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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:erythrokeratodermia variabilis et progressiva 1
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Accession:DOID:0111195 term browser browse the term
Definition:An erythrokeratodermia variabilis that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in GJB3 on 1p34.3. (DO)
Synonyms:exact_synonym: EKVP1
 alt_id: OMIM:133200
For additional species annotation, visit the Alliance of Genome Resources.


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erythrokeratodermia variabilis et progressiva 1 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 et progressiva 1 OMIM
ClinVar
PMID:9843209 PMID:9843210 PMID:10587579 PMID:10594760 PMID:10798362 PMID:10888284 PMID:11175305 PMID:12019212 PMID:12165562 PMID:12702148 PMID:15131355 PMID:17567887 PMID:19050930 PMID:20981092 PMID:24033266 PMID:24498627 PMID:25262649 PMID:25741868 PMID:26467025 PMID:27068579 PMID:27884173 PMID:28492532 NCBI chr 5:145,390,590...145,397,271
Ensembl chr 5:145,391,311...145,392,123
JBrowse link
G Gjb4 gap junction protein, beta 4 ISO ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 1 ClinVar PMID:25741868 NCBI chr 5:145,416,343...145,421,122
Ensembl chr 5:145,416,343...145,418,992
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    sensory system disease 5168
      skin disease 2711
        Erythema 58
          erythrokeratodermia variabilis 7
            erythrokeratodermia variabilis et progressiva 1 2
Path 2
Term Annotations click to browse term
  disease 16092
    Developmental Diseases 9588
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8436
        genetic disease 7958
          monogenic disease 5739
            autosomal genetic disease 4756
              autosomal dominant disease 3032
                erythrokeratodermia variabilis et progressiva 1 2
paths to the root