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Summary Literature (0)
DOID:0060841 - isolated microphthalmia 8

Disease Ontology Definition:An isolated microphthalmia characterized by bilateral severe microphthalmia autosomal recessive inheritance of that has_material_basis_in homozygous mutation in the ALDH1A3 gene on chromosome 15q26.

Synonyms: MCOP8

Xenbase Genes : aldh1a3

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0014050 - isolated microphthalmia 8

MIM:
MIM:615113 - MICROPHTHALMIA, ISOLATED 8; MCOP8

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)