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
Accession: DOID:14766
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 .
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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