Preferred Name

Monilethrix

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84894

code

C84894

DEFINITION

A rare autosomal dominant inherited hair shaft disorder caused by mutations in certain cuticular type II keratin genes. It is characterized by the presence of thin, fragile hairs that appear beaded.

FULL_SYN

Monilethrix

label

Monilethrix

Preferred_Name

Monilethrix

prefixIRI

Thesaurus:C84894

prefLabel

Monilethrix

Semantic_Type

Disease or Syndrome

UMLS_CUI

C0546966

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53543

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C35784

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