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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:Perlman syndrome
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Accession:DOID:0060476 term browser browse the term
Definition:A syndrome characterized by polyhydramnios with neonatal macrosomia, nephromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor. It shows similarities to Beckwith-Wiedemann syndrome. (DO)
Synonyms:exact_synonym: DIS3L2-RELATED CONDITION;   PRLMNS;   nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor;   nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor;   renal hamartomas, nephroblastomatosis, and fetal gigantism
 narrow_synonym: PREDISPOSITION TO WILMS TUMOR
 primary_id: MESH:C536399
 alt_id: MIM:267000
 xref: GARD:3936;   NCI:C103144;   ORDO:2849


show annotations for term's descendants           Sort by:
Perlman syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alpg alkaline phosphatase, germ cell ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:95,187,995...95,205,127
Ensembl chr 9:95,198,334...95,205,742 		JBrowse link
G Alpi alkaline phosphatase, intestinal ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:95,221,314...95,224,780
Ensembl chr 9:95,221,314...95,224,780 		JBrowse link
G Alpp alkaline phosphatase, placental ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:95,213,763...95,216,509
Ensembl chr 9:95,213,374...95,219,451 		JBrowse link
G Armc9 armadillo repeat containing 9 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:94,250,492...94,376,589
Ensembl chr 9:94,250,859...94,376,589 		JBrowse link
G Atg16l1 autophagy related 16-like 1 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:95,869,839...95,905,354
Ensembl chr 9:95,869,865...95,905,357 		JBrowse link
G B3gnt7 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:94,404,197...94,408,148
Ensembl chr 9:94,404,135...94,408,147 		JBrowse link
G C9h2orf72 similar to human chromosome 2 open reading frame 72 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:94,139,808...94,147,919
Ensembl chr 9:94,139,849...94,147,918 		JBrowse link
G Cab39 calcium binding protein 39 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:93,911,099...93,972,542
Ensembl chr 9:93,911,054...93,972,542 		JBrowse link
G Chrnd cholinergic receptor nicotinic delta subunit ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:95,310,316...95,318,734
Ensembl chr 9:95,310,298...95,318,745 		JBrowse link
G Chrng cholinergic receptor nicotinic gamma subunit ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:95,325,984...95,332,092
Ensembl chr 9:95,325,984...95,332,092 		JBrowse link
G Cops7b COP9 signalosome subunit 7B ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:94,686,314...94,711,903
Ensembl chr 9:94,686,314...94,711,903 		JBrowse link
G Ctr9 CTR9 homolog, Paf1/RNA polymerase II complex component ISO ClinVar Annotator: match by term: Predisposition to Wilms tumor ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 1:174,571,952...174,601,974
Ensembl chr 1:174,571,928...174,602,130 		JBrowse link
G Dgkd diacylglycerol kinase, delta ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:95,964,507...96,055,160
Ensembl chr 9:95,964,148...96,055,160 		JBrowse link
G Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:25741868 NCBI chr15:82,231,922...82,258,299
Ensembl chr15:82,231,283...82,258,333 		JBrowse link
G Dis3l2 DIS3-like 3'-5' exoribonuclease 2 ISO
ISS 		CTD Direct Evidence: marker/mechanism
OMIM:267000
ClinVar Annotator: match by term: DIS3L2-related condition | ClinVar Annotator: match by term: Perlman syndrome 		OMIM
CTD
MouseDO
ClinVar		 PMID:6093533 PMID:9536098 PMID:10508986 PMID:16199547 PMID:16957732 More... NCBI chr 9:94,802,056...95,184,523
Ensembl chr 9:94,804,382...95,184,522 		JBrowse link
G Dnajb3 DnaJ heat shock protein family (Hsp40) member B3 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:96,243,345...96,244,358
Ensembl chr 9:96,243,071...96,244,408 		JBrowse link
G Ecel1 endothelin converting enzyme-like 1 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:95,267,417...95,276,508
Ensembl chr 9:95,264,618...95,274,575 		JBrowse link
G Efhd1 EF-hand domain family, member D1 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:95,386,155...95,432,800
Ensembl chr 9:95,386,169...95,432,798 		JBrowse link
G Eif4e2 eukaryotic translation initiation factor 4E family member 2 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:95,333,439...95,362,366
Ensembl chr 9:95,333,989...95,362,362 		JBrowse link
G Gigyf2 GRB10 interacting GYF protein 2 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:95,449,143...95,574,927
Ensembl chr 9:95,449,167...95,574,927 		JBrowse link
G Gpr55 G protein-coupled receptor 55 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:94,037,748...94,081,426
Ensembl chr 9:94,036,162...94,088,707 		JBrowse link
G Hjurp Holliday junction recognition protein ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:96,301,183...96,315,587
Ensembl chr 9:96,302,530...96,315,657 		JBrowse link
G Htr2b 5-hydroxytryptamine receptor 2B ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:94,184,442...94,206,851
Ensembl chr 9:94,190,109...94,204,087 		JBrowse link
G Itm2c integral membrane protein 2C ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:93,993,922...94,007,737
Ensembl chr 9:93,993,895...94,007,704 		JBrowse link
G Kcnj13 potassium inwardly-rectifying channel, subfamily J, member 13 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:95,509,228...95,528,400
Ensembl chr 9:95,510,877...95,520,817 		JBrowse link
