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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: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
For additional species annotation, visit the Alliance of Genome Resources.



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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: DDOD SYNDROME, UMLS MESH term: Deafness, Congenital, and Onychodystrophy, Autosomal Dominant
ClinVar Annotator: match by term: Deafness, congenital, with onychodystrophy, autosomal dominant
ClinVar
OMIM
PMID:24913193 PMID:25741868 PMID:28396750 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 17208
    syndrome 8125
      autosomal dominant congenital deafness with onychodystrophy 1
Path 2
Term Annotations click to browse term
  disease 17208
    disease of anatomical entity 16554
      nervous system disease 12100
        sensory system disease 5611
          Otorhinolaryngologic Diseases 1343
            auditory system disease 909
              Hearing Disorders 739
                Hearing Loss 735
                  Deafness 385
                    autosomal dominant congenital deafness with onychodystrophy 1
paths to the root