Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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:
Capillary hemangioma (HP:0005306)

Parent Node:
Facial hemangioma (HP:0000329)

..Starting node
..Facial capillary hemangioma (HP:0000996)

Term ID:

996

Name:

Facial capillary hemangioma

Synonym:

Definition:

Hemangioma, a benign tumor of the vascular endothelial cells with small endothelial spaces, occurring in the face.

Comments:

Reference:

HP:0000996

Genes and Diseases:

Child Nodes:

........

Midface capillary hemangioma (HP:0007452)

........

Midfrontal capillary hemangioma (HP:0007466)

........

Midline facial capillary hemangioma (HP:0007601)

Sister Nodes:

Facial midline hemangioma (HP:0004664)

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:0000996	HP:0000996	Facial capillary hemangioma	0	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome		83
HP:0000996	HP:0000996	Facial capillary hemangioma	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome	.	159
HP:0000996	HP:0000996	Facial capillary hemangioma	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040282 - Frequent	159
HP:0000996	HP:0000996	Facial capillary hemangioma	0	EPHB4 CL E G H	2050	3395	ORPHA:137667	Capillary malformation-arteriovenous malformation	HP:0040284 - Very rare	3
HP:0000996	HP:0000996	Facial capillary hemangioma	0	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome		92
HP:0000996	HP:0000996	Facial capillary hemangioma	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome		92
HP:0000996	HP:0000996	Facial capillary hemangioma	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0000996	HP:0000996	Facial capillary hemangioma	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0000996	HP:0000996	Facial capillary hemangioma	0	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa		39
HP:0000996	HP:0000996	Facial capillary hemangioma	0	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2	.	201
HP:0000996	HP:0000996	Facial capillary hemangioma	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		76
HP:0000996	HP:0000996	Facial capillary hemangioma	0	RASA1 CL E G H	5921	9871	ORPHA:137667	Capillary malformation-arteriovenous malformation	HP:0040284 - Very rare	88
HP:0000996	HP:0000996	Facial capillary hemangioma	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0000996	HP:0000996	Facial capillary hemangioma	0	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome		445
HP:0000996	HP:0007601	Midline facial capillary hemangioma	1	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome	HP:0040282 - Frequent	83
HP:0000996	HP:0007452	Midface capillary hemangioma	1	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.	92
HP:0000996	HP:0007452	Midface capillary hemangioma	1	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome	HP:0040282 - Frequent	92
HP:0000996	HP:0007601	Midline facial capillary hemangioma	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040283 - Occasional	270
HP:0000996	HP:0007601	Midline facial capillary hemangioma	1	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome	HP:0040284 - Very rare	270
HP:0000996	HP:0007466	Midfrontal capillary hemangioma	1	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa	.	39
HP:0000996	HP:0007466	Midfrontal capillary hemangioma	1	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040284 - Very rare	76
HP:0000996	HP:0007452	Midface capillary hemangioma	1	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.	445

Genes (11) :CD96 DHCR7 EPHB4 ESCO2 GLI3 MGAT2 OFD1 POR RASA1 RBM8A RECQL4

Diseases (13) :ORPHA:1308 OMIM:270400 ORPHA:818 ORPHA:137667 ORPHA:3103 OMIM:268300 ORPHA:672 OMIM:146510 OMIM:212066 OMIM:300209 ORPHA:95699 OMIM:274000 OMIM:218600

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen