Human Phenotype Ontology 
Grandparent Node:
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Neoplasm (HP:0002664)help
Parent Node:
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Abnormality of the vasculature (HP:0002597)help
Parent Node:
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Neoplasm by anatomical site (HP:0011793)help
..Starting node
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Vascular neoplasm (HP:0100742)help
Term ID: 100742
Name: Vascular neoplasm
Synonym: Blood vessel tumor; Blood vessel tumour
Definition: A benign or malignant neoplasm (tumour) originating in the vascular system.
Comments:
Reference: HP:0100742
Genes and Diseases:
 
       Child Nodes:
........expandHemangioma (HP:0001028) help
................... HP:0000329 Facial hemangioma
................... HP:0001048 Cavernous hemangioma
................... HP:0001076 Glabellar hemangioma
................... HP:0005306 Capillary hemangioma
................... HP:0007461 Hemangiomatosis
................... HP:0007872 Choroidal hemangioma
................... HP:0009711 Retinal capillary hemangioma
................... HP:0011673 Cardiac hemangioma
................... HP:0012222 Arachnoid hemangiomatosis
................... HP:0012329 Tufted angioma
................... HP:0031207 Hepatic hemangioma
................... HP:0031357 Glomeruloid hemangioma
................... HP:0031449 Perineal hemangioma
........expandLymphatic vessel neoplasm (HP:0012797) help
................... HP:0012798 Pulmonary lymphangiomyomatosis

 Sister Nodes: 
..expandHematological neoplasm (HP:0004377) help
..expandMalignant mesothelioma (HP:0100001) help
..expandNeoplasm of fatty tissue (HP:0200013) help
..expandNeoplasm of head and neck (HP:0012288) help
..expandNeoplasm of striated muscle (HP:0009728) help
..expandNeoplasm of the breast (HP:0100013) help
..expandNeoplasm of the ear (HP:0012780) help
..expandNeoplasm of the endocrine system (HP:0100568) help
..expandNeoplasm of the eye (HP:0100012) help
..expandNeoplasm of the gastrointestinal tract (HP:0007378) help
..expandNeoplasm of the genitourinary tract (HP:0007379) help
..expandNeoplasm of the heart (HP:0100544) help
..expandNeoplasm of the lip (HP:0100604) help
..expandNeoplasm of the nail (HP:0100826) help
..expandNeoplasm of the nervous system (HP:0004375) help
..expandNeoplasm of the oral cavity (HP:0100649) help
..expandNeoplasm of the pancreas (HP:0002894) help
..expandNeoplasm of the respiratory system (HP:0100606) help
..expandNeoplasm of the skeletal system (HP:0010622) help
..expandNeoplasm of the skin (HP:0008069) help
..expandNeoplasm of the thymus (HP:0100521) help
..expandRetroperitoneal chemodectomas (HP:0006729) help
..expandSoft tissue neoplasm (HP:0031459) 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:0100742HP:0100742Vascular neoplasm0ACVRL1 CL E G H94175ORPHA:774Hereditary hemorrhagic telangiectasia178
HP:0100742HP:0100742Vascular neoplasm0AGGF1 CL E G H5510924684ORPHA:90308Klippel-Trénaunay syndrome1
HP:0100742HP:0100742Vascular neoplasm0AKT1 CL E G H207391ORPHA:201Cowden syndrome54
HP:0100742HP:0100742Vascular neoplasm0AKT1 CL E G H207391ORPHA:744Proteus syndrome54
HP:0100742HP:0100742Vascular neoplasm0AKT1 CL E G H207391OMIM:176920Proteus syndrome, somatic54
HP:0100742HP:0100742Vascular neoplasm0ANTXR1 CL E G H8416821014ORPHA:2067GAPO syndrome8
HP:0100742HP:0100742Vascular neoplasm0ANTXR1 CL E G H8416821014OMIM:602089Hemangioma, capillary infantile8
HP:0100742HP:0100742Vascular neoplasm0APC2 CL E G H1029724036ORPHA:821Sotos syndrome1
HP:0100742HP:0100742Vascular neoplasm0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0100742HP:0100742Vascular neoplasm0ARL6IP6 CL E G H15118824048ORPHA:1556Cutis marmorata telangiectatica congenita1
HP:0100742HP:0100742Vascular neoplasm0ASXL1 CL E G H17102318318OMIM:605039Bohring-Opitz syndrome145
HP:0100742HP:0100742Vascular neoplasm0ATP2B1 CL E G H490814OMIM:619910
HP:0100742HP:0100742Vascular neoplasm0ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndrome5
HP:0100742HP:0100742Vascular neoplasm0BIN1 CL E G H2741052ORPHA:169189Autosomal dominant centronuclear myopathy99
HP:0100742HP:0100742Vascular neoplasm0BMPR1A CL E G H6571076ORPHA:79076Juvenile polyposis of infancy385
HP:0100742HP:0100742Vascular neoplasm0BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndrome276
HP:0100742HP:0100742Vascular neoplasm0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0100742HP:0100742Vascular neoplasm0CALR CL E G H8111455ORPHA:824Primary myelofibrosis1
HP:0100742HP:0100742Vascular neoplasm0CCDC22 CL E G H2895228909ORPHA:73C syndrome33
HP:0100742HP:0100742Vascular neoplasm0CCM2 CL E G H8360521708OMIM:603284Cerebral cavernous malformations-237
HP:0100742HP:0100742Vascular neoplasm0CCM2 CL E G H8360521708ORPHA:221061Familial cerebral cavernous malformation37
HP:0100742HP:0100742Vascular neoplasm0CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau disease1
HP:0100742HP:0100742Vascular neoplasm0CCND1 CL E G H5951582OMIM:193300Von hippel-lindau syndrome1
HP:0100742HP:0100742Vascular neoplasm0CD96 CL E G H1022516892ORPHA:1308C syndrome83
HP:0100742HP:0100742Vascular neoplasm0CDON CL E G H5093717104ORPHA:280200Microform holoprosencephaly200
HP:0100742HP:0100742Vascular neoplasm0CLPB CL E G H8157030664ORPHA:486Autosomal dominant severe congenital neutropenia38
HP:0100742HP:0100742Vascular neoplasm0CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0100742HP:0100742Vascular neoplasm0CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndrome1
HP:0100742HP:0100742Vascular neoplasm0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0100742HP:0100742Vascular neoplasm0CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndrome2
HP:0100742HP:0100742Vascular neoplasm0CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0100742HP:0100742Vascular neoplasm0CTSA CL E G H54769251OMIM:256540Galactosialidosis51
HP:0100742HP:0100742Vascular neoplasm0CYP26C1 CL E G H34066520577ORPHA:398189Focal facial dermal dysplasia type IV2
HP:0100742HP:0100742Vascular neoplasm0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0100742HP:0100742Vascular neoplasm0DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndrome159
HP:0100742HP:0100742Vascular neoplasm0DIS3L2 CL E G H12956328648ORPHA:2849Perlman syndrome164
HP:0100742HP:0100742Vascular neoplasm0DISP1 CL E G H8497619711ORPHA:280200Microform holoprosencephaly22
HP:0100742HP:0100742Vascular neoplasm0DLL1 CL E G H285142908ORPHA:280200Microform holoprosencephaly3
HP:0100742HP:0100742Vascular neoplasm0DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0100742HP:0100742Vascular neoplasm0DNM2 CL E G H17852974ORPHA:169189Autosomal dominant centronuclear myopathy167
HP:0100742HP:0100742Vascular neoplasm0DPM1 CL E G H88133005OMIM:608799Congenital disorder of glycosylation, type IE27
HP:0100742HP:0100742Vascular neoplasm0DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndrome14
HP:0100742HP:0100742Vascular neoplasm0DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndrome5
HP:0100742HP:0100742Vascular neoplasm0EIF2AK4 CL E G H44027519687ORPHA:199241Pulmonary capillary hemangiomatosis40
HP:0100742HP:0100742Vascular neoplasm0EIF2AK4 CL E G H44027519687OMIM:234810PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD240
HP:0100742HP:0100742Vascular neoplasm0ELANE CL E G H19913309ORPHA:486Autosomal dominant severe congenital neutropenia79
HP:0100742HP:0100742Vascular neoplasm0ENG CL E G H20223349ORPHA:774Hereditary hemorrhagic telangiectasia186
HP:0100742HP:0100742Vascular neoplasm0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0100742HP:0100742Vascular neoplasm0EPHB4 CL E G H20503395ORPHA:137667Capillary malformation-arteriovenous malformation3
HP:0100742HP:0100742Vascular neoplasm0ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome92
HP:0100742HP:0100742Vascular neoplasm0ESCO2 CL E G H15757027230ORPHA:3103Roberts syndrome92
HP:0100742HP:0100742Vascular neoplasm0EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome3
HP:0100742HP:0100742Vascular neoplasm0FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0100742HP:0100742Vascular neoplasm0FGF8 CL E G H22533686ORPHA:280200Microform holoprosencephaly17
HP:0100742HP:0100742Vascular neoplasm0FGFR1 CL E G H22603688ORPHA:2396Encephalocraniocutaneous lipomatosis172
HP:0100742HP:0100742Vascular neoplasm0FGFR1 CL E G H22603688ORPHA:280200Microform holoprosencephaly172
HP:0100742HP:0100742Vascular neoplasm0FGFR2 CL E G H22633689ORPHA:1555Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome175
HP:0100742HP:0100742Vascular neoplasm0FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0100742HP:0100742Vascular neoplasm0FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paraganglioma301
HP:0100742HP:0100742Vascular neoplasm0FLT4 CL E G H23243767OMIM:602089Hemangioma, capillary infantile90
HP:0100742HP:0100742Vascular neoplasm0FLT4 CL E G H23243767OMIM:153100Lymphatic malformation 190
HP:0100742HP:0100742Vascular neoplasm0FOXH1 CL E G H89283814ORPHA:280200Microform holoprosencephaly48
HP:0100742HP:0100742Vascular neoplasm0FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndrome
HP:0100742HP:0100742Vascular neoplasm0GAS1 CL E G H26194165ORPHA:280200Microform holoprosencephaly2
HP:0100742HP:0100742Vascular neoplasm0GDF2 CL E G H26584217ORPHA:774Hereditary hemorrhagic telangiectasia8
HP:0100742HP:0100742Vascular neoplasm0GFI1 CL E G H26724237ORPHA:486Autosomal dominant severe congenital neutropenia56
HP:0100742HP:0100742Vascular neoplasm0GLI2 CL E G H27364318ORPHA:280200Microform holoprosencephaly173
