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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 IAGP ClinVar Annotator: match by term: Palmoplantar keratoderma and woolly hair ClinVar
OMIM
PMID:24671081 NCBI chr19:11,164,270...11,197,865
Ensembl chr19:11,164,270...11,197,791
JBrowse link
Carvajal syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSP desmoplakin IAGP
EXP
ClinVar Annotator: match by term: Cardiomyopathy dilated with woolly hair and keratoderma
ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma
ClinVar Annotator: match by term: Carvajal syndrome
ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dilated cardiomyopathy, woolly hair, keratoderma
ClinVar
CTD
OMIM
PMID:8769422 PMID:9536098 PMID:10594734 PMID:11063735 PMID:11841538 More... NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,617...7,586,714
JBrowse link
G LOC110121274 VISTA enhancer hs2191 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma ClinVar PMID:28492532 NCBI chr 6:7,560,927...7,562,502 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 IAGP ClinVar Annotator: match by term: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis ClinVar
OMIM
PMID:15941723 PMID:16628197 PMID:16774985 PMID:20940358 PMID:21606396 More... NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,617...7,586,714
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20259
    sensory system disease 6162
      skin disease 3130
        keratosis 163
          palmoplantar keratosis 37
            PALMOPLANTAR KERATODERMA AND WOOLLY HAIR 3
              Carvajal syndrome + 2
Path 2
Term Annotations click to browse term
  disease 20259
    disease of anatomical entity 18860
      nervous system disease 14840
        sensory system disease 6162
          skin disease 3130
            keratosis 163
              palmoplantar keratosis 37
                PALMOPLANTAR KERATODERMA AND WOOLLY HAIR 3
                  Carvajal syndrome + 2
paths to the root