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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;   RDO:0000460
 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 15626
    syndrome 5163
      ectodermal dysplasia 249
        dermatopathia pigmentosa reticularis 1
Path 2
Term Annotations click to browse term
  disease 15626
    disease of anatomical entity 14956
      nervous system disease 10224
        sensory system disease 4685
          skin disease 2467
            hair disease 228
              hypotrichosis 111
                alopecia 78
                  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.