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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:Keratoderma Palmoplantaris Transgrediens
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Accession:DOID:9005662 term browser browse the term
Synonyms:exact_synonym: Erythrokeratodermia Figurata, Congenital Familial, in Plaques;   Erythrokeratodermia Variabilis with Erythema Gyratum Repens;   Greither Disease;   Keratosis palmoplantaris transgrediens et progrediens;   transgrediens et progrediens palmoplantar keratoderma
 related_synonym: ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS GREITHER DISEASE
 primary_id: MESH:C536154
 alt_id: RDO:0001615
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
Keratoderma Palmoplantaris Transgrediens term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb3 gap junction protein, beta 3 ISO ClinVar Annotator: match by term: ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS ClinVar PMID:9843210 PMID:19050930 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 5:139,649,227...139,655,083
Ensembl chr 5:139,649,195...139,654,980
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18246
    sensory system disease 6520
      skin disease 3877
        Genetic Skin Diseases 1583
          erythrokeratodermia variabilis 10
            Keratoderma Palmoplantaris Transgrediens 1
Path 2
Term Annotations click to browse term
  disease 18246
    disease of anatomical entity 17610
      nervous system disease 13264
        sensory system disease 6520
          skin disease 3877
            Genetic Skin Diseases 1583
              erythrokeratodermia variabilis 10
                Keratoderma Palmoplantaris Transgrediens 1
paths to the root