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:
Hemangioma (HP:0001028)

Parent Node:
Cavernous hemangioma (HP:0001048)

..Starting node
..Cavernous hemangioma of the face (HP:0007486)

Term ID:

7486

Name:

Cavernous hemangioma of the face

Synonym:

Definition:

Comments:

Reference:

HP:0007486

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007486	HP:0007486	Cavernous hemangioma of the face	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria	15

Genes (1) :IDH1

Diseases (1) :ORPHA:99646

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