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DOID:0060839 - isolated microphthalmia 2
Disease Ontology Definition:An isolated microphthalmia characterized by autosomal recessive inheritance of bilateral profound microphthalmia without associated anomalies and with normal intelligence that has_material_basis_in homozygous mutation in the CHX10 gene on chromosome 14q24.
Synonyms: MCOP2
Echinobase Genes
:
vsx2
| MIM:610093 - microphthalmia, isolated 2; mcop2 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
isolated microphthalmia (is_a),
microphthalmia (is_a)