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Disease Ontology Browser
isolated microphthalmia 6 (DOID:0060835)
Alliance: disease page
Synonyms: MCOP6; posterior nonsyndromic microphthalmia
Alt IDs: OMIM:613517, ICD10CM:Q11.0, ORDO:2542
Definition: An isolated microphthalmia characterized by autosomal recessive inheritance reduction in eye size that is restricted to the posterior segment of the eye, extreme hyperopia, and short axial length that has_material_basis_in homozygous or compound heterozygous mutation in the PRSS56 gene on chromosome 2q37.

Disease References using Mouse Models (1)
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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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory