Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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:
Abnormality of facial soft tissue (HP:0011799)

Grandparent Node:
Hemangioma (HP:0001028)

Parent Node:
Facial hemangioma (HP:0000329)

..Starting node
..Facial midline hemangioma (HP:0004664)

Term ID:

4664

Name:

Facial midline hemangioma

Synonym:

Definition:

Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the midline region of the face.

Comments:

Reference:

HP:0004664

Genes and Diseases:

Child Nodes:

Sister Nodes:

Facial capillary hemangioma (HP:0000996)

Plaque-like facial hemangioma (HP:0007434)

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:0004664	HP:0004664	Facial midline hemangioma	0	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II	HP:0040283 - Occasional	166

Genes (1) :SLC26A2

Diseases (1) :ORPHA:56304

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