Syndromic Microphthalmia 14
Disease ID: disease_node_16601
Connections displayed (default: 10).
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| Dbxref | MIM:615877, ORDO:424099 |
|---|---|
| Subclassof | DOID_0080636, DOID_0050739 |
| Data Source | DOID |
| Synonyms | MCOPS14, MCSKS, colobomatous microphthalmia-rhizomelic dysplasia syndrome, microphthalmia and/or coloboma with or without rhizomelic skeletal dysplasia, microphthalmia/coloboma and skeletal dysplasia syndrome |
| Doid Label | syndromic microphthalmia 14 |
| Doid Description | A syndromic microphthalmia characterized by microphthalmia with coloboma or clinical anophthalmia, with or without rhizomelic skeletal dysplasia that has_material_basis_in heterozygous or homozygous mutation in the MAB21L2 gene on chromosome 4q31.3. |
| Has Material Basis In | GENO_0000934 |
| Disease Node Id | disease_node_16601 |
| Doid Id | DOID_0111802 |
| Label | Syndromic Microphthalmia 14 |
- Outgoing r'ship
SUBCLASS_OFto/from Syndromic Microphthalmia(ID:disease_node_16597) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Genetic Disease(ID:disease_node_15586) (Disease)