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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:Renal and Mullerian Duct Hypoplasia
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Accession:DOID:9007600 term browser browse the term
Synonyms:primary_id: MESH:C564853
 alt_id: OMIM:266810
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
oligomeganephronia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCL2 BCL2 apoptosis regulator ISS MouseDO NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128 		JBrowse link
renal hypoplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DDX54 DEAD-box helicase 54 IAGP ClinVar Annotator: match by term: Renal hypoplasia ClinVar PMID:31256877 NCBI chr12:113,157,173...113,185,478
Ensembl chr12:113,157,173...113,185,479 		JBrowse link
G EYA1 EYA transcriptional coactivator and phosphatase 1 IAGP ClinVar Annotator: match by term: Renal hypoplasia ClinVar PMID:28492532 NCBI chr 8:71,197,433...71,548,094
Ensembl chr 8:71,197,433...71,592,025 		JBrowse link
G KAT6B lysine acetyltransferase 6B IAGP ClinVar Annotator: match by term: Renal hypoplasia ClinVar PMID:25741868 NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624 		JBrowse link
G LRRC37A2 leucine rich repeat containing 37 member A2 IAGP ClinVar Annotator: match by term: Renal hypoplasia ClinVar PMID:34145744 NCBI chr17:46,372,792...47,049,128
Ensembl chr17:46,512,468...46,555,646 		JBrowse link
G PAX2 paired box 2 IAGP ClinVar Annotator: match by term: Renal hypoplasia ClinVar PMID:25741868 PMID:35005812 NCBI chr10:100,735,396...100,829,944
Ensembl chr10:100,735,396...100,829,944 		JBrowse link
G PRMT7 protein arginine methyltransferase 7 IAGP ClinVar Annotator: match by term: Renal hypoplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr16:68,311,019...68,360,870
Ensembl chr16:68,310,951...68,360,852 		JBrowse link
G WNT9B Wnt family member 9B IAGP ClinVar Annotator: match by term: Renal hypoplasia ClinVar PMID:34145744 NCBI chr17:46,833,189...46,886,738
Ensembl chr17:46,833,201...46,886,730 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 22089
    Developmental Disease 16531
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 14239
        Congenital Abnormalities 8585
          Renal and Mullerian Duct Hypoplasia 8
            renal hypoplasia + 8
Path 2
Term Annotations click to browse term
  disease 22089
    Pathological Conditions, Signs and Symptoms 13145
      Pathologic Processes 9106
        Disease Attributes 820
          Facies 428
            Renal and Mullerian Duct Hypoplasia 8
              renal hypoplasia + 8
paths to the root