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

ONTOLOGY REPORT - ANNOTATIONS


Term:Basel-Vanagaite-Smirin-Yosef syndrome
go back to main search page
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: OMIM:616449
 alt_id: RDO:9001374
For additional species annotation, visit the Alliance of Genome Resources.


GViewer not supported for chinchilla.
show annotations for term's descendants       view all columns           Sort by:
 
Basel-Vanagaite-Smirin-Yosef syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Med25 mediator complex subunit 25 JBrowse link NW_004955559 1,085,033 1,102,501 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11252
    syndrome 4494
      Basel-Vanagaite-Smirin-Yosef syndrome 1
Path 2
Term Annotations click to browse term
  disease 11252
    Developmental Diseases 7825
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6738
        genetic disease 6291
          monogenic disease 4279
            autosomal genetic disease 3390
              autosomal dominant disease 2007
                complex cortical dysplasia with other brain malformations 459
                  Malformations of Cortical Development, Group I 327
                    microcephaly 204
                      Basel-Vanagaite-Smirin-Yosef syndrome 1
paths to the root

NHLBI Logo

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