HP:0100742HP:0100742Vascular neoplasm0GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndrome270
HP:0100742HP:0100742Vascular neoplasm0GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndrome270
HP:0100742HP:0100742Vascular neoplasm0GNA11 CL E G H27674379ORPHA:1556Cutis marmorata telangiectatica congenita16
HP:0100742HP:0100742Vascular neoplasm0GNA14 CL E G H96304382ORPHA:1063Tufted angioma
HP:0100742HP:0100742Vascular neoplasm0GNAQ CL E G H27764390ORPHA:3205Sturge-Weber syndrome7
HP:0100742HP:0100742Vascular neoplasm0GNAQ CL E G H27764390OMIM:185300Sturge-Weber syndrome7
HP:0100742HP:0100742Vascular neoplasm0GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta240
HP:0100742HP:0100742Vascular neoplasm0GPC6 CL E G H100824454OMIM:258315Omodysplasia 199
HP:0100742HP:0100742Vascular neoplasm0H4C5 CL E G H83674790OMIM:619950
HP:0100742HP:0100742Vascular neoplasm0HOXD13 CL E G H32395136ORPHA:887VACTERL/VATER association25
HP:0100742HP:0100742Vascular neoplasm0HRAS CL E G H32655173ORPHA:2612Linear nevus sebaceus syndrome113
HP:0100742HP:0100742Vascular neoplasm0HRAS CL E G H32655173ORPHA:2874Phakomatosis pigmentokeratotica113
HP:0100742HP:0100742Vascular neoplasm0HRAS CL E G H32655173OMIM:163200Schimmelpenning-Feuerstein-Mims syndrome113
HP:0100742HP:0100742Vascular neoplasm0HS2ST1 CL E G H96535193OMIM:619194NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0100742HP:0100742Vascular neoplasm0IDH1 CL E G H34175382ORPHA:163634Maffucci syndrome15
HP:0100742HP:0100742Vascular neoplasm0IDH1 CL E G H34175382ORPHA:99646Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria15
HP:0100742HP:0100742Vascular neoplasm0IDH1 CL E G H34175382ORPHA:296Ollier disease15
HP:0100742HP:0100742Vascular neoplasm0IDH2 CL E G H34185383ORPHA:163634Maffucci syndrome29
HP:0100742HP:0100742Vascular neoplasm0IDH2 CL E G H34185383ORPHA:296Ollier disease29
HP:0100742HP:0100742Vascular neoplasm0IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complex23
HP:0100742HP:0100742Vascular neoplasm0IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-223
HP:0100742HP:0100742Vascular neoplasm0JAK2 CL E G H37176192ORPHA:824Primary myelofibrosis57
HP:0100742HP:0100742Vascular neoplasm0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndrome283
HP:0100742HP:0100742Vascular neoplasm0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutation283
HP:0100742HP:0100742Vascular neoplasm0KDM6B CL E G H2313529012OMIM:618505Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities9
HP:0100742HP:0100742Vascular neoplasm0KDR CL E G H37916307OMIM:602089Hemangioma, capillary infantile40
HP:0100742HP:0100742Vascular neoplasm0KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paraganglioma202
HP:0100742HP:0100742Vascular neoplasm0KIF1B CL E G H2309516636OMIM:171300PHEOCHROMOCYTOMA202
HP:0100742HP:0100742Vascular neoplasm0KLLN CL E G H10014474837212ORPHA:201Cowden syndrome1
HP:0100742HP:0100742Vascular neoplasm0KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndrome196
HP:0100742HP:0100742Vascular neoplasm0KRAS CL E G H38456407ORPHA:2396Encephalocraniocutaneous lipomatosis196
HP:0100742HP:0100742Vascular neoplasm0KRAS CL E G H38456407ORPHA:2612Linear nevus sebaceus syndrome196
HP:0100742HP:0100742Vascular neoplasm0KRAS CL E G H38456407OMIM:163200Schimmelpenning-Feuerstein-Mims syndrome196
HP:0100742HP:0100742Vascular neoplasm0KRIT1 CL E G H8891573OMIM:116860Cerebral cavernous malformations 192
HP:0100742HP:0100742Vascular neoplasm0KRIT1 CL E G H8891573ORPHA:221061Familial cerebral cavernous malformation92
HP:0100742HP:0100742Vascular neoplasm0LEMD3 CL E G H2359228887ORPHA:1306Buschke-Ollendorff syndrome68
HP:0100742HP:0100742Vascular neoplasm0LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0100742HP:0100742Vascular neoplasm0LETM1 CL E G H39546556ORPHA:280Wolf-Hirschhorn syndrome2
HP:0100742HP:0100742Vascular neoplasm0MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndrome134
HP:0100742HP:0100742Vascular neoplasm0MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndrome178
HP:0100742HP:0100742Vascular neoplasm0MAP2K2 CL E G H56056842OMIM:615280Cardiofaciocutaneous syndrome 4178
HP:0100742HP:0100742Vascular neoplasm0MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paraganglioma84
HP:0100742HP:0100742Vascular neoplasm0MAX CL E G H41496913OMIM:171300PHEOCHROMOCYTOMA84
HP:0100742HP:0100742Vascular neoplasm0MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paraganglioma4
HP:0100742HP:0100742Vascular neoplasm0MGAT2 CL E G H42477045OMIM:212066Congenital disorder of glycosylation, type IIa39
HP:0100742HP:0100742Vascular neoplasm0MPL CL E G H43527217ORPHA:824Primary myelofibrosis97
HP:0100742HP:0100742Vascular neoplasm0MSL3 CL E G H109437370OMIM:301032BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0100742HP:0100742Vascular neoplasm0MTMR14 CL E G H6441926190ORPHA:169189Autosomal dominant centronuclear myopathy7
HP:0100742HP:0100742Vascular neoplasm0MTOR CL E G H24753942ORPHA:457485Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome68
HP:0100742HP:0100742Vascular neoplasm0MYF6 CL E G H46187566ORPHA:169189Autosomal dominant centronuclear myopathy19
HP:0100742HP:0100742Vascular neoplasm0NDP CL E G H46937678ORPHA:649Norrie diseaseHP:0040281 - Very frequent39
HP:0100742HP:0100742Vascular neoplasm0NELFA CL E G H746912768ORPHA:280Wolf-Hirschhorn syndrome
HP:0100742HP:0100742Vascular neoplasm0NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paraganglioma1952
HP:0100742HP:0100742Vascular neoplasm0NF1 CL E G H47637765ORPHA:363700Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion1952
HP:0100742HP:0100742Vascular neoplasm0NODAL CL E G H48387865ORPHA:280200Microform holoprosencephaly45
HP:0100742HP:0100742Vascular neoplasm0NOTCH1 CL E G H48517881OMIM:616028Adams-Oliver syndrome 5452
HP:0100742HP:0100742Vascular neoplasm0NRAS CL E G H48937989ORPHA:2612Linear nevus sebaceus syndrome102
HP:0100742HP:0100742Vascular neoplasm0NRAS CL E G H48937989OMIM:163200Schimmelpenning-Feuerstein-Mims syndrome102
HP:0100742HP:0100742Vascular neoplasm0NSD1 CL E G H6432414234ORPHA:821Sotos syndrome544
HP:0100742HP:0100742Vascular neoplasm0NSD2 CL E G H746812766ORPHA:280Wolf-Hirschhorn syndrome118
HP:0100742HP:0100742Vascular neoplasm0NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome118
HP:0100742HP:0100742Vascular neoplasm0OFD1 CL E G H84812567OMIM:300209Simpson-golabi-behmel syndrome, type 2201
HP:0100742HP:0100742Vascular neoplasm0PDCD10 CL E G H112358761OMIM:603285Cerebral cavernous malformations 321
HP:0100742HP:0100742Vascular neoplasm0PDCD10 CL E G H112358761ORPHA:221061Familial cerebral cavernous malformation21
HP:0100742HP:0100742Vascular neoplasm0PIGG CL E G H5487225985ORPHA:280Wolf-Hirschhorn syndrome7
HP:0100742HP:0100742Vascular neoplasm0PIK3CA CL E G H52908975OMIM:619538CEREBRAL CAVERNOUS MALFORMATIONS 4; CCM4162
HP:0100742HP:0100742Vascular neoplasm0PIK3CA CL E G H52908975ORPHA:201Cowden syndrome162
HP:0100742HP:0100742Vascular neoplasm0PIK3CA CL E G H52908975ORPHA:60040Megalencephaly-capillary malformation-polymicrogyria syndrome162
HP:0100742HP:0100742Vascular neoplasm0POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency76
HP:0100742HP:0100742Vascular neoplasm0PPP1CB CL E G H55009282OMIM:617506Noonan syndrome-like disorder with loose anagen hair 29
HP:0100742HP:0100742Vascular neoplasm0PTCH1 CL E G H57279585ORPHA:280200Microform holoprosencephaly665
HP:0100742HP:0100742Vascular neoplasm0PTEN CL E G H57289588ORPHA:109Bannayan-Riley-Ruvalcaba syndrome948
HP:0100742HP:0100742Vascular neoplasm0PTEN CL E G H57289588ORPHA:201Cowden syndrome948
HP:0100742HP:0100742Vascular neoplasm0PTEN CL E G H57289588ORPHA:79076Juvenile polyposis of infancy948
HP:0100742HP:0100742Vascular neoplasm0PTEN CL E G H57289588ORPHA:744Proteus syndrome948
HP:0100742HP:0100742Vascular neoplasm0PTEN CL E G H57289588ORPHA:2969Proteus-like syndrome948
HP:0100742HP:0100742Vascular neoplasm0PTEN CL E G H57289588ORPHA:137608Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome948
HP:0100742HP:0100742Vascular neoplasm0PTH1R CL E G H57459608ORPHA:296Ollier disease58
HP:0100742HP:0100742Vascular neoplasm0PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndrome19
HP:0100742HP:0100742Vascular neoplasm0RASA1 CL E G H59219871ORPHA:137667Capillary malformation-arteriovenous malformation88
HP:0100742HP:0100742Vascular neoplasm0RASA1 CL E G H59219871OMIM:608354CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1; CMAVM188
HP:0100742HP:0100742Vascular neoplasm0RASA1 CL E G H59219871ORPHA:90307Parkes Weber syndrome88
HP:0100742HP:0100742Vascular neoplasm0RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0100742HP:0100742Vascular neoplasm0RECQL4 CL E G H94019949OMIM:218600Baller-Gerold syndrome445
HP:0100742HP:0100742Vascular neoplasm0RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paraganglioma572
HP:0100742HP:0100742Vascular neoplasm0RET CL E G H59799967OMIM:171300PHEOCHROMOCYTOMA572
HP:0100742HP:0100742Vascular neoplasm0RRAS2 CL E G H2280017271OMIM:618624NOONAN SYNDROME 12; NS121
HP:0100742HP:0100742Vascular neoplasm0RYR1 CL E G H626110483ORPHA:169189Autosomal dominant centronuclear myopathy1200
HP:0100742HP:0100742Vascular neoplasm0SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paraganglioma304
HP:0100742HP:0100742Vascular neoplasm0SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paraganglioma55
HP:0100742HP:0100742Vascular neoplasm0SDHB CL E G H639010681ORPHA:201Cowden syndrome237
HP:0100742HP:0100742Vascular neoplasm0SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paraganglioma237
HP:0100742HP:0100742Vascular neoplasm0SDHB CL E G H639010681OMIM:171300PHEOCHROMOCYTOMA237
