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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 chr19:10,713,582...10,746,371
Ensembl chr19:11,426,149...11,457,359
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 6:7,381,046...7,426,408
Ensembl chr 6:7,664,211...7,709,391
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 6:7,381,046...7,426,408
Ensembl chr 6:7,664,211...7,709,391
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13863
    sensory system disease 5202
      skin disease 2731
        keratosis 133
          palmoplantar keratosis 30
            PALMOPLANTAR KERATODERMA AND WOOLLY HAIR 2
              Carvajal syndrome + 1
Path 2
Term Annotations click to browse term
  disease 13863
    disease of anatomical entity 13523
      nervous system disease 11201
        sensory system disease 5202
          skin disease 2731
            keratosis 133
              palmoplantar keratosis 30
                PALMOPLANTAR KERATODERMA AND WOOLLY HAIR 2
                  Carvajal syndrome + 1
paths to the root