About: Harlequin Ichthyosis     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • Harlequin Ichthyosis
rdfs:subClassOf
Has_NICHD_Parent
Concept_In_Subset
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Harlequin Ichthyosis
UMLS_CUI
  • C0239849
Contributing_Source
  • NICHD
FULL_SYN
  • Harlequin IchthyosisPTNICHD
  • Harlequin IchthyosisPTNCI
DEFINITION
  • A very rare and usually lethal autosomal recessive inherited disorder of the skin caused by mutations in the ABCA12 gene. It is characterized by the presence of hard and thick skin. There are diamond-like plates formed in the skin which are separated by fissures.NCI
code
  • C98934
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