Human Phenotype Ontology 
Grandparent Node:
expandEmbryonal neoplasm (HP:0002898)help
Grandparent Node:
expandRenal neoplasm (HP:0009726)help
Parent Node:
expandEmbryonal renal neoplasm (HP:0011794)help
..Starting node
..expandNephroblastomatosis (HP:0008643)help
Term ID: 8643
Name: Nephroblastomatosis
Synonym:
Definition: Presence of persistent islands of renal blastema in the postnatal kidney. Nephroblastomatosis represents a complex abnormality of nephrogenesis and has been defined as the persistence of metanephricblastema into infancy and childhood.
Comments:
Reference: HP:0008643
Genes and Diseases:
 
       Child Nodes:
........expandIntralobar nephroblastomatosis (HP:0011795) help
........expandPerilobar nephroblastomatosis (HP:0011796) help

 Sister Nodes: 
..expandCongenital mesoblastic nephroma (HP:0100881) help
..expandNephroblastoma (HP:0002667) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008643HP:0008643Nephroblastomatosis0BMPER CL E G H16866724154OMIM:608022DIAPHANOSPONDYLODYSOSTOSIS.78
HP:0008643HP:0008643Nephroblastomatosis0DIS3L2 CL E G H12956328648OMIM:267000Perlman syndrome.164
HP:0008643HP:0011796Perilobar nephroblastomatosis1 CL E G H
HP:0008643HP:0011795Intralobar nephroblastomatosis1 CL E G H


Genes (2) :BMPER DIS3L2

Diseases (2) :OMIM:608022 OMIM:267000
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.