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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 BICC1 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: OMIM:601331
 xref: GARD:4658
For additional species annotation, visit the Alliance of Genome Resources.


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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 Bicc1 BicC family RNA binding protein 1 susceptibility ISO ClinVar Annotator: match by term: Renal dysplasia diffuse cystic
ClinVar Annotator: match by term: Renal dysplasia, cystic, susceptibility to
ClinVar
OMIM
PMID:21922595 PMID:25741868 NCBI chr20:17,449,644...17,686,775
Ensembl chr20:17,449,560...17,686,776
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      Urogenital Diseases 4356
        urinary system disease 2143
          kidney disease 1923
            cystic kidney disease 225
              diffuse cystic renal dysplasia 1
Path 2
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9457
        genetic disease 8960
          monogenic disease 7128
            autosomal genetic disease 6276
              autosomal dominant disease 4460
                diffuse cystic renal dysplasia 1
paths to the root