Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | ABCC6 CL E G H | 368 | 57 | ORPHA:758 | Pseudoxanthoma elasticum | | | | 415 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | ACP5 CL E G H | 54 | 124 | OMIM:607944 | Spondyloenchondrodysplasia with immune dysregulation | | | | 16 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | ACTA2 CL E G H | 59 | 130 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | | | | 94 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | ACVRL1 CL E G H | 94 | 175 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | | | | 178 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | ADA2 CL E G H | 51816 | 1839 | OMIM:615688 | Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome | | | | 22 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | ADAMTS2 CL E G H | 9509 | 218 | OMIM:225410 | Ehlers-Danlos syndrome, type VII, autosomal recessive | | | | 165 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | AEBP1 CL E G H | 165 | 303 | ORPHA:536532 | Classical-like Ehlers-Danlos syndrome type 2 | | | | | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | AEBP1 CL E G H | 165 | 303 | OMIM:618000 | Ehlers-Danlos syndrome, classic-like, 2 | | | | | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | AIP CL E G H | 9049 | 358 | OMIM:219090 | Pituitary adenoma 4, ACTH-secreting, somatic | | | | 95 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | ANKRD26 CL E G H | 22852 | 29186 | OMIM:188000 | THROMBOCYTOPENIA 2; THC2 | | | | 106 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | APOE CL E G H | 348 | 613 | ORPHA:158029 | Sea-blue histiocytosis | | | | 39 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | ARL6IP6 CL E G H | 151188 | 24048 | ORPHA:1556 | Cutis marmorata telangiectatica congenita | HP:0040281 - Very frequent | | | 1 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | ARMC5 CL E G H | 79798 | 25781 | ORPHA:189427 | Cushing syndrome due to macronodular adrenal hyperplasia | | | | 7 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 1 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | ATP7A CL E G H | 538 | 869 | ORPHA:565 | Menkes disease | | | | 192 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | ATP7A CL E G H | 538 | 869 | OMIM:304150 | Occipital horn syndrome | | | | 192 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | ATP7A CL E G H | 538 | 869 | ORPHA:198 | Occipital horn syndrome | | | | 192 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | ATP7B CL E G H | 540 | 870 | ORPHA:905 | Wilson disease | | | | 315 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | ATRX CL E G H | 546 | 886 | ORPHA:231401 | Alpha-thalassemia-myelodysplastic syndrome | | | | 169 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | ATRX CL E G H | 546 | 886 | ORPHA:96253 | Cushing disease | | | | 169 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | B3GALT6 CL E G H | 126792 | 17978 | ORPHA:536467 | B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome | | | | 38 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | BCOR CL E G H | 54880 | 20893 | ORPHA:520 | Acute promyelocytic leukemia | | | | 101 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | BLOC1S3 CL E G H | 388552 | 20914 | OMIM:614077 | Hermansky-Pudlak syndrome 8 | | | | 42 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | BLOC1S5 CL E G H | 63915 | 18561 | OMIM:619172 | HERMANSKY-PUDLAK SYNDROME 11; HPS11 | | | | | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:96253 | Cushing disease | | | | 276 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | BRAF CL E G H | 673 | 1097 | OMIM:163950 | Noonan syndrome 1 | | | | 276 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | C1R CL E G H | 715 | 1246 | OMIM:130080 | Ehlers-Danlos syndrome, periodontal type, 1 | | | | 15 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | C1S CL E G H | 716 | 1247 | OMIM:617174 | Ehlers-Danlos syndrome, periodontal type, 2 | | | | 7 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | C2 CL E G H | 717 | 1248 | OMIM:217000 | Complement component 2 deficiency | | | | 23 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | C4A CL E G H | 720 | 1323 | OMIM:614380 | Complement component 4A deficiency | | | | 1 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | CALR CL E G H | 811 | 1455 | OMIM:254450 | Myelofibrosismyelofibrosis with myeloid metaplasia, included | | | | 1 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | CALR CL E G H | 811 | 1455 | ORPHA:824 | Primary myelofibrosis | | | | 1 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 87 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | CASP10 CL E G H | 843 | 1500 | OMIM:603909 | Autoimmune lymphoproliferative syndrome, type IIA | | | | 87 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | CBS CL E G H | 875 | 1550 | ORPHA:394 | Classic homocystinuria | HP:0040283 - Occasional | | | 242 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | CD109 CL E G H | 135228 | 21685 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | | | | | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | CD19 CL E G H | 930 | 1633 | ORPHA:1572 | Common variable immunodeficiency | | | | 38 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | CD81 CL E G H | 975 | 1701 | ORPHA:1572 | Common variable immunodeficiency | | | | 1 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | CD81 CL E G H | 975 | 1701 | OMIM:613496 | Immunodeficiency, common variable, 6 | | | | 1 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:96253 | Cushing disease | | | | 636 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | CFH CL E G H | 3075 | 4883 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | | | | 86 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | CFHR1 CL E G H | 3078 | 4888 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | | | | | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | CFHR3 CL E G H | 10878 | 16980 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | | | | | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | CHST14 CL E G H | 113189 | 24464 | OMIM:601776 | Ehlers-Danlos syndrome, musculocontractural type 1 | | | | 27 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | CHST14 CL E G H | 113189 | 24464 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 27 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | CLCN7 CL E G H | 1186 | 2025 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | | | | 102 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | CLCN7 CL E G H | 1186 | 2025 | OMIM:611490 | Osteopetrosis, autosomal recessive 4 | | | | 102 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | COG8 CL E G H | 84342 | 18623 | ORPHA:95428 | COG8-CDG | | | | 39 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | COL1A1 CL E G H | 1277 | 2197 | ORPHA:287 | Classical Ehlers-Danlos syndrome | | | | 373 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | COL1A1 CL E G H | 1277 | 2197 | OMIM:619115 | COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1 | | | | 373 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | COL1A1 CL E G H | 1277 | 2197 | OMIM:130060 | Ehlers-Danlos syndrome, arthrochalasia type, 1 | | | | 373 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | COL1A1 CL E G H | 1277 | 2197 | OMIM:166200 | Osteogenesis imperfecta, type I | | | | 373 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | COL1A2 CL E G H | 1278 | 2198 | ORPHA:230851 | Cardiac-valvular Ehlers-Danlos syndrome | | | | 243 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | COL1A2 CL E G H | 1278 | 2198 | OMIM:619120 | COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2; OIEDS2 | | | | 243 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | COL1A2 CL E G H | 1278 | 2198 | OMIM:617821 | Ehlers-Danlos syndrome, arthrochalasia type, 2 | | | | 243 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | COL1A2 CL E G H | 1278 | 2198 | OMIM:225320 | Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form | | | | 243 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | COL3A1 CL E G H | 1281 | 2201 | OMIM:130050 | Ehlers-Danlos syndrome, Vascular type | | | | 749 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | COL3A1 CL E G H | 1281 | 2201 | OMIM:618343 | Polymicrogyria with or without vascular-type ehlers-danlos syndrome | | | | 749 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | COL3A1 CL E G H | 1281 | 2201 | ORPHA:286 | Vascular Ehlers-Danlos syndrome | | | | 749 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | COL5A1 CL E G H | 1289 | 2209 | ORPHA:287 | Classical Ehlers-Danlos syndrome | | | | 660 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | COL5A1 