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About: metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

AttributesValues
type
subClassOf
label
  • metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
described by
id
  • DOID:0111513
database_cross_reference
  • GARD:3568
  • OMIM:156510
  • ORDO:2504
has_exact_synonym
  • metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly (en)
  • metaphyseal dysplasia maxillary hypoplasia brachydactyly (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • 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 RUNX2 on chromosome 6p21.1.
is topic of
is annotatedSource of
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