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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:diffuse cystic renal dysplasia
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Accession:DOID:0111682 term browser browse the term
Definition:A cystic kidney disease characterized by nonsyndromic diffuse cystic dysplasia of the kidneys that has_material_basis_in heterozygous mutation in the BICC1 gene on chromosome 10q21.1. The same mutation maybe found in unaffected parents suggesting incomplete penetrance of the disorder or that additional environmental factors are required for development of the disorder. (DO)
Synonyms:exact_synonym: CYSRD;   susceptibility to cystic renal dysplasia
 primary_id: MESH:C537755
 alt_id: MIM:601331
 xref: GARD:4658



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diffuse cystic renal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO ClinVar Annotator: match by term: Renal dysplasia, cystic, susceptibility to ClinVar PMID:25741868 PMID:35005812 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
JBrowse link
G Agtr1a angiotensin II receptor, type 1a ISO ClinVar Annotator: match by term: Renal dysplasia, cystic, susceptibility to ClinVar PMID:25741868 PMID:35005812 NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
JBrowse link
G Bicc1 BicC family RNA binding protein 1 susceptibility ISO ClinVar Annotator: match by term: Renal dysplasia, cystic, susceptibility to OMIM
ClinVar
PMID:21922595 PMID:25741868 PMID:28492532 NCBI chr20:17,449,639...17,686,775
Ensembl chr20:17,449,560...17,686,776
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19076
    disease of anatomical entity 18367
      Urogenital Diseases 5276
        urinary system disease 2851
          kidney disease 2602
            cystic kidney disease 519
              diffuse cystic renal dysplasia 3
Path 2
Term Annotations click to browse term
  disease 19076
    Developmental Disease 14561
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13608
        genetic disease 13283
          monogenic disease 10664
            autosomal genetic disease 9837
              autosomal dominant disease 6521
                diffuse cystic renal dysplasia 3
paths to the root