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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 agenesis
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Accession:DOID:14766 term browser browse the term
Definition:A renal disease that is characterized by the failure of one or both kidneys to develop. (DO)
Synonyms:exact_synonym: HRA;   Hereditary Renal Aplasia;   RENAL ADYSPLASIA;   bilateral renal agenesis;   hereditary renal agenesis;   hereditary urogenital adysplasia;   renal aplasia
 primary_id: MESH:C536482;   MESH:C563261
 xref: GARD:9228;   NCI:C99041;   OMIM:PS191830;   ORDO:93108
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
renal agenesis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bicc1 BicC family RNA binding protein 1 ISO ClinVar Annotator: match by term: Renal agenesis ClinVar PMID:25741868 PMID:35005812 NCBI chr20:17,449,644...17,686,775
Ensembl chr20:17,449,560...17,686,776 		JBrowse link
G Bltp1 bridge-like lipid transfer protein family member 1 ISO ClinVar Annotator: match by term: Renal agenesis ClinVar PMID:25741868 PMID:29290337 PMID:31680349 NCBI chr 2:119,708,114...119,924,697
Ensembl chr 2:119,708,209...119,924,695 		JBrowse link
G Cftr CF transmembrane conductance regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:11119745 NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756 		JBrowse link
G Eya1 EYA transcriptional coactivator and phosphatase 1 ISO ClinVar Annotator: match by term: Bilateral renal agenesis ClinVar PMID:25741868 PMID:35005812 NCBI chr 5:4,863,501...5,101,483
Ensembl chr 5:4,955,543...5,101,483 		JBrowse link
G Fgf20 fibroblast growth factor 20 ISS OMIM:191830 MouseDO NCBI chr16:52,030,853...52,037,612
Ensembl chr16:52,010,194...52,038,204 		JBrowse link
G Fras1 Fraser extracellular matrix complex subunit 1 ISO ClinVar Annotator: match by term: Renal agenesis ClinVar PMID:25741868 PMID:35005812 NCBI chr14:12,791,407...13,200,862
Ensembl chr14:12,793,599...13,200,726 		JBrowse link
G Frem1 Fras1 related extracellular matrix 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23221805 NCBI chr 5:97,321,275...97,469,523
Ensembl chr 5:97,322,538...97,469,543 		JBrowse link
G Gfra1 GDNF family receptor alpha 1 ISS OMIM:191830 MouseDO NCBI chr 1:257,315,682...257,552,004
Ensembl chr 1:257,321,742...257,551,473 		JBrowse link
G Greb1l GREB1 like retinoic acid receptor coactivator ISO
ISS		 ClinVar Annotator: match by term: Renal agenesis
OMIM:191830		 ClinVar
MouseDO		 PMID:25741868 PMID:35005812 NCBI chr18:1,392,330...1,629,483
Ensembl chr18:1,392,725...1,628,067 		JBrowse link
G Hspb11 heat shock protein family B (small), member 11 ISO ClinVar Annotator: match by term: Renal agenesis ClinVar NCBI chr 5:122,035,588...122,062,421
Ensembl chr 5:122,035,581...122,062,421 		JBrowse link
G Itga8 integrin subunit alpha 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:75,304,004...75,501,510
Ensembl chr17:75,304,008...75,501,510 		JBrowse link
G Ret ret proto-oncogene ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: RENAL APLASIA		 CTD
ClinVar		 PMID:11230481 PMID:15320968 PMID:16849421 PMID:18058472 PMID:18252215 More... NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176 		JBrowse link
G Robo1 roundabout guidance receptor 1 ISO ClinVar Annotator: match by term: Bilateral renal agenesis ClinVar PMID:25741868 PMID:29194579 NCBI chr11:10,580,863...11,621,672
Ensembl chr11:10,580,908...11,620,203 		JBrowse link
bilateral renal aplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Npnt nephronectin ISS MouseDO NCBI chr 2:221,391,151...221,459,527
Ensembl chr 2:221,391,153...221,459,401 		JBrowse link
Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctu2 cytosolic thiouridylase subunit 2 ISO ClinVar Annotator: match by term: Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome OMIM
ClinVar		 PMID:25081361 PMID:25741868 PMID:26633546 PMID:27480277 PMID:28492532 More... NCBI chr19:50,539,184...50,544,629
Ensembl chr19:50,539,352...50,544,623 		JBrowse link
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501 		JBrowse link
Renal Hypodysplasia/Aplasia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itga8 integrin subunit alpha 8 ISO ClinVar Annotator: match by term: Renal hypodysplasia/aplasia 1 OMIM
ClinVar		 PMID:24439109 PMID:25741868 PMID:28492532 PMID:33532864 NCBI chr17:75,304,004...75,501,510
Ensembl chr17:75,304,008...75,501,510 		JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Renal hypodysplasia/aplasia 1 ClinVar PMID:7581377 PMID:7647787 PMID:7704557 PMID:7881414 PMID:9090527 More... NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176 		JBrowse link
G Upk3a uroplakin 3A ISO ClinVar Annotator: match by term: Renal hypodysplasia/aplasia 1 ClinVar PMID:15888565 PMID:27657687 PMID:28492532 NCBI chr 7:116,128,981...116,139,950
Ensembl chr 7:116,134,874...116,139,948 		JBrowse link
Renal Hypodysplasia/Aplasia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf20 fibroblast growth factor 20 ISO ClinVar Annotator: match by term: Renal hypodysplasia/aplasia 2 OMIM
ClinVar		 PMID:22698282 PMID:25741868 PMID:28492532 NCBI chr16:52,030,853...52,037,612
Ensembl chr16:52,010,194...52,038,204 		JBrowse link
Renal Hypodysplasia/Aplasia 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Greb1l GREB1 like retinoic acid receptor coactivator ISO ClinVar Annotator: match by term: Renal hypodysplasia/aplasia 3 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28739660 PMID:29100090 PMID:29100091 More... NCBI chr18:1,392,330...1,629,483
Ensembl chr18:1,392,725...1,628,067 		JBrowse link
Renal Hypodysplasia/Aplasia 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gfra1 GDNF family receptor alpha 1 ISO ClinVar Annotator: match by term: Renal hypodysplasia/aplasia 4 OMIM
ClinVar		 PMID:33020172 PMID:34737117 NCBI chr 1:257,315,682...257,552,004
Ensembl chr 1:257,321,742...257,551,473 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18145
    disease of anatomical entity 17519
      Urogenital Diseases 4704
        Urogenital Abnormalities 380
          renal agenesis 17
            Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome 2
            Partial Aniridia with Unilateral Renal Agenesis and Psychomotor Retardation 0
            Potter's syndrome 0
            Renal Hypodysplasia/Aplasia 1 3
            Renal Hypodysplasia/Aplasia 2 1
            Renal Hypodysplasia/Aplasia 3 1
            Renal Hypodysplasia/Aplasia 4 1
            bilateral renal aplasia 1
Path 2
Term Annotations click to browse term
  disease 18145
    disease of anatomical entity 17519
      Urogenital Diseases 4704
        urinary system disease 2389
          kidney disease 2161
            renal agenesis 17
              Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome 2
              Partial Aniridia with Unilateral Renal Agenesis and Psychomotor Retardation 0
              Potter's syndrome 0
              Renal Hypodysplasia/Aplasia 1 3
              Renal Hypodysplasia/Aplasia 2 1
              Renal Hypodysplasia/Aplasia 3 1
              Renal Hypodysplasia/Aplasia 4 1
              bilateral renal aplasia 1
paths to the root