Human Phenotype Ontology 
Grandparent Node:
expandLocalized skin lesion (HP:0011355)help
Parent Node:
expandXanthomatosis (HP:0000991)help
..Starting node
..expandEruptive xanthomas (HP:0001013)help
Term ID: 1013
Name: Eruptive xanthomas
Synonym:
Definition: Eruptive xanthomas are yellow-orange-to-red-brown papules that are often surrounded by an erythematous halo. They appear in crops on the buttocks, extensor surfaces of the extremities, and flexural creases. Acutely, variable amounts of pruritus and pain occur.
Comments:
Reference: HP:0001013
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAtheroeruptive xanthoma (HP:0001039) help
..expandTendon xanthomatosis (HP:0010874) help
..expandTuberous xanthoma (HP:0031290) 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:0001013HP:0001013Eruptive xanthomas0APOC2 CL E G H344609OMIM:207750APOLIPOPROTEIN C-II DEFICIENCY27
HP:0001013HP:0001013Eruptive xanthomas0LIPC CL E G H39906619OMIM:614025HEPATIC LIPASE DEFICIENCY35
HP:0001013HP:0001013Eruptive xanthomas0LIPC CL E G H39906619ORPHA:140905Hyperlipidemia due to hepatic triacylglycerol lipase deficiencyHP:0040281 - Very frequent35
HP:0001013HP:0001013Eruptive xanthomas0LPL CL E G H40236677OMIM:238600Type I hyperlipoproteinemia.106


Genes (3) :APOC2 LIPC LPL

Diseases (4) :OMIM:207750 OMIM:614025 ORPHA:140905 OMIM:238600
 

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