HP:0100742HP:0100742Vascular neoplasm0SDHC CL E G H639110682ORPHA:201Cowden syndrome147
HP:0100742HP:0100742Vascular neoplasm0SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paraganglioma147
HP:0100742HP:0100742Vascular neoplasm0SDHD CL E G H639210683ORPHA:201Cowden syndrome129
HP:0100742HP:0100742Vascular neoplasm0SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paraganglioma129
HP:0100742HP:0100742Vascular neoplasm0SDHD CL E G H639210683OMIM:171300PHEOCHROMOCYTOMA129
HP:0100742HP:0100742Vascular neoplasm0SEC23A CL E G H1048410701OMIM:607812Craniolenticulosutural dysplasia2
HP:0100742HP:0100742Vascular neoplasm0SEC23A CL E G H1048410701ORPHA:50814Craniolenticulosutural dysplasia2
HP:0100742HP:0100742Vascular neoplasm0SEC23B CL E G H1048310702ORPHA:201Cowden syndrome60
HP:0100742HP:0100742Vascular neoplasm0SEC23B CL E G H1048310702OMIM:616858Cowden syndrome 760
HP:0100742HP:0100742Vascular neoplasm0SETBP1 CL E G H2604015573OMIM:269150Schinzel-Giedion midface-retraction syndrome143
HP:0100742HP:0100742Vascular neoplasm0SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndrome143
HP:0100742HP:0100742Vascular neoplasm0SETD2 CL E G H2907218420ORPHA:821Sotos syndrome60
HP:0100742HP:0100742Vascular neoplasm0SHH CL E G H646910848ORPHA:280200Microform holoprosencephaly67
HP:0100742HP:0100742Vascular neoplasm0SHOC2 CL E G H803615454OMIM:607721Noonan syndrome-like with loose anagen hair 174
HP:0100742HP:0100742Vascular neoplasm0SIX3 CL E G H649610889ORPHA:280200Microform holoprosencephaly32
HP:0100742HP:0100742Vascular neoplasm0SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0100742HP:0100742Vascular neoplasm0SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type II166
HP:0100742HP:0100742Vascular neoplasm0SLC26A2 CL E G H183610994ORPHA:628Diastrophic dysplasia166
HP:0100742HP:0100742Vascular neoplasm0SLC26A2 CL E G H183610994OMIM:222600Diastrophic dysplasia166
HP:0100742HP:0100742Vascular neoplasm0SMAD4 CL E G H40896770ORPHA:774Hereditary hemorrhagic telangiectasia504
HP:0100742HP:0100742Vascular neoplasm0SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0100742HP:0100742Vascular neoplasm0SRD5A3 CL E G H7964425812OMIM:612713Kahrizi syndrome80
HP:0100742HP:0100742Vascular neoplasm0SRP54 CL E G H672911301ORPHA:486Autosomal dominant severe congenital neutropenia
HP:0100742HP:0100742Vascular neoplasm0STAC3 CL E G H24632928423ORPHA:168572Native American myopathy14
HP:0100742HP:0100742Vascular neoplasm0SUFU CL E G H5168416466ORPHA:280200Microform holoprosencephaly124
HP:0100742HP:0100742Vascular neoplasm0TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndrome271
HP:0100742HP:0100742Vascular neoplasm0TBX2 CL E G H690911597OMIM:618223VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0100742HP:0100742Vascular neoplasm0TCIRG1 CL E G H1031211647ORPHA:486Autosomal dominant severe congenital neutropenia82
HP:0100742HP:0100742Vascular neoplasm0TDGF1 CL E G H699711701ORPHA:280200Microform holoprosencephaly1
HP:0100742HP:0100742Vascular neoplasm0TEK CL E G H701011724ORPHA:1059Blue rubber bleb nevus78
HP:0100742HP:0100742Vascular neoplasm0TET2 CL E G H5479025941ORPHA:824Primary myelofibrosis3
HP:0100742HP:0100742Vascular neoplasm0TFAP2A CL E G H702011742ORPHA:1297Branchio-oculo-facial syndrome12
HP:0100742HP:0100742Vascular neoplasm0TGIF1 CL E G H705011776ORPHA:280200Microform holoprosencephaly32
HP:0100742HP:0100742Vascular neoplasm0TMEM127 CL E G H5565426038ORPHA:29072Hereditary pheochromocytoma-paraganglioma131
HP:0100742HP:0100742Vascular neoplasm0TMEM127 CL E G H5565426038OMIM:171300PHEOCHROMOCYTOMA131
HP:0100742HP:0100742Vascular neoplasm0TSC1 CL E G H724812362ORPHA:538Lymphangioleiomyomatosis1090
HP:0100742HP:0100742Vascular neoplasm0TSC1 CL E G H724812362OMIM:606690LYMPHANGIOLEIOMYOMATOSIS1090
HP:0100742HP:0100742Vascular neoplasm0TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complex1090
HP:0100742HP:0100742Vascular neoplasm0TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-11090
HP:0100742HP:0100742Vascular neoplasm0TSC2 CL E G H724912363OMIM:606690LYMPHANGIOLEIOMYOMATOSIS2738
HP:0100742HP:0100742Vascular neoplasm0TSC2 CL E G H724912363ORPHA:538Lymphangioleiomyomatosis2738
HP:0100742HP:0100742Vascular neoplasm0TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complex2738
HP:0100742HP:0100742Vascular neoplasm0TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-22738
HP:0100742HP:0100742Vascular neoplasm0USF3 CL E G H20571730494ORPHA:201Cowden syndrome1
HP:0100742HP:0100742Vascular neoplasm0VHL CL E G H742812687OMIM:263400Erythrocytosis, familial, 2490
HP:0100742HP:0100742Vascular neoplasm0VHL CL E G H742812687ORPHA:29072Hereditary pheochromocytoma-paraganglioma490
HP:0100742HP:0100742Vascular neoplasm0VHL CL E G H742812687OMIM:171300PHEOCHROMOCYTOMA490
HP:0100742HP:0100742Vascular neoplasm0VHL CL E G H742812687ORPHA:892Von Hippel-Lindau disease490
HP:0100742HP:0100742Vascular neoplasm0VHL CL E G H742812687OMIM:193300Von hippel-lindau syndrome490
HP:0100742HP:0100742Vascular neoplasm0WASHC5 CL E G H989728984ORPHA:73C syndrome83
HP:0100742HP:0100742Vascular neoplasm0WNT5A CL E G H747412784ORPHA:3107Autosomal dominant Robinow syndrome98
HP:0100742HP:0100742Vascular neoplasm0ZIC2 CL E G H754612873ORPHA:280200Microform holoprosencephaly34
HP:0100742HP:0001028Hemangioma1ACVRL1 CL E G H94175ORPHA:774Hereditary hemorrhagic telangiectasia178
HP:0100742HP:0001028Hemangioma1AGGF1 CL E G H5510924684ORPHA:90308Klippel-Trénaunay syndromeHP:0040281 - Very frequent1
HP:0100742HP:0001028Hemangioma1AKT1 CL E G H207391ORPHA:201Cowden syndrome54
HP:0100742HP:0001028Hemangioma1AKT1 CL E G H207391ORPHA:744Proteus syndrome54
HP:0100742HP:0001028Hemangioma1AKT1 CL E G H207391OMIM:176920Proteus syndrome, somatic.54
HP:0100742HP:0001028Hemangioma1ANTXR1 CL E G H8416821014ORPHA:2067GAPO syndromeHP:0040283 - Occasional8
HP:0100742HP:0001028Hemangioma1ANTXR1 CL E G H8416821014OMIM:602089Hemangioma, capillary infantile8
HP:0100742HP:0001028Hemangioma1APC2 CL E G H1029724036ORPHA:821Sotos syndromeHP:0040284 - Very rare1
HP:0100742HP:0001028Hemangioma1ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0100742HP:0001028Hemangioma1ARL6IP6 CL E G H15118824048ORPHA:1556Cutis marmorata telangiectatica congenita1
HP:0100742HP:0001028Hemangioma1ASXL1 CL E G H17102318318OMIM:605039Bohring-Opitz syndrome145
HP:0100742HP:0001028Hemangioma1ATP2B1 CL E G H490814OMIM:619910
HP:0100742HP:0001028Hemangioma1ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndrome5
HP:0100742HP:0001028Hemangioma1BIN1 CL E G H2741052ORPHA:169189Autosomal dominant centronuclear myopathy99
HP:0100742HP:0001028Hemangioma1BMPR1A CL E G H6571076ORPHA:79076Juvenile polyposis of infancyHP:0040282 - Frequent385
HP:0100742HP:0001028Hemangioma1BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndrome276
HP:0100742HP:0001028Hemangioma1BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0100742HP:0001028Hemangioma1CALR CL E G H8111455ORPHA:824Primary myelofibrosisHP:0040284 - Very rare1
HP:0100742HP:0001028Hemangioma1CCDC22 CL E G H2895228909ORPHA:73C syndrome33
HP:0100742HP:0001028Hemangioma1CCM2 CL E G H8360521708OMIM:603284Cerebral cavernous malformations-237
HP:0100742HP:0001028Hemangioma1CCM2 CL E G H8360521708ORPHA:221061Familial cerebral cavernous malformationHP:0040282 - Frequent37
HP:0100742HP:0001028Hemangioma1CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau disease1
HP:0100742HP:0001028Hemangioma1CCND1 CL E G H5951582OMIM:193300Von hippel-lindau syndrome1
HP:0100742HP:0001028Hemangioma1CD96 CL E G H1022516892ORPHA:1308C syndrome83
HP:0100742HP:0001028Hemangioma1CDON CL E G H5093717104ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional200
HP:0100742HP:0001028Hemangioma1CLPB CL E G H8157030664ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040283 - Occasional38
HP:0100742HP:0001028Hemangioma1CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0100742HP:0001028Hemangioma1CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent1
HP:0100742HP:0001028Hemangioma1CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0100742HP:0001028Hemangioma1CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent2
HP:0100742HP:0001028Hemangioma1CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0100742HP:0001028Hemangioma1CTSA CL E G H54769251OMIM:256540Galactosialidosis.51
HP:0100742HP:0001028Hemangioma1CYP26C1 CL E G H34066520577ORPHA:398189Focal facial dermal dysplasia type IVHP:0040282 - Frequent2
HP:0100742HP:0001028Hemangioma1DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0100742HP:0001028Hemangioma1DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndrome159
HP:0100742HP:0001028Hemangioma1DIS3L2 CL E G H12956328648ORPHA:2849Perlman syndrome164
HP:0100742HP:0001028Hemangioma1DISP1 CL E G H8497619711ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional22
HP:0100742HP:0001028Hemangioma1DLL1 CL E G H285142908ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional3
HP:0100742HP:0001028Hemangioma1DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0100742HP:0001028Hemangioma1DNM2 CL E G H17852974ORPHA:169189Autosomal dominant centronuclear myopathy167
HP:0100742HP:0001028Hemangioma1DPM1 CL E G H88133005OMIM:608799Congenital disorder of glycosylation, type IE.27
HP:0100742HP:0001028Hemangioma1DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndrome14
HP:0100742HP:0001028Hemangioma1DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndrome5
HP:0100742HP:0001028Hemangioma1EIF2AK4 CL E G H44027519687ORPHA:199241Pulmonary capillary hemangiomatosis40
HP:0100742HP:0001028Hemangioma1EIF2AK4 CL E G H44027519687OMIM:234810PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD240
