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
..Midline facial capillary hemangioma (HP:0007601)

Term ID:

7601

Name:

Midline facial capillary hemangioma

Synonym:

Definition:

Comments:

Reference:

HP:0007601

Genes and Diseases:

Child Nodes:

Sister Nodes:

Midface capillary hemangioma (HP:0007452)

Midfrontal capillary hemangioma (HP:0007466)

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:0007601	HP:0007601	Midline facial capillary hemangioma	0	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome	HP:0040282 - Frequent	83
HP:0007601	HP:0007601	Midline facial capillary hemangioma	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome	HP:0040284 - Very rare	270
HP:0007601	HP:0007601	Midline facial capillary hemangioma	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040283 - Occasional	270

Genes (2) :CD96 GLI3

Diseases (3) :ORPHA:1308 OMIM:146510 ORPHA:672

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