Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Localized skin lesion (HP:0011355)

Parent Node:
Xanthomatosis (HP:0000991)

..Starting node
..Atheroeruptive xanthoma (HP:0001039)

Term ID:

1039

Name:

Atheroeruptive xanthoma

Synonym:

Definition:

Comments:

Reference:

HP:0001039

Genes and Diseases:

Child Nodes:

Sister Nodes:

Eruptive xanthomas (HP:0001013)

Tendon xanthomatosis (HP:0010874)

Tuberous xanthoma (HP:0031290)

Verruciform xanthoma (HP:0031517)

Xanthelasma (HP:0001114)

Xanthomas of the palmar creases (HP:0025530)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001039	HP:0001039	Atheroeruptive xanthoma	0	APOA5 CL E G H	116519	17288	OMIM:145750	Hypertriglyceridemia, familial	.	7

Genes (1) :APOA5

Diseases (1) :OMIM:145750

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