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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;   MIM:PS191830;   NCI:C99041;   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 chr20:17,449,639...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 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 5:97,321,266...97,469,523
Ensembl chr 5:97,322,538...97,469,543 		JBrowse link
G Greb1l GREB1 like retinoic acid receptor coactivator ISO ClinVar Annotator: match by term: Renal agenesis ClinVar PMID:25741868 PMID:35005812 NCBI chr18:1,392,330...1,629,483
Ensembl chr18:1,392,725...1,628,067 		JBrowse link
G Ift25 intraflagellar transport 25 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
ClinVar Annotator: match by term: RENAL APLASIA		 CTD
ClinVar		 PMID:24439109 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 | ClinVar Annotator: match by term: Urogenital adysplasia, hereditary		 CTD
ClinVar		 PMID:7704557 PMID:8797874 PMID:9452077 PMID:9606292 PMID:10076558 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...11,621,675
Ensembl chr11:10,580,908...11,620,203 		JBrowse link
G Sall1 spalt-like transcription factor 1 ISO RGD PMID:11688560 RGD:155641230 NCBI chr19:18,005,782...18,022,705
Ensembl chr19:18,007,503...18,022,705 		JBrowse link
G Sox3 SRY-box transcription factor 3 ISO ClinVar Annotator: match by term: Renal agenesis ClinVar PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr  X:139,308,608...139,310,687
Ensembl chr  X:139,309,329...139,310,678 		JBrowse link
G Tmco1 transmembrane and coiled-coil domains 1 ISO ClinVar Annotator: match by term: Renal agenesis ClinVar PMID:25741868 PMID:30755392 PMID:31102500 PMID:32214227 NCBI chr13:79,460,229...79,483,557
Ensembl chr13:79,460,135...79,483,555 		JBrowse link
G Upk3a uroplakin 3A ISO ClinVar Annotator: match by term: RENAL APLASIA | ClinVar Annotator: match by term: Urogenital adysplasia, hereditary ClinVar PMID:15888565 PMID:25741868 PMID:28492532 NCBI chr 7:116,128,981...116,139,950
Ensembl chr 7:116,134,874...116,139,948 		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: CTU2-related condition | 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 Greb1l GREB1 like retinoic acid receptor coactivator ISO ClinVar Annotator: match by term: Renal agenesis and hypodysplasia ClinVar PMID:28492532 PMID:29100090 NCBI chr18:1,392,330...1,629,483
Ensembl chr18:1,392,725...1,628,067 		JBrowse link
G Itga8 integrin subunit alpha 8 ISO ClinVar Annotator: match by term: ITGA8-related condition | ClinVar Annotator: match by term: Renal hypodysplasia/aplasia 1 OMIM
ClinVar		 PMID:24439109 PMID:24700879 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 Annotator: match by term: Renal hypodysplasia/aplasia 1 ClinVar PMID:2639553 PMID:7581377 PMID:7647787 PMID:7704557 PMID:7881414 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:25741868 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: FGF20-related condition | ClinVar Annotator: match by term: Renal hypodysplasia/aplasia 2 OMIM
ClinVar		 PMID:22698282 PMID:25741868 PMID:28492532 NCBI chr16:52,030,549...52,038,201
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: GREB1L-related condition | 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: GFRA1-related condition | ClinVar Annotator: match by term: Renal hypodysplasia/aplasia 4 OMIM
ClinVar		 PMID:25741868 PMID:28492532 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 19137
    disease of anatomical entity 18450
      Urogenital Diseases 5390
        Urogenital Abnormalities 461
          renal agenesis 20
            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 4
            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 19137
    disease of anatomical entity 18450
      Urogenital Diseases 5390
        urinary system disease 2833
          kidney disease 2581
            renal agenesis 20
              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 4
              Renal Hypodysplasia/Aplasia 2 1
              Renal Hypodysplasia/Aplasia 3 1
              Renal Hypodysplasia/Aplasia 4 1
              bilateral renal aplasia 1
paths to the root