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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:AURONEURODENTAL SYNDROME
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Accession:DOID:9006673 term browser browse the term
Definition:This disease is an autosomal recessive disorder characterized by progressive high-frequency sensorineural hearing loss, mild proximal and axial muscle weakness, and dental anomalies.
Synonyms:exact_synonym: ANDS
 primary_id: OMIM:620830


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AURONEURODENTAL SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hyal3 hyaluronidase 3 ISO ClinVar Annotator: match by term: Auroneurodental syndrome ClinVar PMID:34805998 NCBI chr 8:108,254,385...108,260,020
Ensembl chr 8:108,250,667...108,260,647 		JBrowse link
G Naa80 N(alpha)-acetyltransferase 80, NatH catalytic subunit ISO ClinVar Annotator: match by term: Auroneurodental syndrome ClinVar PMID:34805998 NCBI chr 8:108,254,314...108,257,564
Ensembl chr 8:108,253,302...108,257,563 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    Stomatognathic Diseases 1368
      tooth disease 465
        Tooth Abnormalities 297
          AURONEURODENTAL SYNDROME 2
Path 2
Term Annotations click to browse term
  disease 19099
    Pathological Conditions, Signs and Symptoms 13605
      Signs and Symptoms 11184
        Neurologic Manifestations 10420
          sensory system disease 7331
            Otorhinolaryngologic Diseases 1791
              auditory system disease 1052
                Hearing Disorders 840
                  Hearing Loss 835
                    sensorineural hearing loss 642
                      High-Frequency Hearing Loss 3
                        AURONEURODENTAL SYNDROME 2
paths to the root