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About: brachydactyly type C     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 C
described by
id
  • DOID:0110970
database_cross_reference
  • GARD:986
  • MESH:C537093
  • OMIM:113100
  • ORDO:93384
  • SNOMEDCT_US_2021_09_01:389169005
  • UMLS_CUI:C1300268
  • UMLS_CUI:C1862103
has_exact_synonym
  • BDC (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A brachydactyly characterized by rachymesophalangy of the index, middle and little fingers, hyperphalangy of the index and middle finger, and shortening of the 1st metacarpal that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11.
is topic of
is annotatedSource of
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