HP:0100742HP:0001028Hemangioma1ELANE CL E G H19913309ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040283 - Occasional79
HP:0100742HP:0001028Hemangioma1ENG CL E G H20223349ORPHA:774Hereditary hemorrhagic telangiectasia186
HP:0100742HP:0001028Hemangioma1EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0100742HP:0001028Hemangioma1EPHB4 CL E G H20503395ORPHA:137667Capillary malformation-arteriovenous malformationHP:0040284 - Very rare3
HP:0100742HP:0001028Hemangioma1ESCO2 CL E G H15757027230ORPHA:3103Roberts syndrome92
HP:0100742HP:0001028Hemangioma1ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome92
HP:0100742HP:0001028Hemangioma1EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome3
HP:0100742HP:0001028Hemangioma1FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0100742HP:0001028Hemangioma1FGF8 CL E G H22533686ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional17
HP:0100742HP:0001028Hemangioma1FGFR1 CL E G H22603688ORPHA:2396Encephalocraniocutaneous lipomatosis172
HP:0100742HP:0001028Hemangioma1FGFR1 CL E G H22603688ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional172
HP:0100742HP:0001028Hemangioma1FGFR2 CL E G H22633689ORPHA:1555Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome175
HP:0100742HP:0001028Hemangioma1FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0100742HP:0001028Hemangioma1FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paraganglioma301
HP:0100742HP:0001028Hemangioma1FLT4 CL E G H23243767OMIM:602089Hemangioma, capillary infantile90
HP:0100742HP:0001028Hemangioma1FLT4 CL E G H23243767OMIM:153100Lymphatic malformation 1.90
HP:0100742HP:0001028Hemangioma1FOXH1 CL E G H89283814ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional48
HP:0100742HP:0001028Hemangioma1FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndrome
HP:0100742HP:0001028Hemangioma1GAS1 CL E G H26194165ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional2
HP:0100742HP:0001028Hemangioma1GDF2 CL E G H26584217ORPHA:774Hereditary hemorrhagic telangiectasia8
HP:0100742HP:0001028Hemangioma1GFI1 CL E G H26724237ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040283 - Occasional56
HP:0100742HP:0001028Hemangioma1GLI2 CL E G H27364318ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional173
HP:0100742HP:0001028Hemangioma1GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndrome270
HP:0100742HP:0001028Hemangioma1GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndrome270
HP:0100742HP:0001028Hemangioma1GNA11 CL E G H27674379ORPHA:1556Cutis marmorata telangiectatica congenita16
HP:0100742HP:0001028Hemangioma1GNA14 CL E G H96304382ORPHA:1063Tufted angioma
HP:0100742HP:0001028Hemangioma1GNAQ CL E G H27764390ORPHA:3205Sturge-Weber syndrome7
HP:0100742HP:0001028Hemangioma1GNAQ CL E G H27764390OMIM:185300Sturge-Weber syndrome7
HP:0100742HP:0001028Hemangioma1GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta240
HP:0100742HP:0001028Hemangioma1GPC6 CL E G H100824454OMIM:258315Omodysplasia 1.99
HP:0100742HP:0001028Hemangioma1H4C5 CL E G H83674790OMIM:619950
HP:0100742HP:0001028Hemangioma1HOXD13 CL E G H32395136ORPHA:887VACTERL/VATER association25
HP:0100742HP:0001028Hemangioma1HRAS CL E G H32655173ORPHA:2612Linear nevus sebaceus syndrome113
HP:0100742HP:0001028Hemangioma1HRAS CL E G H32655173ORPHA:2874Phakomatosis pigmentokeratotica113
HP:0100742HP:0001028Hemangioma1HRAS CL E G H32655173OMIM:163200Schimmelpenning-Feuerstein-Mims syndrome.113
HP:0100742HP:0001028Hemangioma1HS2ST1 CL E G H96535193OMIM:619194NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0100742HP:0001028Hemangioma1IDH1 CL E G H34175382ORPHA:163634Maffucci syndrome15
HP:0100742HP:0001028Hemangioma1IDH1 CL E G H34175382ORPHA:99646Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria15
HP:0100742HP:0001028Hemangioma1IDH1 CL E G H34175382ORPHA:296Ollier diseaseHP:0040281 - Very frequent15
HP:0100742HP:0001028Hemangioma1IDH2 CL E G H34185383ORPHA:163634Maffucci syndrome29
HP:0100742HP:0001028Hemangioma1IDH2 CL E G H34185383ORPHA:296Ollier diseaseHP:0040281 - Very frequent29
HP:0100742HP:0012797Lymphatic vessel neoplasm1IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complex23
HP:0100742HP:0012797Lymphatic vessel neoplasm1IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-223
HP:0100742HP:0001028Hemangioma1JAK2 CL E G H37176192ORPHA:824Primary myelofibrosisHP:0040284 - Very rare57
HP:0100742HP:0001028Hemangioma1KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040284 - Very rare283
HP:0100742HP:0001028Hemangioma1KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040284 - Very rare283
HP:0100742HP:0001028Hemangioma1KDM6B CL E G H2313529012OMIM:618505Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities.9
HP:0100742HP:0001028Hemangioma1KDR CL E G H37916307OMIM:602089Hemangioma, capillary infantile40
HP:0100742HP:0001028Hemangioma1KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paraganglioma202
HP:0100742HP:0001028Hemangioma1KIF1B CL E G H2309516636OMIM:171300PHEOCHROMOCYTOMA.202
HP:0100742HP:0001028Hemangioma1KLLN CL E G H10014474837212ORPHA:201Cowden syndrome1
HP:0100742HP:0001028Hemangioma1KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndrome196
HP:0100742HP:0001028Hemangioma1KRAS CL E G H38456407ORPHA:2396Encephalocraniocutaneous lipomatosis196
HP:0100742HP:0001028Hemangioma1KRAS CL E G H38456407ORPHA:2612Linear nevus sebaceus syndrome196
HP:0100742HP:0001028Hemangioma1KRAS CL E G H38456407OMIM:163200Schimmelpenning-Feuerstein-Mims syndrome.196
HP:0100742HP:0001028Hemangioma1KRIT1 CL E G H8891573OMIM:116860Cerebral cavernous malformations 192
HP:0100742HP:0001028Hemangioma1KRIT1 CL E G H8891573ORPHA:221061Familial cerebral cavernous malformationHP:0040282 - Frequent92
HP:0100742HP:0001028Hemangioma1LEMD3 CL E G H2359228887ORPHA:1306Buschke-Ollendorff syndromeHP:0040283 - Occasional68
HP:0100742HP:0001028Hemangioma1LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0100742HP:0001028Hemangioma1LETM1 CL E G H39546556ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent2
HP:0100742HP:0001028Hemangioma1MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndrome134
HP:0100742HP:0001028Hemangioma1MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndrome178
HP:0100742HP:0001028Hemangioma1MAP2K2 CL E G H56056842OMIM:615280Cardiofaciocutaneous syndrome 4178
HP:0100742HP:0001028Hemangioma1MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paraganglioma84
HP:0100742HP:0001028Hemangioma1MAX CL E G H41496913OMIM:171300PHEOCHROMOCYTOMA.84
HP:0100742HP:0001028Hemangioma1MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paraganglioma4
HP:0100742HP:0001028Hemangioma1MGAT2 CL E G H42477045OMIM:212066Congenital disorder of glycosylation, type IIa39
HP:0100742HP:0001028Hemangioma1MPL CL E G H43527217ORPHA:824Primary myelofibrosisHP:0040284 - Very rare97
HP:0100742HP:0001028Hemangioma1MSL3 CL E G H109437370OMIM:301032BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0100742HP:0001028Hemangioma1MTMR14 CL E G H6441926190ORPHA:169189Autosomal dominant centronuclear myopathy7
HP:0100742HP:0001028Hemangioma1MTOR CL E G H24753942ORPHA:457485Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndromeHP:0040283 - Occasional68
HP:0100742HP:0001028Hemangioma1MYF6 CL E G H46187566ORPHA:169189Autosomal dominant centronuclear myopathy19
HP:0100742HP:0001028Hemangioma1NELFA CL E G H746912768ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent
HP:0100742HP:0001028Hemangioma1NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paraganglioma1952
HP:0100742HP:0001028Hemangioma1NF1 CL E G H47637765ORPHA:363700Neurofibromatosis type 1 due to NF1 mutation or intragenic deletionHP:0040284 - Very rare1952
HP:0100742HP:0001028Hemangioma1NODAL CL E G H48387865ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional45
HP:0100742HP:0001028Hemangioma1NOTCH1 CL E G H48517881OMIM:616028Adams-Oliver syndrome 5452
HP:0100742HP:0001028Hemangioma1NRAS CL E G H48937989ORPHA:2612Linear nevus sebaceus syndrome102
HP:0100742HP:0001028Hemangioma1NRAS CL E G H48937989OMIM:163200Schimmelpenning-Feuerstein-Mims syndrome.102
HP:0100742HP:0001028Hemangioma1NSD1 CL E G H6432414234ORPHA:821Sotos syndromeHP:0040284 - Very rare544
HP:0100742HP:0001028Hemangioma1NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome118
HP:0100742HP:0001028Hemangioma1NSD2 CL E G H746812766ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent118
HP:0100742HP:0001028Hemangioma1OFD1 CL E G H84812567OMIM:300209Simpson-golabi-behmel syndrome, type 2201
HP:0100742HP:0001028Hemangioma1PDCD10 CL E G H112358761OMIM:603285Cerebral cavernous malformations 321
HP:0100742HP:0001028Hemangioma1PDCD10 CL E G H112358761ORPHA:221061Familial cerebral cavernous malformationHP:0040282 - Frequent21
HP:0100742HP:0001028Hemangioma1PIGG CL E G H5487225985ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent7
HP:0100742HP:0001028Hemangioma1PIK3CA CL E G H52908975OMIM:619538CEREBRAL CAVERNOUS MALFORMATIONS 4; CCM4162
HP:0100742HP:0001028Hemangioma1PIK3CA CL E G H52908975ORPHA:201Cowden syndrome162
HP:0100742HP:0001028Hemangioma1PIK3CA CL E G H52908975ORPHA:60040Megalencephaly-capillary malformation-polymicrogyria syndrome162
HP:0100742HP:0001028Hemangioma1POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency76
HP:0100742HP:0001028Hemangioma1PPP1CB CL E G H55009282OMIM:617506Noonan syndrome-like disorder with loose anagen hair 29
HP:0100742HP:0001028Hemangioma1PTCH1 CL E G H57279585ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional665
HP:0100742HP:0001028Hemangioma1PTEN CL E G H57289588ORPHA:109Bannayan-Riley-Ruvalcaba syndrome948
