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About: split hand-foot malformation 1     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
  • split hand-foot malformation 1
described by
id
  • DOID:0090021
database_cross_reference
  • ICD10CM:Q71.6
  • OMIM:183600
  • ORDO:2440
has_exact_synonym
  • SHFD1 (en)
  • SHFM1 (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A split-hand/foot malformation that has_material_basis_in contiguous gene mutations caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the DSS1, DLX5, and DLX6 genes and possible regulatory elements in the region.
is topic of
is annotatedSource of
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