Medical Subject Headings

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/MESH/C536214 http://purl.bioontology.org/ontology/MESH/C536214
Preferred Name	Crisponi syndrome
Synonyms	Sweating, cold-induced Sohar-Crisponi syndrome Cold-induced sweating syndrome 2 CNTF receptor-related disorders Cold-induced sweating syndrome 1 Cold-induced sweating syndrome
Type	http://www.w3.org/2002/07/owl#Class

altLabel	Sweating, cold-induced Sohar-Crisponi syndrome Cold-induced sweating syndrome 2 CNTF receptor-related disorders Cold-induced sweating syndrome 1 Cold-induced sweating syndrome See more See less
prefLabel	Crisponi syndrome
Scope Statement	Muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death CISS1: mutation in CRLF1; CISS2: mutation in CLCF1
type	http://www.w3.org/2002/07/owl#Class
tui	T047
Has mapping qualifier	http://purl.bioontology.org/ontology/MESH/Q000151
HM	D006945 D006228 D003645 D014313/Q000151 D019066
SC	3
TERMUI	T738634 T000898862 T000898859 T000898860 T000898857 T000898858 T000898861 See more See less
TH	OMIM (2013) GHR (2014) NLM (2017) ORD (2010)
MMR	20161108
notation	C536214
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
cui	C1848947 C1853198 C1832409
MeSH Frequency	30
DSC	20100825
Inverse of RB	0
Mapped to	http://purl.bioontology.org/ontology/MESH/D019066 http://purl.bioontology.org/ontology/MESH/D003645 http://purl.bioontology.org/ontology/MESH/D006945 http://purl.bioontology.org/ontology/MESH/D006228 http://purl.bioontology.org/ontology/MESH/D014313
MDA	20100825

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