Human Phenotype Ontology 
Grandparent Node:
expandLocalized skin lesion (HP:0011355)help
Parent Node:
expandXanthomatosis (HP:0000991)help
..Starting node
..expandTuberous xanthoma (HP:0031290)help
Term ID: 31290
Name: Tuberous xanthoma
Synonym:
Definition: A type of xanthoma characterized by a nodular form. Tuberous xanthomas are firm subcutaneous nodules,whereby the overlying skin can have red or red-yellow color changes.
Comments:
Reference: HP:0031290
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAtheroeruptive xanthoma (HP:0001039) help
..expandEruptive xanthomas (HP:0001013) help
..expandTendon xanthomatosis (HP:0010874) help
..expandVerruciform xanthoma (HP:0031517) help
..expandXanthelasma (HP:0001114) help
..expandXanthomas of the palmar creases (HP:0025530) 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:0031290HP:0031290Tuberous xanthoma0ABCG8 CL E G H6424113887OMIM:210250Sitosterolemia 1.76
HP:0031290HP:0031290Tuberous xanthoma0CYP27A1 CL E G H15932605OMIM:213700Cerebrotendinous xanthomatosis.114
HP:0031290HP:0031290Tuberous xanthoma0LMF1 CL E G H6478814154OMIM:246650LIPASE DEFICIENCY, COMBINED3


Genes (3) :ABCG8 CYP27A1 LMF1

Diseases (3) :OMIM:210250 OMIM:213700 OMIM:246650
 

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