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Echinobase
Summary Literature (0)
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,

Echinobase Genes :


OMIM:
MIM:309800 - microphthalmia, syndromic 1; mcops1

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): X-linked disease (is_a)