Optic nerve coloboma
Symptom Information:
Symptom ID: | HPO:0000588 | ||||||||
Synonyms: |
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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 optic nerve(HPO:0000587) Optic nerve coloboma(HPO:0000588) Coloboma(HPO:0000589) Optic nerve coloboma(HPO:0000588) MedDRA: |
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Database Frequency: | 27 / 7739 | ||||||||
Resource: |
All diseases associated with this symptom:
1p36 deletion syndrome | (Orphanet:1606) |
2q31.1 microdeletion syndrome | (Orphanet:251014) |
Acro-renal-ocular syndrome | (Orphanet:959) |
Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia | (Orphanet:52055) |
Aicardi syndrome | (Orphanet:50) |
Aniridia | (Orphanet:77) |
Baraitser-Winter syndrome | (Orphanet:2995) |
CHARGE syndrome | (Orphanet:138) |
Congenital sodium diarrhea | (Orphanet:103908) |
Cornelia de Lange syndrome | (Orphanet:199) |
Curry-Jones syndrome | (Orphanet:1553) |
Distal 22q11.2 microduplication syndrome | (Orphanet:261337) |
Gorlin syndrome | (Orphanet:377) |
Hallermann-Streiff syndrome | (Orphanet:2108) |
Hypomandibular faciocranial dysostosis | (Orphanet:1790) |
Joubert syndrome | (Orphanet:475) |
Joubert syndrome 1 | (OMIM:213300) |
Joubert syndrome 2 | (OMIM:608091) |
Joubert syndrome 5 | (OMIM:610188) |
Joubert syndrome with hepatic defect | (Orphanet:1454) |
MICROPHTHALMIA, SYNDROMIC 1 | (OMIM:309800) |
Microphthalmia, Lenz type | (Orphanet:568) |
Morning glory syndrome | (Orphanet:35737) |
Pelvis-shoulder dysplasia | (Orphanet:2839) |
Proximal 16p11.2 microdeletion syndrome | (Orphanet:261197) |
Renal coloboma syndrome | (Orphanet:1475) |
Warsaw breakage syndrome | (Orphanet:280558) |