syndromic microphthalmia 1 Disease Ontology Browser

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syndromic microphthalmia 1 (DOID:0111799)
Alliance: disease page
Synonyms: Lenz dysplasia; Lenz microphthalmia; Lenz type microphthalmia; MCOPS1; syndromic microphthalmia 4
Alt IDs: OMIM:309800, ORDO:568, ORDO:85275, UMLS_CUI:C1844948
Definition: A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or anophthalmia and defects in the skeletal and genitourinary system that has_material_basis_in mutation in the NAA10 gene on chromosome Xq28.

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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