syndromic microphthalmia 6

Summary

DOID:0111805 - syndromic microphthalmia 6

Disease Ontology Definition:A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies that has_material_basis_in heterozygous mutation in the BMP4 gene on chromosome 14q22.2.

Synonyms: Bakrania-Ragge syndrome, MCOPS6, anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia, microphthalmia and pituitary anomalies, microphthalmia with brain and digit anomalies, syndromic microphthalmia type 6,

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

: bmp4

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

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

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