HP:0100742HP:0001028Hemangioma1PTEN CL E G H57289588ORPHA:201Cowden syndrome948
HP:0100742HP:0001028Hemangioma1PTEN CL E G H57289588ORPHA:79076Juvenile polyposis of infancyHP:0040282 - Frequent948
HP:0100742HP:0001028Hemangioma1PTEN CL E G H57289588ORPHA:744Proteus syndrome948
HP:0100742HP:0001028Hemangioma1PTEN CL E G H57289588ORPHA:2969Proteus-like syndromeHP:0040281 - Very frequent948
HP:0100742HP:0001028Hemangioma1PTEN CL E G H57289588ORPHA:137608Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome948
HP:0100742HP:0001028Hemangioma1PTH1R CL E G H57459608ORPHA:296Ollier diseaseHP:0040281 - Very frequent58
HP:0100742HP:0001028Hemangioma1PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndrome19
HP:0100742HP:0001028Hemangioma1RASA1 CL E G H59219871ORPHA:137667Capillary malformation-arteriovenous malformationHP:0040284 - Very rare88
HP:0100742HP:0001028Hemangioma1RASA1 CL E G H59219871OMIM:608354CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1; CMAVM188
HP:0100742HP:0001028Hemangioma1RASA1 CL E G H59219871ORPHA:90307Parkes Weber syndrome88
HP:0100742HP:0001028Hemangioma1RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0100742HP:0001028Hemangioma1RECQL4 CL E G H94019949OMIM:218600Baller-Gerold syndrome445
HP:0100742HP:0001028Hemangioma1RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paraganglioma572
HP:0100742HP:0001028Hemangioma1RET CL E G H59799967OMIM:171300PHEOCHROMOCYTOMA.572
HP:0100742HP:0001028Hemangioma1RRAS2 CL E G H2280017271OMIM:618624NOONAN SYNDROME 12; NS121
HP:0100742HP:0001028Hemangioma1RYR1 CL E G H626110483ORPHA:169189Autosomal dominant centronuclear myopathy1200
HP:0100742HP:0001028Hemangioma1SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paraganglioma304
HP:0100742HP:0001028Hemangioma1SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paraganglioma55
HP:0100742HP:0001028Hemangioma1SDHB CL E G H639010681ORPHA:201Cowden syndrome237
HP:0100742HP:0001028Hemangioma1SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paraganglioma237
HP:0100742HP:0001028Hemangioma1SDHB CL E G H639010681OMIM:171300PHEOCHROMOCYTOMA.237
HP:0100742HP:0001028Hemangioma1SDHC CL E G H639110682ORPHA:201Cowden syndrome147
HP:0100742HP:0001028Hemangioma1SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paraganglioma147
HP:0100742HP:0001028Hemangioma1SDHD CL E G H639210683ORPHA:201Cowden syndrome129
HP:0100742HP:0001028Hemangioma1SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paraganglioma129
HP:0100742HP:0001028Hemangioma1SDHD CL E G H639210683OMIM:171300PHEOCHROMOCYTOMA.129
HP:0100742HP:0001028Hemangioma1SEC23A CL E G H1048410701OMIM:607812Craniolenticulosutural dysplasia2
HP:0100742HP:0001028Hemangioma1SEC23A CL E G H1048410701ORPHA:50814Craniolenticulosutural dysplasia2
HP:0100742HP:0001028Hemangioma1SEC23B CL E G H1048310702ORPHA:201Cowden syndrome60
HP:0100742HP:0001028Hemangioma1SEC23B CL E G H1048310702OMIM:616858Cowden syndrome 760
HP:0100742HP:0001028Hemangioma1SETBP1 CL E G H2604015573OMIM:269150Schinzel-Giedion midface-retraction syndrome143
HP:0100742HP:0001028Hemangioma1SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndrome143
HP:0100742HP:0001028Hemangioma1SETD2 CL E G H2907218420ORPHA:821Sotos syndromeHP:0040284 - Very rare60
HP:0100742HP:0001028Hemangioma1SHH CL E G H646910848ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional67
HP:0100742HP:0001028Hemangioma1SHOC2 CL E G H803615454OMIM:607721Noonan syndrome-like with loose anagen hair 174
HP:0100742HP:0001028Hemangioma1SIX3 CL E G H649610889ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional32
HP:0100742HP:0001028Hemangioma1SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0100742HP:0001028Hemangioma1SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type II166
HP:0100742HP:0001028Hemangioma1SLC26A2 CL E G H183610994ORPHA:628Diastrophic dysplasia166
HP:0100742HP:0001028Hemangioma1SLC26A2 CL E G H183610994OMIM:222600Diastrophic dysplasia166
HP:0100742HP:0001028Hemangioma1SMAD4 CL E G H40896770ORPHA:774Hereditary hemorrhagic telangiectasia504
HP:0100742HP:0001028Hemangioma1SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0100742HP:0001028Hemangioma1SRD5A3 CL E G H7964425812OMIM:612713Kahrizi syndrome80
HP:0100742HP:0001028Hemangioma1SRP54 CL E G H672911301ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040283 - Occasional
HP:0100742HP:0001028Hemangioma1STAC3 CL E G H24632928423ORPHA:168572Native American myopathy14
HP:0100742HP:0001028Hemangioma1SUFU CL E G H5168416466ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional124
HP:0100742HP:0001028Hemangioma1TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndrome271
HP:0100742HP:0001028Hemangioma1TBX2 CL E G H690911597OMIM:618223VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0100742HP:0001028Hemangioma1TCIRG1 CL E G H1031211647ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040283 - Occasional82
HP:0100742HP:0001028Hemangioma1TDGF1 CL E G H699711701ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional1
HP:0100742HP:0001028Hemangioma1TEK CL E G H701011724ORPHA:1059Blue rubber bleb nevus78
HP:0100742HP:0001028Hemangioma1TET2 CL E G H5479025941ORPHA:824Primary myelofibrosisHP:0040284 - Very rare3
HP:0100742HP:0001028Hemangioma1TFAP2A CL E G H702011742ORPHA:1297Branchio-oculo-facial syndromeHP:0040281 - Very frequent12
HP:0100742HP:0001028Hemangioma1TGIF1 CL E G H705011776ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional32
HP:0100742HP:0001028Hemangioma1TMEM127 CL E G H5565426038ORPHA:29072Hereditary pheochromocytoma-paraganglioma131
HP:0100742HP:0001028Hemangioma1TMEM127 CL E G H5565426038OMIM:171300PHEOCHROMOCYTOMA.131
HP:0100742HP:0012797Lymphatic vessel neoplasm1TSC1 CL E G H724812362OMIM:606690LYMPHANGIOLEIOMYOMATOSIS1090
HP:0100742HP:0012797Lymphatic vessel neoplasm1TSC1 CL E G H724812362ORPHA:538Lymphangioleiomyomatosis1090
HP:0100742HP:0012797Lymphatic vessel neoplasm1TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complex1090
HP:0100742HP:0012797Lymphatic vessel neoplasm1TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-11090
HP:0100742HP:0012797Lymphatic vessel neoplasm1TSC2 CL E G H724912363OMIM:606690LYMPHANGIOLEIOMYOMATOSIS2738
HP:0100742HP:0012797Lymphatic vessel neoplasm1TSC2 CL E G H724912363ORPHA:538Lymphangioleiomyomatosis2738
HP:0100742HP:0012797Lymphatic vessel neoplasm1TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complex2738
HP:0100742HP:0012797Lymphatic vessel neoplasm1TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-22738
HP:0100742HP:0001028Hemangioma1USF3 CL E G H20571730494ORPHA:201Cowden syndrome1
HP:0100742HP:0001028Hemangioma1VHL CL E G H742812687OMIM:263400Erythrocytosis, familial, 2.490
HP:0100742HP:0001028Hemangioma1VHL CL E G H742812687ORPHA:29072Hereditary pheochromocytoma-paraganglioma490
HP:0100742HP:0001028Hemangioma1VHL CL E G H742812687OMIM:171300PHEOCHROMOCYTOMA.490
HP:0100742HP:0001028Hemangioma1VHL CL E G H742812687ORPHA:892Von Hippel-Lindau disease490
HP:0100742HP:0001028Hemangioma1VHL CL E G H742812687OMIM:193300Von hippel-lindau syndrome490
HP:0100742HP:0001028Hemangioma1WASHC5 CL E G H989728984ORPHA:73C syndrome83
HP:0100742HP:0001028Hemangioma1WNT5A CL E G H747412784ORPHA:3107Autosomal dominant Robinow syndrome98
HP:0100742HP:0001028Hemangioma1ZIC2 CL E G H754612873ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional34
HP:0100742HP:0410272Vulvar hemangioma2 CL E G H
HP:0100742HP:0410264Subglottic hemangioma2 CL E G H
HP:0100742HP:0410271Laryngeal hemangioma2 CL E G H
HP:0100742HP:0032060Epithelioid hemangioma2 CL E G H
HP:0100742HP:0410270Esophageal hemangioma2 CL E G H
HP:0100742HP:0410287Intrathoracic hemangioma2 CL E G H
HP:0100742HP:0031449Perineal hemangioma2 CL E G H
HP:0100742HP:0410269Labial hemangioma2 CL E G H
HP:0100742HP:0410275Lumbosacral hemangioma2 CL E G H
HP:0100742HP:0031357Glomeruloid hemangioma2 CL E G H
HP:0100742HP:0410268Spleen hemangioma2 CL E G H
HP:0100742HP:0410274Paraspinal hemangioma2 CL E G H
HP:0100742HP:0012329Tufted angioma2 CL E G H
HP:0100742HP:0410273Retropharyngeal hemangioma2 CL E G H
HP:0100742HP:0410265Supraglottic hemangioma2 CL E G H
HP:0100742HP:0007461Hemangiomatosis2ACVRL1 CL E G H94175ORPHA:774Hereditary hemorrhagic telangiectasia178
HP:0100742HP:0001048Cavernous hemangioma2ACVRL1 CL E G H94175ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040282 - Frequent178
HP:0100742HP:0001048Cavernous hemangioma2AKT1 CL E G H207391ORPHA:201Cowden syndromeHP:0040282 - Frequent54
HP:0100742HP:0007461Hemangiomatosis2AKT1 CL E G H207391ORPHA:744Proteus syndrome54
HP:0100742HP:0005306Capillary hemangioma2AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040281 - Very frequent54
HP:0100742HP:0005306Capillary hemangioma2ANTXR1 CL E G H8416821014OMIM:602089Hemangioma, capillary infantile.8
HP:0100742HP:0005306Capillary hemangioma2ARL6IP6 CL E G H15118824048ORPHA:1556Cutis marmorata telangiectatica congenitaHP:0040283 - Occasional1
HP:0100742HP:0000329Facial hemangioma2ASXL1 CL E G H17102318318OMIM:605039Bohring-Opitz syndrome.145
HP:0100742HP:0001048Cavernous hemangioma2ATP2B1 CL E G H490814OMIM:619910
HP:0100742HP:0005306Capillary hemangioma2ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndromeHP:0040283 - Occasional5
HP:0100742HP:0001048Cavernous hemangioma2BIN1 CL E G H2741052ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040283 - Occasional99
HP:0100742HP:0001048Cavernous hemangioma2BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent276
HP:0100742HP:0001048Cavernous hemangioma2BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1.276
HP:0100742HP:0000329Facial hemangioma2CCDC22 CL E G H2895228909ORPHA:73C syndromeHP:0040283 - Occasional33
