OBO ID: DOID:0111513
Term Name: metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome Search Ontology:
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 metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RUNX2 Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 156510
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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