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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 the GJB2 gene on chromosome 13q12.11. (DO)
Synonyms:exact_synonym: KHM;   PPK mutilans Vohwinkel;   PPK mutilans and deafness;   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;   mutilating keratoderma of Vohwinkel;   mutilating keratoderma plus deafness;   palmoplantar keratoderma mutilans;   palmoplantar keratoderma mutilans Vohwinkel
 primary_id: MESH:C536457
 alt_id: OMIM:124500
 xref: ORDO:3092;   ORDO:494



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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)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Keratoderma hereditarium mutilans | ClinVar Annotator: match by term: Mutilating keratoderma
OMIM
CTD
ClinVar
RGD
PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 More... RGD:7364824, RGD:11568635 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 21121
    syndrome 10792
      Vohwinkel syndrome 1
Path 2
Term Annotations click to browse term
  disease 21121
    Pathological Conditions, Signs and Symptoms 13300
      Signs and Symptoms 10786
        Neurologic Manifestations 10019
          sensory system disease 6932
            Otorhinolaryngologic Diseases 1726
              auditory system disease 986
                Hearing Disorders 813
                  Hearing Loss 808
                    sensorineural hearing loss 618
                      Vohwinkel syndrome 1
paths to the root