Crisponi/Cold-Induced Sweating Syndrome-2

Preferred Label : Crisponi/Cold-Induced Sweating Syndrome-2;

NCIt synonyms : CISS2;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the CLCF1 gene, encoding cardiotrophin-like cytokine factor 1. It is characterized by cold-induced sweating syndrome, dysmorphic features, poor sucking reflex, and temperature spikes presenting at infancy. It is clinically indistinguishable from Crisponi/cold-induced sweating syndrome-1.;

Details

Origin ID

C173148;

UMLS CUI

C1853198;

Currated CISMeF NLP mapping
- Cold-Induced sweating syndrome 2 [MeSH concept]
- Crisponi/cold-induced sweating syndrome 2 [OMIM Phenotype]
See also inter- (CISMeF)
- cardiotrophin like cytokine factor 1 [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cold-Induced sweating syndrome 2 [MeSH concept]
- Crisponi/cold-induced sweating syndrome 2 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- CLCF1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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