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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: 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: OMIM:267000
 xref: GARD:3936;   NCI:C103144;   ORDO:2849


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Perlman syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALPI alkaline phosphatase, intestinal ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:44,107,418...44,110,947 JBrowse link
G ARMC9 armadillo repeat containing 9 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:43,117,272...43,264,854
Ensembl chr25:43,110,182...43,292,123 		JBrowse link
G ATG16L1 autophagy related 16 like 1 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:44,761,034...44,800,033
Ensembl chr25:44,761,185...44,798,672 		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 chr25:43,287,937...43,293,416 JBrowse link
G C25H2orf72 chromosome 25 C2orf72 homolog ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:42,982,661...42,994,551
Ensembl chr25:42,983,520...42,991,856 		JBrowse link
G CAB39 calcium binding protein 39 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:42,752,798...42,801,257
Ensembl chr25:42,703,332...42,799,279 		JBrowse link
G CHRND cholinergic receptor nicotinic delta subunit ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:44,166,089...44,175,047
Ensembl chr25:44,165,819...44,174,216 		JBrowse link
G CHRNG cholinergic receptor nicotinic gamma subunit ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:44,178,149...44,183,623
Ensembl chr25:44,178,181...44,183,626 		JBrowse link
G COPS7B COP9 signalosome subunit 7B ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:43,637,170...43,663,218
Ensembl chr25:43,637,335...43,661,654 		JBrowse link
G CTR9 CTR9 homolog, Paf1/RNA polymerase II complex component ISO ClinVar Annotator: match by term: Predisposition to Wilms tumor ClinVar PMID:25099282 PMID:28492532 NCBI chr21:33,915,804...33,949,597
Ensembl chr21:33,915,772...33,949,103 		JBrowse link
G DGKD diacylglycerol kinase delta ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:44,851,827...44,961,352
Ensembl chr25:44,851,493...44,961,364 		JBrowse link
G DIS3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:25741868 NCBI chr22:26,908,502...26,935,368
Ensembl chr22:26,909,409...26,935,033 		JBrowse link
G DIS3L2 DIS3 like 3'-5' exoribonuclease 2 ISO ClinVar Annotator: match by term: Perlman syndrome OMIM
ClinVar		 PMID:6093533 PMID:9536098 PMID:10508986 PMID:16199547 PMID:16957732 More... NCBI chr25:43,754,382...44,099,497
Ensembl chr25:43,754,484...44,095,381 		JBrowse link
G DNAJB3 DnaJ heat shock protein family (Hsp40) member B3 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:45,143,010...45,144,366 JBrowse link
G ECEL1 endothelin converting enzyme like 1 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:44,120,200...44,128,049
Ensembl chr25:44,120,196...44,128,046 		JBrowse link
G EFHD1 EF-hand domain family member D1 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:44,281,673...44,307,347
Ensembl chr25:44,281,710...44,306,220 		JBrowse link
G EIF4E2 eukaryotic translation initiation factor 4E family member 2 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:44,192,037...44,203,401
Ensembl chr25:44,192,038...44,214,631 		JBrowse link
G GIGYF2 GRB10 interacting GYF protein 2 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:44,317,540...44,453,761
Ensembl chr25:44,317,517...44,452,064 		JBrowse link
G GPR55 G protein-coupled receptor 55 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:42,864,869...42,931,786
Ensembl chr25:42,866,416...42,908,332 		JBrowse link
G HJURP Holliday junction recognition protein ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:45,215,165...45,230,603
Ensembl chr25:45,215,380...45,230,547 		JBrowse link
G HTR2B 5-hydroxytryptamine receptor 2B ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:43,042,306...43,056,361
Ensembl chr25:43,042,173...43,056,612 		JBrowse link
G ITM2C integral membrane protein 2C ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:42,829,825...42,842,737
Ensembl chr25:42,829,608...42,883,055 		JBrowse link
G KCNJ13 potassium inwardly rectifying channel subfamily J member 13 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:44,377,848...44,388,537
Ensembl chr25:44,379,635...44,387,993 		JBrowse link
