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About: brachydactyly type A2     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
  • brachydactyly type A2
described by
id
  • DOID:0110965
database_cross_reference
  • GARD:979
  • MESH:C537089
  • OMIM:112600
  • ORDO:93396
  • SNOMEDCT_US_2021_09_01:720569006
  • UMLS_CUI:C1832702
has_exact_synonym
  • BDA2 (en)
  • Mohr-Wriedt type brachydactyly (en)
  • brachymesophalangy II (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A brachydactyly characterized by autosomal dominant inheritance of malformations of the middle phalanx of the index finger and anomalies of the second toe that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11 or heterozygous duplication in a regulatory element of BMP2 on chromosome 20p12.
is topic of
is annotatedSource of
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