Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the vasculature (HP:0002597)help
Grandparent Node:
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Generalized abnormality of skin (HP:0011354)help
Parent Node:
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Abnormal bleeding (HP:0001892)help
Parent Node:
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Vascular skin abnormality (HP:0011276)help
..Starting node
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Subcutaneous hemorrhage (HP:0001933)help
Term ID: 1933
Name: Subcutaneous hemorrhage
Synonym: Bleeding below the skin; Subcutaneous haemorrhage
Definition: This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses).
Comments:
Reference: HP:0001933
Genes and Diseases:
 
       Child Nodes:
........expandBruising susceptibility (HP:0000978) help
........expandPurpura (HP:0000979) help
................... HP:0031363 Palpable purpura
................... HP:0031365 Macular purpura
........expandSpontaneous hematomas (HP:0007420) help

 Sister Nodes: 
..expandAngioedema (HP:0100665) help
..expandAngiokeratoma (HP:0001014) help
..expandCutis marmorata (HP:0000965) help
..expandErythema (HP:0010783) help
..expandNon-pruritic urticaria (HP:0011137) help
..expandProminent superficial blood vessels (HP:0007394) help
..expandTelangiectasia (HP:0001009) help
..expandUrticaria (HP:0001025) help
..expandVasculitis in the skin (HP:0200029) 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:0001933HP:0001933Subcutaneous hemorrhage0ABCC6 CL E G H36857ORPHA:758Pseudoxanthoma elasticum415
HP:0001933HP:0001933Subcutaneous hemorrhage0ACP5 CL E G H54124OMIM:607944Spondyloenchondrodysplasia with immune dysregulation16
HP:0001933HP:0001933Subcutaneous hemorrhage0ACTA2 CL E G H59130ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection94
HP:0001933HP:0001933Subcutaneous hemorrhage0ACVRL1 CL E G H94175ORPHA:774Hereditary hemorrhagic telangiectasia178
HP:0001933HP:0001933Subcutaneous hemorrhage0ADA2 CL E G H518161839OMIM:615688Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome22
HP:0001933HP:0001933Subcutaneous hemorrhage0ADAMTS2 CL E G H9509218OMIM:225410Ehlers-Danlos syndrome, type VII, autosomal recessive165
HP:0001933HP:0001933Subcutaneous hemorrhage0AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2
HP:0001933HP:0001933Subcutaneous hemorrhage0AEBP1 CL E G H165303OMIM:618000Ehlers-Danlos syndrome, classic-like, 2
HP:0001933HP:0001933Subcutaneous hemorrhage0AIP CL E G H9049358OMIM:219090Pituitary adenoma 4, ACTH-secreting, somatic95
HP:0001933HP:0001933Subcutaneous hemorrhage0ANKRD26 CL E G H2285229186OMIM:188000THROMBOCYTOPENIA 2; THC2106
HP:0001933HP:0001933Subcutaneous hemorrhage0APOE CL E G H348613ORPHA:158029Sea-blue histiocytosis39
HP:0001933HP:0001933Subcutaneous hemorrhage0ARL6IP6 CL E G H15118824048ORPHA:1556Cutis marmorata telangiectatica congenitaHP:0040281 - Very frequent1
HP:0001933HP:0001933Subcutaneous hemorrhage0ARMC5 CL E G H7979825781ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasia7
HP:0001933HP:0001933Subcutaneous hemorrhage0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndrome1
HP:0001933HP:0001933Subcutaneous hemorrhage0ATP7A CL E G H538869ORPHA:565Menkes disease192
HP:0001933HP:0001933Subcutaneous hemorrhage0ATP7A CL E G H538869OMIM:304150Occipital horn syndrome192
HP:0001933HP:0001933Subcutaneous hemorrhage0ATP7A CL E G H538869ORPHA:198Occipital horn syndrome192
HP:0001933HP:0001933Subcutaneous hemorrhage0ATP7B CL E G H540870ORPHA:905Wilson disease315
HP:0001933HP:0001933Subcutaneous hemorrhage0ATRX CL E G H546886ORPHA:231401Alpha-thalassemia-myelodysplastic syndrome169
HP:0001933HP:0001933Subcutaneous hemorrhage0ATRX CL E G H546886ORPHA:96253Cushing disease169
HP:0001933HP:0001933Subcutaneous hemorrhage0B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome38
HP:0001933HP:0001933Subcutaneous hemorrhage0BCOR CL E G H5488020893ORPHA:520Acute promyelocytic leukemia101
HP:0001933HP:0001933Subcutaneous hemorrhage0BLOC1S3 CL E G H38855220914OMIM:614077Hermansky-Pudlak syndrome 842
HP:0001933HP:0001933Subcutaneous hemorrhage0BLOC1S5 CL E G H6391518561OMIM:619172HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0001933HP:0001933Subcutaneous hemorrhage0BRAF CL E G H6731097ORPHA:96253Cushing disease276
HP:0001933HP:0001933Subcutaneous hemorrhage0BRAF CL E G H6731097OMIM:163950Noonan syndrome 1276
HP:0001933HP:0001933Subcutaneous hemorrhage0C1R CL E G H7151246OMIM:130080Ehlers-Danlos syndrome, periodontal type, 115
HP:0001933HP:0001933Subcutaneous hemorrhage0C1S CL E G H7161247OMIM:617174Ehlers-Danlos syndrome, periodontal type, 27
HP:0001933HP:0001933Subcutaneous hemorrhage0C2 CL E G H7171248OMIM:217000Complement component 2 deficiency23
HP:0001933HP:0001933Subcutaneous hemorrhage0C4A CL E G H7201323OMIM:614380Complement component 4A deficiency1
HP:0001933HP:0001933Subcutaneous hemorrhage0CALR CL E G H8111455OMIM:254450Myelofibrosismyelofibrosis with myeloid metaplasia, included1
HP:0001933HP:0001933Subcutaneous hemorrhage0CALR CL E G H8111455ORPHA:824Primary myelofibrosis1
HP:0001933HP:0001933Subcutaneous hemorrhage0CASP10 CL E G H8431500ORPHA:3261Autoimmune lymphoproliferative syndrome87
HP:0001933HP:0001933Subcutaneous hemorrhage0CASP10 CL E G H8431500OMIM:603909Autoimmune lymphoproliferative syndrome, type IIA87
HP:0001933HP:0001933Subcutaneous hemorrhage0CBS CL E G H8751550ORPHA:394Classic homocystinuriaHP:0040283 - Occasional242
HP:0001933HP:0001933Subcutaneous hemorrhage0CD109 CL E G H13522821685ORPHA:853Fetal and neonatal alloimmune thrombocytopenia
HP:0001933HP:0001933Subcutaneous hemorrhage0CD19 CL E G H9301633ORPHA:1572Common variable immunodeficiency38
HP:0001933HP:0001933Subcutaneous hemorrhage0CD81 CL E G H9751701ORPHA:1572Common variable immunodeficiency1
HP:0001933HP:0001933Subcutaneous hemorrhage0CD81 CL E G H9751701OMIM:613496Immunodeficiency, common variable, 61
HP:0001933HP:0001933Subcutaneous hemorrhage0CDH23 CL E G H6407213733ORPHA:96253Cushing disease636
HP:0001933HP:0001933Subcutaneous hemorrhage0CFH CL E G H30754883OMIM:235400Hemolytic uremic syndrome, atypical, susceptibility to, 186
HP:0001933HP:0001933Subcutaneous hemorrhage0CFHR1 CL E G H30784888OMIM:235400Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0001933HP:0001933Subcutaneous hemorrhage0CFHR3 CL E G H1087816980OMIM:235400Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0001933HP:0001933Subcutaneous hemorrhage0CHST14 CL E G H11318924464OMIM:601776Ehlers-Danlos syndrome, musculocontractural type 127
HP:0001933HP:0001933Subcutaneous hemorrhage0CHST14 CL E G H11318924464ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040281 - Very frequent27
HP:0001933HP:0001933Subcutaneous hemorrhage0CLCN7 CL E G H11862025ORPHA:667Autosomal recessive malignant osteopetrosis102
HP:0001933HP:0001933Subcutaneous hemorrhage0CLCN7 CL E G H11862025OMIM:611490Osteopetrosis, autosomal recessive 4102
HP:0001933HP:0001933Subcutaneous hemorrhage0COG8 CL E G H8434218623ORPHA:95428COG8-CDG39
HP:0001933HP:0001933Subcutaneous hemorrhage0COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndrome373
HP:0001933HP:0001933Subcutaneous hemorrhage0COL1A1 CL E G H12772197OMIM:619115COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1373
HP:0001933HP:0001933Subcutaneous hemorrhage0COL1A1 CL E G H12772197OMIM:130060Ehlers-Danlos syndrome, arthrochalasia type, 1373
HP:0001933HP:0001933Subcutaneous hemorrhage0COL1A1 CL E G H12772197OMIM:166200Osteogenesis imperfecta, type I373
HP:0001933HP:0001933Subcutaneous hemorrhage0COL1A2 CL E G H12782198ORPHA:230851Cardiac-valvular Ehlers-Danlos syndrome243
HP:0001933HP:0001933Subcutaneous hemorrhage0COL1A2 CL E G H12782198OMIM:619120COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2; OIEDS2243
HP:0001933HP:0001933Subcutaneous hemorrhage0COL1A2 CL E G H12782198OMIM:617821Ehlers-Danlos syndrome, arthrochalasia type, 2243
HP:0001933HP:0001933Subcutaneous hemorrhage0COL1A2 CL E G H12782198OMIM:225320Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form243
HP:0001933HP:0001933Subcutaneous hemorrhage0COL3A1 CL E G H12812201OMIM:130050Ehlers-Danlos syndrome, Vascular type749
HP:0001933HP:0001933Subcutaneous hemorrhage0COL3A1 CL E G H12812201OMIM:618343Polymicrogyria with or without vascular-type ehlers-danlos syndrome749
HP:0001933HP:0001933Subcutaneous hemorrhage0COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndrome749
HP:0001933HP:0001933Subcutaneous hemorrhage0COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndrome660
HP:0001933HP:0001933Subcutaneous hemorrhage0COL5A1 CL E G H12892209OMIM:130000Ehlers-danlos syndrome, type I660
HP:0001933HP:0001933Subcutaneous hemorrhage0COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndrome325
HP:0001933HP:0001933Subcutaneous hemorrhage0COL5A2 CL E G H12902210OMIM:130010Ehlers-Danlos syndrome, classic type, 2325
HP:0001933HP:0001933Subcutaneous hemorrhage0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndrome6
HP:0001933HP:0001933Subcutaneous hemorrhage0CR2 CL E G H13802336ORPHA:1572Common variable immunodeficiency10
HP:0001933HP:0001933Subcutaneous hemorrhage0CREB3L1 CL E G H9099318856OMIM:616229Osteogenesis imperfecta, type XVI4
HP:0001933HP:0001933Subcutaneous hemorrhage0CTLA4 CL E G H14932505ORPHA:900Granulomatosis with polyangiitis10
HP:0001933HP:0001933Subcutaneous hemorrhage0DSE CL E G H2994021144ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040281 - Very frequent13
HP:0001933HP:0001933Subcutaneous hemorrhage0DTNBP1 CL E G H8406217328OMIM:614076Hermansky-Pudlak syndrome 746
HP:0001933HP:0001933Subcutaneous hemorrhage0ELN CL E G H20063327ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection172
HP:0001933HP:0001933Subcutaneous hemorrhage0EMILIN1 CL E G H1111719880OMIM:6200802
HP:0001933HP:0001933Subcutaneous hemorrhage0ENG CL E G H20223349ORPHA:774Hereditary hemorrhagic telangiectasia186
HP:0001933HP:0001933Subcutaneous hemorrhage0ENPP1 CL E G H51673356ORPHA:758Pseudoxanthoma elasticum151
HP:0001933HP:0001933Subcutaneous hemorrhage0EPHB2 CL E G H20483393OMIM:618462Bleeding disorder, platelet-type, 227
HP:0001933HP:0001933Subcutaneous hemorrhage0ETHE1 CL E G H2347423287OMIM:602473Encephalopathy, ethylmalonic42
HP:0001933HP:0001933Subcutaneous hemorrhage0ETHE1 CL E G H2347423287ORPHA:51188Ethylmalonic encephalopathy42
HP:0001933HP:0001933Subcutaneous hemorrhage0ETV6 CL E G H21203495OMIM:616216Thrombocytopenia 513
HP:0001933HP:0001933Subcutaneous hemorrhage0F10 CL E G H21593528ORPHA:328Congenital factor X deficiency33
HP:0001933HP:0001933Subcutaneous hemorrhage0F13A1 CL E G H21623531ORPHA:331Congenital factor XIII deficiencyHP:0040282 - Frequent60
HP:0001933HP:0001933Subcutaneous hemorrhage0F13A1 CL E G H21623531OMIM:613225Factor XIII, A subunit, deficiency of60
HP:0001933HP:0001933Subcutaneous hemorrhage0F13B CL E G H21653534ORPHA:331Congenital factor XIII deficiencyHP:0040282 - Frequent32
HP:0001933HP:0001933Subcutaneous hemorrhage0F13B CL E G H21653534OMIM:613235Factor XIIIB deficiency32
HP:0001933HP:0001933Subcutaneous hemorrhage0F2 CL E G H21473535OMIM:613679Congenital prothrombin deficiency44
HP:0001933HP:0001933Subcutaneous hemorrhage0F5 CL E G H21533542ORPHA:326Congenital factor V deficiency159
HP:0001933HP:0001933Subcutaneous hemorrhage0F5 CL E G H21533542OMIM:227400Factor V deficiency159
HP:0001933HP:0001933Subcutaneous hemorrhage0F7 CL E G H21553544ORPHA:327Congenital factor VII deficiency70
HP:0001933HP:0001933Subcutaneous hemorrhage0F8 CL E G H21573546ORPHA:177926Bleeding disorder in hemophilia A carriers without FVIII deficiency303
HP:0001933HP:0001933Subcutaneous hemorrhage0F8 CL E G H21573546OMIM:306700Hemophilia A303
HP:0001933HP:0001933Subcutaneous hemorrhage0F8 CL E G H21573546ORPHA:169805Moderate hemophilia AHP:0040282 - Frequent303
HP:0001933HP:0001933Subcutaneous hemorrhage0F8 CL E G H21573546ORPHA:169802Severe hemophilia A303
HP:0001933HP:0001933Subcutaneous hemorrhage0FANCA CL E G H21753582OMIM:227650Fanconi anemia340
HP:0001933HP:0001933Subcutaneous hemorrhage0FANCC CL E G H21763584OMIM:227645Fanconi anemia, complementation group C410
HP:0001933HP:0001933Subcutaneous hemorrhage0FANCD2 CL E G H21773585OMIM:227646Fanconi anemia, complementation group D2147
HP:0001933HP:0001933Subcutaneous hemorrhage0FANCE CL E G H21783586OMIM:600901Fanconi anemia, complementation group E73
HP:0001933HP:0001933Subcutaneous hemorrhage0FAS CL E G H35511920ORPHA:3261Autoimmune lymphoproliferative syndrome59
HP:0001933HP:0001933Subcutaneous hemorrhage0FASLG CL E G H35611936ORPHA:3261Autoimmune lymphoproliferative syndrome37
HP:0001933HP:0001933Subcutaneous hemorrhage0FBN1 CL E G H22003603ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection1361
HP:0001933HP:0001933Subcutaneous hemorrhage0FBN1 CL E G H22003603OMIM:616914Marfan lipodystrophy syndrome1361
HP:0001933HP:0001933Subcutaneous hemorrhage0FCGR2C CL E G H910315626ORPHA:3002Immune thrombocytopenia
HP:0001933HP:0001933Subcutaneous hemorrhage0FERMT3 CL E G H8370623151OMIM:612840Leukocyte adhesion deficiency, type III23
HP:0001933HP:0001933Subcutaneous hemorrhage0FGA CL E G H22433661OMIM:202400Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included47
HP:0001933HP:0001933Subcutaneous hemorrhage0FGB CL E G H22443662OMIM:202400Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included62
