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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:Asrar Facharzt Haque Syndrome
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Accession:DOID:9000755 term browser browse the term
Synonyms:primary_id: MESH:C535391;   RDO:0000484
For additional species annotation, visit the Alliance of Genome Resources.


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Asrar Facharzt Haque Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc29a3 solute carrier family 29 member 3 ISO ClinVar Annotator: match by term: Asrar Facharzt Haque syndrome ClinVar PMID:29751792 NCBI chr20:30,289,527...30,327,343
Ensembl chr20:30,287,424...30,327,361
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      Asrar Facharzt Haque 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
            laryngeal disease 67
              Voice Disorders 5
                Hoarseness 3
                  Asrar Facharzt Haque 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.