Isolated Microphthalmia 6
Disease ID: disease_node_16612
Connections displayed (default: 10).
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| Dbxref | ICD10CM:Q11.0, MIM:613517, ORDO:2542 |
|---|---|
| Subclassof | DOID_0050737, DOID_0080637 |
| Data Source | DOID |
| Synonyms | MCOP6, posterior nonsyndromic microphthalmia |
| Doid Label | isolated microphthalmia 6 |
| Doid Description | An isolated microphthalmia characterized by autosomal recessive inheritance reduction in eye size that is restricted to the posterior segment of the eye, extreme hyperopia, and short axial length that has_material_basis_in homozygous or compound heterozygous mutation in the PRSS56 gene on chromosome 2q37. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16612 |
| Doid Id | DOID_0060835 |
| Label | Isolated Microphthalmia 6 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Isolated Microphthalmia(ID:disease_node_16604) (Disease)