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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: MIM: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
ISS		 ClinVar Annotator: match by term: Deafness, congenital, with onychodystrophy, autosomal dominant
CTD Direct Evidence: marker/mechanism
OMIM:124480		 OMIM
ClinVar
CTD
MouseDO		 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 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19087
    syndrome 11180
      autosomal dominant congenital deafness with onychodystrophy 1
Path 2
Term Annotations click to browse term
  disease 19087
    Pathological Conditions, Signs and Symptoms 13530
      Signs and Symptoms 11085
        Neurologic Manifestations 10336
          sensory system disease 7249
            Otorhinolaryngologic Diseases 1788
              auditory system disease 1048
                Hearing Disorders 835
                  Hearing Loss 830
                    Deafness 380
                      autosomal dominant congenital deafness with onychodystrophy 1
paths to the root