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:
Capillary hemangioma (HP:0005306)

Grandparent Node:
Facial hemangioma (HP:0000329)

Parent Node:
Facial capillary hemangioma (HP:0000996)

..Starting node
..Midface capillary hemangioma (HP:0007452)

Term ID:

7452

Name:

Midface capillary hemangioma

Synonym:

Midfacial capillary hemangioma

Definition:

Comments:

Reference:

HP:0007452

Genes and Diseases:

Child Nodes:

Sister Nodes:

Midfrontal capillary hemangioma (HP:0007466)

Midline facial capillary hemangioma (HP:0007601)

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:0007452	HP:0007452	Midface capillary hemangioma	0	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome	HP:0040282 - Frequent	92
HP:0007452	HP:0007452	Midface capillary hemangioma	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.	92
HP:0007452	HP:0007452	Midface capillary hemangioma	0	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.	445

Genes (2) :ESCO2 RECQL4

Diseases (3) :ORPHA:3103 OMIM:268300 OMIM:218600

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