CL E G H | 1289 | 2209 | OMIM:130000 | Ehlers-danlos syndrome, type I | | | | 660 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | COL5A2 CL E G H | 1290 | 2210 | ORPHA:287 | Classical Ehlers-Danlos syndrome | | | | 325 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | COL5A2 CL E G H | 1290 | 2210 | OMIM:130010 | Ehlers-Danlos syndrome, classic type, 2 | | | | 325 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 6 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | CR2 CL E G H | 1380 | 2336 | ORPHA:1572 | Common variable immunodeficiency | | | | 10 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | CREB3L1 CL E G H | 90993 | 18856 | OMIM:616229 | Osteogenesis imperfecta, type XVI | | | | 4 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | CTLA4 CL E G H | 1493 | 2505 | ORPHA:900 | Granulomatosis with polyangiitis | | | | 10 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | DSE CL E G H | 29940 | 21144 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 13 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | DTNBP1 CL E G H | 84062 | 17328 | OMIM:614076 | Hermansky-Pudlak syndrome 7 | | | | 46 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | | | | 172 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | EMILIN1 CL E G H | 11117 | 19880 | OMIM:620080 | | | | | 2 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | ENG CL E G H | 2022 | 3349 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | | | | 186 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | ENPP1 CL E G H | 5167 | 3356 | ORPHA:758 | Pseudoxanthoma elasticum | | | | 151 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | EPHB2 CL E G H | 2048 | 3393 | OMIM:618462 | Bleeding disorder, platelet-type, 22 | | | | 7 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | ETHE1 CL E G H | 23474 | 23287 | OMIM:602473 | Encephalopathy, ethylmalonic | | | | 42 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | ETHE1 CL E G H | 23474 | 23287 | ORPHA:51188 | Ethylmalonic encephalopathy | | | | 42 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | ETV6 CL E G H | 2120 | 3495 | OMIM:616216 | Thrombocytopenia 5 | | | | 13 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | F10 CL E G H | 2159 | 3528 | ORPHA:328 | Congenital factor X deficiency | | | | 33 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | F13A1 CL E G H | 2162 | 3531 | ORPHA:331 | Congenital factor XIII deficiency | HP:0040282 - Frequent | | | 60 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | F13A1 CL E G H | 2162 | 3531 | OMIM:613225 | Factor XIII, A subunit, deficiency of | | | | 60 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | F13B CL E G H | 2165 | 3534 | ORPHA:331 | Congenital factor XIII deficiency | HP:0040282 - Frequent | | | 32 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | F13B CL E G H | 2165 | 3534 | OMIM:613235 | Factor XIIIB deficiency | | | | 32 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | F2 CL E G H | 2147 | 3535 | OMIM:613679 | Congenital prothrombin deficiency | | | | 44 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | F5 CL E G H | 2153 | 3542 | ORPHA:326 | Congenital factor V deficiency | | | | 159 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | F5 CL E G H | 2153 | 3542 | OMIM:227400 | Factor V deficiency | | | | 159 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | F7 CL E G H | 2155 | 3544 | ORPHA:327 | Congenital factor VII deficiency | | | | 70 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | F8 CL E G H | 2157 | 3546 | ORPHA:177926 | Bleeding disorder in hemophilia A carriers without FVIII deficiency | | | | 303 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | F8 CL E G H | 2157 | 3546 | OMIM:306700 | Hemophilia A | | | | 303 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | F8 CL E G H | 2157 | 3546 | ORPHA:169805 | Moderate hemophilia A | HP:0040282 - Frequent | | | 303 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | F8 CL E G H | 2157 | 3546 | ORPHA:169802 | Severe hemophilia A | | | | 303 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | FANCA CL E G H | 2175 | 3582 | OMIM:227650 | Fanconi anemia | | | | 340 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | FANCC CL E G H | 2176 | 3584 | OMIM:227645 | Fanconi anemia, complementation group C | | | | 410 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | FANCD2 CL E G H | 2177 | 3585 | OMIM:227646 | Fanconi anemia, complementation group D2 | | | | 147 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | FANCE CL E G H | 2178 | 3586 | OMIM:600901 | Fanconi anemia, complementation group E | | | | 73 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 59 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 37 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | | | | 1361 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:616914 | Marfan lipodystrophy syndrome | | | | 1361 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | FCGR2C CL E G H | 9103 | 15626 | ORPHA:3002 | Immune thrombocytopenia | | | | | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | FERMT3 CL E G H | 83706 | 23151 | OMIM:612840 | Leukocyte adhesion deficiency, type III | | | | 23 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | FGA CL E G H | 2243 | 3661 | OMIM:202400 | Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included | | | | 47 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | FGB CL E G H | 2244 | 3662 | OMIM:202400 | Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included | | | | 62 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | FGG CL E G H | 2266 | 3694 | OMIM:202400 | Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included | | | | 34 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | FIP1L1 CL E G H | 81608 | 19124 | ORPHA:520 | Acute promyelocytic leukemia | | | | 4 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | FKBP14 CL E G H | 55033 | 18625 | OMIM:614557 | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 | | | | 13 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | FKBP14 CL E G H | 55033 | 18625 | ORPHA:300179 | Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency | | | | 13 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:75497 | X-linked Ehlers-Danlos syndrome | | | | 493 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | FOXE3 CL E G H | 2301 | 3808 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | | | | 23 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | FYB1 CL E G H | 2533 | 4036 | OMIM:273900 | THROMBOCYTOPENIA 3; THC3 | | | | 4 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | GATA1 CL E G H | 2623 | 4170 | OMIM:314050 | Thrombocytopenia with beta-thalassemia, X-linked | | | | 29 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | GATA1 CL E G H | 2623 | 4170 | OMIM:300367 | Thrombocytopenia, X-linked, with or without dyserythropoietic anemia | | | | 29 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | GATA2 CL E G H | 2624 | 4171 | ORPHA:3226 | Deafness-lymphedema-leukemia syndrome | | | | 137 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:77259 | Gaucher disease type 1 | | | | | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:608013 | Gaucher disease, perinatal lethal | | | | | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:2072 | Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | | | | | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | GDF2 CL E G H | 2658 | 4217 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | | | | 8 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | GFI1B CL E G H | 8328 | 4238 | OMIM:187900 | Bleeding disorder, platelet-type, 17 | | | | 3 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | GGCX CL E G H | 2677 | 4247 | OMIM:277450 | VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1 | | | | 129 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | GIMAP5 CL E G H | 55340 | 18005 | OMIM:619463 | PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2 | | | | | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | GNA11 CL E G H | 2767 | 4379 | ORPHA:1556 | Cutis marmorata telangiectatica congenita | HP:0040281 - Very frequent | | | 16 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | GNA14 CL E G H | 9630 | 4382 | ORPHA:1063 | Tufted angioma | | | | | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:219080 | ACTH-independent macronodular adrenal hyperplasia | | | | 101 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:189427 | Cushing syndrome due to macronodular adrenal hyperplasia | | | | 101 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | GP1BA CL E G H | 2811 | 4439 | ORPHA:274 | Bernard-Soulier