Search Ontology:
Human Disease

metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome

Term ID
DOID:0111513
Synonyms
  • metaphyseal dysplasia maxillary hypoplasia brachydactyly
  • metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly
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. (2)
References
Ontology
Human Disease   ( DOID:0111513 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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