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DO Term : metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome [DOID:0111513] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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:
ORDO:2504,
GARD:3568,
OMIM:156510,
156510,
metaphyseal dysplasia maxillary hypoplasia brachydactyly,
metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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