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Crisponi syndrome MeSH Supplementary Concept Data 2024


MeSH Supplementary
Crisponi syndrome
Unique ID
C536214
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C536214
Entry Term(s)
CNTF receptor-related disorders
Cold-induced sweating syndrome
Cold-induced sweating syndrome 1
Cold-induced sweating syndrome 2
Sohar-Crisponi syndrome
Sweating, cold-induced
Registry Number
0
Heading Mapped to
*Death, Sudden
*Hand Deformities, Congenital
*Hyperhidrosis
Trismus / *congenital
*Facies
Frequency
30
Note
Muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death CISS1: mutation in CRLF1; CISS2: mutation in CLCF1
Date of Entry
2010/08/25
Revision Date
2016/11/08
Crisponi syndrome Preferred
Cold-induced sweating syndrome 1 Narrower
Cold-induced sweating syndrome 2 Narrower
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