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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:Neuromuscular Oculoauditory Syndrome
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Accession:DOID:9004696 term browser browse the term
Synonyms:exact_synonym: DHX16-RELATED CONDITION;   NMOAS;   neuromuscular disease and ocular or auditory anomalies with or without seizures
 primary_id: MIM:618733


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Neuromuscular Oculoauditory Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhx16 DEAH-box helicase 16 ISO ClinVar Annotator: match by term: DHX16-related condition | ClinVar Annotator: match by term: Neuromuscular disease and ocular or auditory anomalies with or without seizures OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31256877 NCBI chr20:2,862,000...2,874,991
Ensembl chr20:2,862,000...2,874,948 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19104
    sensory system disease 7340
      eye disease 3682
        Neuromuscular Oculoauditory Syndrome 1
Path 2
Term Annotations click to browse term
  disease 19104
    disease of anatomical entity 18445
      nervous system disease 14347
        Neurologic Manifestations 10431
          sensory system disease 7340
            Otorhinolaryngologic Diseases 1795
              auditory system disease 1055
                Neuromuscular Oculoauditory Syndrome 1
paths to the root