) |
Smith-Lemli-Opitz syndrome | (Orphanet:818) |
Snowflake vitreoretinal degeneration | (Orphanet:91496) |
Spastic ataxia - corneal dystrophy | (Orphanet:2572) |
Spastic paraparesis - deafness | (Orphanet:2815) |
Spinocerebellar ataxia with epilepsy | (Orphanet:254881) |
Spondylo-ocular syndrome | (Orphanet:85194) |
Spondylocarpotarsal synostosis | (Orphanet:3275) |
Spondyloepiphyseal dysplasia congenita | (Orphanet:94068) |
Steinert myotonic dystrophy | (Orphanet:273) |
Stickler syndrome | (Orphanet:828) |
Stickler syndrome type 1 | (Orphanet:90653) |
Stickler syndrome type 2 | (Orphanet:90654) |
Syndromic microphthalmia type 5 | (Orphanet:178364) |
THANATOPHORIC DYSPLASIA, GLASGOW VARIANT | (OMIM:273680) |
TRICHOTHIODYSTROPHY, PHOTOSENSITIVE | (OMIM:601675) |
Tetraamelia - multiple malformations | (Orphanet:3301) |
Tetrasomy 12p | (Orphanet:884) |
Townes-Brocks syndrome | (Orphanet:857) |
Transketolase deficiency | (ORPHA:488618) |
Treacher-Collins syndrome | (Orphanet:861) |
Tricho-oculo-dermo-vertebral syndrome | (Orphanet:3354) |
Tricho-retino-dento-digital syndrome | (Orphanet:1264) |
Trichomegaly - cataract - hereditary spherocytosis | (Orphanet:3362) |
Triploidy | (Orphanet:3376) |
Trisomy 13 | (Orphanet:3378) |
Trisomy 17p | (Orphanet:261290) |
Trisomy 18 | (Orphanet:3380) |
Upper limb defect - eye and ear abnormalities | (Orphanet:2489) |
Usher syndrome | (Orphanet:886) |
Usher syndrome type 1 | (Orphanet:231169) |
Usher syndrome type 2 | (Orphanet:231178) |
Usher syndrome type 3 | (Orphanet:231183) |
Uveal coloboma - cleft lip and palate - intellectual deficit | (Orphanet:1473) |
Vici syndrome | (Orphanet:1493) |
Vogt-Koyanagi-Harada disease | (Orphanet:3437) |
Von Hippel-Lindau disease | (Orphanet:892) |
WAGR syndrome | (Orphanet:893) |
WARBURG MICRO SYNDROME 2 | (OMIM:614225) |
WARBURG MICRO SYNDROME 3 | (OMIM:614222) |
WEILL-MARCHESANI SYNDROME 1 | (OMIM:277600) |
Wagner disease | (Orphanet:898) |
Walker-Warburg syndrome | (Orphanet:899) |
Weill-Marchesani syndrome | (Orphanet:3449) |
Werner syndrome | (Orphanet:902) |
Williams syndrome | (Orphanet:904) |
Wolfram syndrome 1 | (OMIM:222300) |
Wolfram-like syndrome | (ORPHA:411590) |
Woolly hair | (Orphanet:170) |
Woolly hair - hypotrichosis - everted lower lip - outstanding ears | (Orphanet:1409) |
X-linked Alport syndrome | (Orphanet:88917) |
X-linked dominant chondrodysplasia punctata | (Orphanet:35173) |
X-linked immunoneurologic disorder | (Orphanet:2571) |
X-linked intellectual deficit, Najm type | (Orphanet:163937) |
X-linked retinoschisis | (Orphanet:792) |
Xeroderma pigmentosum | (Orphanet:910) |
Xeroderma pigmentosum complementation group B | (Orphanet:276252) |
Xeroderma pigmentosum complementation group G | (Orphanet:276267) |
Yunis-Varon syndrome | (Orphanet:3472) |
Zellweger syndrome | (Orphanet:912) |
Zimmermann-Laband syndrome | (Orphanet:3473) |