HP:0001933HP:0001933Subcutaneous hemorrhage0FGG CL E G H22663694OMIM:202400Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included34
HP:0001933HP:0001933Subcutaneous hemorrhage0FIP1L1 CL E G H8160819124ORPHA:520Acute promyelocytic leukemia4
HP:0001933HP:0001933Subcutaneous hemorrhage0FKBP14 CL E G H5503318625OMIM:614557Ehlers-Danlos syndrome, kyphoscoliotic type, 213
HP:0001933HP:0001933Subcutaneous hemorrhage0FKBP14 CL E G H5503318625ORPHA:300179Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency13
HP:0001933HP:0001933Subcutaneous hemorrhage0FLNA CL E G H23163754ORPHA:75497X-linked Ehlers-Danlos syndrome493
HP:0001933HP:0001933Subcutaneous hemorrhage0FOXE3 CL E G H23013808ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection23
HP:0001933HP:0001933Subcutaneous hemorrhage0FYB1 CL E G H25334036OMIM:273900THROMBOCYTOPENIA 3; THC34
HP:0001933HP:0001933Subcutaneous hemorrhage0GATA1 CL E G H26234170OMIM:314050Thrombocytopenia with beta-thalassemia, X-linked29
HP:0001933HP:0001933Subcutaneous hemorrhage0GATA1 CL E G H26234170OMIM:300367Thrombocytopenia, X-linked, with or without dyserythropoietic anemia29
HP:0001933HP:0001933Subcutaneous hemorrhage0GATA2 CL E G H26244171ORPHA:3226Deafness-lymphedema-leukemia syndrome137
HP:0001933HP:0001933Subcutaneous hemorrhage0GBA1 CL E G H26294177ORPHA:77259Gaucher disease type 1
HP:0001933HP:0001933Subcutaneous hemorrhage0GBA1 CL E G H26294177OMIM:608013Gaucher disease, perinatal lethal
HP:0001933HP:0001933Subcutaneous hemorrhage0GBA1 CL E G H26294177ORPHA:2072Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0001933HP:0001933Subcutaneous hemorrhage0GDF2 CL E G H26584217ORPHA:774Hereditary hemorrhagic telangiectasia8
HP:0001933HP:0001933Subcutaneous hemorrhage0GFI1B CL E G H83284238OMIM:187900Bleeding disorder, platelet-type, 173
HP:0001933HP:0001933Subcutaneous hemorrhage0GGCX CL E G H26774247OMIM:277450VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1129
HP:0001933HP:0001933Subcutaneous hemorrhage0GIMAP5 CL E G H5534018005OMIM:619463PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0001933HP:0001933Subcutaneous hemorrhage0GNA11 CL E G H27674379ORPHA:1556Cutis marmorata telangiectatica congenitaHP:0040281 - Very frequent16
HP:0001933HP:0001933Subcutaneous hemorrhage0GNA14 CL E G H96304382ORPHA:1063Tufted angioma
HP:0001933HP:0001933Subcutaneous hemorrhage0GNAS CL E G H27784392OMIM:219080ACTH-independent macronodular adrenal hyperplasia101
HP:0001933HP:0001933Subcutaneous hemorrhage0GNAS CL E G H27784392ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasia101
HP:0001933HP:0001933Subcutaneous hemorrhage0GP1BA CL E G H28114439ORPHA:274Bernard-Soulier syndrome23
HP:0001933HP:0001933Subcutaneous hemorrhage0GP1BA CL E G H28114439OMIM:153670Bernard-Soulier syndrome, type A2, autosomal dominant23
HP:0001933HP:0001933Subcutaneous hemorrhage0GP1BA CL E G H28114439OMIM:231200BERNARD-SOULIER SYNDROME; BSS23
HP:0001933HP:0001933Subcutaneous hemorrhage0GP1BA CL E G H28114439ORPHA:853Fetal and neonatal alloimmune thrombocytopenia23
HP:0001933HP:0001933Subcutaneous hemorrhage0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndrome8
HP:0001933HP:0001933Subcutaneous hemorrhage0GP1BB CL E G H28124440ORPHA:274Bernard-Soulier syndrome8
HP:0001933HP:0001933Subcutaneous hemorrhage0GP1BB CL E G H28124440OMIM:231200BERNARD-SOULIER SYNDROME; BSS8
HP:0001933HP:0001933Subcutaneous hemorrhage0GP1BB CL E G H28124440ORPHA:853Fetal and neonatal alloimmune thrombocytopenia8
HP:0001933HP:0001933Subcutaneous hemorrhage0GP6 CL E G H5120614388OMIM:614201Bleeding disorder, platelet-type, 1124
HP:0001933HP:0001933Subcutaneous hemorrhage0GP9 CL E G H28154444ORPHA:274Bernard-Soulier syndrome21
HP:0001933HP:0001933Subcutaneous hemorrhage0GP9 CL E G H28154444OMIM:231200BERNARD-SOULIER SYNDROME; BSS21
HP:0001933HP:0001933Subcutaneous hemorrhage0GSN CL E G H29344620ORPHA:85448AGel amyloidosis53
HP:0001933HP:0001933Subcutaneous hemorrhage0HBA1 CL E G H30394823ORPHA:98791Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16200
HP:0001933HP:0001933Subcutaneous hemorrhage0HBA2 CL E G H30404824ORPHA:98791Alpha-thalassemia-intellectual disability syndrome linked to chromosome 1688
HP:0001933HP:0001933Subcutaneous hemorrhage0HEY2 CL E G H234934881ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection
HP:0001933HP:0001933Subcutaneous hemorrhage0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndrome3
HP:0001933HP:0001933Subcutaneous hemorrhage0HLA-DPA1 CL E G H31134938ORPHA:900Granulomatosis with polyangiitis
HP:0001933HP:0001933Subcutaneous hemorrhage0HLA-DPB1 CL E G H31154940ORPHA:900Granulomatosis with polyangiitis1
HP:0001933HP:0001933Subcutaneous hemorrhage0HOXA11 CL E G H32075101OMIM:605432Radioulnar synostosis with amegakaryocytic thrombocytopenia3
HP:0001933HP:0001933Subcutaneous hemorrhage0HPS1 CL E G H32575163OMIM:203300Hermansky-Pudlak syndrome 1121
HP:0001933HP:0001933Subcutaneous hemorrhage0HPS3 CL E G H8434315597OMIM:614072Hermansky-Pudlak syndrome 367
HP:0001933HP:0001933Subcutaneous hemorrhage0HPS4 CL E G H8978115844OMIM:614073Hermansky-Pudlak syndrome 4123
HP:0001933HP:0001933Subcutaneous hemorrhage0HPS5 CL E G H1123417022OMIM:614074Hermansky-Pudlak syndrome 5105
HP:0001933HP:0001933Subcutaneous hemorrhage0HPS6 CL E G H7980318817OMIM:614075Hermansky-Pudlak syndrome 645
HP:0001933HP:0001933Subcutaneous hemorrhage0ICOS CL E G H298515351ORPHA:1572Common variable immunodeficiency32
HP:0001933HP:0001933Subcutaneous hemorrhage0IFNG CL E G H34585438ORPHA:88Idiopathic aplastic anemia23
HP:0001933HP:0001933Subcutaneous hemorrhage0IPO8 CL E G H105269853ORPHA:60030Loeys-Dietz syndrome
HP:0001933HP:0001933Subcutaneous hemorrhage0IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0001933HP:0001933Subcutaneous hemorrhage0IRF2BP2 CL E G H35994821729ORPHA:520Acute promyelocytic leukemia4
HP:0001933HP:0001933Subcutaneous hemorrhage0IRF2BP2 CL E G H35994821729ORPHA:1572Common variable immunodeficiency4
HP:0001933HP:0001933Subcutaneous hemorrhage0ITGA2 CL E G H36736137ORPHA:853Fetal and neonatal alloimmune thrombocytopenia119
HP:0001933HP:0001933Subcutaneous hemorrhage0ITGA2B CL E G H36746138OMIM:187800Bleeding disorder, platelet-type, 1669
HP:0001933HP:0001933Subcutaneous hemorrhage0ITGA2B CL E G H36746138ORPHA:853Fetal and neonatal alloimmune thrombocytopenia69
HP:0001933HP:0001933Subcutaneous hemorrhage0ITGA2B CL E G H36746138ORPHA:849Glanzmann thrombasthenia69
HP:0001933HP:0001933Subcutaneous hemorrhage0ITGA2B CL E G H36746138OMIM:273800Glanzmann thrombasthenia69
HP:0001933HP:0001933Subcutaneous hemorrhage0ITGB3 CL E G H36906156ORPHA:853Fetal and neonatal alloimmune thrombocytopenia80
HP:0001933HP:0001933Subcutaneous hemorrhage0ITGB3 CL E G H36906156ORPHA:849Glanzmann thrombasthenia80
HP:0001933HP:0001933Subcutaneous hemorrhage0ITGB3 CL E G H36906156OMIM:619267GLANZMANN THROMBASTHENIA 2; GT280
HP:0001933HP:0001933Subcutaneous hemorrhage0JAK2 CL E G H37176192OMIM:254450Myelofibrosismyelofibrosis with myeloid metaplasia, included57
HP:0001933HP:0001933Subcutaneous hemorrhage0JAK2 CL E G H37176192ORPHA:729Polycythemia vera57
HP:0001933HP:0001933Subcutaneous hemorrhage0JAK2 CL E G H37176192ORPHA:824Primary myelofibrosis57
HP:0001933HP:0001933Subcutaneous hemorrhage0JAM2 CL E G H5849414686ORPHA:1980Bilateral striopallidodentate calcinosisHP:0040281 - Very frequent
HP:0001933HP:0001933Subcutaneous hemorrhage0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndrome2
HP:0001933HP:0001933Subcutaneous hemorrhage0KRAS CL E G H38456407OMIM:609942Noonan syndrome 3196
HP:0001933HP:0001933Subcutaneous hemorrhage0LCP2 CL E G H39376529OMIM:619374IMMUNODEFICIENCY 81; IMD81
HP:0001933HP:0001933Subcutaneous hemorrhage0LMAN1 CL E G H39986631ORPHA:35909Combined deficiency of factor V and factor VIII56
HP:0001933HP:0001933Subcutaneous hemorrhage0LOX CL E G H40156664ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection6
HP:0001933HP:0001933Subcutaneous hemorrhage0LYST CL E G H11301968ORPHA:352723Attenuated Chédiak-Higashi syndrome239
HP:0001933HP:0001933Subcutaneous hemorrhage0LYST CL E G H11301968ORPHA:167Chédiak-Higashi syndrome239
HP:0001933HP:0001933Subcutaneous hemorrhage0LYST CL E G H11301968OMIM:214500Chediak-Higashi syndrome239
HP:0001933HP:0001933Subcutaneous hemorrhage0MAP2K1 CL E G H56046840OMIM:163950Noonan syndrome 1134
HP:0001933HP:0001933Subcutaneous hemorrhage0MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0001933HP:0001933Subcutaneous hemorrhage0MAT2A CL E G H41446904ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection13
HP:0001933HP:0001933Subcutaneous hemorrhage0MCFD2 CL E G H9041118451ORPHA:35909Combined deficiency of factor V and factor VIII77
HP:0001933HP:0001933Subcutaneous hemorrhage0MFAP5 CL E G H807629673ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection11
HP:0001933HP:0001933Subcutaneous hemorrhage0MPL CL E G H43527217OMIM:254450Myelofibrosismyelofibrosis with myeloid metaplasia, included97
HP:0001933HP:0001933Subcutaneous hemorrhage0MPL CL E G H43527217ORPHA:729Polycythemia vera97
HP:0001933HP:0001933Subcutaneous hemorrhage0MPL CL E G H43527217ORPHA:824Primary myelofibrosis97
HP:0001933HP:0001933Subcutaneous hemorrhage0MS4A1 CL E G H9317315ORPHA:1572Common variable immunodeficiency1
HP:0001933HP:0001933Subcutaneous hemorrhage0MTAP CL E G H45077413OMIM:112250Diaphyseal medullary stenosis with malignant fibrous histiocytoma85
HP:0001933HP:0001933Subcutaneous hemorrhage0MVK CL E G H45987530ORPHA:343Hyperimmunoglobulinemia D with periodic fever150
HP:0001933HP:0001933Subcutaneous hemorrhage0MYD88 CL E G H46157562ORPHA:33226Waldenström macroglobulinemia9
HP:0001933HP:0001933Subcutaneous hemorrhage0MYH11 CL E G H46297569ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection418
HP:0001933HP:0001933Subcutaneous hemorrhage0MYH9 CL E G H46277579OMIM:155100Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss297
HP:0001933HP:0001933Subcutaneous hemorrhage0MYH9 CL E G H46277579ORPHA:182050MYH9-related disease297
HP:0001933HP:0001933Subcutaneous hemorrhage0MYLK CL E G H46387590ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection326
HP:0001933HP:0001933Subcutaneous hemorrhage0MYORG CL E G H5746219918ORPHA:1980Bilateral striopallidodentate calcinosisHP:0040281 - Very frequent
HP:0001933HP:0001933Subcutaneous hemorrhage0NABP1 CL E G H6485926232ORPHA:520Acute promyelocytic leukemia
HP:0001933HP:0001933Subcutaneous hemorrhage0NBEAL2 CL E G H2321831928OMIM:139090Gray platelet syndrome127
HP:0001933HP:0001933Subcutaneous hemorrhage0NBEAL2 CL E G H2321831928ORPHA:721Gray platelet syndrome127
HP:0001933HP:0001933Subcutaneous hemorrhage0NEU1 CL E G H47587758ORPHA:93400Congenital sialidosis type 243
HP:0001933HP:0001933Subcutaneous hemorrhage0NFIX CL E G H47847788ORPHA:561Marshall-Smith syndrome40
HP:0001933HP:0001933Subcutaneous hemorrhage0NFKB1 CL E G H47907794ORPHA:1572Common variable immunodeficiency7
HP:0001933HP:0001933Subcutaneous hemorrhage0NFKB2 CL E G H47917795ORPHA:1572Common variable immunodeficiency11
HP:0001933HP:0001933Subcutaneous hemorrhage0NLRP3 CL E G H11454816400ORPHA:1451CINCA syndrome217
HP:0001933HP:0001933Subcutaneous hemorrhage0NPM1 CL E G H48697910ORPHA:520Acute promyelocytic leukemia12
HP:0001933HP:0001933Subcutaneous hemorrhage0NR3C1 CL E G H29087978ORPHA:96253Cushing disease79
HP:0001933HP:0001933Subcutaneous hemorrhage0NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 497
HP:0001933HP:0001933Subcutaneous hemorrhage0NUMA1 CL E G H49268059ORPHA:520Acute promyelocytic leukemia
HP:0001933HP:0001933Subcutaneous hemorrhage0OCLN CL E G H1005066588104OMIM:251290Band-Like calcification with simplified gyration and polymicrogyria23
HP:0001933HP:0001933Subcutaneous hemorrhage0ORAI1 CL E G H8487625896ORPHA:3204Stormorken-Sjaastad-Langslet syndrome19
HP:0001933HP:0001933Subcutaneous hemorrhage0P2RY12 CL E G H6480518124OMIM:609821Bleeding disorder, platelet-type, 85
HP:0001933HP:0001933Subcutaneous hemorrhage0PDE11A CL E G H509408773ORPHA:1359Carney complex13
HP:0001933HP:0001933Subcutaneous hemorrhage0PDE11A CL E G H509408773OMIM:610475Pigmented nodular adrenocortical disease, primary, 213
HP:0001933HP:0001933Subcutaneous hemorrhage0PDE11A CL E G H509408773ORPHA:189439Primary pigmented nodular adrenocortical disease13
HP:0001933HP:0001933Subcutaneous hemorrhage0PDE8B CL E G H86228794ORPHA:189439Primary pigmented nodular adrenocortical disease75
HP:0001933HP:0001933Subcutaneous hemorrhage0PDGFB CL E G H51558800ORPHA:1980Bilateral striopallidodentate calcinosisHP:0040281 - Very frequent9
HP:0001933HP:0001933Subcutaneous hemorrhage0PDGFRB CL E G H51598804ORPHA:1980Bilateral striopallidodentate calcinosisHP:0040281 - Very frequent28
HP:0001933HP:0001933Subcutaneous hemorrhage0PEPD CL E G H51848840OMIM:170100Prolidase deficiency66
HP:0001933HP:0001933Subcutaneous hemorrhage0PLAU CL E G H53289052OMIM:601709Quebec platelet disorder50
HP:0001933HP:0001933Subcutaneous hemorrhage0PLEC CL E G H53399069OMIM:131950Epidermolysis bullosa simplex, Ogna type759
HP:0001933HP:0001933Subcutaneous hemorrhage0PLOD1 CL E G H53519081OMIM:225400Ehlers-Danlos syndrome, kyphoscoliotic type, 1105
HP:0001933HP:0001933Subcutaneous hemorrhage0PLOD1 CL E G H53519081ORPHA:1900Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency105
HP:0001933HP:0001933Subcutaneous hemorrhage0PLOD3 CL E G H89859083OMIM:612394Bone fragility with contractures, arterial rupture, and deafness5
