metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome

Summary

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 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

: runx2

MIM:

MIM:156510 - METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY; MDMHB

MIM:156510 - METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY; MDMHB

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

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

Parent(s): autosomal dominant disease (is_a), osteochondrodysplasia (is_a)