Human Phenotype Ontology 
Grandparent Node:
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Vascular neoplasm (HP:0100742)help
Parent Node:
expand
Hemangioma (HP:0001028)help
..Starting node
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Hemangiomatosis (HP:0007461)help
Term ID: 7461
Name: Hemangiomatosis
Synonym:
Definition:
Comments:
Reference: HP:0007461
Genes and Diseases:
 
       Child Nodes:
........expandPulmonary capillary hemangiomatosis (HP:0005954) help
........expandVisceral angiomatosis (HP:0100761) 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
..expandFacial hemangioma (HP:0000329) help
..expandGlabellar hemangioma (HP:0001076) help
..expandGlomeruloid hemangioma (HP:0031357) 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:0007461HP:0007461Hemangiomatosis0ACVRL1 CL E G H94175ORPHA:774Hereditary hemorrhagic telangiectasia178
HP:0007461HP:0007461Hemangiomatosis0AKT1 CL E G H207391ORPHA:744Proteus syndrome54
HP:0007461HP:0007461Hemangiomatosis0CCND1 CL E G H5951582OMIM:193300Von hippel-lindau syndrome1
HP:0007461HP:0007461Hemangiomatosis0EIF2AK4 CL E G H44027519687ORPHA:199241Pulmonary capillary hemangiomatosis40
HP:0007461HP:0007461Hemangiomatosis0EIF2AK4 CL E G H44027519687OMIM:234810PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD240
HP:0007461HP:0007461Hemangiomatosis0ENG CL E G H20223349ORPHA:774Hereditary hemorrhagic telangiectasia186
HP:0007461HP:0007461Hemangiomatosis0FGFR1 CL E G H22603688ORPHA:2396Encephalocraniocutaneous lipomatosis172
HP:0007461HP:0007461Hemangiomatosis0FGFR2 CL E G H22633689ORPHA:1555Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome175
HP:0007461HP:0007461Hemangiomatosis0GDF2 CL E G H26584217ORPHA:774Hereditary hemorrhagic telangiectasia8
HP:0007461HP:0007461Hemangiomatosis0GNAQ CL E G H27764390ORPHA:3205Sturge-Weber syndrome7
HP:0007461HP:0007461Hemangiomatosis0IDH1 CL E G H34175382ORPHA:163634Maffucci syndromeHP:0040281 - Very frequent15
HP:0007461HP:0007461Hemangiomatosis0IDH1 CL E G H34175382ORPHA:296Ollier disease15
HP:0007461HP:0007461Hemangiomatosis0IDH2 CL E G H34185383ORPHA:163634Maffucci syndromeHP:0040281 - Very frequent29
HP:0007461HP:0007461Hemangiomatosis0IDH2 CL E G H34185383ORPHA:296Ollier disease29
HP:0007461HP:0007461Hemangiomatosis0KRAS CL E G H38456407ORPHA:2396Encephalocraniocutaneous lipomatosis196
HP:0007461HP:0007461Hemangiomatosis0PIK3CA CL E G H52908975ORPHA:60040Megalencephaly-capillary malformation-polymicrogyria syndrome162
HP:0007461HP:0007461Hemangiomatosis0PTEN CL E G H57289588ORPHA:109Bannayan-Riley-Ruvalcaba syndrome948
HP:0007461HP:0007461Hemangiomatosis0PTEN CL E G H57289588ORPHA:744Proteus syndrome948
HP:0007461HP:0007461Hemangiomatosis0PTEN CL E G H57289588ORPHA:137608Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome948
HP:0007461HP:0007461Hemangiomatosis0PTH1R CL E G H57459608ORPHA:296Ollier disease58
HP:0007461HP:0007461Hemangiomatosis0RASA1 CL E G H59219871ORPHA:90307Parkes Weber syndromeHP:0040284 - Very rare88
HP:0007461HP:0007461Hemangiomatosis0SLC26A2 CL E G H183610994ORPHA:628Diastrophic dysplasia166
HP:0007461HP:0007461Hemangiomatosis0SMAD4 CL E G H40896770ORPHA:774Hereditary hemorrhagic telangiectasia504
HP:0007461HP:0007461Hemangiomatosis0TEK CL E G H701011724ORPHA:1059Blue rubber bleb nevus78
HP:0007461HP:0007461Hemangiomatosis0VHL CL E G H742812687OMIM:193300Von hippel-lindau syndrome490
