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.
This disease is a severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios (the Potter phenotype). Absence or paucity of differentiated proximal tubules is the histopathologic hallmark of the disorder.
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Renal tubular dysgenesis | ClinVar Annotator: match by term: Renal tubular dysgenesis of genetic origin
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Renal tubular dysgenesis | ClinVar Annotator: match by term: Renal tubular dysgenesis of genetic origin
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Renal tubular dysgenesis | ClinVar Annotator: match by term: Renal tubular dysgenesis of genetic origin
DNA:polymorphisms:cds, intron:multiple (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Renal tubular dysgenesis | ClinVar Annotator: match by term: Renal tubular dysgenesis of genetic origin