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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 NCBI chr12:41,469,642...41,484,887
Ensembl chr12:41,470,557...41,485,122
JBrowse link
G Dhcr7 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Renal hypoplasia
ClinVar Annotator: match by term: Renal adysplasia
ClinVar PMID:8259166, PMID:8737829, PMID:9024557, PMID:9653161, PMID:9683613, PMID:10677299, PMID:10807690, PMID:10814720, PMID:10995508, PMID:11078571, PMID:11161831, PMID:11175299, PMID:11241839, PMID:11427181, PMID:11562938, PMID:12794707, PMID:15286151, PMID:15464432, PMID:15521979, PMID:15670717, PMID:15776424, PMID:15805162, PMID:15952211, PMID:16497572, PMID:16761297, PMID:16906538, PMID:17965227, PMID:18285838, PMID:19365639, PMID:19390132, PMID:20301322, PMID:20556518, PMID:20635399, PMID:21777499, PMID:22438180, PMID:22975760, PMID:23042628, PMID:23293579, PMID:23918729, PMID:24033266, PMID:24824134, PMID:25108116, PMID:25741868, PMID:25807282, PMID:26467025, PMID:28166604, PMID:28492532, PMID:30311386 NCBI chr 1:217,018,916...217,034,890
Ensembl chr 1:217,018,916...217,034,904
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 Nfia nuclear factor I/A ISO ClinVar Annotator: match by term: Renal adysplasia ClinVar PMID:30311386 NCBI chr 5:116,421,895...116,750,381
Ensembl chr 5:116,420,690...116,751,416
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
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:27798940, PMID:27884173, PMID:28492532, PMID:28946813, PMID:30306255, PMID:30644554, 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 16108
    disease of anatomical entity 15356
      Urogenital Diseases 4145
        Urogenital Abnormalities 286
          renal agenesis 14
            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 16108
    disease of anatomical entity 15356
      Urogenital Diseases 4145
        urinary system disease 2069
          kidney disease 1857
            renal agenesis 14
              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

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.