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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

Referenced OMIM:
OMIM:607932 - MICROPHTHALMIA, SYNDROMIC 6; MCOPS6

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : bmp4

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): autosomal dominant disease (is_a), syndromic microphthalmia (is_a)


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