|
DOID:0111513 - metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome
Disease Ontology Definition:An osteochondrodysplasia characterized by metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, variable brachydactyly, and dystrophic teeth that has_material_basis_in heterozygous duplication of the RUNX2 gene on chromosome 6p21.1.
Synonyms: metaphyseal dysplasia maxillary hypoplasia brachydactyly, metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly,
Xenbase Genes : runx2
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee