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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 Tubular Dysgenesis
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Accession:DOID:9006137 term browser browse the term
Definition: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.
Synonyms:exact_synonym: Allanson Pantzar McLeod Syndrome;   Primitive renal tubule syndrome;   RENAL TUBULAR DYSGENESIS OF GENETIC ORIGIN;   RTD;   Renal tubular dysgenesis;   Renotubular dysgenesis;   autosomal recessive renal tubular dysgenesis
 broad_synonym: AGT-RELATED CONDITION;   REN-RELATED CONDITION
 primary_id: MESH:C537048;   MIM:267430
 alt_id: DOID:9006774



show annotations for term's descendants           Sort by:
Renal Tubular Dysgenesis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO 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
ClinVar
PMID:16116425 PMID:20093180 PMID:20416077 PMID:21471972 PMID:22095942 More... NCBI chr10:91,410,129...91,430,246
Ensembl chr10:90,910,316...90,931,131
JBrowse link
G Agt angiotensinogen ISO 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
ClinVar
OMIM
PMID:1394429 PMID:7607642 PMID:7649545 PMID:7744780 PMID:7883995 More... NCBI chr19:69,426,540...69,447,017
Ensembl chr19:52,529,185...52,540,977
JBrowse link
G Agtr1a angiotensin II receptor, type 1a ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Renal tubular dysgenesis | ClinVar Annotator: match by term: Renal tubular dysgenesis of genetic origin
OMIM
CTD
ClinVar
PMID:8021009 PMID:9084931 PMID:15042429 PMID:16116425 PMID:18641512 More... NCBI chr17:34,383,397...34,435,523
Ensembl chr17:34,174,429...34,226,946
JBrowse link
G Ren renin ISO 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
OMIM
CTD
ClinVar
RGD
PMID:16116425 PMID:17443344 PMID:21036942 PMID:22095942 PMID:25741868 More... RGD:1598878 NCBI chr13:47,348,312...47,359,539
Ensembl chr13:44,796,091...44,807,489
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    disease of anatomical entity 18453
      Urogenital Diseases 5391
        urinary system disease 2832
          kidney disease 2580
            Renal Tubular Dysgenesis 4
              Renal Tubular Dysgenesis with Choanal Atresia and Athelia 0
paths to the root