HP:0001933HP:0001933Subcutaneous hemorrhage0PML CL E G H53719113ORPHA:520Acute promyelocytic leukemia3
HP:0001933HP:0001933Subcutaneous hemorrhage0PRDM5 CL E G H111079349ORPHA:90354Brittle cornea syndrome58
HP:0001933HP:0001933Subcutaneous hemorrhage0PRF1 CL E G H55519360ORPHA:540Familial hemophagocytic lymphohistiocytosis58
HP:0001933HP:0001933Subcutaneous hemorrhage0PRF1 CL E G H55519360ORPHA:88Idiopathic aplastic anemia58
HP:0001933HP:0001933Subcutaneous hemorrhage0PRKACA CL E G H55669380OMIM:615830Pigmented nodular adrenocortical disease, primary, 42
HP:0001933HP:0001933Subcutaneous hemorrhage0PRKACA CL E G H55669380ORPHA:189439Primary pigmented nodular adrenocortical disease2
HP:0001933HP:0001933Subcutaneous hemorrhage0PRKACG CL E G H55689382OMIM:616176Bleeding disorder, platelet-type, 192
HP:0001933HP:0001933Subcutaneous hemorrhage0PRKAR1A CL E G H55739388ORPHA:520Acute promyelocytic leukemia134
HP:0001933HP:0001933Subcutaneous hemorrhage0PRKAR1A CL E G H55739388ORPHA:1359Carney complex134
HP:0001933HP:0001933Subcutaneous hemorrhage0PRKAR1A CL E G H55739388OMIM:610489Pigmented nodular adrenocortical disease, primary, 1134
HP:0001933HP:0001933Subcutaneous hemorrhage0PRKAR1A CL E G H55739388ORPHA:189439Primary pigmented nodular adrenocortical disease134
HP:0001933HP:0001933Subcutaneous hemorrhage0PRKCD CL E G H55809399ORPHA:3261Autoimmune lymphoproliferative syndrome10
HP:0001933HP:0001933Subcutaneous hemorrhage0PRKCD CL E G H55809399ORPHA:1572Common variable immunodeficiency10
HP:0001933HP:0001933Subcutaneous hemorrhage0PRKG1 CL E G H55929414ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection41
HP:0001933HP:0001933Subcutaneous hemorrhage0PROC CL E G H56249451ORPHA:745Severe hereditary thrombophilia due to congenital protein C deficiency65
HP:0001933HP:0001933Subcutaneous hemorrhage0PROC CL E G H56249451OMIM:612304Thrombophilia due to protein C deficiency, autosomal recessive65
HP:0001933HP:0001933Subcutaneous hemorrhage0PROS1 CL E G H56279456ORPHA:743Severe hereditary thrombophilia due to congenital protein S deficiencyHP:0040282 - Frequent75
HP:0001933HP:0001933Subcutaneous hemorrhage0PROS1 CL E G H56279456OMIM:614514Thrombophilia due to protein S deficiency, autosomal recessive75
HP:0001933HP:0001933Subcutaneous hemorrhage0PROS1 CL E G H56279456OMIM:612336Thrombophilia, hereditary, due to protein S deficiency, autosomal75
HP:0001933HP:0001933Subcutaneous hemorrhage0PRTN3 CL E G H56579495ORPHA:900Granulomatosis with polyangiitis
HP:0001933HP:0001933Subcutaneous hemorrhage0PTEN CL E G H57289588ORPHA:109Bannayan-Riley-Ruvalcaba syndromeHP:0040282 - Frequent948
HP:0001933HP:0001933Subcutaneous hemorrhage0PTPN11 CL E G H57819644OMIM:163950Noonan syndrome 1291
HP:0001933HP:0001933Subcutaneous hemorrhage0PTPN22 CL E G H261919652ORPHA:900Granulomatosis with polyangiitis3
HP:0001933HP:0001933Subcutaneous hemorrhage0PYCR1 CL E G H58319721OMIM:612940Cutis laxa, autosomal recessive, type IIB53
HP:0001933HP:0001933Subcutaneous hemorrhage0RAB27A CL E G H58739766ORPHA:79477Griscelli syndrome type 267
HP:0001933HP:0001933Subcutaneous hemorrhage0RARA CL E G H59149864ORPHA:520Acute promyelocytic leukemia2
HP:0001933HP:0001933Subcutaneous hemorrhage0RASGRP1 CL E G H101259878ORPHA:3261Autoimmune lymphoproliferative syndrome
HP:0001933HP:0001933Subcutaneous hemorrhage0RIN2 CL E G H5445318750OMIM:613075Macs syndrome43
HP:0001933HP:0001933Subcutaneous hemorrhage0RIN2 CL E G H5445318750ORPHA:217335RIN2 syndrome43
HP:0001933HP:0001933Subcutaneous hemorrhage0RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndrome
HP:0001933HP:0001933Subcutaneous hemorrhage0RUNX1 CL E G H86110471OMIM:601399Platelet disorder, familial, with associated myeloid malignancy181
HP:0001933HP:0001933Subcutaneous hemorrhage0SAMD9 CL E G H548091348OMIM:617053Mirage syndrome8
HP:0001933HP:0001933Subcutaneous hemorrhage0SBDS CL E G H5111919440ORPHA:88Idiopathic aplastic anemia26
HP:0001933HP:0001933Subcutaneous hemorrhage0SCARB2 CL E G H9501665ORPHA:77259Gaucher disease type 177
HP:0001933HP:0001933Subcutaneous hemorrhage0SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndrome
HP:0001933HP:0001933Subcutaneous hemorrhage0SERPINE1 CL E G H50548583ORPHA:465Congenital plasminogen activator inhibitor type 1 deficiencyHP:0040282 - Frequent39
HP:0001933HP:0001933Subcutaneous hemorrhage0SERPINF2 CL E G H53459075ORPHA:79Congenital alpha2-antiplasmin deficiency8
HP:0001933HP:0001933Subcutaneous hemorrhage0SERPINF2 CL E G H53459075OMIM:262850Plasmin inhibitor deficiency8
HP:0001933HP:0001933Subcutaneous hemorrhage0SH2B3 CL E G H1001929605OMIM:254450Myelofibrosismyelofibrosis with myeloid metaplasia, included4
HP:0001933HP:0001933Subcutaneous hemorrhage0SIK3 CL E G H2338729165OMIM:618162Spondyloepimetaphyseal dysplasia, Krakow type
HP:0001933HP:0001933Subcutaneous hemorrhage0SLC20A2 CL E G H657510947ORPHA:1980Bilateral striopallidodentate calcinosisHP:0040281 - Very frequent70
HP:0001933HP:0001933Subcutaneous hemorrhage0SLC2A10 CL E G H8103113444OMIM:208050Arterial tortuosity syndrome178
HP:0001933HP:0001933Subcutaneous hemorrhage0SLC35A1 CL E G H1055911021OMIM:603585Congenital disorder of glycosylation, type IIf24
HP:0001933HP:0001933Subcutaneous hemorrhage0SLC35A1 CL E G H1055911021ORPHA:238459SLC35A1-CDGHP:0040281 - Very frequent24
HP:0001933HP:0001933Subcutaneous hemorrhage0SLC37A4 CL E G H25424061ORPHA:79259Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib110
HP:0001933HP:0001933Subcutaneous hemorrhage0SLC39A13 CL E G H9125220859OMIM:612350Ehlers-Danlos syndrome, spondylodysplastic type, 324
HP:0001933HP:0001933Subcutaneous hemorrhage0SLC39A13 CL E G H9125220859ORPHA:157965SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome24
HP:0001933HP:0001933Subcutaneous hemorrhage0SLC51A CL E G H20093129955OMIM:619484CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6; PFIC6
HP:0001933HP:0001933Subcutaneous hemorrhage0SLFN14 CL E G H34261832689OMIM:616913Bleeding disorder, platelet-type, 206
HP:0001933HP:0001933Subcutaneous hemorrhage0SMAD2 CL E G H40876768ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection7
HP:0001933HP:0001933Subcutaneous hemorrhage0SMAD3 CL E G H40886769ORPHA:284984Aneurysm-osteoarthritis syndrome260
HP:0001933HP:0001933Subcutaneous hemorrhage0SMAD3 CL E G H40886769ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection260
HP:0001933HP:0001933Subcutaneous hemorrhage0SMAD3 CL E G H40886769OMIM:613795LOEYS-DIETZ SYNDROME 3; LDS3260
HP:0001933HP:0001933Subcutaneous hemorrhage0SMAD4 CL E G H40896770ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection504
HP:0001933HP:0001933Subcutaneous hemorrhage0SMAD4 CL E G H40896770ORPHA:774Hereditary hemorrhagic telangiectasia504
HP:0001933HP:0001933Subcutaneous hemorrhage0SNX10 CL E G H2988714974ORPHA:667Autosomal recessive malignant osteopetrosis2
HP:0001933HP:0001933Subcutaneous hemorrhage0SOS1 CL E G H665411187OMIM:610733Noonan syndrome 4315
HP:0001933HP:0001933Subcutaneous hemorrhage0SPRED2 CL E G H20073417722OMIM:619745NOONAN SYNDROME 14; NS14
HP:0001933HP:0001933Subcutaneous hemorrhage0STAT3 CL E G H677411364ORPHA:520Acute promyelocytic leukemia110
HP:0001933HP:0001933Subcutaneous hemorrhage0STAT5B CL E G H677711367ORPHA:520Acute promyelocytic leukemia12
HP:0001933HP:0001933Subcutaneous hemorrhage0STIM1 CL E G H678611386ORPHA:3204Stormorken-Sjaastad-Langslet syndrome31
HP:0001933HP:0001933Subcutaneous hemorrhage0STX11 CL E G H867611429ORPHA:540Familial hemophagocytic lymphohistiocytosis85
HP:0001933HP:0001933Subcutaneous hemorrhage0STXBP2 CL E G H681311445ORPHA:540Familial hemophagocytic lymphohistiocytosis70
HP:0001933HP:0001933Subcutaneous hemorrhage0TBL1XR1 CL E G H7971829529ORPHA:520Acute promyelocytic leukemia22
HP:0001933HP:0001933Subcutaneous hemorrhage0TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndrome32
HP:0001933HP:0001933Subcutaneous hemorrhage0TBXA2R CL E G H691511608OMIM:614009BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO; BDPLT1310
HP:0001933HP:0001933Subcutaneous hemorrhage0TCIRG1 CL E G H1031211647ORPHA:667Autosomal recessive malignant osteopetrosis82
HP:0001933HP:0001933Subcutaneous hemorrhage0TERC CL E G H701211727ORPHA:88Idiopathic aplastic anemia48
HP:0001933HP:0001933Subcutaneous hemorrhage0TERT CL E G H701511730ORPHA:88Idiopathic aplastic anemia238
HP:0001933HP:0001933Subcutaneous hemorrhage0TET2 CL E G H5479025941ORPHA:729Polycythemia vera3
HP:0001933HP:0001933Subcutaneous hemorrhage0TET2 CL E G H5479025941ORPHA:824Primary myelofibrosis3
HP:0001933HP:0001933Subcutaneous hemorrhage0TFR2 CL E G H703611762OMIM:604250Hemochromatosis, type 367
HP:0001933HP:0001933Subcutaneous hemorrhage0TGFB2 CL E G H704211768ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection162
HP:0001933HP:0001933Subcutaneous hemorrhage0TGFB2 CL E G H704211768OMIM:614816LOEYS-DIETZ SYNDROME 4; LDS4162
HP:0001933HP:0001933Subcutaneous hemorrhage0TGFB3 CL E G H704311769ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection85
HP:0001933HP:0001933Subcutaneous hemorrhage0TGFB3 CL E G H704311769OMIM:615582LOEYS-DIETZ SYNDROME 5; LDS585
HP:0001933HP:0001933Subcutaneous hemorrhage0TGFBR1 CL E G H704611772ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection239
HP:0001933HP:0001933Subcutaneous hemorrhage0TGFBR1 CL E G H704611772ORPHA:60030Loeys-Dietz syndrome239
HP:0001933HP:0001933Subcutaneous hemorrhage0TGFBR2 CL E G H704811773ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection253
HP:0001933HP:0001933Subcutaneous hemorrhage0TGFBR2 CL E G H704811773ORPHA:60030Loeys-Dietz syndrome253
HP:0001933HP:0001933Subcutaneous hemorrhage0TNFRSF13B CL E G H2349518153ORPHA:1572Common variable immunodeficiency32
HP:0001933HP:0001933Subcutaneous hemorrhage0TNFRSF13C CL E G H11565017755ORPHA:1572Common variable immunodeficiency12
HP:0001933HP:0001933Subcutaneous hemorrhage0TNFRSF1A CL E G H713211916ORPHA:32960Tumor necrosis factor receptor 1 associated periodic syndrome131
HP:0001933HP:0001933Subcutaneous hemorrhage0TNFSF11 CL E G H860011926ORPHA:667Autosomal recessive malignant osteopetrosis44
HP:0001933HP:0001933Subcutaneous hemorrhage0TNFSF12 CL E G H874211927ORPHA:1572Common variable immunodeficiency1
HP:0001933HP:0001933Subcutaneous hemorrhage0TNXB CL E G H714811976ORPHA:230839Classical-like Ehlers-Danlos syndrome type 1134
HP:0001933HP:0001933Subcutaneous hemorrhage0TNXB CL E G H714811976OMIM:606408Ehlers-Danlos syndrome, classic-like134
HP:0001933HP:0001933Subcutaneous hemorrhage0TP53 CL E G H715711998ORPHA:96253Cushing disease911
HP:0001933HP:0001933Subcutaneous hemorrhage0TREX1 CL E G H1127712269OMIM:225750Aicardi-Goutieres syndrome 156
HP:0001933HP:0001933Subcutaneous hemorrhage0UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndrome
HP:0001933HP:0001933Subcutaneous hemorrhage0UNC13D CL E G H20129423147ORPHA:540Familial hemophagocytic lymphohistiocytosis116
HP:0001933HP:0001933Subcutaneous hemorrhage0USP18 CL E G H1127412616OMIM:617397Pseudo-Torch syndrome 22
HP:0001933HP:0001933Subcutaneous hemorrhage0USP48 CL E G H8419618533ORPHA:96253Cushing disease1
HP:0001933HP:0001933Subcutaneous hemorrhage0USP8 CL E G H910112631ORPHA:96253Cushing disease7
HP:0001933HP:0001933Subcutaneous hemorrhage0USP8 CL E G H910112631OMIM:219090Pituitary adenoma 4, ACTH-secreting, somatic7
HP:0001933HP:0001933Subcutaneous hemorrhage0VWF CL E G H745012726OMIM:193400Von willebrand disease, type 1533
HP:0001933HP:0001933Subcutaneous hemorrhage0VWF CL E G H745012726OMIM:613554Von willebrand disease, type 2533
HP:0001933HP:0001933Subcutaneous hemorrhage0VWF CL E G H745012726OMIM:277480Von willebrand disease, type 3533
HP:0001933HP:0001933Subcutaneous hemorrhage0WAS CL E G H745412731OMIM:313900Thrombocytopenia 165
HP:0001933HP:0001933Subcutaneous hemorrhage0WAS CL E G H745412731OMIM:301000Wiskott-Aldrich syndrome65
HP:0001933HP:0001933Subcutaneous hemorrhage0WAS CL E G H745412731ORPHA:906Wiskott-Aldrich syndrome65
HP:0001933HP:0001933Subcutaneous hemorrhage0WIPF1 CL E G H745612736ORPHA:906Wiskott-Aldrich syndrome6
HP:0001933HP:0001933Subcutaneous hemorrhage0XPR1 CL E G H921312827ORPHA:1980Bilateral striopallidodentate calcinosisHP:0040281 - Very frequent4
HP:0001933HP:0001933Subcutaneous hemorrhage0ZBTB16 CL E G H770412930ORPHA:520Acute promyelocytic leukemia1
HP:0001933HP:0001933Subcutaneous hemorrhage0ZNF469 CL E G H8462723216ORPHA:90354Brittle cornea syndrome397
HP:0001933HP:0000978Bruising susceptibility1ABCC6 CL E G H36857ORPHA:758Pseudoxanthoma elasticumHP:0040282 - Frequent415
HP:0001933HP:0000979Purpura1ACP5 CL E G H54124OMIM:607944Spondyloenchondrodysplasia with immune dysregulation.16
HP:0001933HP:0000978Bruising susceptibility1ACTA2 CL E G H59130ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional94
HP:0001933HP:0007420Spontaneous hematomas1ACVRL1 CL E G H94175ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040282 - Frequent178
HP:0001933HP:0000979Purpura1ADA2 CL E G H518161839OMIM:615688Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome22
HP:0001933HP:0000978Bruising susceptibility1ADAMTS2 CL E G H9509218OMIM:225410Ehlers-Danlos syndrome, type VII, autosomal recessive.165
HP:0001933HP:0000978Bruising susceptibility1AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2HP:0040281 - Very frequent
HP:0001933HP:0000978Bruising susceptibility1AEBP1 CL E G H165303OMIM:618000Ehlers-Danlos syndrome, classic-like, 2.