HP:0100742HP:0001048Cavernous hemangioma2CCM2 CL E G H8360521708OMIM:603284Cerebral cavernous malformations-237
HP:0100742HP:0007872Choroidal hemangioma2CCM2 CL E G H8360521708ORPHA:221061Familial cerebral cavernous malformationHP:0040283 - Occasional37
HP:0100742HP:0009711Retinal capillary hemangioma2CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau diseaseHP:0040282 - Frequent1
HP:0100742HP:0410266Visceral hemangioma2CCND1 CL E G H5951582OMIM:193300Von hippel-lindau syndrome1
HP:0100742HP:0005306Capillary hemangioma2CCND1 CL E G H5951582OMIM:193300Von hippel-lindau syndrome1
HP:0100742HP:0007461Hemangiomatosis2CCND1 CL E G H5951582OMIM:193300Von hippel-lindau syndrome1
HP:0100742HP:0009711Retinal capillary hemangioma2CCND1 CL E G H5951582OMIM:193300Von hippel-lindau syndrome.1
HP:0100742HP:0000329Facial hemangioma2CD96 CL E G H1022516892ORPHA:1308C syndrome83
HP:0100742HP:0005306Capillary hemangioma2CD96 CL E G H1022516892ORPHA:1308C syndrome83
HP:0100742HP:0005306Capillary hemangioma2CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0100742HP:0410266Visceral hemangioma2CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0100742HP:0005306Capillary hemangioma2DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndrome159
HP:0100742HP:0005306Capillary hemangioma2DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0100742HP:0000329Facial hemangioma2DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndrome159
HP:0100742HP:0000329Facial hemangioma2DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0100742HP:0005306Capillary hemangioma2DIS3L2 CL E G H12956328648ORPHA:2849Perlman syndromeHP:0040283 - Occasional164
HP:0100742HP:0009711Retinal capillary hemangioma2DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional
HP:0100742HP:0012222Arachnoid hemangiomatosis2DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional
HP:0100742HP:0001048Cavernous hemangioma2DNM2 CL E G H17852974ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040283 - Occasional167
HP:0100742HP:0005306Capillary hemangioma2DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional14
HP:0100742HP:0005306Capillary hemangioma2DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional5
HP:0100742HP:0005306Capillary hemangioma2EIF2AK4 CL E G H44027519687ORPHA:199241Pulmonary capillary hemangiomatosis40
HP:0100742HP:0007461Hemangiomatosis2EIF2AK4 CL E G H44027519687ORPHA:199241Pulmonary capillary hemangiomatosis40
HP:0100742HP:0007461Hemangiomatosis2EIF2AK4 CL E G H44027519687OMIM:234810PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD240
HP:0100742HP:0005306Capillary hemangioma2EIF2AK4 CL E G H44027519687OMIM:234810PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD240
HP:0100742HP:0001048Cavernous hemangioma2ENG CL E G H20223349ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040282 - Frequent186
HP:0100742HP:0007461Hemangiomatosis2ENG CL E G H20223349ORPHA:774Hereditary hemorrhagic telangiectasia186
HP:0100742HP:0005306Capillary hemangioma2EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0100742HP:0410266Visceral hemangioma2EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0100742HP:0000329Facial hemangioma2EPHB4 CL E G H20503395ORPHA:137667Capillary malformation-arteriovenous malformation3
HP:0100742HP:0005306Capillary hemangioma2EPHB4 CL E G H20503395ORPHA:137667Capillary malformation-arteriovenous malformation3
HP:0100742HP:0005306Capillary hemangioma2ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome92
HP:0100742HP:0000329Facial hemangioma2ESCO2 CL E G H15757027230ORPHA:3103Roberts syndrome92
HP:0100742HP:0005306Capillary hemangioma2ESCO2 CL E G H15757027230ORPHA:3103Roberts syndrome92
HP:0100742HP:0000329Facial hemangioma2ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome92
HP:0100742HP:0005306Capillary hemangioma2EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndromeHP:0040283 - Occasional3
HP:0100742HP:0005306Capillary hemangioma2FGFR1 CL E G H22603688ORPHA:2396Encephalocraniocutaneous lipomatosisHP:0040282 - Frequent172
HP:0100742HP:0007461Hemangiomatosis2FGFR1 CL E G H22603688ORPHA:2396Encephalocraniocutaneous lipomatosis172
HP:0100742HP:0007461Hemangiomatosis2FGFR2 CL E G H22633689ORPHA:1555Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome175
HP:0100742HP:0012222Arachnoid hemangiomatosis2FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional301
HP:0100742HP:0009711Retinal capillary hemangioma2FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional301
HP:0100742HP:0005306Capillary hemangioma2FLT4 CL E G H23243767OMIM:602089Hemangioma, capillary infantile.90
HP:0100742HP:0005306Capillary hemangioma2FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional
HP:0100742HP:0001048Cavernous hemangioma2GDF2 CL E G H26584217ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040282 - Frequent8
HP:0100742HP:0007461Hemangiomatosis2GDF2 CL E G H26584217ORPHA:774Hereditary hemorrhagic telangiectasia8
HP:0100742HP:0005306Capillary hemangioma2GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndrome270
HP:0100742HP:0005306Capillary hemangioma2GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndrome270
HP:0100742HP:0000329Facial hemangioma2GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndrome270
HP:0100742HP:0000329Facial hemangioma2GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndrome270
HP:0100742HP:0005306Capillary hemangioma2GNA11 CL E G H27674379ORPHA:1556Cutis marmorata telangiectatica congenitaHP:0040283 - Occasional16
HP:0100742HP:0000329Facial hemangioma2GNA14 CL E G H96304382ORPHA:1063Tufted angiomaHP:0040283 - Occasional
HP:0100742HP:0031490Hemangioma of the lip2GNA14 CL E G H96304382ORPHA:1063Tufted angiomaHP:0040283 - Occasional
HP:0100742HP:0012222Arachnoid hemangiomatosis2GNAQ CL E G H27764390OMIM:185300Sturge-Weber syndrome.7
HP:0100742HP:0000329Facial hemangioma2GNAQ CL E G H27764390OMIM:185300Sturge-Weber syndrome.7
HP:0100742HP:0007461Hemangiomatosis2GNAQ CL E G H27764390ORPHA:3205Sturge-Weber syndrome7
HP:0100742HP:0007872Choroidal hemangioma2GNAQ CL E G H27764390OMIM:185300Sturge-Weber syndrome.7
HP:0100742HP:0005306Capillary hemangioma2GNAQ CL E G H27764390ORPHA:3205Sturge-Weber syndromeHP:0040281 - Very frequent7
HP:0100742HP:0001048Cavernous hemangioma2GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta.240
HP:0100742HP:0001048Cavernous hemangioma2HOXD13 CL E G H32395136ORPHA:887VACTERL/VATER associationHP:0040283 - Occasional25
HP:0100742HP:0001048Cavernous hemangioma2HRAS CL E G H32655173ORPHA:2612Linear nevus sebaceus syndromeHP:0040281 - Very frequent113
HP:0100742HP:0005306Capillary hemangioma2HS2ST1 CL E G H96535193OMIM:619194NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0100742HP:0007461Hemangiomatosis2IDH1 CL E G H34175382ORPHA:163634Maffucci syndromeHP:0040281 - Very frequent15
HP:0100742HP:0001048Cavernous hemangioma2IDH1 CL E G H34175382ORPHA:99646Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria15
HP:0100742HP:0007461Hemangiomatosis2IDH1 CL E G H34175382ORPHA:296Ollier disease15
HP:0100742HP:0007461Hemangiomatosis2IDH2 CL E G H34185383ORPHA:163634Maffucci syndromeHP:0040281 - Very frequent29
HP:0100742HP:0007461Hemangiomatosis2IDH2 CL E G H34185383ORPHA:296Ollier disease29
HP:0100742HP:0012798Pulmonary lymphangiomyomatosis2IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent23
HP:0100742HP:0012798Pulmonary lymphangiomyomatosis2IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-223
HP:0100742HP:0005306Capillary hemangioma2KDR CL E G H37916307OMIM:602089Hemangioma, capillary infantile.40
HP:0100742HP:0009711Retinal capillary hemangioma2KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional202
HP:0100742HP:0012222Arachnoid hemangiomatosis2KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional202
HP:0100742HP:0001048Cavernous hemangioma2KLLN CL E G H10014474837212ORPHA:201Cowden syndromeHP:0040282 - Frequent1
HP:0100742HP:0001048Cavernous hemangioma2KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent196
HP:0100742HP:0005306Capillary hemangioma2KRAS CL E G H38456407ORPHA:2396Encephalocraniocutaneous lipomatosisHP:0040282 - Frequent196
HP:0100742HP:0007461Hemangiomatosis2KRAS CL E G H38456407ORPHA:2396Encephalocraniocutaneous lipomatosis196
HP:0100742HP:0001048Cavernous hemangioma2KRAS CL E G H38456407ORPHA:2612Linear nevus sebaceus syndromeHP:0040281 - Very frequent196
HP:0100742HP:0001048Cavernous hemangioma2KRIT1 CL E G H8891573OMIM:116860Cerebral cavernous malformations 192
HP:0100742HP:0007872Choroidal hemangioma2KRIT1 CL E G H8891573ORPHA:221061Familial cerebral cavernous malformationHP:0040283 - Occasional92
HP:0100742HP:0001048Cavernous hemangioma2MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent134
HP:0100742HP:0001048Cavernous hemangioma2MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent178
HP:0100742HP:0009711Retinal capillary hemangioma2MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional84
HP:0100742HP:0012222Arachnoid hemangiomatosis2MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional84
HP:0100742HP:0009711Retinal capillary hemangioma2MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional4
HP:0100742HP:0012222Arachnoid hemangiomatosis2MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional4
HP:0100742HP:0000329Facial hemangioma2MGAT2 CL E G H42477045OMIM:212066Congenital disorder of glycosylation, type IIa39
HP:0100742HP:0005306Capillary hemangioma2MGAT2 CL E G H42477045OMIM:212066Congenital disorder of glycosylation, type IIa39
HP:0100742HP:0001048Cavernous hemangioma2MTMR14 CL E G H6441926190ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040283 - Occasional7
