Syndromic Microphthalmia 1
Disease ID: disease_node_16603
Connections displayed (default: 10).
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| Dbxref | GARD:5066, GARD:87, MIM:309800, ORDO:568, ORDO:85275, SNOMEDCT_US_2023_03_01:717222003, UMLS_CUI:C1844948 |
|---|---|
| Subclassof | DOID_0080636, DOID_0050735 |
| Data Source | DOID |
| Synonyms | syndromic microphthalmia 4, Lenz dysplasia, Lenz microphthalmia, Lenz type microphthalmia, MCOPS1 |
| Doid Label | syndromic microphthalmia 1 |
| Doid Description | A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or anophthalmia and defects in the skeletal and genitourinary system that has_material_basis_in mutation in the NAA10 gene on chromosome Xq28. In OMIM, a form of syndromic microphthalmia, formerly designated MCOPS4, has been found to be the same entity as MCOPS1. Type 4 obsoleted by OMIM, merged into type 1 [LS]. |
| Has Material Basis In | GENO_0000936 |
| Disease Node Id | disease_node_16603 |
| Doid Id | DOID_0111799 |
| Label | Syndromic Microphthalmia 1 |
| Doid Alternate Ids | DOID_0111810 |
- 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)