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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 Agenesis;   Hereditary Renal Aplasia;   RENAL ADYSPLASIA;   Renal Aplasia;   bilateral renal agenesis;   hereditary urogenital adysplasia;   renal hypoplasia
 primary_id: MESH:C536482;   MESH:C563261
 alt_id: RDO:0002083;   RDO:0012583
 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 Cftr CF transmembrane conductance regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:11119745 NCBI chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676
JBrowse link
G Ddx54 DEAD-box helicase 54 ISO ClinVar Annotator: match by term: Renal hypoplasia ClinVar PMID:31256877 NCBI chr12:41,469,642...41,484,887
Ensembl chr12:41,470,557...41,485,122
JBrowse link
G Eya1 EYA transcriptional coactivator and phosphatase 1 ISO ClinVar Annotator: match by term: Renal hypoplasia ClinVar PMID:28492532 NCBI chr 5:4,275,728...4,495,525
Ensembl chr 5:4,373,626...4,513,142
JBrowse link
G Frem1 Fras1 related extracellular matrix 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23221805 NCBI chr 5:101,018,009...101,166,794
Ensembl chr 5:101,020,448...101,166,651
JBrowse link
G Frem2 FRAS1 related extracellular matrix 2 ISO ClinVar Annotator: match by term: Renal adysplasia ClinVar PMID:25741868 NCBI chr 2:142,747,501...142,885,604
Ensembl chr 2:142,747,501...142,885,604
JBrowse link
G Itga8 integrin subunit alpha 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:79,321,893...79,676,927
Ensembl chr17:79,321,900...79,676,499
JBrowse link
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Renal hypoplasia ClinVar PMID:25741868 NCBI chr15:2,811,933...2,966,833
Ensembl chr15:2,813,537...2,966,576
JBrowse link
G Ret ret proto-oncogene ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Urogenital adysplasia, hereditary
CTD
ClinVar
PMID:11230481 PMID:15320968 PMID:18058472 PMID:18252215 PMID:18322301 PMID:19826964 PMID:19906784 PMID:21479187 PMID:21551259 PMID:21986619 PMID:23067224 PMID:24033266 PMID:24728327 PMID:25637381 PMID:25741868 PMID:26332594 PMID:26489027 PMID:27379493 PMID:28492532 PMID:28946813 NCBI chr 4:150,202,170...150,249,196
Ensembl chr 4:150,202,058...150,244,372
JBrowse link
G RGD1307100 similar to RIKEN cDNA D630029K19 ISO ClinVar Annotator: match by term: Renal aplasia ClinVar PMID:25741868 PMID:29290337 PMID:31680349 NCBI chr 2:123,555,742...123,766,675
Ensembl chr 2:123,555,673...123,766,676
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 ClinVar
OMIM
PMID:25741868 PMID:26633546 PMID:27480277 NCBI chr19:55,300,531...55,305,543
Ensembl chr19:55,300,395...55,305,702
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 NCBI chr17:79,321,893...79,676,927
Ensembl chr17:79,321,900...79,676,499
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:7581377 PMID:7647787 PMID:7704557 PMID:7881414 PMID:8084609 PMID:9090527 PMID:9506724 PMID:9727738 PMID:9760196 PMID:10022819 PMID:10528857 PMID:10646792 PMID:10790203 PMID:10980580 PMID:11230481 PMID:11436122 PMID:11589684 PMID:11732489 PMID:11953745 PMID:11955539 PMID:12000816 PMID:12016484 PMID:12086152 PMID:12205548 PMID:12214285 PMID:12566528 PMID:12702567 PMID:12872262 PMID:14566559 PMID:14602786 PMID:14627689 PMID:14633923 PMID:15320968 PMID:15472167 PMID:15531548 PMID:15531714 PMID:15741265 PMID:15753368 PMID:15834508 PMID:15858153 PMID:15870131 PMID:15933516 PMID:16091499 PMID:16118333 PMID:16388093 PMID:16424056 PMID:16441254 PMID:16649977 PMID:16705552 PMID:16928683 PMID:16986122 PMID:17009072 PMID:17021738 PMID:17102091 PMID:17108762 PMID:17344846 PMID:17483988 PMID:17610518 PMID:18058472 PMID:18062802 PMID:18252215 PMID:18284634 PMID:18322301 PMID:18772120 PMID:18805915 PMID:18976163 PMID:19269918 PMID:19826964 PMID:19906784 PMID:20039896 PMID:20080836 PMID:20473317 PMID:20516206 PMID:20532249 PMID:20801952 PMID:20956458 PMID:20981092 PMID:21311890 PMID:21349203 PMID:21479187 PMID:21490379 PMID:21551259 PMID:21655256 PMID:21810974 PMID:21986619 PMID:21995290 PMID:22068382 PMID:22111543 PMID:22174939 PMID:22395866 PMID:22517557 PMID:22574178 PMID:22584710 PMID:22648184 PMID:22676047 PMID:22703879 PMID:22729463 PMID:22837065 PMID:22995991 PMID:23059849 PMID:23067224 PMID:23084198 PMID:23461807 PMID:23527089 PMID:23723040 PMID:24033266 PMID:24055113 PMID:24336963 PMID:24375508 PMID:24651702 PMID:24728327 PMID:24897126 PMID:25425582 PMID:25637381 PMID:25741868 PMID:25950813 PMID:25985138 PMID:26206375 PMID:26332594 PMID:26395553 PMID:26467025 PMID:26489027 PMID:26580448 PMID:27153395 PMID:27379493 PMID:27600092 PMID:27798940 PMID:27884173 PMID:28492532 PMID:28946813 PMID:30306255 PMID:30644554 PMID:30927507 PMID:31510104 NCBI chr 4:150,202,170...150,249,196
Ensembl chr 4:150,202,058...150,244,372
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 7:125,920,357...125,925,430
Ensembl chr 7:125,920,357...125,925,430
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
ClinVar Annotator: match by OMIM:615721
OMIM
ClinVar
PMID:22698282 NCBI chr16:55,152,748...55,159,352
Ensembl chr16:55,152,748...55,159,352
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
ClinVar Annotator: match by term: Renal hypodysplasia/aplasia 3
ClinVar
OMIM
PMID:25741868 PMID:28739660 PMID:29100090 PMID:29100091 NCBI chr18:1,537,315...1,784,260
Ensembl chr18:1,723,565...1,784,233
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      Urogenital Diseases 4143
        Urogenital Abnormalities 256
          renal agenesis 13
            Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome 1
            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
            bilateral renal aplasia 0
Path 2
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      Urogenital Diseases 4143
        urinary system disease 2071
          kidney disease 1856
            renal agenesis 13
              Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome 1
              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
              bilateral renal aplasia 0
paths to the root