Microphthalmia With Limb Anomalies
Disease ID: disease_node_20326
Connections displayed (default: 10).
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| Dbxref | ICD10CM:Q87.2, MIM:206920, ORDO:1106 |
|---|---|
| Subclassof | DOID_225, DOID_0050737 |
| Data Source | DOID |
| Synonyms | MLA, OAS, Waardenburg anophthalmia syndrome, anophthalmia-syndactyly syndrome, ophthalmoacromelic syndrome |
| Doid Label | microphthalmia with limb anomalies |
| Doid Description | A syndrome that is characterized by autosomal recessive inheritance of bilateral or unilateral clinical anophthalmia or microphthalmia and synostosis, syndactyly, oligodactyly and/or polydactyly that has_material_basis_in homozygous mutation in the SMOC1 gene on chromosome 14q24. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20326 |
| Doid Id | DOID_0060861 |
| Label | Microphthalmia With Limb Anomalies |
- Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)