About: Incontinentia Pigmenti     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
  • Incontinentia Pigmenti
rdfs:subClassOf
Has_NICHD_Parent
Concept_In_Subset
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Incontinentia Pigmenti
UMLS_CUI
  • C0021171
Contributing_Source
  • NICHD
FULL_SYN
  • Incontinentia PigmentiPTNCI
  • Incontinentia Pigmenti SyndromePTNICHD
DEFINITION
  • A rare disorder caused by mutations in the IKBKG gene. It is characterized by skin abnormalities, alopecia, dystrophic nails, and abnormal tooth shape. The skin changes evolve from an initial blistering rash, to wart-like lesions, and eventually to hypopigmentation.NCI
code
  • C84787
http://linked.open...y/mesh/hasConcept
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