Chorioretinal coloboma
Symptom Information:
Symptom ID: | HPO:0000567 | |||||||||||||||
Synonyms: |
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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) Coloboma(HPO:0000589) Retinal coloboma(HPO:0000480) Chorioretinal coloboma(HPO:0000567) Choroid coloboma(HPO:0000611) Chorioretinal coloboma(HPO:0000567) Abnormality of the globe(HPO:0012374) Abnormality of the uvea(HPO:0000553) Abnormality of the choroid(HPO:0000610) Chorioretinal abnormality(HPO:0000532) Chorioretinal coloboma(HPO:0000567) Choroid coloboma(HPO:0000611) Chorioretinal coloboma(HPO:0000567) Abnormality of the posterior segment of the globe(HPO:0004329) Abnormality of the fundus(HPO:0001098) Abnormality of the choroid(HPO:0000610) Chorioretinal abnormality(HPO:0000532) Chorioretinal coloboma(HPO:0000567) Choroid coloboma(HPO:0000611) Chorioretinal coloboma(HPO:0000567) Abnormality of the retina(HPO:0000479) Retinal coloboma(HPO:0000480) Chorioretinal coloboma(HPO:0000567) Chorioretinal abnormality(HPO:0000532) Chorioretinal coloboma(HPO:0000567) MedDRA: Congenital, familial and genetic disorders(MedDRA:10010331) Eye disorders congenital(MedDRA:10015920) Retinal disorders congenital(MedDRA:10038855) Chorioretinal coloboma(HPO:0000567) |
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Database Frequency: | 26 / 7739 | |||||||||||||||
Resource: |
All diseases associated with this symptom:
ARIMA SYNDROME | (OMIM:243910) |
BARAITSER-WINTER SYNDROME 1 | (OMIM:243310) |
Baraitser-Winter syndrome | (Orphanet:2995) |
CRANIOSYNOSTOSIS-MENTAL RETARDATION-CLEFTING SYNDROME | (OMIM:218650) |
Cat-eye syndrome | (Orphanet:195) |
Deaf blind hypopigmentation syndrome, Yemenite type | (Orphanet:3214) |
Disorder of sex development - intellectual deficit | (Orphanet:2983) |
Focal dermal hypoplasia | (Orphanet:2092) |
Goldmann-Favre syndrome | (Orphanet:53540) |
Hallermann-Streiff syndrome | (Orphanet:2108) |
Intellectual deficit, X-linked, Kroes type | (Orphanet:163961) |
Jacobsen syndrome | (Orphanet:2308) |
Joubert syndrome | (Orphanet:475) |
Joubert syndrome 1 | (OMIM:213300) |
Joubert syndrome 2 | (OMIM:608091) |
Joubert syndrome 6 | (OMIM:610688) |
Joubert syndrome with oculorenal defect | (Orphanet:2318) |
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE III | (OMIM:210730) |
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7 | (OMIM:614497) |
MICROPHTHALMIA, SYNDROMIC 1 | (OMIM:309800) |
OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY | (OMIM:212550) |
RETINOSCHISIS, AUTOSOMAL DOMINANT | (OMIM:180270) |
Temtamy syndrome | (Orphanet:1777) |
Townes-Brocks syndrome | (Orphanet:857) |
Upper limb defect - eye and ear abnormalities | (Orphanet:2489) |
X-linked retinoschisis | (Orphanet:792) |