FTP Download
Chinchilla Research Resource Database
   
Keyword
  

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.


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 1 100,872,240 100,887,864 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      Basel-Vanagaite-Smirin-Yosef syndrome 1
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      musculoskeletal system disease 3973
        connective tissue disease 2568
          bone disease 2114
            bone development disease 891
              dysostosis 233
                synostosis 148
                  craniosynostosis 112
                    Crouzon syndrome 23
                      Basel-Vanagaite-Smirin-Yosef syndrome 1
paths to the root