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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:BRAIN MALFORMATION RENAL SYNDROME
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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


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BRAIN MALFORMATION RENAL SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Exoc3l2 exocyst complex component 3-like 2 ISO ClinVar Annotator: match by term: Brain malformation renal syndrome OMIM
ClinVar		 PMID:27894351 PMID:28749478 PMID:30327448 PMID:34974531 NCBI chr 1:88,241,784...88,273,352
Ensembl chr 1:88,240,477...88,276,847 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    syndrome 5304
      Dandy-Walker syndrome 27
        BRAIN MALFORMATION RENAL SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      nervous system disease 8528
        central nervous system disease 6393
          brain disease 5852
            cerebral degeneration 250
              hydrocephalus 134
                Dandy-Walker syndrome 27
                  BRAIN MALFORMATION RENAL SYNDROME 1
paths to the root