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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-deafness syndrome
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Accession:DOID:0111505 term browser browse the term
Definition:A syndrome characterized by sensorineural hearing loss and progressive hyperkeratosis of the palms and soles that has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12.11. (DO)
Synonyms:exact_synonym: Hereditary palmoplantar keratoderma with deafness;   Keratoderma palmoplantar deafness;   PPK with deafness;   PPK-deafness syndrome;   Palmoplantar Hyperkeratosis-Deafness Syndrome;   Palmoplantar Hyperkeratosis-Hearing Loss Syndrome;   Palmoplantar Keratoderma with Deafness;   Palmoplantar Keratoderma-Hearing Loss Syndrome;   Palmoplantar keratoderma and sensorineural deafness;   diffuse palmoplantar keratoderma with deafness;   focal palmoplantar keratoderma with sensorineural deafness
 narrow_synonym: HEREDITARY PALMOPLANTAR KERATODERMA
 primary_id: MESH:C536152
 alt_id: MIM:148350
 xref: GARD:3094;   ORDO:2202


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palmoplantar keratoderma-deafness syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsg1 desmoglein 1 ISO ClinVar Annotator: match by term: Hereditary palmoplantar keratoderma ClinVar PMID:25741868 NCBI chr18:11,674,687...11,705,383
Ensembl chr18:11,674,402...11,703,443 		JBrowse link
G Gjb2 gap junction protein, beta 2 ISO DNA:missense mutation:cds:p.S183F(human)
DNA:mutation:cds:p.H73R(human)
DNA:misense mutation:cds:c.224G>A (p.R75Q)(human)
DNA:missense mutation:cds:p.G130V(human)
ClinVar Annotator: match by term: Keratoderma palmoplantar, with deafness | ClinVar Annotator: match by term: Palmoplantar keratoderma and sensorineural deafness | ClinVar Annotator: match by term: Palmoplantar keratoderma-deafness syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2104787 More... RGD:7364814, RGD:7364819, RGD:11568636, RGD:11097846 NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177 		JBrowse link
G Mt-co1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Palmoplantar keratoderma-deafness syndrome ClinVar PMID:127819 PMID:6213205 PMID:7219534 PMID:7987332 PMID:8019558 More... NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    syndrome 11370
      palmoplantar keratoderma-deafness syndrome 3
Path 2
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      nervous system disease 14355
        Neurologic Manifestations 10445
          sensory system disease 7373
            Otorhinolaryngologic Diseases 1797
              auditory system disease 1063
                Hearing Disorders 848
                  Hearing Loss 843
                    sensorineural hearing loss 648
                      palmoplantar keratoderma-deafness syndrome 3
paths to the root