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Metadata
ID	DOID:0060839
Name	isolated microphthalmia 2
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. https://www.ncbi.nlm.nih.gov/pubmed/15257456, https://www.ncbi.nlm.nih.gov/pubmed/3378363
Xrefs	ICD10CM:Q11.0 OMIM:610093 ORDO:2542
Subsets	DO_rare_slim
Synonyms	MCOP2 [EXACT]
Parent Relationships	is_a isolated microphthalmia is_a autosomal recessive disease