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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:PALMOPLANTAR KERATODERMA AND WOOLLY HAIR
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Accession:DOID:9005974 term browser browse the term
Synonyms:exact_synonym: PPKWH
 primary_id: OMIM:616099;   RDO:9001507
For additional species annotation, visit the Alliance of Genome Resources.


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PALMOPLANTAR KERATODERMA AND WOOLLY HAIR term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kank2 KN motif and ankyrin repeat domains 2 ISO OMIM NCBI chrNW_004936659:1,320,169...1,340,137 JBrowse link
Carvajal syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101968918 desmoplakin ISO OMIM NCBI chrNW_004936534:5,029,008...5,076,467 JBrowse link
Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101968918 desmoplakin ISO OMIM NCBI chrNW_004936534:5,029,008...5,076,467 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13019
    sensory system disease 5003
      skin disease 2625
        keratosis 125
          palmoplantar keratosis 27
            PALMOPLANTAR KERATODERMA AND WOOLLY HAIR 2
              Carvajal syndrome + 1
Path 2
Term Annotations click to browse term
  disease 13019
    disease of anatomical entity 12700
      nervous system disease 10554
        sensory system disease 5003
          skin disease 2625
            keratosis 125
              palmoplantar keratosis 27
                PALMOPLANTAR KERATODERMA AND WOOLLY HAIR 2
                  Carvajal syndrome + 1
paths to the root