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Accession:DOID:0050472 term browser browse the term
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.
Synonyms:exact_synonym: MNLIX;   monilethrices;   nodose hair
 primary_id: MESH:D056734
 alt_id: OMIM:158000
 xref: GARD:93;   ICD10CM:Q84.1;   NCI:C84894
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monilethrix term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt81 keratin 81 JBrowse link 7 143,107,901 143,113,006 RGD:7240710
G Krt83 keratin 83 JBrowse link 7 143,078,996 143,085,833 RGD:7240710
G Krt86 keratin 86 JBrowse link 7 143,122,285 143,128,932 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16022
    sensory system disease 4976
      skin disease 2652
        Genetic Skin Diseases 884
          monilethrix 3
            Trueb Burg Bottani Syndrome 0
Path 2
Term Annotations click to browse term
  disease 16022
    Developmental Diseases 9336
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8164
        genetic disease 7688
          monogenic disease 5446
            autosomal genetic disease 4409
              autosomal dominant disease 2753
                monilethrix 3
                  Trueb Burg Bottani Syndrome 0
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.