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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, microphthalmia with brain and digit anomalies, syndromic microphthalmia type 6, microphthalmia and pituitary anomalies, anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia
Xenbase Genes

MIM:607932 - MICROPHTHALMIA, SYNDROMIC 6; MCOPS6 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee