Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the kidney (HP:0000077)help
Grandparent Node:
expand
Urinary tract neoplasm (HP:0010786)help
Parent Node:
expand
Hamartoma (HP:0010566)help
Parent Node:
expand
Renal neoplasm (HP:0009726)help
..Starting node
..expand
Renal hamartoma (HP:0008696)help
Term ID: 8696
Name: Renal hamartoma
Synonym:
Definition: A disordered proliferation of mature tissues that are native to the kidneys.
Comments:
Reference: HP:0008696
Genes and Diseases:
 
       Child Nodes:
........expandRenal angiomyolipoma (HP:0006772) help

 Sister Nodes: 
..expandEmbryonal renal neoplasm (HP:0011794) help
..expandRenal cell carcinoma (HP:0005584) help
..expandRenal cortical adenoma (HP:0006735) help
..expandRenal oncocytoma (HP:0011798) help
..expandRenal pelvic carcinoma (HP:0006762) help
..expandRenal sarcoma (HP:0008663) help
..expandRenal transitional cell carcinoma (HP:0030409) 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:0008696HP:0008696Renal hamartoma0CDC73 CL E G H7957716783ORPHA:99880Hyperparathyroidism-jaw tumor syndromeHP:0040283 - Occasional169
HP:0008696HP:0008696Renal hamartoma0CDC73 CL E G H7957716783ORPHA:143Parathyroid carcinomaHP:0040283 - Occasional169
HP:0008696HP:0008696Renal hamartoma0CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4102
HP:0008696HP:0008696Renal hamartoma0CDKN1B CL E G H10271785OMIM:610755Multiple endocrine neoplasia, type IV102
HP:0008696HP:0008696Renal hamartoma0DIS3L2 CL E G H12956328648OMIM:267000Perlman syndrome.164
HP:0008696HP:0008696Renal hamartoma0IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complex23
HP:0008696HP:0008696Renal hamartoma0IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-223
HP:0008696HP:0008696Renal hamartoma0MVK CL E G H45987530OMIM:260920Hyper-Igd syndrome150
HP:0008696HP:0008696Renal hamartoma0TSC1 CL E G H724812362ORPHA:538Lymphangioleiomyomatosis1090
HP:0008696HP:0008696Renal hamartoma0TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complex1090
HP:0008696HP:0008696Renal hamartoma0TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-11090
HP:0008696HP:0008696Renal hamartoma0TSC2 CL E G H724912363ORPHA:538Lymphangioleiomyomatosis2738
HP:0008696HP:0008696Renal hamartoma0TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complex2738
HP:0008696HP:0008696Renal hamartoma0TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-22738
HP:0008696HP:0006772Renal angiomyolipoma1CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4HP:0040282 - Frequent102
HP:0008696HP:0006772Renal angiomyolipoma1CDKN1B CL E G H10271785OMIM:610755Multiple endocrine neoplasia, type IV.102
HP:0008696HP:0006772Renal angiomyolipoma1IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complexHP:0040283 - Occasional23
HP:0008696HP:0006772Renal angiomyolipoma1IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-2.23
HP:0008696HP:0006772Renal angiomyolipoma1MVK CL E G H45987530OMIM:260920Hyper-Igd syndrome150
HP:0008696HP:0006772Renal angiomyolipoma1TSC1 CL E G H724812362ORPHA:538LymphangioleiomyomatosisHP:0040282 - Frequent1090
HP:0008696HP:0006772Renal angiomyolipoma1TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complexHP:0040283 - Occasional1090
HP:0008696HP:0006772Renal angiomyolipoma1TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-11090
HP:0008696HP:0006772Renal angiomyolipoma1TSC2 CL E G H724912363ORPHA:538LymphangioleiomyomatosisHP:0040282 - Frequent2738
HP:0008696HP:0006772Renal angiomyolipoma1TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complexHP:0040283 - Occasional2738
HP:0008696HP:0006772Renal angiomyolipoma1TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-2.2738


Genes (7) :CDC73 CDKN1B DIS3L2 IFNG MVK TSC1 TSC2

Diseases (10) :ORPHA:99880 ORPHA:143 ORPHA:276152 OMIM:610755 OMIM:267000 ORPHA:805 OMIM:613254 OMIM:260920 ORPHA:538 OMIM:191100
 

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