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About: split hand-foot malformation 6     Goto   Sponge   Distinct   Permalink

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

AttributesValues
type
subClassOf
label
  • split hand-foot malformation 6
described by
id
  • DOID:0090026
database_cross_reference
  • ICD10CM:Q71.6
  • ICD9CM:755.58
  • MESH:C574275
  • OMIM:225300
  • ORDO:2440
  • SNOMEDCT_US_2021_09_01:81208006
  • UMLS_CUI:C0265554
has_exact_synonym
  • SHFM6 (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A split-hand/foot malformation that has_material_basis_in homozygous mutation in the WNT10B gene on chromosome 12q13.
is topic of
is annotatedSource of
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