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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.


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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 chrNW_004936668:3,062,868...3,074,769 JBrowse link
G Eya1 EYA transcriptional coactivator and phosphatase 1 ISO ClinVar Annotator: match by term: Renal hypoplasia ClinVar PMID:28492532 NCBI chrNW_004936648:395,526...546,705 JBrowse link
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Renal hypoplasia ClinVar PMID:25741868 NCBI chrNW_004936521:4,309,699...4,497,755 JBrowse link
G Pax2 paired box 2 ISO ClinVar Annotator: match by term: Renal hypoplasia ClinVar PMID:25741868 PMID:35005812 NCBI chrNW_004936600:4,850,594...4,939,010 JBrowse link
G Prmt7 protein arginine methyltransferase 7 ISO ClinVar Annotator: match by term: Renal hypoplasia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936475:18,632,022...18,667,515 JBrowse link
G Wnt9b Wnt family member 9B ISO ClinVar Annotator: match by term: Renal hypoplasia ClinVar PMID:34145744 NCBI chrNW_004936541:1,899,039...1,939,561 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13721
    Developmental Disease 11199
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 10093
        Congenital Abnormalities 6236
          Renal and Mullerian Duct Hypoplasia 6
            renal hypoplasia + 6
Path 2
Term Annotations click to browse term
  disease 13721
    Pathological Conditions, Signs and Symptoms 9446
      Pathologic Processes 6709
        Disease Attributes 691
          Facies 371
            Renal and Mullerian Duct Hypoplasia 6
              renal hypoplasia + 6
paths to the root