Human Phenotype Ontology 
Grandparent Node:
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Vascular neoplasm (HP:0100742)help
Parent Node:
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Abnormality of facial soft tissue (HP:0011799)help
Parent Node:
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Hemangioma (HP:0001028)help
..Starting node
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Facial hemangioma (HP:0000329)help
Term ID: 329
Name: Facial hemangioma
Synonym: Facial hemangiomata
Definition: Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the face.
Comments:
Reference: HP:0000329
Genes and Diseases:
 
       Child Nodes:
........expandFacial capillary hemangioma (HP:0000996) help
................... HP:0007452 Midface capillary hemangioma
................... HP:0007466 Midfrontal capillary hemangioma
................... HP:0007601 Midline facial capillary hemangioma
........expandFacial midline hemangioma (HP:0004664) help
........expandPlaque-like facial hemangioma (HP:0007434) help

 Sister Nodes: 
..expandArachnoid hemangiomatosis (HP:0012222) help
..expandCapillary hemangioma (HP:0005306) help
..expandCardiac hemangioma (HP:0011673) help
..expandCavernous hemangioma (HP:0001048) help
..expandChoroidal hemangioma (HP:0007872) help
..expandGlabellar hemangioma (HP:0001076) help
..expandGlomeruloid hemangioma (HP:0031357) help
..expandHemangiomatosis (HP:0007461) help
..expandHepatic hemangioma (HP:0031207) help
..expandPerineal hemangioma (HP:0031449) help
..expandRetinal capillary hemangioma (HP:0009711) help
..expandTufted angioma (HP:0012329) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000329HP:0000329Facial hemangioma0ASXL1 CL E G H17102318318OMIM:605039Bohring-Opitz syndrome.145
HP:0000329HP:0000329Facial hemangioma0CCDC22 CL E G H2895228909ORPHA:73C syndromeHP:0040283 - Occasional33
HP:0000329HP:0000329Facial hemangioma0CD96 CL E G H1022516892ORPHA:1308C syndrome83
HP:0000329HP:0000329Facial hemangioma0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0000329HP:0000329Facial hemangioma0DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndrome159
HP:0000329HP:0000329Facial hemangioma0EPHB4 CL E G H20503395ORPHA:137667Capillary malformation-arteriovenous malformation3
HP:0000329HP:0000329Facial hemangioma0ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome92
HP:0000329HP:0000329Facial hemangioma0ESCO2 CL E G H15757027230ORPHA:3103Roberts syndrome92
HP:0000329HP:0000329Facial hemangioma0GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndrome270
HP:0000329HP:0000329Facial hemangioma0GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndrome270
HP:0000329HP:0000329Facial hemangioma0GNA14 CL E G H96304382ORPHA:1063Tufted angiomaHP:0040283 - Occasional
HP:0000329HP:0000329Facial hemangioma0GNAQ CL E G H27764390OMIM:185300Sturge-Weber syndrome.7
HP:0000329HP:0000329Facial hemangioma0MGAT2 CL E G H42477045OMIM:212066Congenital disorder of glycosylation, type IIa39
HP:0000329HP:0000329Facial hemangioma0OFD1 CL E G H84812567OMIM:300209Simpson-golabi-behmel syndrome, type 2201
HP:0000329HP:0000329Facial hemangioma0POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency76
HP:0000329HP:0000329Facial hemangioma0PPP1CB CL E G H55009282OMIM:617506Noonan syndrome-like disorder with loose anagen hair 29
HP:0000329HP:0000329Facial hemangioma0RASA1 CL E G H59219871ORPHA:137667Capillary malformation-arteriovenous malformation88
HP:0000329HP:0000329Facial hemangioma0RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0000329HP:0000329Facial hemangioma0RECQL4 CL E G H94019949OMIM:218600Baller-Gerold syndrome445
HP:0000329HP:0000329Facial hemangioma0SETBP1 CL E G H2604015573OMIM:269150Schinzel-Giedion midface-retraction syndrome.143
