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RGD uses the Human Disease Ontology (DO, 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:autosomal dominant congenital deafness with onychodystrophy
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Accession:DOID:0080720 term browser browse the term
Definition:A syndrome that is characterized by autosomal dominant inheritance of congenital deafness and onychodystrophy and that has_material_basis_in heterozygous mutation in the ATP6V1B2 gene on chromosome 8p21. (DO)
Synonyms:exact_synonym: DDOD;   DDOD syndrome;   congenital deafness, and onychodystrophy, autosomal dominant
 primary_id: MESH:C567274
 alt_id: OMIM:124480
 xref: GARD:4732;   NCI:C175240

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autosomal dominant congenital deafness with onychodystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v1b2 ATPase H+ transporting V1 subunit B2 ISO
ClinVar Annotator: match by term: Deafness, congenital, with onychodystrophy, autosomal dominant
CTD Direct Evidence: marker/mechanism
PMID:24913193 PMID:25741868 PMID:28396750 PMID:31581539 PMID:31655144 NCBI chr16:20,617,515...20,641,651
Ensembl chr16:20,617,518...20,641,745
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21112
    syndrome 10710
      autosomal dominant congenital deafness with onychodystrophy 1
Path 2
Term Annotations click to browse term
  disease 21112
    Pathological Conditions, Signs and Symptoms 13291
      Signs and Symptoms 10731
        Neurologic Manifestations 9971
          sensory system disease 6867
            Otorhinolaryngologic Diseases 1692
              auditory system disease 946
                Hearing Disorders 776
                  Hearing Loss 772
                    Deafness 342
                      autosomal dominant congenital deafness with onychodystrophy 1
paths to the root