FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term Perlman syndrome ID (Ontology) DOID:0060476 (Human Disease)
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.
Also Known As "nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor" ; "nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor" ; "renal hamartomas, nephroblastomatosis and fetal gigantism"
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
Records annotated with this exact term (annotations to child terms are NOT included)
Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       6
Human Disease Models (FBhh)  DOID       1
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
 Full annotation statements 
Relevant FlyBase reports
 Alleles Genes Human Disease Models
 Perlman syndrome       6      3      1
 ameliorates | Perlman syndrome       2       --       --
 exacerbates | Perlman syndrome       1       --       --
 for disease ribbon | Perlman syndrome       --       1       --
 model of | Perlman syndrome       3      1       --
Spanning Tree (Parents/Children)
Only view relationship: 
  disease
   |__syndrome
       |__Perlman syndrome  10 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a syndrome
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor" EXACT
    "nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor" EXACT
    "renal hamartomas, nephroblastomatosis and fetal gigantism" EXACT
Secondary IDs
hide External Crossreferences & Linkouts
GARD:3936
ICD10CM:Q87.3
MESH:C536399
MIM:267000
ORDO:2849