Preferred Label : monilethrix;
MeSH definition : Rare autosomal dominant disorder of the hair shaft. The clinical features of the disease
include HYPOTRICHOSIS, dry, and/or brittle hair, with varying degrees of ALOPECIA.
Mutations in the hair-specific keratin genes KRTHB1, KRTHB3, or KRTHB6 are associated
with monilethrix. Autosomal recessive monilethrix with limited HYPOTRICHOSIS are also
known. Mutations in Dsg4, Liph, and P2ry5 protein genes are associated with the recessive
form of monilethrix.;
MeSH synonym : hairs, nodose; monilethrices; nodose hair; hair, nodose; nodose hairs;
Wikipedia link : https://en.wikipedia.org/wiki/Monilethrix;
Origin ID : D056734;
UMLS CUI : C0546966;
Allowable qualifiers
- Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- False automatic mappings
- Manual NTBT mappings (CISMeF)
- ORDO relation(s)
- Record concept(s)
- Related MeSH Supplementary Concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
Rare autosomal dominant disorder of the hair shaft. The clinical features of the disease
include HYPOTRICHOSIS, dry, and/or brittle hair, with varying degrees of ALOPECIA.
Mutations in the hair-specific keratin genes KRTHB1, KRTHB3, or KRTHB6 are associated
with monilethrix. Autosomal recessive monilethrix with limited HYPOTRICHOSIS are also
known. Mutations in Dsg4, Liph, and P2ry5 protein genes are associated with the recessive
form of monilethrix.
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=573
2012
false
true
false
France
child
infant
scientific and technical information
monilethrix
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