HP:0100742HP:0001048Cavernous hemangioma2MYF6 CL E G H46187566ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040283 - Occasional19
HP:0100742HP:0009711Retinal capillary hemangioma2NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional1952
HP:0100742HP:0012222Arachnoid hemangiomatosis2NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional1952
HP:0100742HP:0001048Cavernous hemangioma2NOTCH1 CL E G H48517881OMIM:616028Adams-Oliver syndrome 5.452
HP:0100742HP:0001048Cavernous hemangioma2NRAS CL E G H48937989ORPHA:2612Linear nevus sebaceus syndromeHP:0040281 - Very frequent102
HP:0100742HP:0000329Facial hemangioma2OFD1 CL E G H84812567OMIM:300209Simpson-golabi-behmel syndrome, type 2201
HP:0100742HP:0005306Capillary hemangioma2OFD1 CL E G H84812567OMIM:300209Simpson-golabi-behmel syndrome, type 2201
HP:0100742HP:0001048Cavernous hemangioma2PDCD10 CL E G H112358761OMIM:603285Cerebral cavernous malformations 321
HP:0100742HP:0007872Choroidal hemangioma2PDCD10 CL E G H112358761ORPHA:221061Familial cerebral cavernous malformationHP:0040283 - Occasional21
HP:0100742HP:0001048Cavernous hemangioma2PIK3CA CL E G H52908975OMIM:619538CEREBRAL CAVERNOUS MALFORMATIONS 4; CCM4162
HP:0100742HP:0001048Cavernous hemangioma2PIK3CA CL E G H52908975ORPHA:201Cowden syndromeHP:0040282 - Frequent162
HP:0100742HP:0007461Hemangiomatosis2PIK3CA CL E G H52908975ORPHA:60040Megalencephaly-capillary malformation-polymicrogyria syndrome162
HP:0100742HP:0000329Facial hemangioma2POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency76
HP:0100742HP:0005306Capillary hemangioma2POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency76
HP:0100742HP:0000329Facial hemangioma2PPP1CB CL E G H55009282OMIM:617506Noonan syndrome-like disorder with loose anagen hair 29
HP:0100742HP:0007461Hemangiomatosis2PTEN CL E G H57289588ORPHA:109Bannayan-Riley-Ruvalcaba syndrome948
HP:0100742HP:0005306Capillary hemangioma2PTEN CL E G H57289588ORPHA:109Bannayan-Riley-Ruvalcaba syndromeHP:0040281 - Very frequent948
HP:0100742HP:0001048Cavernous hemangioma2PTEN CL E G H57289588ORPHA:201Cowden syndromeHP:0040282 - Frequent948
HP:0100742HP:0007461Hemangiomatosis2PTEN CL E G H57289588ORPHA:744Proteus syndrome948
HP:0100742HP:0005306Capillary hemangioma2PTEN CL E G H57289588ORPHA:744Proteus syndromeHP:0040281 - Very frequent948
HP:0100742HP:0007461Hemangiomatosis2PTEN CL E G H57289588ORPHA:137608Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome948
HP:0100742HP:0007461Hemangiomatosis2PTH1R CL E G H57459608ORPHA:296Ollier disease58
HP:0100742HP:0005306Capillary hemangioma2PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndromeHP:0040283 - Occasional19
HP:0100742HP:0005306Capillary hemangioma2RASA1 CL E G H59219871ORPHA:137667Capillary malformation-arteriovenous malformation88
HP:0100742HP:0000329Facial hemangioma2RASA1 CL E G H59219871ORPHA:137667Capillary malformation-arteriovenous malformation88
HP:0100742HP:0005306Capillary hemangioma2RASA1 CL E G H59219871OMIM:608354CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1; CMAVM188
HP:0100742HP:0007461Hemangiomatosis2RASA1 CL E G H59219871ORPHA:90307Parkes Weber syndromeHP:0040284 - Very rare88
HP:0100742HP:0000329Facial hemangioma2RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0100742HP:0005306Capillary hemangioma2RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0100742HP:0005306Capillary hemangioma2RECQL4 CL E G H94019949OMIM:218600Baller-Gerold syndrome445
HP:0100742HP:0000329Facial hemangioma2RECQL4 CL E G H94019949OMIM:218600Baller-Gerold syndrome445
HP:0100742HP:0009711Retinal capillary hemangioma2RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional572
HP:0100742HP:0012222Arachnoid hemangiomatosis2RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional572
HP:0100742HP:0001076Glabellar hemangioma2RRAS2 CL E G H2280017271OMIM:618624NOONAN SYNDROME 12; NS121
HP:0100742HP:0001048Cavernous hemangioma2RYR1 CL E G H626110483ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040283 - Occasional1200
HP:0100742HP:0009711Retinal capillary hemangioma2SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional304
HP:0100742HP:0012222Arachnoid hemangiomatosis2SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional304
HP:0100742HP:0009711Retinal capillary hemangioma2SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional55
HP:0100742HP:0012222Arachnoid hemangiomatosis2SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional55
HP:0100742HP:0001048Cavernous hemangioma2SDHB CL E G H639010681ORPHA:201Cowden syndromeHP:0040282 - Frequent237
HP:0100742HP:0012222Arachnoid hemangiomatosis2SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional237
HP:0100742HP:0009711Retinal capillary hemangioma2SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional237
HP:0100742HP:0001048Cavernous hemangioma2SDHC CL E G H639110682ORPHA:201Cowden syndromeHP:0040282 - Frequent147
HP:0100742HP:0009711Retinal capillary hemangioma2SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional147
HP:0100742HP:0012222Arachnoid hemangiomatosis2SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional147
HP:0100742HP:0001048Cavernous hemangioma2SDHD CL E G H639210683ORPHA:201Cowden syndromeHP:0040282 - Frequent129
HP:0100742HP:0012222Arachnoid hemangiomatosis2SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional129
HP:0100742HP:0009711Retinal capillary hemangioma2SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional129
HP:0100742HP:0005306Capillary hemangioma2SEC23A CL E G H1048410701OMIM:607812Craniolenticulosutural dysplasia.2
HP:0100742HP:0005306Capillary hemangioma2SEC23A CL E G H1048410701ORPHA:50814Craniolenticulosutural dysplasiaHP:0040282 - Frequent2
HP:0100742HP:0001048Cavernous hemangioma2SEC23B CL E G H1048310702ORPHA:201Cowden syndromeHP:0040282 - Frequent60
HP:0100742HP:0000329Facial hemangioma2SETBP1 CL E G H2604015573OMIM:269150Schinzel-Giedion midface-retraction syndrome.143
HP:0100742HP:0000329Facial hemangioma2SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndromeHP:0040282 - Frequent143
HP:0100742HP:0009711Retinal capillary hemangioma2SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional
HP:0100742HP:0012222Arachnoid hemangiomatosis2SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional
HP:0100742HP:0000329Facial hemangioma2SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type II166
HP:0100742HP:0001076Glabellar hemangioma2SLC26A2 CL E G H183610994OMIM:222600Diastrophic dysplasia.166
HP:0100742HP:0007461Hemangiomatosis2SLC26A2 CL E G H183610994ORPHA:628Diastrophic dysplasia166
HP:0100742HP:0007461Hemangiomatosis2SMAD4 CL E G H40896770ORPHA:774Hereditary hemorrhagic telangiectasia504
HP:0100742HP:0001048Cavernous hemangioma2SMAD4 CL E G H40896770ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040282 - Frequent504
HP:0100742HP:0005306Capillary hemangioma2SRD5A3 CL E G H7964425812OMIM:612713Kahrizi syndrome.80
HP:0100742HP:0000329Facial hemangioma2STAC3 CL E G H24632928423ORPHA:168572Native American myopathyHP:0040284 - Very rare14
HP:0100742HP:0005306Capillary hemangioma2TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndromeHP:0040283 - Occasional271
HP:0100742HP:0001076Glabellar hemangioma2TBX2 CL E G H690911597OMIM:618223VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION.
HP:0100742HP:0007461Hemangiomatosis2TEK CL E G H701011724ORPHA:1059Blue rubber bleb nevus78
HP:0100742HP:0001048Cavernous hemangioma2TEK CL E G H701011724ORPHA:1059Blue rubber bleb nevusHP:0040281 - Very frequent78
HP:0100742HP:0009711Retinal capillary hemangioma2TMEM127 CL E G H5565426038ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional131
HP:0100742HP:0012222Arachnoid hemangiomatosis2TMEM127 CL E G H5565426038ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional131
HP:0100742HP:0012798Pulmonary lymphangiomyomatosis2TSC1 CL E G H724812362ORPHA:538LymphangioleiomyomatosisHP:0040282 - Frequent1090
HP:0100742HP:0012798Pulmonary lymphangiomyomatosis2TSC1 CL E G H724812362OMIM:606690LYMPHANGIOLEIOMYOMATOSIS.1090
HP:0100742HP:0012798Pulmonary lymphangiomyomatosis2TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent1090
HP:0100742HP:0012798Pulmonary lymphangiomyomatosis2TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-11090
HP:0100742HP:0012798Pulmonary lymphangiomyomatosis2TSC2 CL E G H724912363OMIM:606690LYMPHANGIOLEIOMYOMATOSIS.2738
HP:0100742HP:0012798Pulmonary lymphangiomyomatosis2TSC2 CL E G H724912363ORPHA:538LymphangioleiomyomatosisHP:0040282 - Frequent2738
HP:0100742HP:0012798Pulmonary lymphangiomyomatosis2TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent2738
HP:0100742HP:0012798Pulmonary lymphangiomyomatosis2TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-22738
HP:0100742HP:0001048Cavernous hemangioma2USF3 CL E G H20571730494ORPHA:201Cowden syndromeHP:0040282 - Frequent1
HP:0100742HP:0012222Arachnoid hemangiomatosis2VHL CL E G H742812687ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional490
HP:0100742HP:0009711Retinal capillary hemangioma2VHL CL E G H742812687ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional490
HP:0100742HP:0009711Retinal capillary hemangioma2VHL CL E G H742812687ORPHA:892Von Hippel-Lindau diseaseHP:0040282 - Frequent490
HP:0100742HP:0007461Hemangiomatosis2VHL CL E G H742812687OMIM:193300Von hippel-lindau syndrome490
HP:0100742HP:0410266Visceral hemangioma2VHL CL E G H742812687OMIM:193300Von hippel-lindau syndrome490
HP:0100742HP:0005306Capillary hemangioma2VHL CL E G H742812687OMIM:193300Von hippel-lindau syndrome490
