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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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: OMIM:125595
 xref: GARD:8550;   ORDO:86920
For additional species annotation, visit the Alliance of Genome Resources.


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dermatopathia pigmentosa reticularis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt14 keratin 14 ISO ClinVar Annotator: match by OMIM:125595 OMIM
ClinVar
PMID:1303619, PMID:16960809 NCBI chr10:88,118,029...88,122,233
Ensembl chr10:88,055,823...88,122,233
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      ectodermal dysplasia 250
        dermatopathia pigmentosa reticularis 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        sensory system disease 5213
          skin disease 2758
            hair disease 262
              hypotrichosis 127
                alopecia 93
                  dermatopathia pigmentosa reticularis 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.