Terminology Service for NFDI4Health
Congenital Insensitivity to Pain with Anhidrosis
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http://purl.obolibrary.org/obo/NCIT_C118633
A rare, autosomal recessive inherited disorder caused by mutations in the NTRK1 gene. It is characterized by inability to feel pain and temperature that leads to repeated unintentional self-injuries, and decreased or absent sweating that leads to hyperpyrexia and febrile seizures. [ ]
Term info
Label
Congenital Insensitivity to Pain with Anhidrosis
Synonyms
- CIPA
- Congenital Insensitivity to Pain with Anhidrosis
Preferred Name
Congenital Insensitivity to Pain with Anhidrosis
Semantic Type
Disease or Syndrome
UMLS CUI
C0020074
code
C118633