Retinal coloboma
Symptom Information:
Symptom ID: | HPO:0000480 | ||||||||||||||
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) Retinal coloboma(HPO:0000480) Coloboma(HPO:0000589) Retinal coloboma(HPO:0000480) MedDRA: Congenital, familial and genetic disorders(MedDRA:10010331) Eye disorders congenital(MedDRA:10015920) Retinal disorders congenital(MedDRA:10038855) Retinal coloboma(HPO:0000480) |
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Database Frequency: | 16 / 7739 | ||||||||||||||
Resource: |
All diseases associated with this symptom:
3C syndrome | (Orphanet:7) |
Acro-renal-ocular syndrome | (Orphanet:959) |
Branchio-oculo-facial syndrome | (Orphanet:1297) |
CHARGE syndrome | (Orphanet:138) |
Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome | (Orphanet:363741) |
Goldmann-Favre syndrome | (Orphanet:53540) |
Joubert syndrome 5 | (OMIM:610188) |
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7 | (OMIM:614497) |
MOMO syndrome | (Orphanet:2563) |
Okihiro syndrome | (Orphanet:93293) |
Peters-plus syndrome | (Orphanet:709) |
RETINOSCHISIS, AUTOSOMAL DOMINANT | (OMIM:180270) |
Renal coloboma syndrome | (Orphanet:1475) |
Townes-Brocks syndrome | (Orphanet:857) |
X-linked retinoschisis | (Orphanet:792) |
Zunich-Kaye syndrome | (Orphanet:3474) |