Preferred Label : Indifference to pain, congenital, autosomal recessive;
Symbol : CIP;
CISMeF acronym : CIP; HSAN2D;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Insensitivity to pain, channelopathy-associated; Congenital analgesia, autosomal recessive; Asymbolia for pain;
Included titles and symbols : Neuropathy, hereditary sensory and autonomic, type iid; HSAN2D;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the voltage-gated sodium channel, type IX, alpha subunit gene
(SCN9A, 603415.0005);
Laboratory abnormalities : Normal axonal flare response after intradermal histamine injection;
Prefixed ID : #243000;
Origin ID : 243000;
UMLS CUI : C1855739;
Automatic exact mappings (from CISMeF team)
Broader ORDO disease(s)
CISMeF manual mappings
Currated CISMeF NLP mapping
Genes related to phenotype
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)