Isolated Microphthalmia 2
Disease ID: disease_node_16608
Connections displayed (default: 10).
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| Dbxref | ICD10CM:Q11.0, MIM:610093, ORDO:2542 |
|---|---|
| Subclassof | DOID_0050737, DOID_0080637 |
| Data Source | DOID |
| Synonyms | MCOP2 |
| Doid Label | isolated microphthalmia 2 |
| Doid Description | An isolated microphthalmia characterized by autosomal recessive inheritance of bilateral profound microphthalmia without associated anomalies and with normal intelligence that has_material_basis_in homozygous mutation in the CHX10 gene on chromosome 14q24. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16608 |
| Doid Id | DOID_0060839 |
| Label | Isolated Microphthalmia 2 |
- Outgoing r'ship
SUBCLASS_OFto/from Isolated Microphthalmia(ID:disease_node_16604) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)