HP:0007461HP:0100761Visceral angiomatosis1ACVRL1 CL E G H94175ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040282 - Frequent178
HP:0007461HP:0100761Visceral angiomatosis1AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040282 - Frequent54
HP:0007461HP:0005954Pulmonary capillary hemangiomatosis1CCND1 CL E G H5951582OMIM:193300Von hippel-lindau syndrome.1
HP:0007461HP:0005954Pulmonary capillary hemangiomatosis1EIF2AK4 CL E G H44027519687ORPHA:199241Pulmonary capillary hemangiomatosisHP:0040281 - Very frequent40
HP:0007461HP:0005954Pulmonary capillary hemangiomatosis1EIF2AK4 CL E G H44027519687OMIM:234810PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD240
HP:0007461HP:0100761Visceral angiomatosis1ENG CL E G H20223349ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040282 - Frequent186
HP:0007461HP:0100761Visceral angiomatosis1FGFR1 CL E G H22603688ORPHA:2396Encephalocraniocutaneous lipomatosisHP:0040282 - Frequent172
HP:0007461HP:0100761Visceral angiomatosis1FGFR2 CL E G H22633689ORPHA:1555Cutis gyrata-acanthosis nigricans-craniosynostosis syndromeHP:0040281 - Very frequent175
HP:0007461HP:0100761Visceral angiomatosis1GDF2 CL E G H26584217ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040282 - Frequent8
HP:0007461HP:0100761Visceral angiomatosis1GNAQ CL E G H27764390ORPHA:3205Sturge-Weber syndromeHP:0040283 - Occasional7
HP:0007461HP:0100761Visceral angiomatosis1IDH1 CL E G H34175382ORPHA:296Ollier diseaseHP:0040281 - Very frequent15
HP:0007461HP:0100761Visceral angiomatosis1IDH2 CL E G H34185383ORPHA:296Ollier diseaseHP:0040281 - Very frequent29
HP:0007461HP:0100761Visceral angiomatosis1KRAS CL E G H38456407ORPHA:2396Encephalocraniocutaneous lipomatosisHP:0040282 - Frequent196
HP:0007461HP:0100761Visceral angiomatosis1PIK3CA CL E G H52908975ORPHA:60040Megalencephaly-capillary malformation-polymicrogyria syndromeHP:0040281 - Very frequent162
HP:0007461HP:0100761Visceral angiomatosis1PTEN CL E G H57289588ORPHA:109Bannayan-Riley-Ruvalcaba syndromeHP:0040281 - Very frequent948
HP:0007461HP:0100761Visceral angiomatosis1PTEN CL E G H57289588ORPHA:744Proteus syndromeHP:0040282 - Frequent948
HP:0007461HP:0100761Visceral angiomatosis1PTEN CL E G H57289588ORPHA:137608Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndromeHP:0040281 - Very frequent948
HP:0007461HP:0100761Visceral angiomatosis1PTH1R CL E G H57459608ORPHA:296Ollier diseaseHP:0040281 - Very frequent58
HP:0007461HP:0100761Visceral angiomatosis1SLC26A2 CL E G H183610994ORPHA:628Diastrophic dysplasiaHP:0040283 - Occasional166
HP:0007461HP:0100761Visceral angiomatosis1SMAD4 CL E G H40896770ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040282 - Frequent504
HP:0007461HP:0100761Visceral angiomatosis1TEK CL E G H701011724ORPHA:1059Blue rubber bleb nevusHP:0040281 - Very frequent78
HP:0007461HP:0005954Pulmonary capillary hemangiomatosis1VHL CL E G H742812687OMIM:193300Von hippel-lindau syndrome.490


Genes (20) :ACVRL1 AKT1 CCND1 EIF2AK4 ENG FGFR1 FGFR2 GDF2 GNAQ IDH1 IDH2 KRAS PIK3CA PTEN PTH1R RASA1 SLC26A2 SMAD4 TEK VHL

Diseases (16) :ORPHA:774 ORPHA:744 OMIM:193300 ORPHA:199241 OMIM:234810 ORPHA:2396 ORPHA:1555 ORPHA:3205 ORPHA:163634 ORPHA:296 ORPHA:60040 ORPHA:109 ORPHA:137608 ORPHA:90307 ORPHA:628 ORPHA:1059
 

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