HP:0000329HP:0000329Facial hemangioma0SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndromeHP:0040282 - Frequent143
HP:0000329HP:0000329Facial hemangioma0SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type II166
HP:0000329HP:0000329Facial hemangioma0STAC3 CL E G H24632928423ORPHA:168572Native American myopathyHP:0040284 - Very rare14
HP:0000329HP:0000329Facial hemangioma0WASHC5 CL E G H989728984ORPHA:73C syndromeHP:0040283 - Occasional83
HP:0000329HP:0007434Plaque-like facial hemangioma1 CL E G H
HP:0000329HP:0000996Facial capillary hemangioma1CD96 CL E G H1022516892ORPHA:1308C syndrome83
HP:0000329HP:0000996Facial capillary hemangioma1DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndromeHP:0040282 - Frequent159
HP:0000329HP:0000996Facial capillary hemangioma1DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome.159
HP:0000329HP:0000996Facial capillary hemangioma1EPHB4 CL E G H20503395ORPHA:137667Capillary malformation-arteriovenous malformationHP:0040284 - Very rare3
HP:0000329HP:0000996Facial capillary hemangioma1ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome92
HP:0000329HP:0000996Facial capillary hemangioma1ESCO2 CL E G H15757027230ORPHA:3103Roberts syndrome92
HP:0000329HP:0000996Facial capillary hemangioma1GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndrome270
HP:0000329HP:0000996Facial capillary hemangioma1GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndrome270
HP:0000329HP:0000996Facial capillary hemangioma1MGAT2 CL E G H42477045OMIM:212066Congenital disorder of glycosylation, type IIa39
HP:0000329HP:0000996Facial capillary hemangioma1OFD1 CL E G H84812567OMIM:300209Simpson-golabi-behmel syndrome, type 2.201
HP:0000329HP:0000996Facial capillary hemangioma1POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency76
HP:0000329HP:0000996Facial capillary hemangioma1RASA1 CL E G H59219871ORPHA:137667Capillary malformation-arteriovenous malformationHP:0040284 - Very rare88
HP:0000329HP:0000996Facial capillary hemangioma1RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0000329HP:0000996Facial capillary hemangioma1RECQL4 CL E G H94019949OMIM:218600Baller-Gerold syndrome445
HP:0000329HP:0004664Facial midline hemangioma1SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type IIHP:0040283 - Occasional166
HP:0000329HP:0007601Midline facial capillary hemangioma2CD96 CL E G H1022516892ORPHA:1308C syndromeHP:0040282 - Frequent83
HP:0000329HP:0007452Midface capillary hemangioma2ESCO2 CL E G H15757027230ORPHA:3103Roberts syndromeHP:0040282 - Frequent92
HP:0000329HP:0007452Midface capillary hemangioma2ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome.92
HP:0000329HP:0007601Midline facial capillary hemangioma2GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndromeHP:0040284 - Very rare270
HP:0000329HP:0007601Midline facial capillary hemangioma2GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndromeHP:0040283 - Occasional270
HP:0000329HP:0007466Midfrontal capillary hemangioma2MGAT2 CL E G H42477045OMIM:212066Congenital disorder of glycosylation, type IIa.39
HP:0000329HP:0007466Midfrontal capillary hemangioma2POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyHP:0040284 - Very rare76
HP:0000329HP:0007452Midface capillary hemangioma2RECQL4 CL E G H94019949OMIM:218600Baller-Gerold syndrome.445


Genes (20) :ASXL1 CCDC22 CD96 DHCR7 EPHB4 ESCO2 GLI3 GNA14 GNAQ MGAT2 OFD1 POR PPP1CB RASA1 RBM8A RECQL4 SETBP1 SLC26A2 STAC3 WASHC5

Diseases (22) :OMIM:605039 ORPHA:7 ORPHA:1308 OMIM:270400 ORPHA:818 ORPHA:137667 OMIM:268300 ORPHA:3103 ORPHA:672 OMIM:146510 ORPHA:1063 OMIM:185300 OMIM:212066 OMIM:300209 ORPHA:95699 OMIM:617506 OMIM:274000 OMIM:218600 OMIM:269150 ORPHA:798 ORPHA:56304 ORPHA:168572
 

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