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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:Bart-Pumphrey syndrome
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Accession:DOID:0050658 term browser browse the term
Definition:A syndrome that is characterized by leukonychia, wart-like skin growths, palmoplantar keratoderma and hearing loss, has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12. (DO)
Synonyms:exact_synonym: BAPS;   knuckle pads, leukonychia, and sensorineural deafness;   knuckle pads, leukonychia, deafness, and keratosis palmoplantaris
 primary_id: MESH:C537210
 alt_id: OMIM:149200
For additional species annotation, visit the Alliance of Genome Resources.


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Bart-Pumphrey syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein, beta 2 ISO DNA:mutation:cds:p.N54K(human)
ClinVar Annotator: match by OMIM:149200
ClinVar Annotator: match by term: KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS
ClinVar Annotator: match by term: Bart-Pumphrey syndrome
OMIM
ClinVar
PMID:1218943 PMID:1693158 PMID:2706105 PMID:2956987 PMID:8789457 More... RGD:7364821 NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    syndrome 8126
      Bart-Pumphrey syndrome 1
Path 2
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      nervous system disease 12101
        sensory system disease 5611
          Otorhinolaryngologic Diseases 1342
            auditory system disease 909
              Hearing Disorders 739
                Hearing Loss 735
                  sensorineural hearing loss 606
                    Bart-Pumphrey syndrome 1
paths to the root