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 entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0009737HP:0009737Lisch nodules0NF1 CL E G H4763193520Café-au-lait macules with pulmonary stenosis193520C0553586OMIM1301164917765613113
HP:0009737HP:0009737Lisch nodules0NF1 CL E G H4763162210Neurofibromatosis, familial spinal162210C1834235OMIM1301164917765613113
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009737HP:0009737Lisch nodules0NF1 CL E G H4763162200Neurofibromatosis, type 1162200C0027831OMIM0301164917765613113
HP:0009737HP:0009737Lisch nodules0NF1 CL E G H4763601321Neurofibromatosis-Noonan syndrome601321C2931482OMIM0301164917765613113


Genes (1) :NF1

Diseases (4) :193520 162210 162200 601321
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.