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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 16091
    syndrome 7036
      Perlman syndrome 2
Path 2
Term Annotations click to browse term
  disease 16091
    Nutritional and Metabolic Diseases 4704
      disease of metabolism 4704
        acquired metabolic disease 2753
          carbohydrate metabolism disease 1754
            glucose metabolism disease 1754
              diabetes mellitus 1365
                gestational diabetes 45
                  Fetal Macrosomia 7
                    Perlman syndrome 2
paths to the root