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ONTOLOGY REPORT - ANNOTATIONS


Term:dermatopathia pigmentosa reticularis
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Accession:DOID:0111342 term browser browse the term
Definition:An ectodermal dysplasia characterized by reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy that has_material_basis_in heterozygous mutation in KRT14 on chromosome 17q21.2. (DO)
Synonyms:exact_synonym: DPR
 primary_id: MESH:C535374
 alt_id: DOID:9008984;   OMIM:125595
 xref: GARD:8550;   ORDO:86920
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dermatopathia pigmentosa reticularis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt14 keratin 14 JBrowse link 10 88,118,029 88,122,233 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    syndrome 5224
      ectodermal dysplasia 252
        dermatopathia pigmentosa reticularis 1
Path 2
Term Annotations click to browse term
  disease 15553
    Developmental Diseases 8823
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7613
        genetic disease 7096
          monogenic disease 4788
            autosomal genetic disease 3768
              autosomal dominant disease 2310
                ectodermal dysplasia 252
                  dermatopathia pigmentosa reticularis 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.