syndrome | | | | 23 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | GP1BA CL E G H | 2811 | 4439 | OMIM:153670 | Bernard-Soulier syndrome, type A2, autosomal dominant | | | | 23 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | GP1BA CL E G H | 2811 | 4439 | OMIM:231200 | BERNARD-SOULIER SYNDROME; BSS | | | | 23 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | GP1BA CL E G H | 2811 | 4439 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | | | | 23 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 8 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | GP1BB CL E G H | 2812 | 4440 | ORPHA:274 | Bernard-Soulier syndrome | | | | 8 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | GP1BB CL E G H | 2812 | 4440 | OMIM:231200 | BERNARD-SOULIER SYNDROME; BSS | | | | 8 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | GP1BB CL E G H | 2812 | 4440 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | | | | 8 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | GP6 CL E G H | 51206 | 14388 | OMIM:614201 | Bleeding disorder, platelet-type, 11 | | | | 24 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | GP9 CL E G H | 2815 | 4444 | ORPHA:274 | Bernard-Soulier syndrome | | | | 21 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | GP9 CL E G H | 2815 | 4444 | OMIM:231200 | BERNARD-SOULIER SYNDROME; BSS | | | | 21 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | GSN CL E G H | 2934 | 4620 | ORPHA:85448 | AGel amyloidosis | | | | 53 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | HBA1 CL E G H | 3039 | 4823 | ORPHA:98791 | Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 | | | | 200 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | HBA2 CL E G H | 3040 | 4824 | ORPHA:98791 | Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 | | | | 88 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | HEY2 CL E G H | 23493 | 4881 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | | | | | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 3 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | HLA-DPA1 CL E G H | 3113 | 4938 | ORPHA:900 | Granulomatosis with polyangiitis | | | | | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | HLA-DPB1 CL E G H | 3115 | 4940 | ORPHA:900 | Granulomatosis with polyangiitis | | | | 1 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | HOXA11 CL E G H | 3207 | 5101 | OMIM:605432 | Radioulnar synostosis with amegakaryocytic thrombocytopenia | | | | 3 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | HPS1 CL E G H | 3257 | 5163 | OMIM:203300 | Hermansky-Pudlak syndrome 1 | | | | 121 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | HPS3 CL E G H | 84343 | 15597 | OMIM:614072 | Hermansky-Pudlak syndrome 3 | | | | 67 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | HPS4 CL E G H | 89781 | 15844 | OMIM:614073 | Hermansky-Pudlak syndrome 4 | | | | 123 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | HPS5 CL E G H | 11234 | 17022 | OMIM:614074 | Hermansky-Pudlak syndrome 5 | | | | 105 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | HPS6 CL E G H | 79803 | 18817 | OMIM:614075 | Hermansky-Pudlak syndrome 6 | | | | 45 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | ICOS CL E G H | 29851 | 5351 | ORPHA:1572 | Common variable immunodeficiency | | | | 32 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | IFNG CL E G H | 3458 | 5438 | ORPHA:88 | Idiopathic aplastic anemia | | | | 23 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | IPO8 CL E G H | 10526 | 9853 | ORPHA:60030 | Loeys-Dietz syndrome | | | | | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | IRF2BP2 CL E G H | 359948 | 21729 | ORPHA:520 | Acute promyelocytic leukemia | | | | 4 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | IRF2BP2 CL E G H | 359948 | 21729 | ORPHA:1572 | Common variable immunodeficiency | | | | 4 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | ITGA2 CL E G H | 3673 | 6137 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | | | | 119 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | ITGA2B CL E G H | 3674 | 6138 | OMIM:187800 | Bleeding disorder, platelet-type, 16 | | | | 69 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | ITGA2B CL E G H | 3674 | 6138 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | | | | 69 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | ITGA2B CL E G H | 3674 | 6138 | ORPHA:849 | Glanzmann thrombasthenia | | | | 69 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | ITGA2B CL E G H | 3674 | 6138 | OMIM:273800 | Glanzmann thrombasthenia | | | | 69 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | ITGB3 CL E G H | 3690 | 6156 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | | | | 80 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | ITGB3 CL E G H | 3690 | 6156 | ORPHA:849 | Glanzmann thrombasthenia | | | | 80 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | ITGB3 CL E G H | 3690 | 6156 | OMIM:619267 | GLANZMANN THROMBASTHENIA 2; GT2 | | | | 80 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | JAK2 CL E G H | 3717 | 6192 | OMIM:254450 | Myelofibrosismyelofibrosis with myeloid metaplasia, included | | | | 57 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | JAK2 CL E G H | 3717 | 6192 | ORPHA:729 | Polycythemia vera | | | | 57 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | JAK2 CL E G H | 3717 | 6192 | ORPHA:824 | Primary myelofibrosis | | | | 57 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | JAM2 CL E G H | 58494 | 14686 | ORPHA:1980 | Bilateral striopallidodentate calcinosis | HP:0040281 - Very frequent | | | | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 2 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | KRAS CL E G H | 3845 | 6407 | OMIM:609942 | Noonan syndrome 3 | | | | 196 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | LCP2 CL E G H | 3937 | 6529 | OMIM:619374 | IMMUNODEFICIENCY 81; IMD81 | | | | | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | LMAN1 CL E G H | 3998 | 6631 | ORPHA:35909 | Combined deficiency of factor V and factor VIII | | | | 56 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | LOX CL E G H | 4015 | 6664 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | | | | 6 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | LYST CL E G H | 1130 | 1968 | ORPHA:352723 | Attenuated Chédiak-Higashi syndrome | | | | 239 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | LYST CL E G H | 1130 | 1968 | ORPHA:167 | Chédiak-Higashi syndrome | | | | 239 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | LYST CL E G H | 1130 | 1968 | OMIM:214500 | Chediak-Higashi syndrome | | | | 239 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | MAP2K1 CL E G H | 5604 | 6840 | OMIM:163950 | Noonan syndrome 1 | | | | 134 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | MAPK1 CL E G H | 5594 | 6871 | OMIM:619087 | NOONAN SYNDROME 13; NS13 | | | | 2 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | MAT2A CL E G H | 4144 | 6904 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | | | | 13 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | MCFD2 CL E G H | 90411 | 18451 | ORPHA:35909 | Combined deficiency of factor V and factor VIII | | | | 77 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | MFAP5 CL E G H | 8076 | 29673 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | | | | 11 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | MPL CL E G H | 4352 | 7217 | OMIM:254450 | Myelofibrosismyelofibrosis with myeloid metaplasia, included | | | | 97 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | MPL CL E G H | 4352 | 7217 | ORPHA:729 | Polycythemia vera | | | | 97 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | MPL CL E G H | 4352 | 7217 | ORPHA:824 | Primary myelofibrosis | | | | 97 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | MS4A1 CL E G H | 931 | 7315 | ORPHA:1572 | Common variable immunodeficiency | | | | 1 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | MTAP CL E G H | 4507 | 7413 | OMIM:112250 | Diaphyseal medullary stenosis with malignant fibrous histiocytoma | | | | 85 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | MVK CL E G H | 4598 | 7530 | ORPHA:343 | Hyperimmunoglobulinemia D with periodic fever | | | | 150 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | MYD88 CL E G H | 4615 | 7562 | ORPHA:33226 | Waldenström macroglobulinemia | | | | 9 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | MYH11 CL E G H | 4629 | 7569 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | | | | 418 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | MYH9 CL E G H | 4627 | 7579 | OMIM:155100 | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | | | | 297 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | MYH9 CL E G H | 4627 | 7579 | ORPHA:182050 | MYH9-related disease | | | | 297 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | MYLK CL E G H | 4638 | 7590 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | | | | 326 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | MYORG CL E G H | 57462 | 19918 | ORPHA:1980 | Bilateral striopallidodentate calcinosis | HP:0040281 - Very frequent | | | | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | NABP1 CL E G H | 64859 | 26232 | ORPHA:520 | Acute promyelocytic leukemia | | | | | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | NBEAL2 CL E G H | 23218 | 31928 | OMIM:139090 | Gray platelet syndrome | | | | 127 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | NBEAL2 CL E G H | 23218 | 31928 | ORPHA:721 | Gray platelet syndrome | | | | 127 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | NEU1 CL E G H | 4758 | 7758 | ORPHA:93400 | Congenital sialidosis type 2 | | | | 43 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | NFIX CL E G H | 4784 | 7788 | ORPHA:561 | Marshall-Smith syndrome | | | | 40 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | NFKB1 CL E G H | 4790 | 7794 | ORPHA:1572 | Common variable immunodeficiency | | | | 7 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:1572 | Common variable immunodeficiency | | | | 11 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | NLRP3 CL E G H | 114548 | 16400 | ORPHA:1451 | CINCA syndrome | | | | 217 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | NPM1 CL E G H | 4869 | 7910 | ORPHA:520 | Acute promyelocytic leukemia | | | | 12 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | NR3C1 CL E G H | 2908 | 7978 | ORPHA:96253 | Cushing disease | | | | 79 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | NTRK1 CL E G H | 4914 | 8031 | ORPHA:642 | Hereditary sensory and autonomic neuropathy type 4 | | | | 97 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | NUMA1 CL E G H | 4926 | 8059 | ORPHA:520 | Acute promyelocytic leukemia | | | | | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | OCLN CL E G H | 100506658 | 8104 | OMIM:251290 | Band-Like calcification with simplified gyration and polymicrogyria | | | | 23 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | ORAI1 CL E G H | 84876 | 25896 | ORPHA:3204 | Stormorken-Sjaastad-Langslet syndrome | | | | 19 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | P2RY12 CL E G H | 64805 | 18124 | OMIM:609821 | Bleeding disorder, platelet-type, 8 | | | | 5 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | PDE11A CL E G H | 50940 | 8773 | ORPHA:1359 | Carney complex | | | | 13 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | PDE11A CL E G H | 50940 | 8773 | OMIM:610475 | Pigmented nodular adrenocortical disease, primary, 2 | | | | 13 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | PDE11A CL E G H | 50940 | 8773 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 13 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | PDE8B CL E G H | 8622 | 8794 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 75 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | PDGFB CL E G H | 5155 | 8800 | ORPHA:1980 | Bilateral striopallidodentate calcinosis | HP:0040281 - Very frequent | | | 9 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | PDGFRB CL E G H | 5159 | 8804 | ORPHA:1980 | Bilateral striopallidodentate calcinosis | HP:0040281 - Very frequent | | | 28 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | PEPD CL E G H | 5184 | 8840 | OMIM:170100 | Prolidase deficiency | | | | 66 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | PLAU CL E G H | 5328 | 9052 | OMIM:601709 | Quebec platelet disorder | | | | 50 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | PLEC CL E G H | 5339 | 9069 | OMIM:131950 | Epidermolysis bullosa simplex, Ogna type | | | | 759 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | PLOD1 CL E G H | 5351 | 9081 | OMIM:225400 | Ehlers-Danlos syndrome, kyphoscoliotic type, 1 | | | | 105 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | PLOD1 CL E G H | 5351 | 9081 | ORPHA:1900 | Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency | | | | 105 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | PLOD3 CL E G H | 8985 | 9083 | OMIM:612394 | Bone fragility with contractures, arterial rupture, and deafness | | | | 5 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | PML CL E G H | 5371 | 9113 | ORPHA:520 | Acute promyelocytic leukemia | | | | 3 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | PRDM5 CL E G H | 11107 | 9349 | ORPHA:90354 | Brittle cornea syndrome | | | | 58 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | PRF1 CL E G H | 5551 | 9360 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | | | | 58 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | PRF1 CL E G H | 5551 | 9360 | ORPHA:88 | Idiopathic aplastic anemia | | | | 58 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | PRKACA CL E G H | 5566 | 9380 | OMIM:615830 | Pigmented nodular adrenocortical disease, primary, 4 | | | | 2 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | PRKACA CL E G H | 5566 | 9380 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 2 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | PRKACG CL E G H | 5568 | 9382 | OMIM:616176 | Bleeding disorder, platelet-type, 19 | | | | 2 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:520 | Acute promyelocytic leukemia | | | | 134 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1359 | Carney complex | | | | 134 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:610489 | Pigmented nodular adrenocortical disease, primary, 1 | | | | 134 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 134 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 10 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | PRKCD CL E G H | 5580 | 9399 | ORPHA:1572 | Common variable immunodeficiency | | | | 10 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | PRKG1 CL E G H | 5592 | 9414 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | | | | 41 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | PROC CL E G H | 5624 | 9451 | ORPHA:745 | Severe hereditary thrombophilia due to congenital protein C deficiency | | | | 65 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | PROC CL E G H | 5624 | 9451 | OMIM:612304 | Thrombophilia due to protein C deficiency, autosomal recessive | | | | 65 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | PROS1 CL E G H | 5627 | 9456 | ORPHA:743 | Severe hereditary thrombophilia due to congenital protein S deficiency | HP:0040282 - Frequent | | | 75 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | PROS1 CL E G H | 5627 | 9456 | OMIM:614514 | Thrombophilia due to protein S deficiency, autosomal recessive | | | | 75 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | PROS1 CL E G H | 5627 | 9456 | OMIM:612336 | Thrombophilia, hereditary, due to protein S deficiency, autosomal | | | | 75 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | PRTN3 CL E G H | 5657 | 9495 | ORPHA:900 | Granulomatosis with polyangiitis | | | | | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:109 | Bannayan-Riley-Ruvalcaba syndrome | HP:0040282 - Frequent | | | 948 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | PTPN11 CL E G H | 5781 | 9644 | OMIM:163950 | Noonan syndrome 1 | | | | 291 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:900 | Granulomatosis with polyangiitis | | | | 3 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | PYCR1 CL E G H | 5831 | 9721 | OMIM:612940 | Cutis laxa, autosomal recessive, type IIB | | | | 53 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | RAB27A CL E G H | 5873 | 9766 | ORPHA:79477 | Griscelli syndrome type 2 | | | | 67 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | RARA CL E G H | 5914 | 9864 | ORPHA:520 | Acute promyelocytic leukemia | | | | 2 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | RIN2 CL E G H | 54453 | 18750 | OMIM:613075 | Macs syndrome | | | | 43 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | RIN2 CL E G H | 54453 | 18750 | ORPHA:217335 | RIN2 syndrome | | | | 43 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | RUNX1 CL E G H | 861 | 10471 | OMIM:601399 | Platelet disorder, familial, with associated myeloid malignancy | | | | 181 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | SAMD9 CL E G H | 54809 | 1348 | OMIM:617053 | Mirage syndrome | | | | 8 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | SBDS CL E G H | 51119 | 19440 | ORPHA:88 | Idiopathic aplastic anemia | | | | 26 