Syndromic Microphthalmia 13
Disease ID: disease_node_16599
Connections displayed (default: 10).
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| Dbxref | MIM:300915, ORDO:431140 |
|---|---|
| Subclassof | DOID_0050735, DOID_0080636 |
| Data Source | DOID |
| Synonyms | MCOPS13, Maine microphthalmos, X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome, colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation |
| Doid Label | syndromic microphthalmia 13 |
| Doid Description | A syndromic microphthalmia characterized by colobomatous microphthalmia, microcephaly, short stature, and psychomotor retardation that has_material_basis_in mutation in the HMGB3 gene on chromosome Xq28. |
| Has Material Basis In | GENO_0000936 |
| Disease Node Id | disease_node_16599 |
| Doid Id | DOID_0111811 |
| Label | Syndromic Microphthalmia 13 |
- Outgoing r'ship
SUBCLASS_OFto/from Syndromic Microphthalmia(ID:disease_node_16597) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from X-Linked Monogenic Disease(ID:disease_node_13360) (Disease)