Terminology Service for NFDI4Health
Incontinentia Pigmenti
Go to external page
http://purl.obolibrary.org/obo/NCIT_C84787
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. [ ]
Term info
Label
Incontinentia Pigmenti
Synonyms
- Incontinentia Pigmenti
- Incontinentia Pigmenti Syndrome
Subsets
NCIT_C99147, NCIT_C90259
Contributing Source
NICHD
Has NICHD Parent
http://purl.obolibrary.org/obo/NCIT_C3101, http://purl.obolibrary.org/obo/NCIT_C97174
NICHD Hierarchy Term
Incontinentia Pigmenti
Preferred Name
Incontinentia Pigmenti
Semantic Type
Disease or Syndrome
UMLS CUI
C0021171
code
C84787