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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 15619
    sensory system disease 4674
      skin disease 2461
        hair disease 228
          hypotrichosis 111
            hypotrichosis 1 4
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal dominant disease 2079
                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.