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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:Vohwinkel syndrome
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Accession:DOID:0111339 term browser browse the term
Definition:A syndrome characterized by severe, honeycomb-patterned palmoplantar keratosis, constrictions on the fingers and toes leading to autoamputation and mild to moderate congenital sensorineural hearing loss that has_material_basis_in heterozygous mutation in GJB2 on chromosome 13q12.11. (DO)
Synonyms:exact_synonym: KHM;   Mutilating keratoderma;   Mutilating keratoderma plus deafness;   PPK mutilans Vohwinkel;   PPK mutilans and deafness;   Palmoplantar Keratoderma Mutilans;   VOWNKL;   congenital deafness with keratopachydermia and constrictions fo fingers and toes;   congenital deafness with keratopachydermia and constrictions of fingers and toes;   keratoderma hereditarium mutilans;   mutilating keratoderma of Vohwinkel;   palmoplantar keratoderma mutilans Vohwinkel
 primary_id: MESH:C536457
 alt_id: OMIM:124500
 xref: ORDO:3092;   ORDO:494
For additional species annotation, visit the Alliance of Genome Resources.


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Vohwinkel 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.D66H(human)
ClinVar Annotator: match by OMIM:124500
ClinVar Annotator: match by term: Mutilating keratoderma
ClinVar Annotator: match by term: Keratoderma hereditarium mutilans
OMIM
ClinVar
PMID:1218943 PMID:1693158 PMID:2706105 PMID:2956987 PMID:8789457 More... RGD:7364824, RGD:11568635 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
      Vohwinkel 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
                    Vohwinkel syndrome 1
paths to the root