G Mroh2a maestro heat-like repeat family member 2A ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:96,262,307...96,309,036
Ensembl chr 9:96,262,271...96,301,635 		JBrowse link
G Ncl nucleolin ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:94,447,559...94,456,083
Ensembl chr 9:94,446,682...94,456,083 		JBrowse link
G Neu2 neuraminidase 2 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:95,666,338...95,715,209
Ensembl chr 9:95,696,507...95,715,208 		JBrowse link
G Ngef neuronal guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:95,594,823...95,692,381
Ensembl chr 9:95,594,823...95,692,251 		JBrowse link
G Nmur1 neuromedin U receptor 1 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:94,480,002...94,486,147
Ensembl chr 9:94,481,248...94,485,428 		JBrowse link
G Nppc natriuretic peptide C ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:94,767,986...94,772,186
Ensembl chr 9:94,767,986...94,772,186 		JBrowse link
G Nynrin NYN domain and retroviral integrase containing ISO ClinVar Annotator: match by term: Predisposition to Wilms tumor ClinVar PMID:28492532 NCBI chr15:33,302,778...33,325,120
Ensembl chr15:33,295,954...33,324,383 		JBrowse link
G Pde6d phosphodiesterase 6D ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:94,640,932...94,685,918
Ensembl chr 9:94,640,932...94,685,918 		JBrowse link
G Prss56 serine protease 56 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:95,289,984...95,307,877
Ensembl chr 9:95,302,772...95,307,877 		JBrowse link
G Psmd1 proteasome 26S subunit, non-ATPase 1 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:94,157,971...94,233,218
Ensembl chr 9:94,157,971...94,233,218 		JBrowse link
G Ptma prothymosin alpha ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:94,624,194...94,628,276
Ensembl chr 9:94,624,196...94,628,276 		JBrowse link
G Sag S-antigen visual arrestin ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:95,915,640...95,956,641
Ensembl chr 9:95,917,197...95,956,507 		JBrowse link
G Snorc secondary ossification center associated regulator of chondrocyte maturation ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:95,574,943...95,593,394
Ensembl chr 9:95,591,796...95,593,394 		JBrowse link
G Snord20 small nucleolar RNA, C/D box 20 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:94,449,039...94,449,118
Ensembl chr 9:94,449,039...94,449,118 		JBrowse link
G Snord82 small nucleolar RNA, C/D box 82 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:94,452,486...94,452,557
Ensembl chr 9:94,452,486...94,452,557 		JBrowse link
G Sp100 SP100 nuclear antigen ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:93,758,975...93,825,068
Ensembl chr 9:93,759,075...93,825,068 		JBrowse link
G Sp110 SP110 nuclear body protein ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:93,648,574...93,673,476
Ensembl chr 9:93,648,575...93,670,659 		JBrowse link
G Sp140 SP140 nuclear body protein ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:93,672,536...93,722,596
Ensembl chr 9:93,667,989...93,722,593 		JBrowse link
G Spata3 spermatogenesis associated 3 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:94,107,832...94,120,280
Ensembl chr 9:94,107,807...94,119,172 		JBrowse link
G Spp2 secreted phosphoprotein 2 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:96,454,636...96,474,453
Ensembl chr 9:96,454,957...96,474,452 		JBrowse link
G Tex44 testis expressed 44 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:94,523,649...94,525,067
Ensembl chr 9:94,523,640...94,526,154 		JBrowse link
G Trpm8 transient receptor potential cation channel, subfamily M, member 8 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:96,315,567...96,437,959
Ensembl chr 9:96,351,681...96,436,617 		JBrowse link
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:96,249,143...96,256,264
Ensembl chr 9:96,144,786...96,256,264 		JBrowse link
G Ugt1a2 UDP glucuronosyltransferase 1 family, polypeptide A2 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:96,239,019...96,256,264
Ensembl chr 9:96,144,786...96,256,264 		JBrowse link
G Ugt1a3 UDP glycosyltransferase 1 family, polypeptide A3 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:96,228,134...96,256,264
Ensembl chr 9:96,144,786...96,256,264 		JBrowse link
G Ugt1a5 UDP glucuronosyltransferase family 1 member A5 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:96,210,053...96,256,264
Ensembl chr 9:96,144,786...96,256,264 		JBrowse link
G Ugt1a6 UDP glucuronosyltransferase family 1 member A6 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:96,195,018...96,256,264
Ensembl chr 9:96,144,786...96,256,264 		JBrowse link
G Ugt1a9 UDP glucuronosyltransferase family 1 member A9 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:96,144,786...96,256,264
Ensembl chr 9:96,144,786...96,256,264 		JBrowse link
G Usp40 ubiquitin specific peptidase 40 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:96,055,741...96,126,766
Ensembl chr 9:96,055,741...96,126,721 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19150
    syndrome 11437
      Perlman syndrome 54
Path 2
Term Annotations click to browse term
  disease 19150
    Developmental Disease 14695
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13757
        genetic disease 13375
          inherited metabolic disorder 6649
            carbohydrate metabolic disorder 3434
              glucose metabolism disease 2174
                diabetes mellitus 1681
                  Diabetes Complications 554
                    Fetal Macrosomia 68
                      Perlman syndrome 54
paths to the root