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Summary Literature (0)
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 BMP4 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 : 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)