Abnormality of the retina

Symptom Information:

Symptom ID: HPO:0000479
Retinal disease [HPO:0000479]
Cross references:
Is a (Direct Parents):
HPO         Retinal neoplasm
HPO         Yellow/white lesions of the retina
HPO         Abnormality of the fundus
HPO         Retinal thinning
HPO         Retinoschisis
Is a (Whole tree): HPO:
    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)
Database Frequency: 74 / 7739

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)