syndromic microphthalmia 9

Summary

DOID:0111807 - syndromic microphthalmia 9

Disease Ontology Definition:A syndromic microphthalmia characterized by bilateral clinical anophthalmia, pulmonary hypoplasia or aplasia, cardiac malformations, and diaphragmatic defects that has_material_basis_in homozygous or compound heterozygous mutation in the STRA6 gene on chromosome 15q24.1.

Synonyms: Matthew-Wood syndrome, anophthalmia-pulmonary hypoplasia syndrome, anophthalmia/microphthalmia and pulmonary hypoplasia, clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations, pulmonary agenesis microphthalmi and diaphragmatic defect, spear 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

: stra6

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

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

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