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autosomal dominant congenital deafness with onychodystrophy - Ontology Report - Rat Genome Database

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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
 broad_synonym: ATP6V1B2-RELATED CONDITION
 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 ClinVar Annotator: match by term: Deafness, congenital, with onychodystrophy, autosomal dominant OMIM
ClinVar		 PMID:24913193 PMID:25741868 PMID:28396750 PMID:30311386 PMID:31581539 More... NCBI chr25:36,833,246...36,858,846
Ensembl chr25:36,834,196...36,858,819 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15760
    syndrome 10625
      autosomal dominant congenital deafness with onychodystrophy 1
Path 2
Term Annotations click to browse term
  disease 15760
    Pathological Conditions, Signs and Symptoms 12320
      Signs and Symptoms 10319
        Neurologic Manifestations 10001
          sensory system disease 7032
            Otorhinolaryngologic Diseases 1738
              auditory system disease 1021
                Hearing Disorders 802
                  Hearing Loss 797
                    Deafness 379
                      autosomal dominant congenital deafness with onychodystrophy 1
paths to the root