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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:
 
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 chr12:110,763,319...110,790,364
Ensembl chr12:114,144,664...114,173,127
JBrowse link
G EYA1 EYA transcriptional coactivator and phosphatase 1 ISO ClinVar Annotator: match by term: Renal hypoplasia ClinVar PMID:28492532 NCBI chr 8:67,728,057...68,060,069
Ensembl chr 8:69,387,769...69,551,829
JBrowse link
G KAT6B lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Renal hypoplasia ClinVar PMID:25741868 NCBI chr10:71,354,585...71,561,572
Ensembl chr10:74,035,496...74,223,975
JBrowse link
G PAX2 paired box 2 ISO ClinVar Annotator: match by term: Renal hypoplasia ClinVar PMID:25741868 PMID:35005812 NCBI chr10:97,344,978...97,429,086
Ensembl chr10:100,822,676...100,904,028
JBrowse link
G PRMT7 protein arginine methyltransferase 7 ISO ClinVar Annotator: match by term: Renal hypoplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr16:48,687,324...48,734,883
Ensembl chr16:68,086,620...68,127,953
JBrowse link
G WNT9B Wnt family member 9B ISO ClinVar Annotator: match by term: Renal hypoplasia ClinVar PMID:34145744 NCBI chr17:10,616,957...10,651,954 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14616
    Developmental Disease 11831
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 10580
        Congenital Abnormalities 6503
          Renal and Mullerian Duct Hypoplasia 6
            renal hypoplasia + 6
Path 2
Term Annotations click to browse term
  disease 14616
    Pathological Conditions, Signs and Symptoms 9969
      Pathologic Processes 7061
        Disease Attributes 721
          Facies 377
            Renal and Mullerian Duct Hypoplasia 6
              renal hypoplasia + 6
paths to the root