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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: Congenital Deafness, and Onychodystrophy, Autosomal Dominant;   DDOD;   DDOD syndrome
 primary_id: MESH:C567274
 alt_id: OMIM:124480
 xref: GARD:4732
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
OMIM
PMID:24913193, PMID:28396750 NCBI chr16:22,326,537...22,350,143
Ensembl chr16:22,326,529...22,350,155
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      autosomal dominant congenital deafness with onychodystrophy 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        sensory system disease 5213
          Otorhinolaryngologic Diseases 1190
            auditory system disease 754
              Hearing Disorders 614
                Hearing Loss 609
                  Deafness 270
                    autosomal dominant congenital deafness with onychodystrophy 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.