HP:0001933HP:0000978Bruising susceptibility1AIP CL E G H9049358OMIM:219090Pituitary adenoma 4, ACTH-secreting, somatic.95
HP:0001933HP:0000979Purpura1AIP CL E G H9049358OMIM:219090Pituitary adenoma 4, ACTH-secreting, somatic.95
HP:0001933HP:0000978Bruising susceptibility1ANKRD26 CL E G H2285229186OMIM:188000THROMBOCYTOPENIA 2; THC2106
HP:0001933HP:0000979Purpura1APOE CL E G H348613ORPHA:158029Sea-blue histiocytosis39
HP:0001933HP:0000979Purpura1ARL6IP6 CL E G H15118824048ORPHA:1556Cutis marmorata telangiectatica congenitaHP:0040283 - Occasional1
HP:0001933HP:0000978Bruising susceptibility1ARMC5 CL E G H7979825781ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasiaHP:0040282 - Frequent7
HP:0001933HP:0000979Purpura1ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional1
HP:0001933HP:0007420Spontaneous hematomas1ATP7A CL E G H538869ORPHA:565Menkes diseaseHP:0040283 - Occasional192
HP:0001933HP:0000978Bruising susceptibility1ATP7A CL E G H538869OMIM:304150Occipital horn syndrome.192
HP:0001933HP:0000978Bruising susceptibility1ATP7A CL E G H538869ORPHA:198Occipital horn syndromeHP:0040282 - Frequent192
HP:0001933HP:0000978Bruising susceptibility1ATP7B CL E G H540870ORPHA:905Wilson diseaseHP:0040281 - Very frequent315
HP:0001933HP:0000978Bruising susceptibility1ATRX CL E G H546886ORPHA:231401Alpha-thalassemia-myelodysplastic syndromeHP:0040282 - Frequent169
HP:0001933HP:0000978Bruising susceptibility1ATRX CL E G H546886ORPHA:96253Cushing diseaseHP:0040282 - Frequent169
HP:0001933HP:0000979Purpura1ATRX CL E G H546886ORPHA:96253Cushing disease169
HP:0001933HP:0000978Bruising susceptibility1B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndromeHP:0040282 - Frequent38
HP:0001933HP:0000979Purpura1BCOR CL E G H5488020893ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent101
HP:0001933HP:0000978Bruising susceptibility1BCOR CL E G H5488020893ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent101
HP:0001933HP:0000978Bruising susceptibility1BLOC1S3 CL E G H38855220914OMIM:614077Hermansky-Pudlak syndrome 8.42
HP:0001933HP:0000978Bruising susceptibility1BLOC1S5 CL E G H6391518561OMIM:619172HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0001933HP:0000978Bruising susceptibility1BRAF CL E G H6731097ORPHA:96253Cushing diseaseHP:0040282 - Frequent276
HP:0001933HP:0000979Purpura1BRAF CL E G H6731097ORPHA:96253Cushing disease276
HP:0001933HP:0000978Bruising susceptibility1BRAF CL E G H6731097OMIM:163950Noonan syndrome 1276
HP:0001933HP:0000978Bruising susceptibility1C1R CL E G H7151246OMIM:130080Ehlers-Danlos syndrome, periodontal type, 1.15
HP:0001933HP:0000978Bruising susceptibility1C1S CL E G H7161247OMIM:617174Ehlers-Danlos syndrome, periodontal type, 2.7
HP:0001933HP:0000979Purpura1C2 CL E G H7171248OMIM:217000Complement component 2 deficiency.23
HP:0001933HP:0000979Purpura1C4A CL E G H7201323OMIM:614380Complement component 4A deficiency.1
HP:0001933HP:0000979Purpura1CALR CL E G H8111455OMIM:254450Myelofibrosismyelofibrosis with myeloid metaplasia, included1
HP:0001933HP:0000979Purpura1CALR CL E G H8111455ORPHA:824Primary myelofibrosisHP:0040283 - Occasional1
HP:0001933HP:0000978Bruising susceptibility1CASP10 CL E G H8431500ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040282 - Frequent87
HP:0001933HP:0000979Purpura1CASP10 CL E G H8431500OMIM:603909Autoimmune lymphoproliferative syndrome, type IIA87
HP:0001933HP:0000979Purpura1CD109 CL E G H13522821685ORPHA:853Fetal and neonatal alloimmune thrombocytopeniaHP:0040282 - Frequent
HP:0001933HP:0007420Spontaneous hematomas1CD109 CL E G H13522821685ORPHA:853Fetal and neonatal alloimmune thrombocytopeniaHP:0040282 - Frequent
HP:0001933HP:0000979Purpura1CD19 CL E G H9301633ORPHA:1572Common variable immunodeficiencyHP:0040282 - Frequent38
HP:0001933HP:0000979Purpura1CD81 CL E G H9751701ORPHA:1572Common variable immunodeficiencyHP:0040282 - Frequent1
HP:0001933HP:0000979Purpura1CD81 CL E G H9751701OMIM:613496Immunodeficiency, common variable, 61
HP:0001933HP:0000978Bruising susceptibility1CDH23 CL E G H6407213733ORPHA:96253Cushing diseaseHP:0040282 - Frequent636
HP:0001933HP:0000979Purpura1CDH23 CL E G H6407213733ORPHA:96253Cushing disease636
HP:0001933HP:0000979Purpura1CFH CL E G H30754883OMIM:235400Hemolytic uremic syndrome, atypical, susceptibility to, 1.86
HP:0001933HP:0000979Purpura1CFHR1 CL E G H30784888OMIM:235400Hemolytic uremic syndrome, atypical, susceptibility to, 1.
HP:0001933HP:0000979Purpura1CFHR3 CL E G H1087816980OMIM:235400Hemolytic uremic syndrome, atypical, susceptibility to, 1.
HP:0001933HP:0000978Bruising susceptibility1CHST14 CL E G H11318924464OMIM:601776Ehlers-Danlos syndrome, musculocontractural type 1.27
HP:0001933HP:0000979Purpura1CHST14 CL E G H11318924464OMIM:601776Ehlers-Danlos syndrome, musculocontractural type 127
HP:0001933HP:0000978Bruising susceptibility1CHST14 CL E G H11318924464ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040281 - Very frequent27
HP:0001933HP:0000978Bruising susceptibility1CLCN7 CL E G H11862025ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040283 - Occasional102
HP:0001933HP:0000979Purpura1CLCN7 CL E G H11862025OMIM:611490Osteopetrosis, autosomal recessive 4102
HP:0001933HP:0007420Spontaneous hematomas1COG8 CL E G H8434218623ORPHA:95428COG8-CDGHP:0040283 - Occasional39
HP:0001933HP:0000979Purpura1COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndrome373
HP:0001933HP:0000978Bruising susceptibility1COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndromeHP:0040283 - Occasional373
HP:0001933HP:0000978Bruising susceptibility1COL1A1 CL E G H12772197OMIM:619115COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1373
HP:0001933HP:0000978Bruising susceptibility1COL1A1 CL E G H12772197OMIM:130060Ehlers-Danlos syndrome, arthrochalasia type, 1.373
HP:0001933HP:0000978Bruising susceptibility1COL1A1 CL E G H12772197OMIM:166200Osteogenesis imperfecta, type I.373
HP:0001933HP:0000978Bruising susceptibility1COL1A2 CL E G H12782198ORPHA:230851Cardiac-valvular Ehlers-Danlos syndromeHP:0040282 - Frequent243
HP:0001933HP:0000978Bruising susceptibility1COL1A2 CL E G H12782198OMIM:619120COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2; OIEDS2243
HP:0001933HP:0000978Bruising susceptibility1COL1A2 CL E G H12782198OMIM:617821Ehlers-Danlos syndrome, arthrochalasia type, 2.243
HP:0001933HP:0000978Bruising susceptibility1COL1A2 CL E G H12782198OMIM:225320Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form.243
HP:0001933HP:0000979Purpura1COL3A1 CL E G H12812201OMIM:130050Ehlers-Danlos syndrome, Vascular type749
HP:0001933HP:0000978Bruising susceptibility1COL3A1 CL E G H12812201OMIM:130050Ehlers-Danlos syndrome, Vascular type749
HP:0001933HP:0000978Bruising susceptibility1COL3A1 CL E G H12812201OMIM:618343Polymicrogyria with or without vascular-type ehlers-danlos syndrome.749
HP:0001933HP:0000978Bruising susceptibility1COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndromeHP:0040281 - Very frequent749
HP:0001933HP:0000979Purpura1COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndrome660
HP:0001933HP:0000978Bruising susceptibility1COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndromeHP:0040283 - Occasional660
HP:0001933HP:0000978Bruising susceptibility1COL5A1 CL E G H12892209OMIM:130000Ehlers-danlos syndrome, type I660
HP:0001933HP:0000978Bruising susceptibility1COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndromeHP:0040283 - Occasional325
HP:0001933HP:0000979Purpura1COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndrome325
HP:0001933HP:0000978Bruising susceptibility1COL5A2 CL E G H12902210OMIM:130010Ehlers-Danlos syndrome, classic type, 2325
HP:0001933HP:0000979Purpura1COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional6
HP:0001933HP:0000979Purpura1CR2 CL E G H13802336ORPHA:1572Common variable immunodeficiencyHP:0040282 - Frequent10
HP:0001933HP:0000978Bruising susceptibility1CREB3L1 CL E G H9099318856OMIM:616229Osteogenesis imperfecta, type XVI4
HP:0001933HP:0000979Purpura1CTLA4 CL E G H14932505ORPHA:900Granulomatosis with polyangiitisHP:0040283 - Occasional10
HP:0001933HP:0000978Bruising susceptibility1DSE CL E G H2994021144ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040281 - Very frequent13
HP:0001933HP:0000978Bruising susceptibility1DTNBP1 CL E G H8406217328OMIM:614076Hermansky-Pudlak syndrome 7.46
HP:0001933HP:0000978Bruising susceptibility1ELN CL E G H20063327ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional172
HP:0001933HP:0000978Bruising susceptibility1EMILIN1 CL E G H1111719880OMIM:6200802
HP:0001933HP:0007420Spontaneous hematomas1ENG CL E G H20223349ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040282 - Frequent186
HP:0001933HP:0000978Bruising susceptibility1ENPP1 CL E G H51673356ORPHA:758Pseudoxanthoma elasticumHP:0040282 - Frequent151
HP:0001933HP:0000979Purpura1ETHE1 CL E G H2347423287OMIM:602473Encephalopathy, ethylmalonic42
HP:0001933HP:0000979Purpura1ETHE1 CL E G H2347423287ORPHA:51188Ethylmalonic encephalopathy42
HP:0001933HP:0000978Bruising susceptibility1ETV6 CL E G H21203495OMIM:616216Thrombocytopenia 5.13
HP:0001933HP:0000979Purpura1ETV6 CL E G H21203495OMIM:616216Thrombocytopenia 513
HP:0001933HP:0007420Spontaneous hematomas1F10 CL E G H21593528ORPHA:328Congenital factor X deficiencyHP:0040283 - Occasional33
HP:0001933HP:0000978Bruising susceptibility1F10 CL E G H21593528ORPHA:328Congenital factor X deficiencyHP:0040283 - Occasional33
HP:0001933HP:0000978Bruising susceptibility1F13A1 CL E G H21623531ORPHA:331Congenital factor XIII deficiencyHP:0040282 - Frequent60
HP:0001933HP:0007420Spontaneous hematomas1F13A1 CL E G H21623531ORPHA:331Congenital factor XIII deficiencyHP:0040282 - Frequent60
HP:0001933HP:0000979Purpura1F13A1 CL E G H21623531ORPHA:331Congenital factor XIII deficiency60
HP:0001933HP:0000979Purpura1F13A1 CL E G H21623531OMIM:613225Factor XIII, A subunit, deficiency of60
HP:0001933HP:0000978Bruising susceptibility1F13A1 CL E G H21623531OMIM:613225Factor XIII, A subunit, deficiency of.60
HP:0001933HP:0007420Spontaneous hematomas1F13A1 CL E G H21623531OMIM:613225Factor XIII, A subunit, deficiency of.60
HP:0001933HP:0007420Spontaneous hematomas1F13B CL E G H21653534ORPHA:331Congenital factor XIII deficiencyHP:0040282 - Frequent32
HP:0001933HP:0000978Bruising susceptibility1F13B CL E G H21653534ORPHA:331Congenital factor XIII deficiencyHP:0040282 - Frequent32
HP:0001933HP:0000979Purpura1F13B CL E G H21653534ORPHA:331Congenital factor XIII deficiency32
HP:0001933HP:0000979Purpura1F13B CL E G H21653534OMIM:613235Factor XIIIB deficiency32
HP:0001933HP:0000978Bruising susceptibility1F13B CL E G H21653534OMIM:613235Factor XIIIB deficiency.32
HP:0001933HP:0000978Bruising susceptibility1F2 CL E G H21473535OMIM:613679Congenital prothrombin deficiency.44
HP:0001933HP:0000979Purpura1F2 CL E G H21473535OMIM:613679Congenital prothrombin deficiency44
HP:0001933HP:0007420Spontaneous hematomas1F5 CL E G H21533542ORPHA:326Congenital factor V deficiencyHP:0040283 - Occasional159
HP:0001933HP:0000978Bruising susceptibility1F5 CL E G H21533542ORPHA:326Congenital factor V deficiencyHP:0040283 - Occasional159
HP:0001933HP:0000978Bruising susceptibility1F5 CL E G H21533542OMIM:227400Factor V deficiency.159
HP:0001933HP:0000978Bruising susceptibility1F7 CL E G H21553544ORPHA:327Congenital factor VII deficiencyHP:0040282 - Frequent70
HP:0001933HP:0007420Spontaneous hematomas1F8 CL E G H21573546ORPHA:177926Bleeding disorder in hemophilia A carriers without FVIII deficiencyHP:0040284 - Very rare303
HP:0001933HP:0000978Bruising susceptibility1F8 CL E G H21573546ORPHA:177926Bleeding disorder in hemophilia A carriers without FVIII deficiencyHP:0040281 - Very frequent303
HP:0001933HP:0000978Bruising susceptibility1F8 CL E G H21573546OMIM:306700Hemophilia A.303
HP:0001933HP:0007420Spontaneous hematomas1F8 CL E G H21573546ORPHA:169805Moderate hemophilia AHP:0040284 - Very rare303
HP:0001933HP:0000978Bruising susceptibility1F8 CL E G H21573546ORPHA:169802Severe hemophilia AHP:0040282 - Frequent303
HP:0001933HP:0000978Bruising susceptibility1FANCA CL E G H21753582OMIM:227650Fanconi anemia.340
HP:0001933HP:0000978Bruising susceptibility1FANCC CL E G H21763584OMIM:227645Fanconi anemia, complementation group C.410
HP:0001933HP:0000978Bruising susceptibility1FANCD2 CL E G H21773585OMIM:227646Fanconi anemia, complementation group D2.147
HP:0001933HP:0000978Bruising susceptibility1FANCE CL E G H21783586OMIM:600901Fanconi anemia, complementation group E.73
HP:0001933HP:0000978Bruising susceptibility1FAS CL E G H35511920ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040282 - Frequent59
HP:0001933HP:0000978Bruising susceptibility1FASLG CL E G H35611936ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040282 - Frequent37
HP:0001933HP:0000978Bruising susceptibility1FBN1 CL E G H22003603ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional1361
HP:0001933HP:0000978Bruising susceptibility1FBN1 CL E G H22003603OMIM:616914Marfan lipodystrophy syndrome1361
HP:0001933HP:0000978Bruising susceptibility1FCGR2C CL E G H910315626ORPHA:3002Immune thrombocytopeniaHP:0040283 - Occasional
HP:0001933HP:0000979Purpura1FCGR2C CL E G H910315626ORPHA:3002Immune thrombocytopeniaHP:0040282 - Frequent
HP:0001933HP:0000979Purpura1FERMT3 CL E G H8370623151OMIM:612840Leukocyte adhesion deficiency, type III23
HP:0001933HP:0000978Bruising susceptibility1FGA CL E G H22433661OMIM:202400Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included47
HP:0001933HP:0000978Bruising susceptibility1FGB CL E G H22443662OMIM:202400Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included62
HP:0001933HP:0000978Bruising susceptibility1FGG CL E G H22663694OMIM:202400Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included34
HP:0001933HP:0000979Purpura1FIP1L1 CL E G H8160819124ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent4
HP:0001933HP:0000978Bruising susceptibility1FIP1L1 CL E G H8160819124ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent4
HP:0001933HP:0000978Bruising susceptibility1FKBP14 CL E G H5503318625OMIM:614557Ehlers-Danlos syndrome, kyphoscoliotic type, 2HP:0040283 - Occasional13
HP:0001933HP:0000978Bruising susceptibility1FKBP14 CL E G H5503318625ORPHA:300179Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiencyHP:0040282 - Frequent13
HP:0001933HP:0000978Bruising susceptibility1FLNA CL E G H23163754ORPHA:75497X-linked Ehlers-Danlos syndromeHP:0040281 - Very frequent493
HP:0001933HP:0000978Bruising susceptibility1FOXE3 CL E G H23013808ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional23
HP:0001933HP:0000979Purpura1FYB1 CL E G H25334036OMIM:273900THROMBOCYTOPENIA 3; THC34
HP:0001933HP:0000979Purpura1GATA1 CL E G H26234170OMIM:314050Thrombocytopenia with beta-thalassemia, X-linked29
HP:0001933HP:0000978Bruising susceptibility1GATA1 CL E G H26234170OMIM:314050Thrombocytopenia with beta-thalassemia, X-linked.29
HP:0001933HP:0000979Purpura1GATA1 CL E G H26234170OMIM:300367Thrombocytopenia, X-linked, with or without dyserythropoietic anemia29
HP:0001933HP:0000978Bruising susceptibility1GATA1 CL E G H26234170OMIM:300367Thrombocytopenia, X-linked, with or without dyserythropoietic anemia.29
HP:0001933HP:0000978Bruising susceptibility1GATA2 CL E G H26244171ORPHA:3226Deafness-lymphedema-leukemia syndromeHP:0040282 - Frequent137
HP:0001933HP:0000978Bruising susceptibility1GBA1 CL E G H26294177ORPHA:77259Gaucher disease type 1HP:0040282 - Frequent
HP:0001933HP:0000979Purpura1GBA1 CL E G H26294177OMIM:608013Gaucher disease, perinatal lethal.