HP:0100742HP:0009711Retinal capillary hemangioma2VHL CL E G H742812687OMIM:193300Von hippel-lindau syndrome.490
HP:0100742HP:0000329Facial hemangioma2WASHC5 CL E G H989728984ORPHA:73C syndromeHP:0040283 - Occasional83
HP:0100742HP:0005306Capillary hemangioma2WNT5A CL E G H747412784ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional98
HP:0100742HP:0007434Plaque-like facial hemangioma3 CL E G H
HP:0100742HP:0500090Periocular capillary hemangioma3 CL E G H
HP:0100742HP:0410267Intestinal hemangioma3 CL E G H
HP:0100742HP:0011673Cardiac hemangioma3 CL E G H
HP:0100742HP:0100761Visceral angiomatosis3ACVRL1 CL E G H94175ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040282 - Frequent178
HP:0100742HP:0100761Visceral angiomatosis3AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040282 - Frequent54
HP:0100742HP:0033522Cerebral cavernous malformation3ATP2B1 CL E G H490814OMIM:619910
HP:0100742HP:0033522Cerebral cavernous malformation3CCM2 CL E G H8360521708OMIM:603284Cerebral cavernous malformations-237
HP:0100742HP:0031207Hepatic hemangioma3CCND1 CL E G H5951582OMIM:193300Von hippel-lindau syndrome1
HP:0100742HP:0005954Pulmonary capillary hemangiomatosis3CCND1 CL E G H5951582OMIM:193300Von hippel-lindau syndrome.1
HP:0100742HP:0000996Facial capillary hemangioma3CD96 CL E G H1022516892ORPHA:1308C syndrome83
HP:0100742HP:0031207Hepatic hemangioma3CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0100742HP:0000996Facial capillary hemangioma3DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndromeHP:0040282 - Frequent159
HP:0100742HP:0000996Facial capillary hemangioma3DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome.159
HP:0100742HP:0005954Pulmonary capillary hemangiomatosis3EIF2AK4 CL E G H44027519687ORPHA:199241Pulmonary capillary hemangiomatosisHP:0040281 - Very frequent40
HP:0100742HP:0005954Pulmonary capillary hemangiomatosis3EIF2AK4 CL E G H44027519687OMIM:234810PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD240
HP:0100742HP:0100761Visceral angiomatosis3ENG CL E G H20223349ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040282 - Frequent186
HP:0100742HP:0031207Hepatic hemangioma3EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0100742HP:0000996Facial capillary hemangioma3EPHB4 CL E G H20503395ORPHA:137667Capillary malformation-arteriovenous malformationHP:0040284 - Very rare3
HP:0100742HP:0000996Facial capillary hemangioma3ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome92
HP:0100742HP:0000996Facial capillary hemangioma3ESCO2 CL E G H15757027230ORPHA:3103Roberts syndrome92
HP:0100742HP:0100761Visceral angiomatosis3FGFR1 CL E G H22603688ORPHA:2396Encephalocraniocutaneous lipomatosisHP:0040282 - Frequent172
HP:0100742HP:0100761Visceral angiomatosis3FGFR2 CL E G H22633689ORPHA:1555Cutis gyrata-acanthosis nigricans-craniosynostosis syndromeHP:0040281 - Very frequent175
HP:0100742HP:0100761Visceral angiomatosis3GDF2 CL E G H26584217ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040282 - Frequent8
HP:0100742HP:0000996Facial capillary hemangioma3GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndrome270
HP:0100742HP:0000996Facial capillary hemangioma3GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndrome270
HP:0100742HP:0100761Visceral angiomatosis3GNAQ CL E G H27764390ORPHA:3205Sturge-Weber syndromeHP:0040283 - Occasional7
HP:0100742HP:0007486Cavernous hemangioma of the face3IDH1 CL E G H34175382ORPHA:99646Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria15
HP:0100742HP:0100761Visceral angiomatosis3IDH1 CL E G H34175382ORPHA:296Ollier diseaseHP:0040281 - Very frequent15
HP:0100742HP:0100761Visceral angiomatosis3IDH2 CL E G H34185383ORPHA:296Ollier diseaseHP:0040281 - Very frequent29
HP:0100742HP:0100761Visceral angiomatosis3KRAS CL E G H38456407ORPHA:2396Encephalocraniocutaneous lipomatosisHP:0040282 - Frequent196
HP:0100742HP:0033522Cerebral cavernous malformation3KRIT1 CL E G H8891573OMIM:116860Cerebral cavernous malformations 192
HP:0100742HP:0000996Facial capillary hemangioma3MGAT2 CL E G H42477045OMIM:212066Congenital disorder of glycosylation, type IIa39
HP:0100742HP:0000996Facial capillary hemangioma3OFD1 CL E G H84812567OMIM:300209Simpson-golabi-behmel syndrome, type 2.201
HP:0100742HP:0033522Cerebral cavernous malformation3PDCD10 CL E G H112358761OMIM:603285Cerebral cavernous malformations 321
HP:0100742HP:0033522Cerebral cavernous malformation3PIK3CA CL E G H52908975OMIM:619538CEREBRAL CAVERNOUS MALFORMATIONS 4; CCM4162
HP:0100742HP:0100761Visceral angiomatosis3PIK3CA CL E G H52908975ORPHA:60040Megalencephaly-capillary malformation-polymicrogyria syndromeHP:0040281 - Very frequent162
HP:0100742HP:0000996Facial capillary hemangioma3POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency76
HP:0100742HP:0100761Visceral angiomatosis3PTEN CL E G H57289588ORPHA:109Bannayan-Riley-Ruvalcaba syndromeHP:0040281 - Very frequent948
HP:0100742HP:0100761Visceral angiomatosis3PTEN CL E G H57289588ORPHA:744Proteus syndromeHP:0040282 - Frequent948
HP:0100742HP:0100761Visceral angiomatosis3PTEN CL E G H57289588ORPHA:137608Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndromeHP:0040281 - Very frequent948
HP:0100742HP:0100761Visceral angiomatosis3PTH1R CL E G H57459608ORPHA:296Ollier diseaseHP:0040281 - Very frequent58
HP:0100742HP:0000996Facial capillary hemangioma3RASA1 CL E G H59219871ORPHA:137667Capillary malformation-arteriovenous malformationHP:0040284 - Very rare88
HP:0100742HP:0000996Facial capillary hemangioma3RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0100742HP:0000996Facial capillary hemangioma3RECQL4 CL E G H94019949OMIM:218600Baller-Gerold syndrome445
HP:0100742HP:0004664Facial midline hemangioma3SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type IIHP:0040283 - Occasional166
HP:0100742HP:0100761Visceral angiomatosis3SLC26A2 CL E G H183610994ORPHA:628Diastrophic dysplasiaHP:0040283 - Occasional166
HP:0100742HP:0100761Visceral angiomatosis3SMAD4 CL E G H40896770ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040282 - Frequent504
HP:0100742HP:0100761Visceral angiomatosis3TEK CL E G H701011724ORPHA:1059Blue rubber bleb nevusHP:0040281 - Very frequent78
HP:0100742HP:0031207Hepatic hemangioma3VHL CL E G H742812687OMIM:193300Von hippel-lindau syndrome490
HP:0100742HP:0005954Pulmonary capillary hemangiomatosis3VHL CL E G H742812687OMIM:193300Von hippel-lindau syndrome.490
HP:0100742HP:0007601Midline facial capillary hemangioma4CD96 CL E G H1022516892ORPHA:1308C syndromeHP:0040282 - Frequent83
HP:0100742HP:0007452Midface capillary hemangioma4ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome.92
HP:0100742HP:0007452Midface capillary hemangioma4ESCO2 CL E G H15757027230ORPHA:3103Roberts syndromeHP:0040282 - Frequent92
HP:0100742HP:0007601Midline facial capillary hemangioma4GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndromeHP:0040284 - Very rare270
HP:0100742HP:0007601Midline facial capillary hemangioma4GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndromeHP:0040283 - Occasional270
HP:0100742HP:0007466Midfrontal capillary hemangioma4MGAT2 CL E G H42477045OMIM:212066Congenital disorder of glycosylation, type IIa.39
HP:0100742HP:0007466Midfrontal capillary hemangioma4POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyHP:0040284 - Very rare76
HP:0100742HP:0007452Midface capillary hemangioma4RECQL4 CL E G H94019949OMIM:218600Baller-Gerold syndrome.445


Genes (147) :ACVRL1 AGGF1 AKT1 ANTXR1 APC2 ARID1B ARL6IP6 ASXL1 ATP2B1 ATP6V1B2 BIN1 BMPR1A BRAF CALR CCDC22 CCM2 CCND1 CD96 CDON CLPB CPLX1 CREBBP CTBP1 CTSA CYP26C1 DHCR7 DIS3L2 DISP1 DLL1 DLST DNM2 DPM1 DVL1 DVL3 EIF2AK4 ELANE ENG EP300 EPHB4 ESCO2 EXTL3 FBXO28 FGF8 FGFR1 FGFR2 FGFRL1 FH FLT4 FOXH1 FZD2 GAS1 GDF2 GFI1 GLI2 GLI3 GNA11 GNA14 GNAQ GNPTAB GPC6 H4C5 HOXD13 HRAS HS2ST1 IDH1 IDH2 IFNG JAK2 KANSL1 KDM6B KDR KIF1B KLLN KRAS KRIT1 LEMD3 LETM1 MAP2K1 MAP2K2 MAX MDH2 MGAT2 MPL MSL3 MTMR14 MTOR MYF6 NDP NELFA NF1 NODAL NOTCH1 NRAS NSD1 NSD2 OFD1 PDCD10 PIGG PIK3CA POR PPP1CB PTCH1 PTEN PTH1R PUF60 RASA1 RBM8A RECQL4 RET RRAS2 RYR1 SDHA SDHAF2 SDHB SDHC SDHD SEC23A SEC23B SETBP1 SETD2 SHH SHOC2 SIX3 SLC25A11 SLC26A2 SMAD4 SPEN SRD5A3 SRP54 STAC3 SUFU TBC1D24 TBX2 TCIRG1 TDGF1 TEK TET2 TFAP2A TGIF1 TMEM127 TSC1 TSC2 USF3 VHL WASHC5 WNT5A ZIC2

Diseases (112) :ORPHA:774 ORPHA:90308 ORPHA:201 ORPHA:744 OMIM:176920 ORPHA:2067 OMIM:602089 ORPHA:821 OMIM:135900 ORPHA:1556 OMIM:605039 OMIM:619910 ORPHA:79500 ORPHA:169189 ORPHA:79076 ORPHA:1340 OMIM:115150 ORPHA:824 ORPHA:7 OMIM:603284 ORPHA:221061 ORPHA:892 OMIM:193300 ORPHA:1308 ORPHA:280200 ORPHA:486 OMIM:194190 ORPHA:280 OMIM:180849 OMIM:256540 ORPHA:398189 OMIM:270400 ORPHA:818 ORPHA:2849 ORPHA:29072 OMIM:608799 ORPHA:3107 ORPHA:199241 OMIM:234810 ORPHA:137667 OMIM:268300 ORPHA:3103 ORPHA:508533 OMIM:619777 ORPHA:2396 ORPHA:1555 OMIM:153100 OMIM:146510 ORPHA:672 ORPHA:1063 ORPHA:3205 OMIM:185300 OMIM:252500 OMIM:258315 OMIM:619950 ORPHA:887 ORPHA:2612 ORPHA:2874 OMIM:163200 OMIM:619194 ORPHA:163634 ORPHA:99646 ORPHA:296 ORPHA:805 OMIM:613254 ORPHA:363958 ORPHA:363965 OMIM:618505 OMIM:171300 OMIM:116860 ORPHA:1306 OMIM:615280 OMIM:212066 OMIM:301032 ORPHA:457485 ORPHA:649 ORPHA:363700 OMIM:616028 OMIM:300209 OMIM:603285 OMIM:619538 ORPHA:60040 ORPHA:95699 OMIM:617506 ORPHA:109 ORPHA:2969 ORPHA:137608 ORPHA:508488 OMIM:608354 ORPHA:90307 OMIM:274000 OMIM:218600 OMIM:618624 OMIM:607812 ORPHA:50814 OMIM:616858 OMIM:269150 ORPHA:798 OMIM:607721 ORPHA:56304 ORPHA:628 OMIM:222600 OMIM:619312 OMIM:612713 ORPHA:168572 OMIM:618223 ORPHA:1059 ORPHA:1297 ORPHA:538 OMIM:606690 OMIM:191100 OMIM:263400
 

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