Chorioretinal dysplasia
Symptom Information:
Symptom ID: | HPO:0007731 | ||||||||||||||||||||||
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) 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) Chorioretinal abnormality(HPO:0000532) Chorioretinal dysplasia(HPO:0007731) Abnormality of the choroid(HPO:0000610) Chorioretinal abnormality(HPO:0000532) Chorioretinal dysplasia(HPO:0007731) Abnormality of the uvea(HPO:0000553) Abnormality of the choroid(HPO:0000610) Chorioretinal abnormality(HPO:0000532) Chorioretinal dysplasia(HPO:0007731) MedDRA: Eye disorders(MedDRA:10015919) Ocular structural change, deposit and degeneration NEC(MedDRA:10042261) Retinal structural change, deposit and degeneration(MedDRA:10038896) Chorioretinal dysplasia(HPO:0007731) |
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Database Frequency: | 16 / 7739 | ||||||||||||||||||||||
Resource: |
All diseases associated with this symptom:
Alström syndrome | (Orphanet:64) |
Autosomal recessive chorioretinopathy-microcephaly | (Orphanet:2518) |
Bardet-Biedl syndrome | (Orphanet:110) |
CATARACT 16, MULTIPLE TYPES | (OMIM:613763) |
Cranioectodermal dysplasia 1 | (OMIM:218330) |
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | (Orphanet:713) |
Joubert syndrome 1 | (OMIM:213300) |
Joubert syndrome 16 | (OMIM:614465) |
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3 | (OMIM:616335) |
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) |
Microcephaly - lymphedema - chorioretinopathy | (Orphanet:2526) |
PONTOCEREBELLAR HYPOPLASIA, TYPE 1B | (OMIM:614678) |