HP:0001933HP:0000979Purpura1GBA1 CL E G H26294177ORPHA:2072Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0001933HP:0007420Spontaneous hematomas1GDF2 CL E G H26584217ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040282 - Frequent8
HP:0001933HP:0000978Bruising susceptibility1GFI1B CL E G H83284238OMIM:187900Bleeding disorder, platelet-type, 17.3
HP:0001933HP:0000979Purpura1GFI1B CL E G H83284238OMIM:187900Bleeding disorder, platelet-type, 173
HP:0001933HP:0000979Purpura1GGCX CL E G H26774247OMIM:277450VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1129
HP:0001933HP:0000978Bruising susceptibility1GGCX CL E G H26774247OMIM:277450VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1.129
HP:0001933HP:0000979Purpura1GIMAP5 CL E G H5534018005OMIM:619463PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0001933HP:0000979Purpura1GNA11 CL E G H27674379ORPHA:1556Cutis marmorata telangiectatica congenitaHP:0040283 - Occasional16
HP:0001933HP:0000979Purpura1GNA14 CL E G H96304382ORPHA:1063Tufted angiomaHP:0040283 - Occasional
HP:0001933HP:0000978Bruising susceptibility1GNAS CL E G H27784392OMIM:219080ACTH-independent macronodular adrenal hyperplasia.101
HP:0001933HP:0000978Bruising susceptibility1GNAS CL E G H27784392ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasiaHP:0040282 - Frequent101
HP:0001933HP:0000978Bruising susceptibility1GP1BA CL E G H28114439ORPHA:274Bernard-Soulier syndromeHP:0040283 - Occasional23
HP:0001933HP:0007420Spontaneous hematomas1GP1BA CL E G H28114439ORPHA:274Bernard-Soulier syndromeHP:0040282 - Frequent23
HP:0001933HP:0000979Purpura1GP1BA CL E G H28114439ORPHA:274Bernard-Soulier syndrome23
HP:0001933HP:0000979Purpura1GP1BA CL E G H28114439OMIM:153670Bernard-Soulier syndrome, type A2, autosomal dominant23
HP:0001933HP:0000978Bruising susceptibility1GP1BA CL E G H28114439OMIM:153670Bernard-Soulier syndrome, type A2, autosomal dominant.23
HP:0001933HP:0000979Purpura1GP1BA CL E G H28114439OMIM:231200BERNARD-SOULIER SYNDROME; BSS23
HP:0001933HP:0007420Spontaneous hematomas1GP1BA CL E G H28114439ORPHA:853Fetal and neonatal alloimmune thrombocytopeniaHP:0040282 - Frequent23
HP:0001933HP:0000979Purpura1GP1BA CL E G H28114439ORPHA:853Fetal and neonatal alloimmune thrombocytopeniaHP:0040282 - Frequent23
HP:0001933HP:0000979Purpura1GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional8
HP:0001933HP:0007420Spontaneous hematomas1GP1BB CL E G H28124440ORPHA:274Bernard-Soulier syndromeHP:0040282 - Frequent8
HP:0001933HP:0000978Bruising susceptibility1GP1BB CL E G H28124440ORPHA:274Bernard-Soulier syndromeHP:0040283 - Occasional8
HP:0001933HP:0000979Purpura1GP1BB CL E G H28124440ORPHA:274Bernard-Soulier syndrome8
HP:0001933HP:0000979Purpura1GP1BB CL E G H28124440OMIM:231200BERNARD-SOULIER SYNDROME; BSS8
HP:0001933HP:0000979Purpura1GP1BB CL E G H28124440ORPHA:853Fetal and neonatal alloimmune thrombocytopeniaHP:0040282 - Frequent8
HP:0001933HP:0007420Spontaneous hematomas1GP1BB CL E G H28124440ORPHA:853Fetal and neonatal alloimmune thrombocytopeniaHP:0040282 - Frequent8
HP:0001933HP:0000979Purpura1GP6 CL E G H5120614388OMIM:614201Bleeding disorder, platelet-type, 1124
HP:0001933HP:0000978Bruising susceptibility1GP6 CL E G H5120614388OMIM:614201Bleeding disorder, platelet-type, 11.24
HP:0001933HP:0000978Bruising susceptibility1GP9 CL E G H28154444ORPHA:274Bernard-Soulier syndromeHP:0040283 - Occasional21
HP:0001933HP:0000979Purpura1GP9 CL E G H28154444ORPHA:274Bernard-Soulier syndrome21
HP:0001933HP:0007420Spontaneous hematomas1GP9 CL E G H28154444ORPHA:274Bernard-Soulier syndromeHP:0040282 - Frequent21
HP:0001933HP:0000979Purpura1GP9 CL E G H28154444OMIM:231200BERNARD-SOULIER SYNDROME; BSS21
HP:0001933HP:0000978Bruising susceptibility1GSN CL E G H29344620ORPHA:85448AGel amyloidosisHP:0040282 - Frequent53
HP:0001933HP:0000978Bruising susceptibility1HBA1 CL E G H30394823ORPHA:98791Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16HP:0040282 - Frequent200
HP:0001933HP:0000978Bruising susceptibility1HBA2 CL E G H30404824ORPHA:98791Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16HP:0040282 - Frequent88
HP:0001933HP:0000978Bruising susceptibility1HEY2 CL E G H234934881ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional
HP:0001933HP:0000979Purpura1HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional3
HP:0001933HP:0000979Purpura1HLA-DPA1 CL E G H31134938ORPHA:900Granulomatosis with polyangiitisHP:0040283 - Occasional
HP:0001933HP:0000979Purpura1HLA-DPB1 CL E G H31154940ORPHA:900Granulomatosis with polyangiitisHP:0040283 - Occasional1
HP:0001933HP:0000979Purpura1HOXA11 CL E G H32075101OMIM:605432Radioulnar synostosis with amegakaryocytic thrombocytopenia.3
HP:0001933HP:0000979Purpura1HPS1 CL E G H32575163OMIM:203300Hermansky-Pudlak syndrome 1121
HP:0001933HP:0000978Bruising susceptibility1HPS1 CL E G H32575163OMIM:203300Hermansky-Pudlak syndrome 1.121
HP:0001933HP:0000978Bruising susceptibility1HPS3 CL E G H8434315597OMIM:614072Hermansky-Pudlak syndrome 3.67
HP:0001933HP:0000978Bruising susceptibility1HPS4 CL E G H8978115844OMIM:614073Hermansky-Pudlak syndrome 4.123
HP:0001933HP:0000978Bruising susceptibility1HPS5 CL E G H1123417022OMIM:614074Hermansky-Pudlak syndrome 5.105
HP:0001933HP:0000978Bruising susceptibility1HPS6 CL E G H7980318817OMIM:614075Hermansky-Pudlak syndrome 6.45
HP:0001933HP:0000979Purpura1HPS6 CL E G H7980318817OMIM:614075Hermansky-Pudlak syndrome 645
HP:0001933HP:0000979Purpura1ICOS CL E G H298515351ORPHA:1572Common variable immunodeficiencyHP:0040282 - Frequent32
HP:0001933HP:0000979Purpura1IFNG CL E G H34585438ORPHA:88Idiopathic aplastic anemia23
HP:0001933HP:0000978Bruising susceptibility1IPO8 CL E G H105269853ORPHA:60030Loeys-Dietz syndromeHP:0040283 - Occasional
HP:0001933HP:0000978Bruising susceptibility1IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0001933HP:0000979Purpura1IRF2BP2 CL E G H35994821729ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent4
HP:0001933HP:0000978Bruising susceptibility1IRF2BP2 CL E G H35994821729ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent4
HP:0001933HP:0000979Purpura1IRF2BP2 CL E G H35994821729ORPHA:1572Common variable immunodeficiencyHP:0040282 - Frequent4
HP:0001933HP:0007420Spontaneous hematomas1ITGA2 CL E G H36736137ORPHA:853Fetal and neonatal alloimmune thrombocytopeniaHP:0040282 - Frequent119
HP:0001933HP:0000979Purpura1ITGA2 CL E G H36736137ORPHA:853Fetal and neonatal alloimmune thrombocytopeniaHP:0040282 - Frequent119
HP:0001933HP:0000979Purpura1ITGA2B CL E G H36746138OMIM:187800Bleeding disorder, platelet-type, 1669
HP:0001933HP:0000979Purpura1ITGA2B CL E G H36746138ORPHA:853Fetal and neonatal alloimmune thrombocytopeniaHP:0040282 - Frequent69
HP:0001933HP:0007420Spontaneous hematomas1ITGA2B CL E G H36746138ORPHA:853Fetal and neonatal alloimmune thrombocytopeniaHP:0040282 - Frequent69
HP:0001933HP:0000978Bruising susceptibility1ITGA2B CL E G H36746138ORPHA:849Glanzmann thrombastheniaHP:0040282 - Frequent69
HP:0001933HP:0000979Purpura1ITGA2B CL E G H36746138ORPHA:849Glanzmann thrombastheniaHP:0040283 - Occasional69
HP:0001933HP:0000978Bruising susceptibility1ITGA2B CL E G H36746138OMIM:273800Glanzmann thrombasthenia.69
HP:0001933HP:0007420Spontaneous hematomas1ITGA2B CL E G H36746138ORPHA:849Glanzmann thrombastheniaHP:0040283 - Occasional69
HP:0001933HP:0000979Purpura1ITGA2B CL E G H36746138OMIM:273800Glanzmann thrombasthenia.69
HP:0001933HP:0007420Spontaneous hematomas1ITGB3 CL E G H36906156ORPHA:853Fetal and neonatal alloimmune thrombocytopeniaHP:0040282 - Frequent80
HP:0001933HP:0000979Purpura1ITGB3 CL E G H36906156ORPHA:853Fetal and neonatal alloimmune thrombocytopeniaHP:0040282 - Frequent80
HP:0001933HP:0000978Bruising susceptibility1ITGB3 CL E G H36906156ORPHA:849Glanzmann thrombastheniaHP:0040282 - Frequent80
HP:0001933HP:0000979Purpura1ITGB3 CL E G H36906156ORPHA:849Glanzmann thrombastheniaHP:0040283 - Occasional80
HP:0001933HP:0007420Spontaneous hematomas1ITGB3 CL E G H36906156ORPHA:849Glanzmann thrombastheniaHP:0040283 - Occasional80
HP:0001933HP:0000978Bruising susceptibility1ITGB3 CL E G H36906156OMIM:619267GLANZMANN THROMBASTHENIA 2; GT280
HP:0001933HP:0000979Purpura1JAK2 CL E G H37176192OMIM:254450Myelofibrosismyelofibrosis with myeloid metaplasia, included57
HP:0001933HP:0000978Bruising susceptibility1JAK2 CL E G H37176192ORPHA:729Polycythemia veraHP:0040281 - Very frequent57
HP:0001933HP:0000979Purpura1JAK2 CL E G H37176192ORPHA:824Primary myelofibrosisHP:0040283 - Occasional57
HP:0001933HP:0000979Purpura1JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional2
HP:0001933HP:0000978Bruising susceptibility1KRAS CL E G H38456407OMIM:609942Noonan syndrome 3196
HP:0001933HP:0000979Purpura1LCP2 CL E G H39376529OMIM:619374IMMUNODEFICIENCY 81; IMD81
HP:0001933HP:0000978Bruising susceptibility1LMAN1 CL E G H39986631ORPHA:35909Combined deficiency of factor V and factor VIIIHP:0040282 - Frequent56
HP:0001933HP:0000978Bruising susceptibility1LOX CL E G H40156664ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional6
HP:0001933HP:0000978Bruising susceptibility1LYST CL E G H11301968ORPHA:352723Attenuated Chédiak-Higashi syndromeHP:0040281 - Very frequent239
HP:0001933HP:0000978Bruising susceptibility1LYST CL E G H11301968ORPHA:167Chédiak-Higashi syndromeHP:0040282 - Frequent239
HP:0001933HP:0000978Bruising susceptibility1LYST CL E G H11301968OMIM:214500Chediak-Higashi syndrome239
HP:0001933HP:0000978Bruising susceptibility1MAP2K1 CL E G H56046840OMIM:163950Noonan syndrome 1134
HP:0001933HP:0000978Bruising susceptibility1MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0001933HP:0000978Bruising susceptibility1MAT2A CL E G H41446904ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional13
HP:0001933HP:0000978Bruising susceptibility1MCFD2 CL E G H9041118451ORPHA:35909Combined deficiency of factor V and factor VIIIHP:0040282 - Frequent77
HP:0001933HP:0000978Bruising susceptibility1MFAP5 CL E G H807629673ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional11
HP:0001933HP:0000979Purpura1MPL CL E G H43527217OMIM:254450Myelofibrosismyelofibrosis with myeloid metaplasia, included97
HP:0001933HP:0000978Bruising susceptibility1MPL CL E G H43527217ORPHA:729Polycythemia veraHP:0040281 - Very frequent97
HP:0001933HP:0000979Purpura1MPL CL E G H43527217ORPHA:824Primary myelofibrosisHP:0040283 - Occasional97
HP:0001933HP:0000979Purpura1MS4A1 CL E G H9317315ORPHA:1572Common variable immunodeficiencyHP:0040282 - Frequent1
HP:0001933HP:0000978Bruising susceptibility1MTAP CL E G H45077413OMIM:112250Diaphyseal medullary stenosis with malignant fibrous histiocytomaHP:0040283 - Occasional85
HP:0001933HP:0000979Purpura1MVK CL E G H45987530ORPHA:343Hyperimmunoglobulinemia D with periodic feverHP:0040283 - Occasional150
HP:0001933HP:0000979Purpura1MYD88 CL E G H46157562ORPHA:33226Waldenström macroglobulinemiaHP:0040283 - Occasional9
HP:0001933HP:0000978Bruising susceptibility1MYH11 CL E G H46297569ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional418
HP:0001933HP:0000978Bruising susceptibility1MYH9 CL E G H46277579OMIM:155100Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss.297
HP:0001933HP:0000978Bruising susceptibility1MYH9 CL E G H46277579ORPHA:182050MYH9-related diseaseHP:0040282 - Frequent297
HP:0001933HP:0000978Bruising susceptibility1MYLK CL E G H46387590ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional326
HP:0001933HP:0000979Purpura1NABP1 CL E G H6485926232ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent
HP:0001933HP:0000978Bruising susceptibility1NABP1 CL E G H6485926232ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent
HP:0001933HP:0000978Bruising susceptibility1NBEAL2 CL E G H2321831928OMIM:139090Gray platelet syndrome.127
HP:0001933HP:0000978Bruising susceptibility1NBEAL2 CL E G H2321831928ORPHA:721Gray platelet syndromeHP:0040281 - Very frequent127
HP:0001933HP:0000979Purpura1NEU1 CL E G H47587758ORPHA:93400Congenital sialidosis type 243
HP:0001933HP:0000978Bruising susceptibility1NFIX CL E G H47847788ORPHA:561Marshall-Smith syndromeHP:0040282 - Frequent40
HP:0001933HP:0000979Purpura1NFKB1 CL E G H47907794ORPHA:1572Common variable immunodeficiencyHP:0040282 - Frequent7
HP:0001933HP:0000979Purpura1NFKB2 CL E G H47917795ORPHA:1572Common variable immunodeficiencyHP:0040282 - Frequent11
HP:0001933HP:0000979Purpura1NLRP3 CL E G H11454816400ORPHA:1451CINCA syndromeHP:0040283 - Occasional217
HP:0001933HP:0000978Bruising susceptibility1NPM1 CL E G H48697910ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent12
HP:0001933HP:0000979Purpura1NPM1 CL E G H48697910ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent12
HP:0001933HP:0000978Bruising susceptibility1NR3C1 CL E G H29087978ORPHA:96253Cushing diseaseHP:0040282 - Frequent79
HP:0001933HP:0000979Purpura1NR3C1 CL E G H29087978ORPHA:96253Cushing disease79
HP:0001933HP:0000978Bruising susceptibility1NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 4HP:0040283 - Occasional97
HP:0001933HP:0000978Bruising susceptibility1NUMA1 CL E G H49268059ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent
HP:0001933HP:0000979Purpura1NUMA1 CL E G H49268059ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent
HP:0001933HP:0000979Purpura1OCLN CL E G H1005066588104OMIM:251290Band-Like calcification with simplified gyration and polymicrogyria23
HP:0001933HP:0000979Purpura1ORAI1 CL E G H8487625896ORPHA:3204Stormorken-Sjaastad-Langslet syndromeHP:0040281 - Very frequent19
HP:0001933HP:0000979Purpura1P2RY12 CL E G H6480518124OMIM:609821Bleeding disorder, platelet-type, 85
HP:0001933HP:0000978Bruising susceptibility1P2RY12 CL E G H6480518124OMIM:609821Bleeding disorder, platelet-type, 85
HP:0001933HP:0000978Bruising susceptibility1PDE11A CL E G H509408773ORPHA:1359Carney complex13
HP:0001933HP:0000978Bruising susceptibility1PDE11A CL E G H509408773OMIM:610475Pigmented nodular adrenocortical disease, primary, 2.13
HP:0001933HP:0000978Bruising susceptibility1PDE11A CL E G H509408773ORPHA:189439Primary pigmented nodular adrenocortical disease13
HP:0001933HP:0000978Bruising susceptibility1PDE8B CL E G H86228794ORPHA:189439Primary pigmented nodular adrenocortical disease75
