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Summary Literature (0)
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

Xenbase Genes : vsx2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0012409 - isolated microphthalmia 2

MIM:
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)