syndromic microphthalmia 14

Summary

DOID:0111802 - syndromic microphthalmia 14

Disease Ontology Definition:A syndromic microphthalmia characterized by microphthalmia with coloboma or clinical anophthalmia, with or without rhizomelic skeletal dysplasia that has_material_basis_in heterozygous or homozygous mutation in the MAB21L2 gene on chromosome 4q31.3.

Synonyms: colobomatous microphthalmia-rhizomelic dysplasia syndrome, MCOPS14, MCSKS, microphthalmia and/or coloboma with or without rhizomelic skeletal dysplasia, microphthalmia/coloboma and skeletal dysplasia syndrome

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

: mab21l2

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

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

Parent(s): autosomal genetic disease (is_a), syndromic microphthalmia (is_a)