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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 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

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Path 1
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  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          hypotrichosis 1 3
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        sensory system disease 4231
          skin disease 2240
            hair disease 201
              hypotrichosis 93
                hypotrichosis 1 3
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