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | SCARB2 CL E G H | 950 | 1665 | ORPHA:77259 | Gaucher disease type 1 | | | | 77 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | SERPINE1 CL E G H | 5054 | 8583 | ORPHA:465 | Congenital plasminogen activator inhibitor type 1 deficiency | HP:0040282 - Frequent | | | 39 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | SERPINF2 CL E G H | 5345 | 9075 | ORPHA:79 | Congenital alpha2-antiplasmin deficiency | | | | 8 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | SERPINF2 CL E G H | 5345 | 9075 | OMIM:262850 | Plasmin inhibitor deficiency | | | | 8 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | SH2B3 CL E G H | 10019 | 29605 | OMIM:254450 | Myelofibrosismyelofibrosis with myeloid metaplasia, included | | | | 4 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | SIK3 CL E G H | 23387 | 29165 | OMIM:618162 | Spondyloepimetaphyseal dysplasia, Krakow type | | | | | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | SLC20A2 CL E G H | 6575 | 10947 | ORPHA:1980 | Bilateral striopallidodentate calcinosis | HP:0040281 - Very frequent | | | 70 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | SLC2A10 CL E G H | 81031 | 13444 | OMIM:208050 | Arterial tortuosity syndrome | | | | 178 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | SLC35A1 CL E G H | 10559 | 11021 | OMIM:603585 | Congenital disorder of glycosylation, type IIf | | | | 24 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | SLC35A1 CL E G H | 10559 | 11021 | ORPHA:238459 | SLC35A1-CDG | HP:0040281 - Very frequent | | | 24 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | SLC37A4 CL E G H | 2542 | 4061 | ORPHA:79259 | Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib | | | | 110 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | SLC39A13 CL E G H | 91252 | 20859 | OMIM:612350 | Ehlers-Danlos syndrome, spondylodysplastic type, 3 | | | | 24 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | SLC39A13 CL E G H | 91252 | 20859 | ORPHA:157965 | SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome | | | | 24 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | SLC51A CL E G H | 200931 | 29955 | OMIM:619484 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6; PFIC6 | | | | | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | SLFN14 CL E G H | 342618 | 32689 | OMIM:616913 | Bleeding disorder, platelet-type, 20 | | | | 6 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | SMAD2 CL E G H | 4087 | 6768 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | | | | 7 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | SMAD3 CL E G H | 4088 | 6769 | ORPHA:284984 | Aneurysm-osteoarthritis syndrome | | | | 260 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | SMAD3 CL E G H | 4088 | 6769 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | | | | 260 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | SMAD3 CL E G H | 4088 | 6769 | OMIM:613795 | LOEYS-DIETZ SYNDROME 3; LDS3 | | | | 260 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | | | | 504 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | | | | 504 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | SNX10 CL E G H | 29887 | 14974 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | | | | 2 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | SOS1 CL E G H | 6654 | 11187 | OMIM:610733 | Noonan syndrome 4 | | | | 315 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | SPRED2 CL E G H | 200734 | 17722 | OMIM:619745 | NOONAN SYNDROME 14; NS14 | | | | | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | STAT3 CL E G H | 6774 | 11364 | ORPHA:520 | Acute promyelocytic leukemia | | | | 110 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | STAT5B CL E G H | 6777 | 11367 | ORPHA:520 | Acute promyelocytic leukemia | | | | 12 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | STIM1 CL E G H | 6786 | 11386 | ORPHA:3204 | Stormorken-Sjaastad-Langslet syndrome | | | | 31 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | STX11 CL E G H | 8676 | 11429 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | | | | 85 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | STXBP2 CL E G H | 6813 | 11445 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | | | | 70 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | TBL1XR1 CL E G H | 79718 | 29529 | ORPHA:520 | Acute promyelocytic leukemia | | | | 22 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 32 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | TBXA2R CL E G H | 6915 | 11608 | OMIM:614009 | BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO; BDPLT13 | | | | 10 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | | | | 82 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | TERC CL E G H | 7012 | 11727 | ORPHA:88 | Idiopathic aplastic anemia | | | | 48 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:88 | Idiopathic aplastic anemia | | | | 238 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:729 | Polycythemia vera | | | | 3 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:824 | Primary myelofibrosis | | | | 3 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | TFR2 CL E G H | 7036 | 11762 | OMIM:604250 | Hemochromatosis, type 3 | | | | 67 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | TGFB2 CL E G H | 7042 | 11768 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | | | | 162 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | TGFB2 CL E G H | 7042 | 11768 | OMIM:614816 | LOEYS-DIETZ SYNDROME 4; LDS4 | | | | 162 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | TGFB3 CL E G H | 7043 | 11769 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | | | | 85 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | TGFB3 CL E G H | 7043 | 11769 | OMIM:615582 | LOEYS-DIETZ SYNDROME 5; LDS5 | | | | 85 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | TGFBR1 CL E G H | 7046 | 11772 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | | | | 239 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | TGFBR1 CL E G H | 7046 | 11772 | ORPHA:60030 | Loeys-Dietz syndrome | | | | 239 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | TGFBR2 CL E G H | 7048 | 11773 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | | | | 253 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | TGFBR2 CL E G H | 7048 | 11773 | ORPHA:60030 | Loeys-Dietz syndrome | | | | 253 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | TNFRSF13B CL E G H | 23495 | 18153 | ORPHA:1572 | Common variable immunodeficiency | | | | 32 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | TNFRSF13C CL E G H | 115650 | 17755 | ORPHA:1572 | Common variable immunodeficiency | | | | 12 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | TNFRSF1A CL E G H | 7132 | 11916 | ORPHA:32960 | Tumor necrosis factor receptor 1 associated periodic syndrome | | | | 131 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | TNFSF11 CL E G H | 8600 | 11926 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | | | | 44 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | TNFSF12 CL E G H | 8742 | 11927 | ORPHA:1572 | Common variable immunodeficiency | | | | 1 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | TNXB CL E G H | 7148 | 11976 | ORPHA:230839 | Classical-like Ehlers-Danlos syndrome type 1 | | | | 134 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | TNXB CL E G H | 7148 | 11976 | OMIM:606408 | Ehlers-Danlos syndrome, classic-like | | | | 134 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:96253 | Cushing disease | | | | 911 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | TREX1 CL E G H | 11277 | 12269 | OMIM:225750 | Aicardi-Goutieres syndrome 1 | | | | 56 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | UNC13D CL E G H | 201294 | 23147 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | | | | 116 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | USP18 CL E G H | 11274 | 12616 | OMIM:617397 | Pseudo-Torch syndrome 2 | | | | 2 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | USP48 CL E G H | 84196 | 18533 | ORPHA:96253 | Cushing disease | | | | 1 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | USP8 CL E G H | 9101 | 12631 | ORPHA:96253 | Cushing disease | | | | 7 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | USP8 CL E G H | 9101 | 12631 | OMIM:219090 | Pituitary adenoma 4, ACTH-secreting, somatic | | | | 7 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | VWF CL E G H | 7450 | 12726 | OMIM:193400 | Von willebrand disease, type 1 | | | | 533 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | VWF CL E G H | 7450 | 12726 | OMIM:613554 | Von willebrand disease, type 2 | | | | 533 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | VWF CL E G H | 7450 | 12726 | OMIM:277480 | Von willebrand disease, type 3 | | | | 533 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | WAS CL E G H | 7454 | 12731 | OMIM:313900 | Thrombocytopenia 1 | | | | 65 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | WAS CL E G H | 7454 | 12731 | ORPHA:906 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | WIPF1 CL E G H | 7456 | 12736 | ORPHA:906 | Wiskott-Aldrich syndrome | | | | 6 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | XPR1 CL E G H | 9213 | 12827 | ORPHA:1980 | Bilateral striopallidodentate calcinosis | HP:0040281 - Very frequent | | | 4 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | ZBTB16 CL E G H | 7704 | 12930 | ORPHA:520 | Acute promyelocytic leukemia | | | | 1 | | |
