Human Phenotype Ontology 
Grandparent Node:
expand
Hamartoma (HP:0010566)help
Grandparent Node:
expand
Hamartoma of the orbital region (HP:0030670)help
Grandparent Node:
expand
Neoplasm of the eye (HP:0100012)help
Parent Node:
expand
Abnormality iris morphology (HP:0000525)help
Parent Node:
expand
Hamartoma of the eye (HP:0010568)help
..Starting node
..expand
Lisch nodules (HP:0009737)help
Term ID: 9737
Name: Lisch nodules
Synonym: Iris hamartomas
Definition: The presence of pigmented, oval and dome-shaped raised hamartomatous nevi of the iris..
Comments:
Reference: HP:0009737
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandConjunctival hamartoma (HP:0100780) help
..expandRetinal hamartoma (HP:0009594) 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:0009737HP:0009737Lisch nodules0MSH6 CL E G H29567329OMIM:619097MISMATCH REPAIR CANCER SYNDROME 3; MMRCS32232
HP:0009737HP:0009737Lisch nodules0NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndromeHP:0040282 - Frequent1952
HP:0009737HP:0009737Lisch nodules0NF1 CL E G H47637765ORPHA:363700Neurofibromatosis type 1 due to NF1 mutation or intragenic deletionHP:0040282 - Frequent1952
HP:0009737HP:0009737Lisch nodules0NF1 CL E G H47637765OMIM:162210Neurofibromatosis, familial spinal.1952
HP:0009737HP:0009737Lisch nodules0NF1 CL E G H47637765OMIM:162200Neurofibromatosis, type I1952
HP:0009737HP:0009737Lisch nodules0NF1 CL E G H47637765OMIM:601321Neurofibromatosis-Noonan syndrome1952


Genes (2) :MSH6 NF1

Diseases (6) :OMIM:619097 ORPHA:97685 ORPHA:363700 OMIM:162210 OMIM:162200 OMIM:601321
 

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