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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 B cell leukemia/lymphoma 2 IEA MouseDO NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004
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 ISO ClinVar Annotator: match by term: Renal hypoplasia ClinVar PMID:31256877 NCBI chr 5:120,751,147...120,766,657
Ensembl chr 5:120,750,804...120,766,657
JBrowse link
G Eya1 EYA transcriptional coactivator and phosphatase 1 ISO ClinVar Annotator: match by term: Renal hypoplasia ClinVar PMID:28492532 NCBI chr 1:14,239,177...14,381,259
Ensembl chr 1:14,239,178...14,380,459
JBrowse link
G Kat6b K(lysine) acetyltransferase 6B ISO ClinVar Annotator: match by term: Renal hypoplasia ClinVar PMID:25741868 NCBI chr14:21,549,284...21,722,546
Ensembl chr14:21,531,502...21,722,546
JBrowse link
G Pax2 paired box 2 ISO ClinVar Annotator: match by term: Renal hypoplasia ClinVar PMID:25741868 PMID:35005812 NCBI chr19:44,735,040...44,826,708
Ensembl chr19:44,744,484...44,826,310
JBrowse link
G Prmt7 protein arginine N-methyltransferase 7 ISO ClinVar Annotator: match by term: Renal hypoplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:106,937,686...106,978,326
Ensembl chr 8:106,937,568...106,979,426
JBrowse link
G Wnt9b wingless-type MMTV integration site family, member 9B ISO ClinVar Annotator: match by term: Renal hypoplasia ClinVar PMID:34145744 NCBI chr11:103,618,188...103,666,098
Ensembl chr11:103,618,190...103,640,647
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15283
    Developmental Disease 12305
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11014
        Congenital Abnormalities 6762
          Renal and Mullerian Duct Hypoplasia 7
            renal hypoplasia + 7
Path 2
Term Annotations click to browse term
  disease 15283
    Pathological Conditions, Signs and Symptoms 10467
      Pathologic Processes 7482
        Disease Attributes 752
          Facies 379
            Renal and Mullerian Duct Hypoplasia 7
              renal hypoplasia + 7
paths to the root