Ocular coloboma
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 1 |
| OrphanetNr: | 194 |
| OMIM Id: |
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| ICD-10: |
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| UMLs: |
C0009363 |
| MeSH: |
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| MedDRA: |
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| Snomed: |
92828000 93390002 |
Prevalence, inheritance and age of onset:
| Prevalence: | 8 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal dominant Autosomal recessive X-linked recessive Not applicable [Orphanet] |
| Age of onset: |
Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Nonsyndromic developmental defect of the eye
-Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease Rare eye disease due to a differentiation anomaly -Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease |
Symptom Information:
|
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(HPO:0000612) | Iris coloboma | Very frequent [Orphanet] | 116 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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