Retinal dystrophy
Symptom Information:
Symptom ID: | HPO:0000556 | |||||||||||||||||||||||
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 posterior segment of the globe(HPO:0004329) Abnormality of the fundus(HPO:0001098) Abnormality of the retina(HPO:0000479) Retinal dystrophy(HPO:0000556) MedDRA: Eye disorders(MedDRA:10015919) Ocular structural change, deposit and degeneration NEC(MedDRA:10042261) Retinal structural change, deposit and degeneration(MedDRA:10038896) Retinal dystrophy(HPO:0000556) |
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Database Frequency: | 65 / 7739 | |||||||||||||||||||||||
Resource: |
All diseases associated with this symptom:
ARIMA SYNDROME | (OMIM:243910) |
Alström syndrome | (Orphanet:64) |
Amaurosis - hypertrichosis | (Orphanet:1021) |
Ataxia - hypogonadism - choroidal dystrophy | (Orphanet:1180) |
Autosomal recessive chorioretinopathy-microcephaly | (Orphanet:2518) |
Bardet-Biedl syndrome | (Orphanet:110) |
Bardet-Biedl syndrome 1 | (OMIM:209900 ) |
Bardet-Biedl syndrome 10 | (OMIM:615987) |
Bardet-Biedl syndrome 12 | (OMIM:615989) |
Bardet-Biedl syndrome 16 | (OMIM:615993) |
Bardet-Biedl syndrome 5 | (OMIM:615983) |
Bardet-Biedl syndrome 6 | (OMIM:605231) |
Bardet-Biedl syndrome 7 | (OMIM:615984) |
Bothnia retinal dystrophy | (Orphanet:85128) |
CATARACT 16, MULTIPLE TYPES | (OMIM:613763) |
CLN11 disease | (Orphanet:314629) |
Cranioectodermal dysplasia | (Orphanet:1515) |
Cranioectodermal dysplasia 1 | (OMIM:218330) |
Donnai-Barrow syndrome | (Orphanet:2143) |
Familial drusen | (Orphanet:75376) |
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | (Orphanet:713) |
Hypermethioninemia encephalopathy due to adenosine kinase deficiency | (Orphanet:289290) |
Infantile cerebellar-retinal degeneration | (Orphanet:313850) |
Joubert syndrome | (Orphanet:475) |
Joubert syndrome 1 | (OMIM:213300) |
Joubert syndrome 15 | (OMIM:614464) |
Joubert syndrome 16 | (OMIM:614465) |
Joubert syndrome 2 | (OMIM:608091) |
Joubert syndrome 21 | (OMIM:615636) |
Joubert syndrome 28 | (OMIM:617121) |
Joubert syndrome 3 | (OMIM:608629) |
Joubert syndrome with ocular defect | (Orphanet:220493) |
Joubert syndrome with oculorenal defect | (Orphanet:2318) |
Leber congenital amaurosis 10 | (OMIM:611755) |
Leber congenital amaurosis 11 | (OMIM:613837) |
Leber congenital amaurosis 13 | (OMIM:612712) |
MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENISSYNDROME | (OMIM:610156) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 1 | (OMIM:236670) |
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 MENTAL RETARDATION),TYPE B, 1 | (OMIM:613155) |
Maternally-inherited diabetes and deafness | (Orphanet:225) |
Microphthalmia with brain and digit anomalies | (Orphanet:139471) |
NEWFOUNDLAND ROD-CONE DYSTROPHY | (OMIM:607476) |
Nephronophthisis 1 | (OMIM:256100) |
Nephronophthisis 12 | (OMIM:613820) |
OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY | (OMIM:212550) |
PEROXISOME BIOGENESIS DISORDER 3B | (OMIM:266510) |
PEROXISOME BIOGENESIS DISORDER 6B | (OMIM:614871) |
PEROXISOME BIOGENESIS DISORDER 7B | (OMIM:614873) |
PEROXISOME BIOGENESIS DISORDER 8B | (OMIM:614877) |
POLYCYSTIC KIDNEY, CATARACT, AND CONGENITAL BLINDNESS | (OMIM:263100) |
PONTOCEREBELLAR HYPOPLASIA, TYPE 1B | (OMIM:614678) |
PORETTI-BOLTSHAUSER SYNDROME | (OMIM:615960) |
Progressive retinal dystrophy due to retinol transport defect | (Orphanet:352718) |
RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELLABNORMALITIES | (OMIM:616079) |
RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME | (OMIM:616108) |
RETINAL DYSTROPHY, RETICULAR PIGMENTARY, OF POSTERIOR POLE | (OMIM:267800) |
RETINOPATHY, PERICENTRAL PIGMENTARY, DOMINANT | (OMIM:180210) |
Roifman syndrome | (Orphanet:353298) |
Ruvalcaba syndrome | (Orphanet:3121) |
Senior-Loken syndrome 1 | (OMIM:266900) |
Senior-Loken syndrome 8 | (OMIM:616307) |
Senior-Loken syndrome 9 | (OMIM:616629) |
Syndromic microphthalmia type 5 | (Orphanet:178364) |