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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.



show annotations for term's descendants           Sort by:
 
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 chr 2:69,896,116...69,925,194
Ensembl chr 2:69,890,937...69,925,189
JBrowse link
Carvajal syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSP desmoplakin ISO OMIM NCBI chr 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,615
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 DSP desmoplakin ISO OMIM NCBI chr 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,615
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13631
    sensory system disease 5154
      skin disease 2701
        keratosis 127
          palmoplantar keratosis 27
            PALMOPLANTAR KERATODERMA AND WOOLLY HAIR 2
              Carvajal syndrome + 1
Path 2
Term Annotations click to browse term
  disease 13631
    disease of anatomical entity 13299
      nervous system disease 11014
        sensory system disease 5154
          skin disease 2701
            keratosis 127
              palmoplantar keratosis 27
                PALMOPLANTAR KERATODERMA AND WOOLLY HAIR 2
                  Carvajal syndrome + 1
paths to the root