syndromic microphthalmia 1

Summary

DOID:0111799 - syndromic microphthalmia 1

Disease Ontology 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.

Synonyms: Lenz dysplasia, Lenz microphthalmia, Lenz type microphthalmia, MCOPS1, syndromic microphthalmia 4

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: naa10, bcor

MIM:

MIM:309800 - MICROPHTHALMIA, SYNDROMIC 1; MCOPS1

MIM:309800 - MICROPHTHALMIA, SYNDROMIC 1; MCOPS1

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): syndromic microphthalmia (is_a), X-linked monogenic disease (is_a)