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:BRAIN MALFORMATION RENAL SYNDROME
go back to main search page
Accession:DOID:9009056 term browser browse the term
Definition:This disease is characterized by brain abnormalities, Dandy-Walker malformation, and renal dysplasia.
Synonyms:exact_synonym: BMRS;   EXOC3L2-RELATED CONDITION
 primary_id: MIM:620943



show annotations for term's descendants           Sort by:
BRAIN MALFORMATION RENAL SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bloc1s3 biogenesis of lysosomal organelles complex-1, subunit 3 ISO ClinVar Annotator: match by term: EXOC3L2-related condition ClinVar PMID:28492532 NCBI chr 1:79,155,873...79,158,247
Ensembl chr 1:79,155,693...79,158,505
JBrowse link
G Exoc3l2 exocyst complex component 3-like 2 ISO ClinVar Annotator: match by term: BRAIN MALFORMATION RENAL SYNDROME | ClinVar Annotator: match by term: EXOC3L2-related condition OMIM
ClinVar
PMID:27894351 PMID:28492532 PMID:28749478 PMID:30327448 PMID:34974531 NCBI chr 1:79,113,784...79,145,359
Ensembl chr 1:79,112,506...79,145,465
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    syndrome 11372
      Dandy-Walker syndrome 32
        BRAIN MALFORMATION RENAL SYNDROME 2
Path 2
Term Annotations click to browse term
  disease 19141
    disease of anatomical entity 18453
      nervous system disease 14360
        central nervous system disease 12636
          brain disease 11855
            cerebral degeneration 685
              hydrocephalus 204
                Dandy-Walker syndrome 32
                  BRAIN MALFORMATION RENAL SYNDROME 2
paths to the root