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 |