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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:BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME
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Accession:DOID:9003053 term browser browse the term
Definition:This disease is an autosomal recessive complex ciliopathy with multisystemic manifestations.
Synonyms:exact_synonym: BRENS;   BRENS SYNDROME
 primary_id: OMIM:619534


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BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift56 intraflagellar transport 56 ISO ClinVar Annotator: match by term: Biliary, renal, neurologic, and skeletal syndrome OMIM
ClinVar		 PMID:25741868 PMID:31595528 PMID:32617964 PMID:34177428 NCBI chr 4:67,090,622...67,154,707
Ensembl chr 4:67,090,660...67,147,903 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Urogenital Diseases 5233
        urinary system disease 2830
          kidney disease 2586
            BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME 1
paths to the root