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
Accession: DOID:0080204
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
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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
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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
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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
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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
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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
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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
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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
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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
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