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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 Deafness 39 with Dentinogenesis Imperfecta 1
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Accession:DOID:9003089 term browser browse the term
Synonyms:exact_synonym: DFNA39-Dentinogenesis Imperfecta 1 Syndrome;   DFNA39/DGI1 SYNDROME
 narrow_synonym: Deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1
 primary_id: MESH:C565316
 alt_id: OMIM:605594


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Autosomal Dominant Deafness 39 with Dentinogenesis Imperfecta 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dspp dentin sialophosphoprotein ISO DNA:missense mutations:cds:p.P17T, p.V18P (human)
ClinVar Annotator: match by term: DGI1/DFNA39 SYNDROME | ClinVar Annotator: match by term: Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:11175790 PMID:15592686 PMID:22392858 PMID:25741868 PMID:26467025 More... RGD:12910984 NCBI chr14:5,565,562...5,571,669
Ensembl chr14:5,565,629...5,571,672 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Stomatognathic Diseases 1341
      tooth disease 443
        dentinogenesis imperfecta 17
          Autosomal Dominant Deafness 39 with Dentinogenesis Imperfecta 1 1
Path 2
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13331
      Signs and Symptoms 10807
        Neurologic Manifestations 10039
          sensory system disease 6940
            Otorhinolaryngologic Diseases 1735
              auditory system disease 992
                Hearing Disorders 820
                  Hearing Loss 815
                    Deafness 375
                      nonsyndromic deafness 216
                        autosomal dominant nonsyndromic deafness 79
                          Autosomal Dominant Deafness 39 with Dentinogenesis Imperfecta 1 1
paths to the root