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Skin and Connective Tissue Diseases > Skin Diseases > Skin Diseases, Genetic > Monilethrix
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Skin Diseases, Genetic > Monilethrix
Skin and Connective Tissue Diseases > Skin Diseases > Hair Diseases > Monilethrix
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > Monilethrix

Preferred term

Monilethrix  

Type

  • Topical Descriptor

Broader concept

Entry terms

  • Hair, Nodose
  • Hairs, Nodose
  • Nodose Hair
  • Nodose Hairs

Scope note

  • 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.

History note

  • 2010

In other languages

URI

http://www.yso.fi/onto/mesh/D056734

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RDF/XML TURTLE JSON-LD Created 7/6/09, last modified 6/18/15