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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:Basel-Vanagaite-Smirin-Yosef syndrome
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Accession:DOID:9005442 term browser browse the term
Definition:An autosomal recessive multiple congenital anomaly disorder characterized by severely delayed psychomotor development resulting in mental retardation, as well as variable eye, brain, cardiac, and palatal abnormalities. (OMIM)
Synonyms:exact_synonym: BVSYS
 primary_id: MIM:616449
 alt_id: RDO:9001374


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Basel-Vanagaite-Smirin-Yosef syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med25 mediator complex subunit 25 ISO ClinVar Annotator: match by term: Basel-Vanagaite-Smirin-Yosef syndrome OMIM
ClinVar		 PMID:25488817 PMID:25527630 PMID:25741868 PMID:25792360 PMID:28170084 More... NCBI chr 1:104,496,447...104,513,061
Ensembl chr 1:104,496,447...104,512,391 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19150
    syndrome 11437
      Basel-Vanagaite-Smirin-Yosef syndrome 1
Path 2
Term Annotations click to browse term
  disease 19150
    disease of anatomical entity 18459
      musculoskeletal system disease 8480
        connective tissue disease 5931
          bone disease 4372
            bone development disease 2347
              dysostosis 641
                synostosis 403
                  craniosynostosis 338
                    Crouzon syndrome 32
                      Basel-Vanagaite-Smirin-Yosef syndrome 1
paths to the root