HP:0001933 | HP:0001933 | Subcutaneous hemorrhage | 0 | ZNF469 CL E G H | 84627 | 23216 | ORPHA:90354 | Brittle cornea syndrome | | | | 397 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | ABCC6 CL E G H | 368 | 57 | ORPHA:758 | Pseudoxanthoma elasticum | HP:0040282 - Frequent | | | 415 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | ACP5 CL E G H | 54 | 124 | OMIM:607944 | Spondyloenchondrodysplasia with immune dysregulation | . | | | 16 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | ACTA2 CL E G H | 59 | 130 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 94 | | |
HP:0001933 | HP:0007420 | Spontaneous hematomas | 1 | ACVRL1 CL E G H | 94 | 175 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | HP:0040282 - Frequent | | | 178 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | ADA2 CL E G H | 51816 | 1839 | OMIM:615688 | Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome | | | | 22 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | ADAMTS2 CL E G H | 9509 | 218 | OMIM:225410 | Ehlers-Danlos syndrome, type VII, autosomal recessive | . | | | 165 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | AEBP1 CL E G H | 165 | 303 | ORPHA:536532 | Classical-like Ehlers-Danlos syndrome type 2 | HP:0040281 - Very frequent | | | | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | AEBP1 CL E G H | 165 | 303 | OMIM:618000 | Ehlers-Danlos syndrome, classic-like, 2 | . | | | | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | AIP CL E G H | 9049 | 358 | OMIM:219090 | Pituitary adenoma 4, ACTH-secreting, somatic | . | | | 95 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | AIP CL E G H | 9049 | 358 | OMIM:219090 | Pituitary adenoma 4, ACTH-secreting, somatic | . | | | 95 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | ANKRD26 CL E G H | 22852 | 29186 | OMIM:188000 | THROMBOCYTOPENIA 2; THC2 | | | | 106 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | APOE CL E G H | 348 | 613 | ORPHA:158029 | Sea-blue histiocytosis | | | | 39 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | ARL6IP6 CL E G H | 151188 | 24048 | ORPHA:1556 | Cutis marmorata telangiectatica congenita | HP:0040283 - Occasional | | | 1 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | ARMC5 CL E G H | 79798 | 25781 | ORPHA:189427 | Cushing syndrome due to macronodular adrenal hyperplasia | HP:0040282 - Frequent | | | 7 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001933 | HP:0007420 | Spontaneous hematomas | 1 | ATP7A CL E G H | 538 | 869 | ORPHA:565 | Menkes disease | HP:0040283 - Occasional | | | 192 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | ATP7A CL E G H | 538 | 869 | OMIM:304150 | Occipital horn syndrome | . | | | 192 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | ATP7A CL E G H | 538 | 869 | ORPHA:198 | Occipital horn syndrome | HP:0040282 - Frequent | | | 192 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | ATP7B CL E G H | 540 | 870 | ORPHA:905 | Wilson disease | HP:0040281 - Very frequent | | | 315 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | ATRX CL E G H | 546 | 886 | ORPHA:231401 | Alpha-thalassemia-myelodysplastic syndrome | HP:0040282 - Frequent | | | 169 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | ATRX CL E G H | 546 | 886 | ORPHA:96253 | Cushing disease | HP:0040282 - Frequent | | | 169 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | ATRX CL E G H | 546 | 886 | ORPHA:96253 | Cushing disease | | | | 169 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | B3GALT6 CL E G H | 126792 | 17978 | ORPHA:536467 | B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 38 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | BCOR CL E G H | 54880 | 20893 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 101 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | BCOR CL E G H | 54880 | 20893 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 101 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | BLOC1S3 CL E G H | 388552 | 20914 | OMIM:614077 | Hermansky-Pudlak syndrome 8 | . | | | 42 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | BLOC1S5 CL E G H | 63915 | 18561 | OMIM:619172 | HERMANSKY-PUDLAK SYNDROME 11; HPS11 | | | | | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | BRAF CL E G H | 673 | 1097 | ORPHA:96253 | Cushing disease | HP:0040282 - Frequent | | | 276 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | BRAF CL E G H | 673 | 1097 | ORPHA:96253 | Cushing disease | | | | 276 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | BRAF CL E G H | 673 | 1097 | OMIM:163950 | Noonan syndrome 1 | | | | 276 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | C1R CL E G H | 715 | 1246 | OMIM:130080 | Ehlers-Danlos syndrome, periodontal type, 1 | . | | | 15 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | C1S CL E G H | 716 | 1247 | OMIM:617174 | Ehlers-Danlos syndrome, periodontal type, 2 | . | | | 7 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | C2 CL E G H | 717 | 1248 | OMIM:217000 | Complement component 2 deficiency | . | | | 23 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | C4A CL E G H | 720 | 1323 | OMIM:614380 | Complement component 4A deficiency | . | | | 1 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | CALR CL E G H | 811 | 1455 | OMIM:254450 | Myelofibrosismyelofibrosis with myeloid metaplasia, included | | | | 1 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | CALR CL E G H | 811 | 1455 | ORPHA:824 | Primary myelofibrosis | HP:0040283 - Occasional | | | 1 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040282 - Frequent | | | 87 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | CASP10 CL E G H | 843 | 1500 | OMIM:603909 | Autoimmune lymphoproliferative syndrome, type IIA | | | | 87 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | CD109 CL E G H | 135228 | 21685 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | HP:0040282 - Frequent | | | | | |
HP:0001933 | HP:0007420 | Spontaneous hematomas | 1 | CD109 CL E G H | 135228 | 21685 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | HP:0040282 - Frequent | | | | | |
HP:0001933 | HP:0000979 | Purpura | 1 | CD19 CL E G H | 930 | 1633 | ORPHA:1572 | Common variable immunodeficiency | HP:0040282 - Frequent | | | 38 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | CD81 CL E G H | 975 | 1701 | ORPHA:1572 | Common variable immunodeficiency | HP:0040282 - Frequent | | | 1 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | CD81 CL E G H | 975 | 1701 | OMIM:613496 | Immunodeficiency, common variable, 6 | | | | 1 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | CDH23 CL E G H | 64072 | 13733 | ORPHA:96253 | Cushing disease | HP:0040282 - Frequent | | | 636 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | CDH23 CL E G H | 64072 | 13733 | ORPHA:96253 | Cushing disease | | | | 636 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | CFH CL E G H | 3075 | 4883 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | . | | | 86 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | CFHR1 CL E G H | 3078 | 4888 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | . | | | | | |
HP:0001933 | HP:0000979 | Purpura | 1 | CFHR3 CL E G H | 10878 | 16980 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | . | | | | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | CHST14 CL E G H | 113189 | 24464 | OMIM:601776 | Ehlers-Danlos syndrome, musculocontractural type 1 | . | | | 27 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | CHST14 CL E G H | 113189 | 24464 | OMIM:601776 | Ehlers-Danlos syndrome, musculocontractural type 1 | | | | 27 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | CHST14 CL E G H | 113189 | 24464 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 27 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | CLCN7 CL E G H | 1186 | 2025 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | HP:0040283 - Occasional | | | 102 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | CLCN7 CL E G H | 1186 | 2025 | OMIM:611490 | Osteopetrosis, autosomal recessive 4 | | | | 102 | | |
