ONTOLOGY REPORT - ANNOTATIONS


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;   ORDO:2849
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Perlman syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease JBrowse link 15 83,466,330 83,494,107 RGD:8554872
G Dis3l2 DIS3-like 3'-5' exoribonuclease 2 JBrowse link 9 93,767,837 94,161,106 RGD:7240710
RGD:8554872
RGD:11554173

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  disease 14875
    syndrome 4220
      Perlman syndrome 2
Path 2
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  disease 14875
    Nutritional and Metabolic Diseases 4249
      disease of metabolism 4249
        acquired metabolic disease 2671
          carbohydrate metabolism disease 1739
            glucose metabolism disease 1739
              diabetes mellitus 1329
                gestational diabetes 46
                  Fetal Macrosomia 8
                    Perlman syndrome 2
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