HP:0001933HP:0000979Purpura1PEPD CL E G H51848840OMIM:170100Prolidase deficiency66
HP:0001933HP:0000978Bruising susceptibility1PLAU CL E G H53289052OMIM:601709Quebec platelet disorder.50
HP:0001933HP:0000978Bruising susceptibility1PLEC CL E G H53399069OMIM:131950Epidermolysis bullosa simplex, Ogna type.759
HP:0001933HP:0000978Bruising susceptibility1PLOD1 CL E G H53519081OMIM:225400Ehlers-Danlos syndrome, kyphoscoliotic type, 1105
HP:0001933HP:0000978Bruising susceptibility1PLOD1 CL E G H53519081ORPHA:1900Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiencyHP:0040281 - Very frequent105
HP:0001933HP:0000978Bruising susceptibility1PLOD3 CL E G H89859083OMIM:612394Bone fragility with contractures, arterial rupture, and deafness.5
HP:0001933HP:0000979Purpura1PML CL E G H53719113ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent3
HP:0001933HP:0000978Bruising susceptibility1PML CL E G H53719113ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent3
HP:0001933HP:0000978Bruising susceptibility1PRDM5 CL E G H111079349ORPHA:90354Brittle cornea syndromeHP:0040282 - Frequent58
HP:0001933HP:0000979Purpura1PRF1 CL E G H55519360ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040282 - Frequent58
HP:0001933HP:0000978Bruising susceptibility1PRF1 CL E G H55519360ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040283 - Occasional58
HP:0001933HP:0000979Purpura1PRF1 CL E G H55519360ORPHA:88Idiopathic aplastic anemia58
HP:0001933HP:0000978Bruising susceptibility1PRKACA CL E G H55669380OMIM:615830Pigmented nodular adrenocortical disease, primary, 4.2
HP:0001933HP:0000978Bruising susceptibility1PRKACA CL E G H55669380ORPHA:189439Primary pigmented nodular adrenocortical disease2
HP:0001933HP:0007420Spontaneous hematomas1PRKACG CL E G H55689382OMIM:616176Bleeding disorder, platelet-type, 19.2
HP:0001933HP:0000979Purpura1PRKAR1A CL E G H55739388ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent134
HP:0001933HP:0000978Bruising susceptibility1PRKAR1A CL E G H55739388ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent134
HP:0001933HP:0000978Bruising susceptibility1PRKAR1A CL E G H55739388ORPHA:1359Carney complex134
HP:0001933HP:0000978Bruising susceptibility1PRKAR1A CL E G H55739388OMIM:610489Pigmented nodular adrenocortical disease, primary, 1.134
HP:0001933HP:0000978Bruising susceptibility1PRKAR1A CL E G H55739388ORPHA:189439Primary pigmented nodular adrenocortical disease134
HP:0001933HP:0000978Bruising susceptibility1PRKCD CL E G H55809399ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040282 - Frequent10
HP:0001933HP:0000979Purpura1PRKCD CL E G H55809399ORPHA:1572Common variable immunodeficiencyHP:0040282 - Frequent10
HP:0001933HP:0000978Bruising susceptibility1PRKG1 CL E G H55929414ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional41
HP:0001933HP:0000979Purpura1PROC CL E G H56249451ORPHA:745Severe hereditary thrombophilia due to congenital protein C deficiencyHP:0040282 - Frequent65
HP:0001933HP:0000979Purpura1PROC CL E G H56249451OMIM:612304Thrombophilia due to protein C deficiency, autosomal recessive.65
HP:0001933HP:0000979Purpura1PROS1 CL E G H56279456ORPHA:743Severe hereditary thrombophilia due to congenital protein S deficiencyHP:0040281 - Very frequent75
HP:0001933HP:0000979Purpura1PROS1 CL E G H56279456OMIM:614514Thrombophilia due to protein S deficiency, autosomal recessive.75
HP:0001933HP:0000979Purpura1PROS1 CL E G H56279456OMIM:612336Thrombophilia, hereditary, due to protein S deficiency, autosomal.75
HP:0001933HP:0000979Purpura1PRTN3 CL E G H56579495ORPHA:900Granulomatosis with polyangiitisHP:0040283 - Occasional
HP:0001933HP:0000978Bruising susceptibility1PTPN11 CL E G H57819644OMIM:163950Noonan syndrome 1291
HP:0001933HP:0000979Purpura1PTPN22 CL E G H261919652ORPHA:900Granulomatosis with polyangiitisHP:0040283 - Occasional3
HP:0001933HP:0000978Bruising susceptibility1PYCR1 CL E G H58319721OMIM:612940Cutis laxa, autosomal recessive, type IIB53
HP:0001933HP:0000979Purpura1RAB27A CL E G H58739766ORPHA:79477Griscelli syndrome type 267
HP:0001933HP:0000978Bruising susceptibility1RARA CL E G H59149864ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent2
HP:0001933HP:0000979Purpura1RARA CL E G H59149864ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent2
HP:0001933HP:0000978Bruising susceptibility1RASGRP1 CL E G H101259878ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040282 - Frequent
HP:0001933HP:0000978Bruising susceptibility1RIN2 CL E G H5445318750OMIM:613075Macs syndrome.43
HP:0001933HP:0000978Bruising susceptibility1RIN2 CL E G H5445318750ORPHA:217335RIN2 syndromeHP:0040282 - Frequent43
HP:0001933HP:0000979Purpura1RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0001933HP:0000978Bruising susceptibility1RUNX1 CL E G H86110471OMIM:601399Platelet disorder, familial, with associated myeloid malignancy.181
HP:0001933HP:0000979Purpura1SAMD9 CL E G H548091348OMIM:617053Mirage syndrome8
HP:0001933HP:0000979Purpura1SBDS CL E G H5111919440ORPHA:88Idiopathic aplastic anemia26
HP:0001933HP:0000978Bruising susceptibility1SCARB2 CL E G H9501665ORPHA:77259Gaucher disease type 1HP:0040282 - Frequent77
HP:0001933HP:0000979Purpura1SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0001933HP:0000978Bruising susceptibility1SERPINF2 CL E G H53459075ORPHA:79Congenital alpha2-antiplasmin deficiencyHP:0040283 - Occasional8
HP:0001933HP:0000978Bruising susceptibility1SERPINF2 CL E G H53459075OMIM:262850Plasmin inhibitor deficiency.8
HP:0001933HP:0000979Purpura1SH2B3 CL E G H1001929605OMIM:254450Myelofibrosismyelofibrosis with myeloid metaplasia, included4
HP:0001933HP:0000978Bruising susceptibility1SIK3 CL E G H2338729165OMIM:618162Spondyloepimetaphyseal dysplasia, Krakow type.
HP:0001933HP:0000978Bruising susceptibility1SLC2A10 CL E G H8103113444OMIM:208050Arterial tortuosity syndrome.178
HP:0001933HP:0000978Bruising susceptibility1SLC37A4 CL E G H25424061ORPHA:79259Glycogen storage disease due to glucose-6-phosphatase deficiency type IbHP:0040283 - Occasional110
HP:0001933HP:0000978Bruising susceptibility1SLC39A13 CL E G H9125220859OMIM:612350Ehlers-Danlos syndrome, spondylodysplastic type, 3.24
HP:0001933HP:0000978Bruising susceptibility1SLC39A13 CL E G H9125220859ORPHA:157965SLC39A13-related spondylodysplastic Ehlers-Danlos syndromeHP:0040281 - Very frequent24
HP:0001933HP:0000978Bruising susceptibility1SLC51A CL E G H20093129955OMIM:619484CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6; PFIC6
HP:0001933HP:0000978Bruising susceptibility1SLFN14 CL E G H34261832689OMIM:616913Bleeding disorder, platelet-type, 20.6
HP:0001933HP:0000978Bruising susceptibility1SMAD2 CL E G H40876768ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional7
HP:0001933HP:0000978Bruising susceptibility1SMAD3 CL E G H40886769ORPHA:284984Aneurysm-osteoarthritis syndromeHP:0040282 - Frequent260
HP:0001933HP:0000978Bruising susceptibility1SMAD3 CL E G H40886769ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional260
HP:0001933HP:0000978Bruising susceptibility1SMAD3 CL E G H40886769OMIM:613795LOEYS-DIETZ SYNDROME 3; LDS3260
HP:0001933HP:0000978Bruising susceptibility1SMAD4 CL E G H40896770ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional504
HP:0001933HP:0007420Spontaneous hematomas1SMAD4 CL E G H40896770ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040282 - Frequent504
HP:0001933HP:0000978Bruising susceptibility1SNX10 CL E G H2988714974ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040283 - Occasional2
HP:0001933HP:0000978Bruising susceptibility1SOS1 CL E G H665411187OMIM:610733Noonan syndrome 4315
HP:0001933HP:0000978Bruising susceptibility1SPRED2 CL E G H20073417722OMIM:619745NOONAN SYNDROME 14; NS14
HP:0001933HP:0000979Purpura1STAT3 CL E G H677411364ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent110
HP:0001933HP:0000978Bruising susceptibility1STAT3 CL E G H677411364ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent110
HP:0001933HP:0000978Bruising susceptibility1STAT5B CL E G H677711367ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent12
HP:0001933HP:0000979Purpura1STAT5B CL E G H677711367ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent12
HP:0001933HP:0000979Purpura1STIM1 CL E G H678611386ORPHA:3204Stormorken-Sjaastad-Langslet syndromeHP:0040281 - Very frequent31
HP:0001933HP:0000979Purpura1STX11 CL E G H867611429ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040282 - Frequent85
HP:0001933HP:0000978Bruising susceptibility1STX11 CL E G H867611429ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040283 - Occasional85
HP:0001933HP:0000979Purpura1STXBP2 CL E G H681311445ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040282 - Frequent70
HP:0001933HP:0000978Bruising susceptibility1STXBP2 CL E G H681311445ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040283 - Occasional70
HP:0001933HP:0000978Bruising susceptibility1TBL1XR1 CL E G H7971829529ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent22
HP:0001933HP:0000979Purpura1TBL1XR1 CL E G H7971829529ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent22
HP:0001933HP:0000979Purpura1TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional32
HP:0001933HP:0000978Bruising susceptibility1TBXA2R CL E G H691511608OMIM:614009BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO; BDPLT1310
HP:0001933HP:0000979Purpura1TBXA2R CL E G H691511608OMIM:614009BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO; BDPLT1310
HP:0001933HP:0000978Bruising susceptibility1TCIRG1 CL E G H1031211647ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040283 - Occasional82
HP:0001933HP:0000979Purpura1TERC CL E G H701211727ORPHA:88Idiopathic aplastic anemia48
HP:0001933HP:0000979Purpura1TERT CL E G H701511730ORPHA:88Idiopathic aplastic anemia238
HP:0001933HP:0000978Bruising susceptibility1TET2 CL E G H5479025941ORPHA:729Polycythemia veraHP:0040281 - Very frequent3
HP:0001933HP:0000979Purpura1TET2 CL E G H5479025941ORPHA:824Primary myelofibrosisHP:0040283 - Occasional3
HP:0001933HP:0000979Purpura1TFR2 CL E G H703611762OMIM:604250Hemochromatosis, type 3.67
HP:0001933HP:0000978Bruising susceptibility1TGFB2 CL E G H704211768ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional162
HP:0001933HP:0000978Bruising susceptibility1TGFB2 CL E G H704211768OMIM:614816LOEYS-DIETZ SYNDROME 4; LDS4162
HP:0001933HP:0000978Bruising susceptibility1TGFB3 CL E G H704311769ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional85
HP:0001933HP:0000978Bruising susceptibility1TGFB3 CL E G H704311769OMIM:615582LOEYS-DIETZ SYNDROME 5; LDS585
HP:0001933HP:0000978Bruising susceptibility1TGFBR1 CL E G H704611772ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional239
HP:0001933HP:0000978Bruising susceptibility1TGFBR1 CL E G H704611772ORPHA:60030Loeys-Dietz syndromeHP:0040283 - Occasional239
HP:0001933HP:0000978Bruising susceptibility1TGFBR2 CL E G H704811773ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional253
HP:0001933HP:0000978Bruising susceptibility1TGFBR2 CL E G H704811773ORPHA:60030Loeys-Dietz syndromeHP:0040283 - Occasional253
HP:0001933HP:0000979Purpura1TNFRSF13B CL E G H2349518153ORPHA:1572Common variable immunodeficiencyHP:0040282 - Frequent32
HP:0001933HP:0000979Purpura1TNFRSF13C CL E G H11565017755ORPHA:1572Common variable immunodeficiencyHP:0040282 - Frequent12
HP:0001933HP:0000978Bruising susceptibility1TNFRSF1A CL E G H713211916ORPHA:32960Tumor necrosis factor receptor 1 associated periodic syndromeHP:0040283 - Occasional131
HP:0001933HP:0000978Bruising susceptibility1TNFSF11 CL E G H860011926ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040283 - Occasional44
HP:0001933HP:0000979Purpura1TNFSF12 CL E G H874211927ORPHA:1572Common variable immunodeficiencyHP:0040282 - Frequent1
HP:0001933HP:0000978Bruising susceptibility1TNXB CL E G H714811976ORPHA:230839Classical-like Ehlers-Danlos syndrome type 1HP:0040282 - Frequent134
HP:0001933HP:0000978Bruising susceptibility1TNXB CL E G H714811976OMIM:606408Ehlers-Danlos syndrome, classic-like.134
HP:0001933HP:0000978Bruising susceptibility1TP53 CL E G H715711998ORPHA:96253Cushing diseaseHP:0040282 - Frequent911
HP:0001933HP:0000979Purpura1TP53 CL E G H715711998ORPHA:96253Cushing disease911
HP:0001933HP:0000979Purpura1TREX1 CL E G H1127712269OMIM:225750Aicardi-Goutieres syndrome 1.56
HP:0001933HP:0000979Purpura1UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0001933HP:0000979Purpura1UNC13D CL E G H20129423147ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040282 - Frequent116
HP:0001933HP:0000978Bruising susceptibility1UNC13D CL E G H20129423147ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040283 - Occasional116
HP:0001933HP:0000979Purpura1USP18 CL E G H1127412616OMIM:617397Pseudo-Torch syndrome 22
HP:0001933HP:0000978Bruising susceptibility1USP48 CL E G H8419618533ORPHA:96253Cushing diseaseHP:0040282 - Frequent1
HP:0001933HP:0000979Purpura1USP48 CL E G H8419618533ORPHA:96253Cushing disease1
HP:0001933HP:0000978Bruising susceptibility1USP8 CL E G H910112631ORPHA:96253Cushing diseaseHP:0040282 - Frequent7
HP:0001933HP:0000979Purpura1USP8 CL E G H910112631ORPHA:96253Cushing disease7
HP:0001933HP:0000978Bruising susceptibility1USP8 CL E G H910112631OMIM:219090Pituitary adenoma 4, ACTH-secreting, somatic.7
HP:0001933HP:0000979Purpura1USP8 CL E G H910112631OMIM:219090Pituitary adenoma 4, ACTH-secreting, somatic.7
HP:0001933HP:0000978Bruising susceptibility1VWF CL E G H745012726OMIM:193400Von willebrand disease, type 1533
HP:0001933HP:0000978Bruising susceptibility1VWF CL E G H745012726OMIM:613554Von willebrand disease, type 2.533
HP:0001933HP:0000978Bruising susceptibility1VWF CL E G H745012726OMIM:277480Von willebrand disease, type 3.533
HP:0001933HP:0000978Bruising susceptibility1WAS CL E G H745412731OMIM:313900Thrombocytopenia 1.65
HP:0001933HP:0000979Purpura1WAS CL E G H745412731OMIM:313900Thrombocytopenia 165
HP:0001933HP:0007420Spontaneous hematomas1WAS CL E G H745412731ORPHA:906Wiskott-Aldrich syndromeHP:0040281 - Very frequent65
HP:0001933HP:0000979Purpura1WAS CL E G H745412731OMIM:301000Wiskott-Aldrich syndrome.65
HP:0001933HP:0000979Purpura1WAS CL E G H745412731ORPHA:906Wiskott-Aldrich syndromeHP:0040282 - Frequent65
