syndromic microphthalmia 8

Summary

DOID:0111803 - syndromic microphthalmia 8

Disease Ontology Definition:A syndromic microphthalmia characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs, prognathism and intellectual disability that has_material_basis_in mutation in a region of chromosome 6q21.

Synonyms: MCOPS8, MMEP syndrome, Viljoen-Smart syndrome, microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome, syndromic microphthalmia type 8,

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

: snx3

Other Model Organisms: AGR, 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)