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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:Brown-Vialetto-Van Laere syndrome 1
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Accession:DOID:0080785 term browser browse the term
Definition:A Brown-Vialetto-Van Laere syndrome that is characterized by progressive bulbar palsy with sensorineural deafness that has_material_basis_in homozygous or compound heterozygous mutation in the C20ORF54 gene (SLC52A3) on chromosome 20p13. (DO)
Synonyms:exact_synonym: BVVLS1
 primary_id: OMIM:211530
 xref: NCI:C133724
For additional species annotation, visit the Alliance of Genome Resources.


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Brown-Vialetto-Van Laere syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc52a2 solute carrier family 52 member 2 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 1 ClinVar PMID:25741868 NCBI chr 7:117,605,038...117,608,460
Ensembl chr 7:117,605,050...117,608,460
JBrowse link
G Slc52a3 solute carrier family 52 member 3 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 1 ClinVar
OMIM
PMID:2020633 PMID:16122634 PMID:20206331 PMID:20920669 PMID:21110228 PMID:22273710 PMID:22633641 PMID:22718020 PMID:22740598 PMID:22824638 PMID:23107375 PMID:23688382 PMID:24033266 PMID:25741868 PMID:26072523 PMID:26443808 PMID:27702554 PMID:27777325 PMID:28251916 PMID:28492532 PMID:29053833 PMID:29501408 PMID:30311386 NCBI chr 3:147,503,266...147,517,935
Ensembl chr 3:147,511,406...147,516,455
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      Brown-Vialetto-Van Laere syndrome 29
        Brown-Vialetto-Van Laere syndrome 1 2
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        sensory system disease 5285
          Otorhinolaryngologic Diseases 1202
            auditory system disease 767
              Hearing Disorders 624
                Hearing Loss 619
                  sensorineural hearing loss 496
                    Brown-Vialetto-Van Laere syndrome 29
                      Brown-Vialetto-Van Laere syndrome 1 2
paths to the root