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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
 primary_id: MESH:C536399
 alt_id: OMIM:267000;   RDO:0001976
 xref: GARD:3936;   NCI:C103144;   ORDO:2849
For additional species annotation, visit the Alliance of Genome Resources.


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Perlman syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Renal hamartomas nephroblastomatosis and fetal gigantism ClinVar PMID:25741868 NCBI chr15:83,466,330...83,494,107
Ensembl chr15:83,466,428...83,494,423
JBrowse link
G Dis3l2 DIS3-like 3'-5' exoribonuclease 2 ISO ClinVar Annotator: match by OMIM:267000
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Renal hamartomas nephroblastomatosis and fetal gigantism
ClinVar Annotator: match by term: Perlman syndrome
OMIM
ClinVar
CTD
PMID:6093533, PMID:10508986, PMID:16957732, PMID:22306653, PMID:23576526, PMID:23594738, PMID:23613427, PMID:24141620, PMID:25741868, PMID:28135719, PMID:28492532 NCBI chr 9:93,767,837...94,161,106
Ensembl chr 9:93,660,680...94,160,760
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Perlman syndrome 2
Path 2
Term Annotations click to browse term
  disease 16058
    Nutritional and Metabolic Diseases 4725
      disease of metabolism 4725
        acquired metabolic disease 2788
          carbohydrate metabolism disease 1760
            glucose metabolism disease 1760
              diabetes mellitus 1366
                gestational diabetes 45
                  Fetal Macrosomia 7
                    Perlman syndrome 2
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.