HP:0001933 | HP:0007420 | Spontaneous hematomas | 1 | COG8 CL E G H | 84342 | 18623 | ORPHA:95428 | COG8-CDG | HP:0040283 - Occasional | | | 39 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | COL1A1 CL E G H | 1277 | 2197 | ORPHA:287 | Classical Ehlers-Danlos syndrome | | | | 373 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | COL1A1 CL E G H | 1277 | 2197 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 373 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | COL1A1 CL E G H | 1277 | 2197 | OMIM:619115 | COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1 | | | | 373 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | COL1A1 CL E G H | 1277 | 2197 | OMIM:130060 | Ehlers-Danlos syndrome, arthrochalasia type, 1 | . | | | 373 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | COL1A1 CL E G H | 1277 | 2197 | OMIM:166200 | Osteogenesis imperfecta, type I | . | | | 373 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | COL1A2 CL E G H | 1278 | 2198 | ORPHA:230851 | Cardiac-valvular Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 243 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | COL1A2 CL E G H | 1278 | 2198 | OMIM:619120 | COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2; OIEDS2 | | | | 243 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | COL1A2 CL E G H | 1278 | 2198 | OMIM:617821 | Ehlers-Danlos syndrome, arthrochalasia type, 2 | . | | | 243 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | COL1A2 CL E G H | 1278 | 2198 | OMIM:225320 | Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form | . | | | 243 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | COL3A1 CL E G H | 1281 | 2201 | OMIM:130050 | Ehlers-Danlos syndrome, Vascular type | | | | 749 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | COL3A1 CL E G H | 1281 | 2201 | OMIM:130050 | Ehlers-Danlos syndrome, Vascular type | | | | 749 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | COL3A1 CL E G H | 1281 | 2201 | OMIM:618343 | Polymicrogyria with or without vascular-type ehlers-danlos syndrome | . | | | 749 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | COL3A1 CL E G H | 1281 | 2201 | ORPHA:286 | Vascular Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 749 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | COL5A1 CL E G H | 1289 | 2209 | ORPHA:287 | Classical Ehlers-Danlos syndrome | | | | 660 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | COL5A1 CL E G H | 1289 | 2209 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 660 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | COL5A1 CL E G H | 1289 | 2209 | OMIM:130000 | Ehlers-danlos syndrome, type I | | | | 660 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | COL5A2 CL E G H | 1290 | 2210 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 325 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | COL5A2 CL E G H | 1290 | 2210 | ORPHA:287 | Classical Ehlers-Danlos syndrome | | | | 325 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | COL5A2 CL E G H | 1290 | 2210 | OMIM:130010 | Ehlers-Danlos syndrome, classic type, 2 | | | | 325 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | CR2 CL E G H | 1380 | 2336 | ORPHA:1572 | Common variable immunodeficiency | HP:0040282 - Frequent | | | 10 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | CREB3L1 CL E G H | 90993 | 18856 | OMIM:616229 | Osteogenesis imperfecta, type XVI | | | | 4 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | CTLA4 CL E G H | 1493 | 2505 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040283 - Occasional | | | 10 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | DSE CL E G H | 29940 | 21144 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 13 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | DTNBP1 CL E G H | 84062 | 17328 | OMIM:614076 | Hermansky-Pudlak syndrome 7 | . | | | 46 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | ELN CL E G H | 2006 | 3327 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 172 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | EMILIN1 CL E G H | 11117 | 19880 | OMIM:620080 | | | | | 2 | | |
HP:0001933 | HP:0007420 | Spontaneous hematomas | 1 | ENG CL E G H | 2022 | 3349 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | HP:0040282 - Frequent | | | 186 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | ENPP1 CL E G H | 5167 | 3356 | ORPHA:758 | Pseudoxanthoma elasticum | HP:0040282 - Frequent | | | 151 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | ETHE1 CL E G H | 23474 | 23287 | OMIM:602473 | Encephalopathy, ethylmalonic | | | | 42 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | ETHE1 CL E G H | 23474 | 23287 | ORPHA:51188 | Ethylmalonic encephalopathy | | | | 42 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | ETV6 CL E G H | 2120 | 3495 | OMIM:616216 | Thrombocytopenia 5 | . | | | 13 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | ETV6 CL E G H | 2120 | 3495 | OMIM:616216 | Thrombocytopenia 5 | | | | 13 | | |
HP:0001933 | HP:0007420 | Spontaneous hematomas | 1 | F10 CL E G H | 2159 | 3528 | ORPHA:328 | Congenital factor X deficiency | HP:0040283 - Occasional | | | 33 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | F10 CL E G H | 2159 | 3528 | ORPHA:328 | Congenital factor X deficiency | HP:0040283 - Occasional | | | 33 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | F13A1 CL E G H | 2162 | 3531 | ORPHA:331 | Congenital factor XIII deficiency | HP:0040282 - Frequent | | | 60 | | |
HP:0001933 | HP:0007420 | Spontaneous hematomas | 1 | F13A1 CL E G H | 2162 | 3531 | ORPHA:331 | Congenital factor XIII deficiency | HP:0040282 - Frequent | | | 60 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | F13A1 CL E G H | 2162 | 3531 | ORPHA:331 | Congenital factor XIII deficiency | | | | 60 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | F13A1 CL E G H | 2162 | 3531 | OMIM:613225 | Factor XIII, A subunit, deficiency of | | | | 60 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | F13A1 CL E G H | 2162 | 3531 | OMIM:613225 | Factor XIII, A subunit, deficiency of | . | | | 60 | | |
HP:0001933 | HP:0007420 | Spontaneous hematomas | 1 | F13A1 CL E G H | 2162 | 3531 | OMIM:613225 | Factor XIII, A subunit, deficiency of | . | | | 60 | | |
HP:0001933 | HP:0007420 | Spontaneous hematomas | 1 | F13B CL E G H | 2165 | 3534 | ORPHA:331 | Congenital factor XIII deficiency | HP:0040282 - Frequent | | | 32 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | F13B CL E G H | 2165 | 3534 | ORPHA:331 | Congenital factor XIII deficiency | HP:0040282 - Frequent | | | 32 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | F13B CL E G H | 2165 | 3534 | ORPHA:331 | Congenital factor XIII deficiency | | | | 32 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | F13B CL E G H | 2165 | 3534 | OMIM:613235 | Factor XIIIB deficiency | | | | 32 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | F13B CL E G H | 2165 | 3534 | OMIM:613235 | Factor XIIIB deficiency | . | | | 32 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | F2 CL E G H | 2147 | 3535 | OMIM:613679 | Congenital prothrombin deficiency | . | | | 44 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | F2 CL E G H | 2147 | 3535 | OMIM:613679 | Congenital prothrombin deficiency | | | | 44 | | |
HP:0001933 | HP:0007420 | Spontaneous hematomas | 1 | F5 CL E G H | 2153 | 3542 | ORPHA:326 | Congenital factor V deficiency | HP:0040283 - Occasional | | | 159 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | F5 CL E G H | 2153 | 3542 | ORPHA:326 | Congenital factor V deficiency | HP:0040283 - Occasional | | | 159 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | F5 CL E G H | 2153 | 3542 | OMIM:227400 | Factor V deficiency | . | | | 159 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | F7 CL E G H | 2155 | 3544 | ORPHA:327 | Congenital factor VII deficiency | HP:0040282 - Frequent | | | 70 | | |
HP:0001933 | HP:0007420 | Spontaneous hematomas | 1 | F8 CL E G H | 2157 | 3546 | ORPHA:177926 | Bleeding disorder in hemophilia A carriers without FVIII deficiency | HP:0040284 - Very rare | | | 303 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | F8 CL E G H | 2157 | 3546 | ORPHA:177926 | Bleeding disorder in hemophilia A carriers without FVIII deficiency | HP:0040281 - Very frequent | | | 303 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | F8 CL E G H | 2157 | 3546 | OMIM:306700 | Hemophilia A | . | | | 303 | | |
