Isolated Microphthalmia 8
Disease ID: disease_node_16606
Connections displayed (default: 10).
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| Dbxref | ICD10CM:Q11.0, MIM:615113, ORDO:2542 |
|---|---|
| Subclassof | DOID_0050737, DOID_0080637 |
| Data Source | DOID |
| Synonyms | MCOP8 |
| Doid Label | isolated microphthalmia 8 |
| Doid Description | An isolated microphthalmia characterized by bilateral severe microphthalmia autosomal recessive inheritance of that has_material_basis_in homozygous mutation in the ALDH1A3 gene on chromosome 15q26. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16606 |
| Doid Id | DOID_0060841 |
| Label | Isolated Microphthalmia 8 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Isolated Microphthalmia(ID:disease_node_16604) (Disease)