isolated microphthalmia 2 Disease Ontology Browser

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Disease Ontology Browser

isolated microphthalmia 2 (DOID:0060839)
Alliance: disease page
Synonyms: MCOP2
Alt IDs: OMIM:610093, ICD10CM:Q11.0, ORDO:2542
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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