Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.


show annotations for term's descendants           Sort by:
 
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:28492532 PMID:29751792 NCBI chr20:30,289,527...30,327,343
Ensembl chr20:30,287,424...30,327,361
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17150
    syndrome 8039
      Asrar Facharzt Haque Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17150
    disease of anatomical entity 16494
      nervous system disease 12094
        sensory system disease 5599
          Otorhinolaryngologic Diseases 1333
            laryngeal disease 54
              Voice Disorders 4
                Hoarseness 3
                  Asrar Facharzt Haque Syndrome 1
paths to the root