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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
For additional species annotation, visit the Alliance of Genome Resources.


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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: NEUROMUSCULAR DISEASE AND OCULAR OR AUDITORY ANOMALIES WITH OR WITHOUT SEIZURES ClinVar
OMIM
PMID:31256877 NCBI chr20:3,368,971...3,386,087
Ensembl chr20:3,367,150...3,386,106
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    sensory system disease 5162
      eye disease 2593
        Neuromuscular Oculoauditory Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        sensory system disease 5162
          Otorhinolaryngologic Diseases 1185
            auditory system disease 754
              Neuromuscular Oculoauditory Syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.