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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;   Nodose Hairs
 primary_id: MESH:D056734
 alt_id: OMIM:158000;   RDO:0002184
 xref: GARD:93
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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

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Path 1
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  disease 14759
    sensory system disease 4231
      skin disease 2240
        Genetic Skin Diseases 576
          monilethrix 3
            Trueb Burg Bottani Syndrome 0
Path 2
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          monogenic disease 2854
            autosomal genetic disease 2132
              autosomal dominant disease 1092
                monilethrix 3
                  Trueb Burg Bottani Syndrome 0
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