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

AttributesValues
type
subClassOf
label
  • CHILD syndrome
described by
id
  • DOID:0111822
database_cross_reference
  • GARD:6039
  • MESH:C562515
  • OMIM:308050
  • ORDO:139
  • SNOMEDCT_US_2021_09_01:17608003
  • UMLS_CUI:C0265267
has_exact_synonym
  • CHILD nevus
  • congenital hemidysplasia with ichthyosiform nevus and limbs defects
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A syndrome characterized by congenital hemidysplasia, ichythyosiform erythrodema, and limb defects that has_material_basis_in heterozygous mutation in NSDHL on chromosome Xq28.
is topic of
is annotatedSource of
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