ONTOLOGY REPORT - ANNOTATIONS


Term:monilethrix
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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
RGD:8554872
G Krt83 keratin 83 JBrowse link 7 143,078,996 143,085,833 RGD:7240710
RGD:8554872
G Krt86 keratin 86 JBrowse link 7 143,122,285 143,128,932 RGD:7240710
RGD:8554872

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  disease 14875
    sensory system disease 4246
      skin disease 2253
        Genetic Skin Diseases 580
          monilethrix 3
            Trueb Burg Bottani Syndrome 0
Path 2
Term Annotations click to browse term
  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        genetic disease 5997
          monogenic disease 2855
            autosomal genetic disease 2137
              autosomal dominant disease 1098
                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.