G LOC100856086 tigger transposable element-derived protein 1-like ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 1:99,378,328...99,401,217 JBrowse link
G LOC119866035 small nucleolar RNA SNORD82 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532
G LOC119866038 small nucleolar RNA SNORD20 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532
G MROH2A maestro heat like repeat family member 2A ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:45,166,192...45,213,634
Ensembl chr25:45,167,254...45,213,044 		JBrowse link
G NCL nucleolin ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:43,330,524...43,384,909
Ensembl chr25:43,330,799...43,384,258 		JBrowse link
G NEU2 neuraminidase 2 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:44,563,664...44,596,837
Ensembl chr25:44,563,411...44,595,653 		JBrowse link
G NGEF neuronal guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:44,473,422...44,547,838
Ensembl chr25:44,474,174...44,547,872 		JBrowse link
G NMUR1 neuromedin U receptor 1 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:43,395,711...43,400,670
Ensembl chr25:43,399,597...43,411,087 		JBrowse link
G NPPC natriuretic peptide C ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:43,714,545...43,718,969
Ensembl chr25:43,717,939...43,718,996 		JBrowse link
G PDE6D phosphodiesterase 6D ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:43,583,271...43,636,682
Ensembl chr25:43,583,901...43,636,790 		JBrowse link
G PRSS56 serine protease 56 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:44,157,247...44,165,625
Ensembl chr25:44,160,615...44,165,625 		JBrowse link
G PSMD1 proteasome 26S subunit, non-ATPase 1 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:43,003,127...43,096,281
Ensembl chr25:43,003,143...43,096,271 		JBrowse link
G PTMA prothymosin alpha ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:43,563,145...43,567,987
Ensembl chr25:43,562,395...43,675,699 		JBrowse link
G SAG S-antigen visual arrestin ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:44,800,141...44,843,580
Ensembl chr25:44,812,362...44,843,579 		JBrowse link
G SNORC secondary ossification center associated regulator of chondrocyte maturation ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:44,453,804...44,472,159
Ensembl chr25:44,466,852...44,470,935 		JBrowse link
G SP100 SP100 nuclear antigen ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:42,538,428...42,635,825
Ensembl chr25:42,538,571...42,635,649 		JBrowse link
G SP110 SP110 nuclear body protein ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:42,418,565...42,459,098
Ensembl chr25:42,419,980...42,459,051 		JBrowse link
G SP140 SP140 nuclear body protein ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:42,459,013...42,527,141
Ensembl chr25:42,459,084...42,527,093 		JBrowse link
G SPATA3 spermatogenesis associated 3 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:42,934,828...42,953,515
Ensembl chr25:42,939,335...42,953,590 		JBrowse link
G SPP2 secreted phosphoprotein 2 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:45,372,221...45,395,117
Ensembl chr25:45,372,254...45,395,082 		JBrowse link
G TEX44 testis expressed 44 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:43,453,253...43,454,573
Ensembl chr25:43,453,310...43,454,437 		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 chr25:45,261,092...45,357,560
Ensembl chr25:45,261,107...45,353,282 		JBrowse link
G UGT1A6 UDP glucuronosyltransferase 1 family, polypeptide A6 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:45,081,655...45,161,584
Ensembl chr25:45,032,130...45,160,941 		JBrowse link
G USP40 ubiquitin specific peptidase 40 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr25:44,965,276...45,021,539 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    syndrome 10064
      Perlman syndrome 47
Path 2
Term Annotations click to browse term
  disease 17773
    Developmental Disease 17564
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17452
        genetic disease 17430
          inherited metabolic disorder 5527
            carbohydrate metabolic disorder 2718
              glucose metabolism disease 1529
                diabetes mellitus 1382
                  Diabetes Complications 494
                    Fetal Macrosomia 52
                      Perlman syndrome 47
paths to the root