HP:0001933HP:0000978Bruising susceptibility1WAS CL E G H745412731ORPHA:906Wiskott-Aldrich syndromeHP:0040281 - Very frequent65
HP:0001933HP:0007420Spontaneous hematomas1WIPF1 CL E G H745612736ORPHA:906Wiskott-Aldrich syndromeHP:0040281 - Very frequent6
HP:0001933HP:0000979Purpura1WIPF1 CL E G H745612736ORPHA:906Wiskott-Aldrich syndromeHP:0040282 - Frequent6
HP:0001933HP:0000978Bruising susceptibility1WIPF1 CL E G H745612736ORPHA:906Wiskott-Aldrich syndromeHP:0040281 - Very frequent6
HP:0001933HP:0000978Bruising susceptibility1ZBTB16 CL E G H770412930ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent1
HP:0001933HP:0000979Purpura1ZBTB16 CL E G H770412930ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent1
HP:0001933HP:0000978Bruising susceptibility1ZNF469 CL E G H8462723216ORPHA:90354Brittle cornea syndromeHP:0040282 - Frequent397
HP:0001933HP:0031363Palpable purpura2 CL E G H
HP:0001933HP:0031365Macular purpura2AIP CL E G H9049358OMIM:219090Pituitary adenoma 4, ACTH-secreting, somatic95
HP:0001933HP:0031365Macular purpura2APOE CL E G H348613ORPHA:158029Sea-blue histiocytosis39
HP:0001933HP:0031365Macular purpura2ATRX CL E G H546886ORPHA:96253Cushing disease169
HP:0001933HP:0031365Macular purpura2BCOR CL E G H5488020893ORPHA:520Acute promyelocytic leukemia101
HP:0001933HP:0031365Macular purpura2BRAF CL E G H6731097ORPHA:96253Cushing disease276
HP:0001933HP:0031365Macular purpura2CALR CL E G H8111455ORPHA:824Primary myelofibrosis1
HP:0001933HP:0031365Macular purpura2CASP10 CL E G H8431500OMIM:603909Autoimmune lymphoproliferative syndrome, type IIA87
HP:0001933HP:0031365Macular purpura2CD109 CL E G H13522821685ORPHA:853Fetal and neonatal alloimmune thrombocytopenia
HP:0001933HP:0031365Macular purpura2CDH23 CL E G H6407213733ORPHA:96253Cushing disease636
HP:0001933HP:0031365Macular purpura2CHST14 CL E G H11318924464OMIM:601776Ehlers-Danlos syndrome, musculocontractural type 127
HP:0001933HP:0031365Macular purpura2CLCN7 CL E G H11862025OMIM:611490Osteopetrosis, autosomal recessive 4102
HP:0001933HP:0031365Macular purpura2COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndrome373
HP:0001933HP:0031365Macular purpura2COL3A1 CL E G H12812201OMIM:130050Ehlers-Danlos syndrome, Vascular type749
HP:0001933HP:0031365Macular purpura2COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndrome660
HP:0001933HP:0031365Macular purpura2COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndrome325
HP:0001933HP:0031365Macular purpura2ETHE1 CL E G H2347423287OMIM:602473Encephalopathy, ethylmalonic42
HP:0001933HP:0031365Macular purpura2ETHE1 CL E G H2347423287ORPHA:51188Ethylmalonic encephalopathy42
HP:0001933HP:0031365Macular purpura2ETV6 CL E G H21203495OMIM:616216Thrombocytopenia 513
HP:0001933HP:0031365Macular purpura2F13A1 CL E G H21623531ORPHA:331Congenital factor XIII deficiency60
HP:0001933HP:0031365Macular purpura2F13A1 CL E G H21623531OMIM:613225Factor XIII, A subunit, deficiency of60
HP:0001933HP:0031365Macular purpura2F13B CL E G H21653534ORPHA:331Congenital factor XIII deficiency32
HP:0001933HP:0031365Macular purpura2F13B CL E G H21653534OMIM:613235Factor XIIIB deficiency32
HP:0001933HP:0031365Macular purpura2F2 CL E G H21473535OMIM:613679Congenital prothrombin deficiency44
HP:0001933HP:0031365Macular purpura2FCGR2C CL E G H910315626ORPHA:3002Immune thrombocytopenia
HP:0001933HP:0031365Macular purpura2FERMT3 CL E G H8370623151OMIM:612840Leukocyte adhesion deficiency, type III23
HP:0001933HP:0031365Macular purpura2FIP1L1 CL E G H8160819124ORPHA:520Acute promyelocytic leukemia4
HP:0001933HP:0031365Macular purpura2FYB1 CL E G H25334036OMIM:273900THROMBOCYTOPENIA 3; THC34
HP:0001933HP:0031365Macular purpura2GATA1 CL E G H26234170OMIM:314050Thrombocytopenia with beta-thalassemia, X-linked29
HP:0001933HP:0031365Macular purpura2GATA1 CL E G H26234170OMIM:300367Thrombocytopenia, X-linked, with or without dyserythropoietic anemia29
HP:0001933HP:0031365Macular purpura2GBA1 CL E G H26294177OMIM:608013Gaucher disease, perinatal lethal
HP:0001933HP:0031365Macular purpura2GBA1 CL E G H26294177ORPHA:2072Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0001933HP:0031365Macular purpura2GFI1B CL E G H83284238OMIM:187900Bleeding disorder, platelet-type, 173
HP:0001933HP:0031365Macular purpura2GGCX CL E G H26774247OMIM:277450VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1129
HP:0001933HP:0031365Macular purpura2GIMAP5 CL E G H5534018005OMIM:619463PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0001933HP:0031365Macular purpura2GNA14 CL E G H96304382ORPHA:1063Tufted angioma
HP:0001933HP:0031365Macular purpura2GP1BA CL E G H28114439ORPHA:274Bernard-Soulier syndrome23
HP:0001933HP:0031365Macular purpura2GP1BA CL E G H28114439OMIM:153670Bernard-Soulier syndrome, type A2, autosomal dominant23
HP:0001933HP:0031365Macular purpura2GP1BA CL E G H28114439ORPHA:853Fetal and neonatal alloimmune thrombocytopenia23
HP:0001933HP:0031365Macular purpura2GP1BB CL E G H28124440ORPHA:274Bernard-Soulier syndrome8
HP:0001933HP:0031365Macular purpura2GP1BB CL E G H28124440ORPHA:853Fetal and neonatal alloimmune thrombocytopenia8
HP:0001933HP:0031365Macular purpura2GP6 CL E G H5120614388OMIM:614201Bleeding disorder, platelet-type, 1124
HP:0001933HP:0031365Macular purpura2GP9 CL E G H28154444ORPHA:274Bernard-Soulier syndrome21
HP:0001933HP:0031365Macular purpura2HOXA11 CL E G H32075101OMIM:605432Radioulnar synostosis with amegakaryocytic thrombocytopenia3
HP:0001933HP:0031365Macular purpura2HPS1 CL E G H32575163OMIM:203300Hermansky-Pudlak syndrome 1121
HP:0001933HP:0031365Macular purpura2HPS6 CL E G H7980318817OMIM:614075Hermansky-Pudlak syndrome 645
HP:0001933HP:0031365Macular purpura2IFNG CL E G H34585438ORPHA:88Idiopathic aplastic anemia23
HP:0001933HP:0031365Macular purpura2IRF2BP2 CL E G H35994821729ORPHA:520Acute promyelocytic leukemia4
HP:0001933HP:0031365Macular purpura2ITGA2 CL E G H36736137ORPHA:853Fetal and neonatal alloimmune thrombocytopenia119
HP:0001933HP:0031365Macular purpura2ITGA2B CL E G H36746138OMIM:187800Bleeding disorder, platelet-type, 1669
HP:0001933HP:0031365Macular purpura2ITGA2B CL E G H36746138ORPHA:853Fetal and neonatal alloimmune thrombocytopenia69
HP:0001933HP:0031365Macular purpura2ITGA2B CL E G H36746138ORPHA:849Glanzmann thrombasthenia69
HP:0001933HP:0031365Macular purpura2ITGA2B CL E G H36746138OMIM:273800Glanzmann thrombasthenia69
HP:0001933HP:0031365Macular purpura2ITGB3 CL E G H36906156ORPHA:853Fetal and neonatal alloimmune thrombocytopenia80
HP:0001933HP:0031365Macular purpura2ITGB3 CL E G H36906156ORPHA:849Glanzmann thrombasthenia80
HP:0001933HP:0031365Macular purpura2JAK2 CL E G H37176192ORPHA:824Primary myelofibrosis57
HP:0001933HP:0031365Macular purpura2LCP2 CL E G H39376529OMIM:619374IMMUNODEFICIENCY 81; IMD81
HP:0001933HP:0031365Macular purpura2MPL CL E G H43527217ORPHA:824Primary myelofibrosis97
HP:0001933HP:0031365Macular purpura2NABP1 CL E G H6485926232ORPHA:520Acute promyelocytic leukemia
HP:0001933HP:0031365Macular purpura2NEU1 CL E G H47587758ORPHA:93400Congenital sialidosis type 243
HP:0001933HP:0031365Macular purpura2NPM1 CL E G H48697910ORPHA:520Acute promyelocytic leukemia12
HP:0001933HP:0031365Macular purpura2NR3C1 CL E G H29087978ORPHA:96253Cushing disease79
HP:0001933HP:0031365Macular purpura2NUMA1 CL E G H49268059ORPHA:520Acute promyelocytic leukemia
HP:0001933HP:0031365Macular purpura2OCLN CL E G H1005066588104OMIM:251290Band-Like calcification with simplified gyration and polymicrogyria23
HP:0001933HP:0031365Macular purpura2P2RY12 CL E G H6480518124OMIM:609821Bleeding disorder, platelet-type, 85
HP:0001933HP:0031365Macular purpura2PEPD CL E G H51848840OMIM:170100Prolidase deficiency66
HP:0001933HP:0031365Macular purpura2PML CL E G H53719113ORPHA:520Acute promyelocytic leukemia3
HP:0001933HP:0031365Macular purpura2PRF1 CL E G H55519360ORPHA:540Familial hemophagocytic lymphohistiocytosis58
HP:0001933HP:0031365Macular purpura2PRF1 CL E G H55519360ORPHA:88Idiopathic aplastic anemia58
HP:0001933HP:0031365Macular purpura2PRKAR1A CL E G H55739388ORPHA:520Acute promyelocytic leukemia134
HP:0001933HP:0031365Macular purpura2RAB27A CL E G H58739766ORPHA:79477Griscelli syndrome type 267
HP:0001933HP:0031365Macular purpura2RARA CL E G H59149864ORPHA:520Acute promyelocytic leukemia2
HP:0001933HP:0031365Macular purpura2SAMD9 CL E G H548091348OMIM:617053Mirage syndrome8
HP:0001933HP:0031365Macular purpura2SBDS CL E G H5111919440ORPHA:88Idiopathic aplastic anemia26
HP:0001933HP:0031365Macular purpura2STAT3 CL E G H677411364ORPHA:520Acute promyelocytic leukemia110
HP:0001933HP:0031365Macular purpura2STAT5B CL E G H677711367ORPHA:520Acute promyelocytic leukemia12
HP:0001933HP:0031365Macular purpura2STX11 CL E G H867611429ORPHA:540Familial hemophagocytic lymphohistiocytosis85
HP:0001933HP:0031365Macular purpura2STXBP2 CL E G H681311445ORPHA:540Familial hemophagocytic lymphohistiocytosis70
HP:0001933HP:0031365Macular purpura2TBL1XR1 CL E G H7971829529ORPHA:520Acute promyelocytic leukemia22
HP:0001933HP:0031365Macular purpura2TBXA2R CL E G H691511608OMIM:614009BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO; BDPLT1310
HP:0001933HP:0031365Macular purpura2TERC CL E G H701211727ORPHA:88Idiopathic aplastic anemia48
HP:0001933HP:0031365Macular purpura2TERT CL E G H701511730ORPHA:88Idiopathic aplastic anemia238
HP:0001933HP:0031365Macular purpura2TET2 CL E G H5479025941ORPHA:824Primary myelofibrosis3
HP:0001933HP:0031365Macular purpura2TP53 CL E G H715711998ORPHA:96253Cushing disease911
HP:0001933HP:0031365Macular purpura2TREX1 CL E G H1127712269OMIM:225750Aicardi-Goutieres syndrome 156
HP:0001933HP:0031365Macular purpura2UNC13D CL E G H20129423147ORPHA:540Familial hemophagocytic lymphohistiocytosis116
HP:0001933HP:0031365Macular purpura2USP18 CL E G H1127412616OMIM:617397Pseudo-Torch syndrome 22
HP:0001933HP:0031365Macular purpura2USP48 CL E G H8419618533ORPHA:96253Cushing disease1
HP:0001933HP:0031365Macular purpura2USP8 CL E G H910112631ORPHA:96253Cushing disease7
HP:0001933HP:0031365Macular purpura2USP8 CL E G H910112631OMIM:219090Pituitary adenoma 4, ACTH-secreting, somatic7
HP:0001933HP:0031365Macular purpura2WAS CL E G H745412731OMIM:313900Thrombocytopenia 165
HP:0001933HP:0031365Macular purpura2WAS CL E G H745412731OMIM:301000Wiskott-Aldrich syndrome65
HP:0001933HP:0031365Macular purpura2WAS CL E G H745412731ORPHA:906Wiskott-Aldrich syndrome65
HP:0001933HP:0031365Macular purpura2WIPF1 CL E G H745612736ORPHA:906Wiskott-Aldrich syndrome6
HP:0001933HP:0031365Macular purpura2ZBTB16 CL E G H770412930ORPHA:520Acute promyelocytic leukemia1
HP:0001933HP:0031364Ecchymosis3AIP CL E G H9049358OMIM:219090Pituitary adenoma 4, ACTH-secreting, somatic.95
HP:0001933HP:0000967Petechiae3APOE CL E G H348613ORPHA:158029Sea-blue histiocytosisHP:0040281 - Very frequent39
HP:0001933HP:0031364Ecchymosis3ATRX CL E G H546886ORPHA:96253Cushing disease169
HP:0001933HP:0031364Ecchymosis3BCOR CL E G H5488020893ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent101
HP:0001933HP:0000967Petechiae3BCOR CL E G H5488020893ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent101
HP:0001933HP:0031364Ecchymosis3BRAF CL E G H6731097ORPHA:96253Cushing disease276
HP:0001933HP:0000967Petechiae3CALR CL E G H8111455ORPHA:824Primary myelofibrosisHP:0040283 - Occasional1
HP:0001933HP:0031364Ecchymosis3CALR CL E G H8111455ORPHA:824Primary myelofibrosisHP:0040283 - Occasional1
HP:0001933HP:0000967Petechiae3CASP10 CL E G H8431500OMIM:603909Autoimmune lymphoproliferative syndrome, type IIA87
HP:0001933HP:0000967Petechiae3CD109 CL E G H13522821685ORPHA:853Fetal and neonatal alloimmune thrombocytopeniaHP:0040282 - Frequent
HP:0001933HP:0031364Ecchymosis3CD109 CL E G H13522821685ORPHA:853Fetal and neonatal alloimmune thrombocytopeniaHP:0040283 - Occasional
HP:0001933HP:0031364Ecchymosis3CDH23 CL E G H6407213733ORPHA:96253Cushing disease636
HP:0001933HP:0031364Ecchymosis3CHST14 CL E G H11318924464OMIM:601776Ehlers-Danlos syndrome, musculocontractural type 1.27
HP:0001933HP:0000967Petechiae3CLCN7 CL E G H11862025OMIM:611490Osteopetrosis, autosomal recessive 4.102
HP:0001933HP:0031364Ecchymosis3COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndromeHP:0040283 - Occasional373
HP:0001933HP:0031364Ecchymosis3COL3A1 CL E G H12812201OMIM:130050Ehlers-Danlos syndrome, Vascular type749
HP:0001933HP:0031364Ecchymosis3COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndromeHP:0040283 - Occasional660
HP:0001933HP:0031364Ecchymosis3COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndromeHP:0040283 - Occasional325
HP:0001933HP:0000967Petechiae3ETHE1 CL E G H2347423287OMIM:602473Encephalopathy, ethylmalonic.42
HP:0001933HP:0000967Petechiae3ETHE1 CL E G H2347423287ORPHA:51188Ethylmalonic encephalopathyHP:0040282 - Frequent42
HP:0001933HP:0000967Petechiae3ETV6 CL E G H21203495OMIM:616216Thrombocytopenia 5.13
HP:0001933HP:0031364Ecchymosis3F13A1 CL E G H21623531ORPHA:331Congenital factor XIII deficiencyHP:0040283 - Occasional60
HP:0001933HP:0031364Ecchymosis3F13A1 CL E G H21623531OMIM:613225Factor XIII, A subunit, deficiency of.60
HP:0001933HP:0031364Ecchymosis3F13B CL E G H21653534ORPHA:331Congenital factor XIII deficiencyHP:0040283 - Occasional32
HP:0001933HP:0031364Ecchymosis3F13B CL E G H21653534OMIM:613235Factor XIIIB deficiency.32
HP:0001933HP:0031364Ecchymosis3F2 CL E G H21473535OMIM:613679Congenital prothrombin deficiency.44
HP:0001933HP:0000967Petechiae3FCGR2C CL E G H910315626ORPHA:3002Immune thrombocytopeniaHP:0040282 - Frequent
HP:0001933HP:0000967Petechiae3FERMT3 CL E G H8370623151OMIM:612840Leukocyte adhesion deficiency, type III.23
HP:0001933HP:0031364Ecchymosis3FIP1L1 CL E G H8160819124ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent4
HP:0001933HP:0000967Petechiae3FIP1L1 CL E G H8160819124ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent4
HP:0001933HP:0000967Petechiae3FYB1 CL E G H25334036OMIM:273900THROMBOCYTOPENIA 3; THC34
HP:0001933HP:0000967Petechiae3GATA1 CL E G H26234170OMIM:314050Thrombocytopenia with beta-thalassemia, X-linked.29
HP:0001933HP:0000967Petechiae3GATA1 CL E G H26234170OMIM:300367Thrombocytopenia, X-linked, with or without dyserythropoietic anemia.29
HP:0001933HP:0000967Petechiae3GBA1 CL E G H26294177OMIM:608013Gaucher disease, perinatal lethal.
