Syndromic Microphthalmia 12
Disease ID: disease_node_16602
Connections displayed (default: 10).
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| Dbxref | GARD:13235, MIM:615524 |
|---|---|
| Subclassof | DOID_0080636, DOID_0050739 |
| Data Source | DOID |
| Synonyms | MCOPS12, microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects |
| Doid Label | syndromic microphthalmia 12 |
| Doid Description | A syndromic microphthalmia characterized by bilateral microphthalmia, pulmonary hypoplasia, and diaphragmatic hernia that has_material_basis_in compound heterozygous or heterozygous mutation in the RARB gene on chromosome 3p24.2. |
| Has Material Basis In | GENO_0000934 |
| Disease Node Id | disease_node_16602 |
| Doid Id | DOID_0111800 |
| Label | Syndromic Microphthalmia 12 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Genetic Disease(ID:disease_node_15586) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndromic Microphthalmia(ID:disease_node_16597) (Disease)