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:renal hypoplasia
go back to main search page
Accession:DOID:0080204 term browser browse the term
Definition:A kidney disease that is characterized by abnormally small kidneys with normal morphology and reduced number of nephrons. (DO)
Synonyms:xref: EFO:0009471;   ORDO:93101



show annotations for term's descendants           Sort by:
renal hypoplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddx54 DEAD-box helicase 54 ISO ClinVar Annotator: match by term: Renal hypoplasia ClinVar PMID:31256877 NCBI chr12:35,934,713...35,949,956
Ensembl chr12:35,934,716...35,972,523
JBrowse link
G Eya1 EYA transcriptional coactivator and phosphatase 1 ISO ClinVar Annotator: match by term: Renal hypoplasia ClinVar PMID:28492532 NCBI chr 5:9,646,599...9,884,609
Ensembl chr 5:4,955,543...5,101,483
JBrowse link
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Renal hypoplasia ClinVar PMID:25741868 NCBI chr15:2,688,535...2,861,443
Ensembl chr15:2,639,200...2,812,316
JBrowse link
G Pax2 paired box 2 ISO ClinVar Annotator: match by term: Renal hypoplasia ClinVar PMID:25741868 PMID:35005812 NCBI chr 1:253,555,447...253,646,623
Ensembl chr 1:243,616,606...243,695,321
JBrowse link
G Prmt7 protein arginine methyltransferase 7 ISO ClinVar Annotator: match by term: Renal hypoplasia ClinVar PMID:25741868 PMID:26437029 PMID:27718516 PMID:28492532 PMID:28902392 NCBI chr19:51,020,596...51,071,401
Ensembl chr19:34,110,747...34,162,577
JBrowse link
G Ret ret proto-oncogene ISO DNA:SNP:exon 7:rs1800860 (human) RGD PMID:18820179 RGD:155641253 NCBI chr 4:152,998,344...153,040,556
Ensembl chr 4:151,326,431...151,368,176
JBrowse link
G Wnt9b Wnt family member 9B ISO ClinVar Annotator: match by term: Renal hypoplasia ClinVar PMID:34145744 NCBI chr10:88,635,330...88,657,035
Ensembl chr10:88,635,331...88,657,035
JBrowse link
oligomeganephronia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl2 BCL2, apoptosis regulator ISS MouseDO NCBI chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    disease of anatomical entity 18453
      Urogenital Diseases 5391
        urinary system disease 2832
          kidney disease 2580
            renal hypoplasia 8
              oligomeganephronia 1
Path 2
Term Annotations click to browse term
  disease 19141
    Pathological Conditions, Signs and Symptoms 13624
      Pathologic Processes 8326
        Disease Attributes 899
          Facies 507
            Renal and Mullerian Duct Hypoplasia 8
              renal hypoplasia 8
                oligomeganephronia 1
paths to the root