HP:0001933HP:0031364Ecchymosis3GBA1 CL E G H26294177ORPHA:2072Gaucher disease-ophthalmoplegia-cardiovascular calcification syndromeHP:0040284 - Very rare
HP:0001933HP:0031364Ecchymosis3GFI1B CL E G H83284238OMIM:187900Bleeding disorder, platelet-type, 17.3
HP:0001933HP:0000967Petechiae3GFI1B CL E G H83284238OMIM:187900Bleeding disorder, platelet-type, 17.3
HP:0001933HP:0031364Ecchymosis3GGCX CL E G H26774247OMIM:277450VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1.129
HP:0001933HP:0000967Petechiae3GIMAP5 CL E G H5534018005OMIM:619463PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0001933HP:0031364Ecchymosis3GIMAP5 CL E G H5534018005OMIM:619463PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0001933HP:0000967Petechiae3GNA14 CL E G H96304382ORPHA:1063Tufted angiomaHP:0040283 - Occasional
HP:0001933HP:0000967Petechiae3GP1BA CL E G H28114439ORPHA:274Bernard-Soulier syndromeHP:0040282 - Frequent23
HP:0001933HP:0000967Petechiae3GP1BA CL E G H28114439OMIM:153670Bernard-Soulier syndrome, type A2, autosomal dominant.23
HP:0001933HP:0031364Ecchymosis3GP1BA CL E G H28114439OMIM:153670Bernard-Soulier syndrome, type A2, autosomal dominant.23
HP:0001933HP:0031364Ecchymosis3GP1BA CL E G H28114439ORPHA:853Fetal and neonatal alloimmune thrombocytopeniaHP:0040283 - Occasional23
HP:0001933HP:0000967Petechiae3GP1BA CL E G H28114439ORPHA:853Fetal and neonatal alloimmune thrombocytopeniaHP:0040282 - Frequent23
HP:0001933HP:0000967Petechiae3GP1BB CL E G H28124440ORPHA:274Bernard-Soulier syndromeHP:0040282 - Frequent8
HP:0001933HP:0031364Ecchymosis3GP1BB CL E G H28124440ORPHA:853Fetal and neonatal alloimmune thrombocytopeniaHP:0040283 - Occasional8
HP:0001933HP:0000967Petechiae3GP1BB CL E G H28124440ORPHA:853Fetal and neonatal alloimmune thrombocytopeniaHP:0040282 - Frequent8
HP:0001933HP:0031364Ecchymosis3GP6 CL E G H5120614388OMIM:614201Bleeding disorder, platelet-type, 11.24
HP:0001933HP:0000967Petechiae3GP9 CL E G H28154444ORPHA:274Bernard-Soulier syndromeHP:0040282 - Frequent21
HP:0001933HP:0000967Petechiae3HOXA11 CL E G H32075101OMIM:605432Radioulnar synostosis with amegakaryocytic thrombocytopenia.3
HP:0001933HP:0031364Ecchymosis3HPS1 CL E G H32575163OMIM:203300Hermansky-Pudlak syndrome 1121
HP:0001933HP:0031364Ecchymosis3HPS6 CL E G H7980318817OMIM:614075Hermansky-Pudlak syndrome 645
HP:0001933HP:0031364Ecchymosis3IFNG CL E G H34585438ORPHA:88Idiopathic aplastic anemiaHP:0040283 - Occasional23
HP:0001933HP:0031364Ecchymosis3IRF2BP2 CL E G H35994821729ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent4
HP:0001933HP:0000967Petechiae3IRF2BP2 CL E G H35994821729ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent4
HP:0001933HP:0031364Ecchymosis3ITGA2 CL E G H36736137ORPHA:853Fetal and neonatal alloimmune thrombocytopeniaHP:0040283 - Occasional119
HP:0001933HP:0000967Petechiae3ITGA2 CL E G H36736137ORPHA:853Fetal and neonatal alloimmune thrombocytopeniaHP:0040282 - Frequent119
HP:0001933HP:0000967Petechiae3ITGA2B CL E G H36746138OMIM:187800Bleeding disorder, platelet-type, 16.69
HP:0001933HP:0031364Ecchymosis3ITGA2B CL E G H36746138ORPHA:853Fetal and neonatal alloimmune thrombocytopeniaHP:0040283 - Occasional69
HP:0001933HP:0000967Petechiae3ITGA2B CL E G H36746138ORPHA:853Fetal and neonatal alloimmune thrombocytopeniaHP:0040282 - Frequent69
HP:0001933HP:0031364Ecchymosis3ITGA2B CL E G H36746138ORPHA:849Glanzmann thrombastheniaHP:0040283 - Occasional69
HP:0001933HP:0031364Ecchymosis3ITGA2B CL E G H36746138OMIM:273800Glanzmann thrombasthenia69
HP:0001933HP:0000967Petechiae3ITGB3 CL E G H36906156ORPHA:853Fetal and neonatal alloimmune thrombocytopeniaHP:0040282 - Frequent80
HP:0001933HP:0031364Ecchymosis3ITGB3 CL E G H36906156ORPHA:853Fetal and neonatal alloimmune thrombocytopeniaHP:0040283 - Occasional80
HP:0001933HP:0031364Ecchymosis3ITGB3 CL E G H36906156ORPHA:849Glanzmann thrombastheniaHP:0040283 - Occasional80
HP:0001933HP:0031364Ecchymosis3JAK2 CL E G H37176192ORPHA:824Primary myelofibrosisHP:0040283 - Occasional57
HP:0001933HP:0000967Petechiae3JAK2 CL E G H37176192ORPHA:824Primary myelofibrosisHP:0040283 - Occasional57
HP:0001933HP:0000967Petechiae3LCP2 CL E G H39376529OMIM:619374IMMUNODEFICIENCY 81; IMD81
HP:0001933HP:0031364Ecchymosis3MPL CL E G H43527217ORPHA:824Primary myelofibrosisHP:0040283 - Occasional97
HP:0001933HP:0000967Petechiae3MPL CL E G H43527217ORPHA:824Primary myelofibrosisHP:0040283 - Occasional97
HP:0001933HP:0031364Ecchymosis3NABP1 CL E G H6485926232ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent
HP:0001933HP:0000967Petechiae3NABP1 CL E G H6485926232ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent
HP:0001933HP:0000967Petechiae3NEU1 CL E G H47587758ORPHA:93400Congenital sialidosis type 2HP:0040283 - Occasional43
HP:0001933HP:0031364Ecchymosis3NPM1 CL E G H48697910ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent12
HP:0001933HP:0000967Petechiae3NPM1 CL E G H48697910ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent12
HP:0001933HP:0031364Ecchymosis3NR3C1 CL E G H29087978ORPHA:96253Cushing disease79
HP:0001933HP:0000967Petechiae3NUMA1 CL E G H49268059ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent
HP:0001933HP:0031364Ecchymosis3NUMA1 CL E G H49268059ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent
HP:0001933HP:0000967Petechiae3OCLN CL E G H1005066588104OMIM:251290Band-Like calcification with simplified gyration and polymicrogyria.23
HP:0001933HP:0031364Ecchymosis3P2RY12 CL E G H6480518124OMIM:609821Bleeding disorder, platelet-type, 8.5
HP:0001933HP:0000967Petechiae3PEPD CL E G H51848840OMIM:170100Prolidase deficiency66
HP:0001933HP:0000967Petechiae3PML CL E G H53719113ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent3
HP:0001933HP:0031364Ecchymosis3PML CL E G H53719113ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent3
HP:0001933HP:0000967Petechiae3PRF1 CL E G H55519360ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040282 - Frequent58
HP:0001933HP:0031364Ecchymosis3PRF1 CL E G H55519360ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040282 - Frequent58
HP:0001933HP:0031364Ecchymosis3PRF1 CL E G H55519360ORPHA:88Idiopathic aplastic anemiaHP:0040283 - Occasional58
HP:0001933HP:0000967Petechiae3PRKAR1A CL E G H55739388ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent134
HP:0001933HP:0031364Ecchymosis3PRKAR1A CL E G H55739388ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent134
HP:0001933HP:0000967Petechiae3RAB27A CL E G H58739766ORPHA:79477Griscelli syndrome type 2HP:0040283 - Occasional67
HP:0001933HP:0031364Ecchymosis3RARA CL E G H59149864ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent2
HP:0001933HP:0000967Petechiae3RARA CL E G H59149864ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent2
HP:0001933HP:0000967Petechiae3SAMD9 CL E G H548091348OMIM:617053Mirage syndrome.8
HP:0001933HP:0031364Ecchymosis3SBDS CL E G H5111919440ORPHA:88Idiopathic aplastic anemiaHP:0040283 - Occasional26
HP:0001933HP:0000967Petechiae3STAT3 CL E G H677411364ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent110
HP:0001933HP:0031364Ecchymosis3STAT3 CL E G H677411364ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent110
HP:0001933HP:0000967Petechiae3STAT5B CL E G H677711367ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent12
HP:0001933HP:0031364Ecchymosis3STAT5B CL E G H677711367ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent12
HP:0001933HP:0031364Ecchymosis3STX11 CL E G H867611429ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040282 - Frequent85
HP:0001933HP:0000967Petechiae3STX11 CL E G H867611429ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040282 - Frequent85
HP:0001933HP:0031364Ecchymosis3STXBP2 CL E G H681311445ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040282 - Frequent70
HP:0001933HP:0000967Petechiae3STXBP2 CL E G H681311445ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040282 - Frequent70
HP:0001933HP:0000967Petechiae3TBL1XR1 CL E G H7971829529ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent22
HP:0001933HP:0031364Ecchymosis3TBL1XR1 CL E G H7971829529ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent22
HP:0001933HP:0031364Ecchymosis3TBXA2R CL E G H691511608OMIM:614009BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO; BDPLT1310
HP:0001933HP:0031364Ecchymosis3TERC CL E G H701211727ORPHA:88Idiopathic aplastic anemiaHP:0040283 - Occasional48
HP:0001933HP:0031364Ecchymosis3TERT CL E G H701511730ORPHA:88Idiopathic aplastic anemiaHP:0040283 - Occasional238
HP:0001933HP:0000967Petechiae3TET2 CL E G H5479025941ORPHA:824Primary myelofibrosisHP:0040283 - Occasional3
HP:0001933HP:0031364Ecchymosis3TET2 CL E G H5479025941ORPHA:824Primary myelofibrosisHP:0040283 - Occasional3
HP:0001933HP:0031364Ecchymosis3TP53 CL E G H715711998ORPHA:96253Cushing disease911
HP:0001933HP:0000967Petechiae3TREX1 CL E G H1127712269OMIM:225750Aicardi-Goutieres syndrome 156
HP:0001933HP:0000967Petechiae3UNC13D CL E G H20129423147ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040282 - Frequent116
HP:0001933HP:0031364Ecchymosis3UNC13D CL E G H20129423147ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040282 - Frequent116
HP:0001933HP:0000967Petechiae3USP18 CL E G H1127412616OMIM:617397Pseudo-Torch syndrome 2.2
HP:0001933HP:0031364Ecchymosis3USP48 CL E G H8419618533ORPHA:96253Cushing disease1
HP:0001933HP:0031364Ecchymosis3USP8 CL E G H910112631ORPHA:96253Cushing disease7
HP:0001933HP:0031364Ecchymosis3USP8 CL E G H910112631OMIM:219090Pituitary adenoma 4, ACTH-secreting, somatic.7
HP:0001933HP:0000967Petechiae3WAS CL E G H745412731OMIM:313900Thrombocytopenia 1.65
HP:0001933HP:0000967Petechiae3WAS CL E G H745412731OMIM:301000Wiskott-Aldrich syndrome.65
HP:0001933HP:0000967Petechiae3WAS CL E G H745412731ORPHA:906Wiskott-Aldrich syndromeHP:0040282 - Frequent65
HP:0001933HP:0000967Petechiae3WIPF1 CL E G H745612736ORPHA:906Wiskott-Aldrich syndromeHP:0040282 - Frequent6
HP:0001933HP:0031364Ecchymosis3ZBTB16 CL E G H770412930ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent1
HP:0001933HP:0000967Petechiae3ZBTB16 CL E G H770412930ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent1


Genes (237) :ABCC6 ACP5 ACTA2 ACVRL1 ADA2 ADAMTS2 AEBP1 AIP ANKRD26 APOE ARL6IP6 ARMC5 ARVCF ATP7A ATP7B ATRX B3GALT6 BCOR BLOC1S3 BLOC1S5 BRAF C1R C1S C2 C4A CALR CASP10 CBS CD109 CD19 CD81 CDH23 CFH CFHR1 CFHR3 CHST14 CLCN7 COG8 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 COMT CR2 CREB3L1 CTLA4 DSE DTNBP1 ELN EMILIN1 ENG ENPP1 EPHB2 ETHE1 ETV6 F10 F13A1 F13B F2 F5 F7 F8 FANCA FANCC FANCD2 FANCE FAS FASLG FBN1 FCGR2C FERMT3 FGA FGB FGG FIP1L1 FKBP14 FLNA FOXE3 FYB1 GATA1 GATA2 GBA1 GDF2 GFI1B GGCX GIMAP5 GNA11 GNA14 GNAS GP1BA GP1BB GP6 GP9 GSN HBA1 HBA2 HEY2 HIRA HLA-DPA1 HLA-DPB1 HOXA11 HPS1 HPS3 HPS4 HPS5 HPS6 ICOS IFNG IPO8 IRF2BP2 ITGA2 ITGA2B ITGB3 JAK2 JAM2 JMJD1C KRAS LCP2 LMAN1 LOX LYST MAP2K1 MAPK1 MAT2A MCFD2 MFAP5 MPL MS4A1 MTAP MVK MYD88 MYH11 MYH9 MYLK MYORG NABP1 NBEAL2 NEU1 NFIX NFKB1 NFKB2 NLRP3 NPM1 NR3C1 NTRK1 NUMA1 OCLN ORAI1 P2RY12 PDE11A PDE8B PDGFB PDGFRB PEPD PLAU PLEC PLOD1 PLOD3 PML PRDM5 PRF1 PRKACA PRKACG PRKAR1A PRKCD PRKG1 PROC PROS1 PRTN3 PTEN PTPN11 PTPN22 PYCR1 RAB27A RARA RASGRP1 RIN2 RREB1 RUNX1 SAMD9 SBDS SCARB2 SEC24C SERPINE1 SERPINF2 SH2B3 SIK3 SLC20A2 SLC2A10 SLC35A1 SLC37A4 SLC39A13 SLC51A SLFN14 SMAD2 SMAD3 SMAD4 SNX10 SOS1 SPRED2 STAT3 STAT5B STIM1 STX11 STXBP2 TBL1XR1 TBX1 TBXA2R TCIRG1 TERC TERT TET2 TFR2 TGFB2 TGFB3 TGFBR1 TGFBR2 TNFRSF13B TNFRSF13C TNFRSF1A TNFSF11 TNFSF12 TNXB TP53 TREX1 UFD1 UNC13D USP18 USP48 USP8 VWF WAS WIPF1 XPR1 ZBTB16 ZNF469

Diseases (198) :ORPHA:758 OMIM:607944 ORPHA:91387 ORPHA:774 OMIM:615688 OMIM:225410 ORPHA:536532 OMIM:618000 OMIM:219090 OMIM:188000 ORPHA:158029 ORPHA:1556 ORPHA:189427 ORPHA:567 ORPHA:565 OMIM:304150 ORPHA:198 ORPHA:905 ORPHA:231401 ORPHA:96253 ORPHA:536467 ORPHA:520 OMIM:614077 OMIM:619172 OMIM:163950 OMIM:130080 OMIM:617174 OMIM:217000 OMIM:614380 OMIM:254450 ORPHA:824 ORPHA:3261 OMIM:603909 ORPHA:394 ORPHA:853 ORPHA:1572 OMIM:613496 OMIM:235400 OMIM:601776 ORPHA:2953 ORPHA:667 OMIM:611490 ORPHA:95428 ORPHA:287 OMIM:619115 OMIM:130060 OMIM:166200 ORPHA:230851 OMIM:619120 OMIM:617821 OMIM:225320 OMIM:130050 OMIM:618343 ORPHA:286 OMIM:130000 OMIM:130010 OMIM:616229 ORPHA:900 OMIM:614076 OMIM:620080 OMIM:618462 OMIM:602473 ORPHA:51188 OMIM:616216 ORPHA:328 ORPHA:331 OMIM:613225 OMIM:613235 OMIM:613679 ORPHA:326 OMIM:227400 ORPHA:327 ORPHA:177926 OMIM:306700 ORPHA:169805 ORPHA:169802 OMIM:227650 OMIM:227645 OMIM:227646 OMIM:600901 OMIM:616914 ORPHA:3002 OMIM:612840 OMIM:202400 OMIM:614557 ORPHA:300179 ORPHA:75497 OMIM:273900 OMIM:314050 OMIM:300367 ORPHA:3226 ORPHA:77259 OMIM:608013 ORPHA:2072 OMIM:187900 OMIM:277450 OMIM:619463 ORPHA:1063 OMIM:219080 ORPHA:274 OMIM:153670 OMIM:231200 OMIM:614201 ORPHA:85448 ORPHA:98791 OMIM:605432 OMIM:203300 OMIM:614072 OMIM:614073 OMIM:614074 OMIM:614075 ORPHA:88 ORPHA:60030 OMIM:619472 OMIM:187800 ORPHA:849 OMIM:273800 OMIM:619267 ORPHA:729 ORPHA:1980 OMIM:609942 OMIM:619374 ORPHA:35909 ORPHA:352723 ORPHA:167 OMIM:214500 OMIM:619087 OMIM:112250 ORPHA:343 ORPHA:33226 OMIM:155100 ORPHA:182050 OMIM:139090 ORPHA:721 ORPHA:93400 ORPHA:561 ORPHA:1451 ORPHA:642 OMIM:251290 ORPHA:3204 OMIM:609821 ORPHA:1359 OMIM:610475 ORPHA:189439 OMIM:170100 OMIM:601709 OMIM:131950 OMIM:225400 ORPHA:1900 OMIM:612394 ORPHA:90354 ORPHA:540 OMIM:615830 OMIM:616176 OMIM:610489 ORPHA:745 OMIM:612304 ORPHA:743 OMIM:614514 OMIM:612336 ORPHA:109 OMIM:612940 ORPHA:79477 OMIM:613075 ORPHA:217335 OMIM:601399 OMIM:617053 ORPHA:465 ORPHA:79 OMIM:262850 OMIM:618162 OMIM:208050 OMIM:603585 ORPHA:238459 ORPHA:79259 OMIM:612350 ORPHA:157965 OMIM:619484 OMIM:616913 ORPHA:284984 OMIM:613795 OMIM:610733 OMIM:619745 OMIM:614009 OMIM:604250 OMIM:614816 OMIM:615582 ORPHA:32960 ORPHA:230839 OMIM:606408 OMIM:225750 OMIM:617397 OMIM:193400 OMIM:613554 OMIM:277480 OMIM:313900 OMIM:301000 ORPHA:906
 

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