Abnormality of the retina
Symptom Information:
Symptom ID: | HPO:0000479 | ||||||||||
Synonyms: |
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Quality: | |||||||||||
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) MedDRA: |
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Database Frequency: | 74 / 7739 | ||||||||||
Resource: |
All diseases associated with this symptom:
1q21.1 microdeletion syndrome | (Orphanet:250989) |
2q31.1 microdeletion syndrome | (Orphanet:251014) |
3C syndrome | (Orphanet:7) |
8p11.2 deletion syndrome | (Orphanet:251066) |
Abruzzo-Erickson syndrome | (Orphanet:921) |
Acro-renal-ocular syndrome | (Orphanet:959) |
Aicardi syndrome | (Orphanet:50) |
Aplasia cutis congenita - intestinal lymphangiectasia | (Orphanet:1116) |
Arrhinia | (Orphanet:1134) |
Baraitser-Winter syndrome | (Orphanet:2995) |
Branchio-oculo-facial syndrome | (Orphanet:1297) |
CHARGE syndrome | (Orphanet:138) |
Cat-eye syndrome | (Orphanet:195) |
Cerebro-reno-digital syndrome | (Orphanet:1396) |
Chondrodysplasia - disorder of sex development | (Orphanet:1422) |
Choroideremia - deafness - obesity | (Orphanet:1435) |
Cockayne syndrome | (Orphanet:191) |
Cohen syndrome | (Orphanet:193) |
Coloboma of macula - brachydactyly type B | (Orphanet:1471) |
Curry-Jones syndrome | (Orphanet:1553) |
Donnai-Barrow syndrome | (Orphanet:2143) |
Duane retraction syndrome | (Orphanet:233) |
Familial hypomagnesemia - hypercalciuria - nephrocalcinosis - severe ocular involvement | (Orphanet:2196) |
Gaucher disease type 3 | (Orphanet:77261) |
Hepatic fibrosis - renal cysts - intellectual deficit | (Orphanet:2031) |
Holoprosencephaly | (Orphanet:2162) |
Holoprosencephaly - radial heart renal anomalies | (Orphanet:3186) |
Humero-radial synostosis | (Orphanet:3265) |
Incontinentia pigmenti | (Orphanet:464) |
Ito hypomelanosis | (Orphanet:435) |
Joubert syndrome with hepatic defect | (Orphanet:1454) |
Joubert syndrome with ocular defect | (Orphanet:220493) |
Joubert syndrome with oculorenal defect | (Orphanet:2318) |
Kabuki syndrome | (Orphanet:2322) |
Kapur-Toriello syndrome | (Orphanet:2328) |
Leber plus disease | (Orphanet:99718) |
MOMO syndrome | (Orphanet:2563) |
Meckel syndrome | (Orphanet:564) |
Micro syndrome | (Orphanet:2510) |
Microcephaly - lymphedema - chorioretinopathy | (Orphanet:2526) |
Microcornea - posterior megalolenticonus - persistent fetal vasculature - coloboma | (Orphanet:231736) |
Microphthalmia with brain and digit anomalies | (Orphanet:139471) |
Microphthalmia with linear skin defects syndrome | (Orphanet:2556) |
Microphthalmia, Lenz type | (Orphanet:568) |
Microtia - eye coloboma - imperforation of the nasolacrimal duct | (Orphanet:139450) |
Mucopolysaccharidosis type 2 | (Orphanet:580) |
Mulibrey nanism | (Orphanet:2576) |
Multiple non-ossifying fibromatosis | (Orphanet:2029) |
Mycophenolate mofetil embryopathy | (Orphanet:268249) |
Neurocutaneous melanocytosis | (Orphanet:2481) |
Non-rhizomelic chondrodysplasia punctata | (Orphanet:176) |
Norrie disease | (Orphanet:649) |
Oculocerebrorenal syndrome | (Orphanet:534) |
Olivopontocerebellar atrophy - deafness | (Orphanet:2732) |
Orofaciodigital syndrome type 8 | (Orphanet:2755) |
Osteopetrosis | (Orphanet:2781) |
Osteosclerosis - ichthyosis - premature ovarian failure | (Orphanet:75325) |
Otodental syndrome | (Orphanet:2791) |
Pilotto syndrome | (Orphanet:2894) |
Preaxial polydactyly - colobomata - intellectual deficit | (Orphanet:2921) |
Proteus syndrome | (Orphanet:744) |
Pseudoxanthoma elasticum | (Orphanet:758) |
Renal coloboma syndrome | (Orphanet:1475) |
Short stature - intellectual deficit - eye anomalies - cleft lip/palate | (Orphanet:2649) |
Syndactyly - telecanthus - anogenital and renal malformations | (Orphanet:140952) |
Temtamy syndrome | (Orphanet:1777) |
Townes-Brocks syndrome | (Orphanet:857) |
Upper limb defect - eye and ear abnormalities | (Orphanet:2489) |
Uveal coloboma - cleft lip and palate - intellectual deficit | (Orphanet:1473) |
Walker-Warburg syndrome | (Orphanet:899) |
X-linked intellectual deficit, Najm type | (Orphanet:163937) |
X-linked retinoschisis | (Orphanet:792) |
Zellweger syndrome | (Orphanet:912) |
Zunich-Kaye syndrome | (Orphanet:3474) |