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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: MIM:149200


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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)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bart-Pumphrey syndrome		 OMIM
CTD
ClinVar
RGD		 PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 More... RGD:7364821 NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    syndrome 11270
      Bart-Pumphrey syndrome 1
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14333
        Neurologic Manifestations 10417
          sensory system disease 7326
            Otorhinolaryngologic Diseases 1791
              auditory system disease 1051
                Hearing Disorders 839
                  Hearing Loss 834
                    sensorineural hearing loss 642
                      Bart-Pumphrey syndrome 1
paths to the root