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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: NMOAS;   neuromuscular disease and ocular or auditory anomalies with or without seizures
 primary_id: OMIM:618733



show annotations for term's descendants           Sort by:
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: Neuromuscular disease and ocular or auditory anomalies with or without seizures OMIM
ClinVar
PMID:25741868 PMID:31256877 NCBI chr20:2,862,000...2,874,991
Ensembl chr20:2,862,000...2,874,948
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6940
      eye disease 3477
        Neuromuscular Oculoauditory Syndrome 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        Neurologic Manifestations 10039
          sensory system disease 6940
            Otorhinolaryngologic Diseases 1735
              auditory system disease 992
                Neuromuscular Oculoauditory Syndrome 1
paths to the root