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ONTOLOGY REPORT - ANNOTATIONS


Term:hypotrichosis 1
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Accession:DOID:0110698 term browser browse the term
Definition:A hypotrichosis that has_material_basis_in a autosomal dominant mutation of APCDD1 on chromosome 18p11.22. (DO)
Synonyms:exact_synonym: HHS;   HTS;   HYPT1;   hereditary generalized hypotrichosis simplex;   hereditary generelized hypotrichosis simplex;   hereditary hypotrichosis simplex;   hypotrichosis simplex
 primary_id: MESH:C537160
 alt_id: OMIM:605389;   RDO:0002943
For additional species annotation, visit the Alliance of Genome Resources.


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hypotrichosis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apcdd1 APC down-regulated 1 JBrowse link 18 58,270,398 58,300,982 RGD:7240710
RGD:11554173
RGD:8554872
G Liph lipase H JBrowse link 11 82,680,167 82,732,145 RGD:8554872
G Lpar6 lysophosphatidic acid receptor 6 JBrowse link 15 55,126,953 55,128,762 RGD:11554173
G Snrpe small nuclear ribonucleoprotein polypeptide E JBrowse link 13 50,252,707 50,258,951 RGD:10768831

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15590
    sensory system disease 4659
      skin disease 2445
        hair disease 227
          hypotrichosis 110
            hypotrichosis 1 4
Path 2
Term Annotations click to browse term
  disease 15590
    Developmental Diseases 8723
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7503
        genetic disease 6993
          monogenic disease 4551
            autosomal genetic disease 3501
              autosomal dominant disease 2065
                hypotrichosis 1 4
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.