HP:0001933 | HP:0007420 | Spontaneous hematomas | 1 | F8 CL E G H | 2157 | 3546 | ORPHA:169805 | Moderate hemophilia A | HP:0040284 - Very rare | | | 303 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | F8 CL E G H | 2157 | 3546 | ORPHA:169802 | Severe hemophilia A | HP:0040282 - Frequent | | | 303 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | FANCA CL E G H | 2175 | 3582 | OMIM:227650 | Fanconi anemia | . | | | 340 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | FANCC CL E G H | 2176 | 3584 | OMIM:227645 | Fanconi anemia, complementation group C | . | | | 410 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | FANCD2 CL E G H | 2177 | 3585 | OMIM:227646 | Fanconi anemia, complementation group D2 | . | | | 147 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | FANCE CL E G H | 2178 | 3586 | OMIM:600901 | Fanconi anemia, complementation group E | . | | | 73 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040282 - Frequent | | | 59 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040282 - Frequent | | | 37 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | FBN1 CL E G H | 2200 | 3603 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 1361 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | FBN1 CL E G H | 2200 | 3603 | OMIM:616914 | Marfan lipodystrophy syndrome | | | | 1361 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | FCGR2C CL E G H | 9103 | 15626 | ORPHA:3002 | Immune thrombocytopenia | HP:0040283 - Occasional | | | | | |
HP:0001933 | HP:0000979 | Purpura | 1 | FCGR2C CL E G H | 9103 | 15626 | ORPHA:3002 | Immune thrombocytopenia | HP:0040282 - Frequent | | | | | |
HP:0001933 | HP:0000979 | Purpura | 1 | FERMT3 CL E G H | 83706 | 23151 | OMIM:612840 | Leukocyte adhesion deficiency, type III | | | | 23 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | FGA CL E G H | 2243 | 3661 | OMIM:202400 | Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included | | | | 47 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | FGB CL E G H | 2244 | 3662 | OMIM:202400 | Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included | | | | 62 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | FGG CL E G H | 2266 | 3694 | OMIM:202400 | Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included | | | | 34 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | FIP1L1 CL E G H | 81608 | 19124 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 4 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | FIP1L1 CL E G H | 81608 | 19124 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 4 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | FKBP14 CL E G H | 55033 | 18625 | OMIM:614557 | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 | HP:0040283 - Occasional | | | 13 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | FKBP14 CL E G H | 55033 | 18625 | ORPHA:300179 | Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency | HP:0040282 - Frequent | | | 13 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | FLNA CL E G H | 2316 | 3754 | ORPHA:75497 | X-linked Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 493 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | FOXE3 CL E G H | 2301 | 3808 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 23 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | FYB1 CL E G H | 2533 | 4036 | OMIM:273900 | THROMBOCYTOPENIA 3; THC3 | | | | 4 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | GATA1 CL E G H | 2623 | 4170 | OMIM:314050 | Thrombocytopenia with beta-thalassemia, X-linked | | | | 29 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | GATA1 CL E G H | 2623 | 4170 | OMIM:314050 | Thrombocytopenia with beta-thalassemia, X-linked | . | | | 29 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | GATA1 CL E G H | 2623 | 4170 | OMIM:300367 | Thrombocytopenia, X-linked, with or without dyserythropoietic anemia | | | | 29 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | GATA1 CL E G H | 2623 | 4170 | OMIM:300367 | Thrombocytopenia, X-linked, with or without dyserythropoietic anemia | . | | | 29 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | GATA2 CL E G H | 2624 | 4171 | ORPHA:3226 | Deafness-lymphedema-leukemia syndrome | HP:0040282 - Frequent | | | 137 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | GBA1 CL E G H | 2629 | 4177 | ORPHA:77259 | Gaucher disease type 1 | HP:0040282 - Frequent | | | | | |
HP:0001933 | HP:0000979 | Purpura | 1 | GBA1 CL E G H | 2629 | 4177 | OMIM:608013 | Gaucher disease, perinatal lethal | . | | | | | |
HP:0001933 | HP:0000979 | Purpura | 1 | GBA1 CL E G H | 2629 | 4177 | ORPHA:2072 | Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | | | | | | |
HP:0001933 | HP:0007420 | Spontaneous hematomas | 1 | GDF2 CL E G H | 2658 | 4217 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | HP:0040282 - Frequent | | | 8 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | GFI1B CL E G H | 8328 | 4238 | OMIM:187900 | Bleeding disorder, platelet-type, 17 | . | | | 3 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | GFI1B CL E G H | 8328 | 4238 | OMIM:187900 | Bleeding disorder, platelet-type, 17 | | | | 3 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | GGCX CL E G H | 2677 | 4247 | OMIM:277450 | VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1 | | | | 129 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | GGCX CL E G H | 2677 | 4247 | OMIM:277450 | VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1 | . | | | 129 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | GIMAP5 CL E G H | 55340 | 18005 | OMIM:619463 | PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2 | | | | | | |
HP:0001933 | HP:0000979 | Purpura | 1 | GNA11 CL E G H | 2767 | 4379 | ORPHA:1556 | Cutis marmorata telangiectatica congenita | HP:0040283 - Occasional | | | 16 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | GNA14 CL E G H | 9630 | 4382 | ORPHA:1063 | Tufted angioma | HP:0040283 - Occasional | | | | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | GNAS CL E G H | 2778 | 4392 | OMIM:219080 | ACTH-independent macronodular adrenal hyperplasia | . | | | 101 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:189427 | Cushing syndrome due to macronodular adrenal hyperplasia | HP:0040282 - Frequent | | | 101 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | GP1BA CL E G H | 2811 | 4439 | ORPHA:274 | Bernard-Soulier syndrome | HP:0040283 - Occasional | | | 23 | | |
HP:0001933 | HP:0007420 | Spontaneous hematomas | 1 | GP1BA CL E G H | 2811 | 4439 | ORPHA:274 | Bernard-Soulier syndrome | HP:0040282 - Frequent | | | 23 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | GP1BA CL E G H | 2811 | 4439 | ORPHA:274 | Bernard-Soulier syndrome | | | | 23 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | GP1BA CL E G H | 2811 | 4439 | OMIM:153670 | Bernard-Soulier syndrome, type A2, autosomal dominant | | | | 23 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | GP1BA CL E G H | 2811 | 4439 | OMIM:153670 | Bernard-Soulier syndrome, type A2, autosomal dominant | . | | | 23 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | GP1BA CL E G H | 2811 | 4439 | OMIM:231200 | BERNARD-SOULIER SYNDROME; BSS | | | | 23 | | |
HP:0001933 | HP:0007420 | Spontaneous hematomas | 1 | GP1BA CL E G H | 2811 | 4439 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | HP:0040282 - Frequent | | | 23 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | GP1BA CL E G H | 2811 | 4439 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | HP:0040282 - Frequent | | | 23 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0001933 | HP:0007420 | Spontaneous hematomas | 1 | GP1BB CL E G H | 2812 | 4440 | ORPHA:274 | Bernard-Soulier syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | GP1BB CL E G H | 2812 | 4440 | ORPHA:274 | Bernard-Soulier syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | GP1BB CL E G H | 2812 | 4440 | ORPHA:274 | Bernard-Soulier syndrome | | | | 8 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | GP1BB CL E G H | 2812 | 4440 | OMIM:231200 | BERNARD-SOULIER SYNDROME; BSS | | | | 8 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | GP1BB CL E G H | 2812 | 4440 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | HP:0040282 - Frequent | | | 8 | | |
HP:0001933 | HP:0007420 | Spontaneous hematomas | 1 | GP1BB CL E G H | 2812 | 4440 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | HP:0040282 - Frequent | | | 8 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | GP6 CL E G H | 51206 | 14388 | OMIM:614201 | Bleeding disorder, platelet-type, 11 | | | | 24 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | GP6 CL E G H | 51206 | 14388 | OMIM:614201 | Bleeding disorder, platelet-type, 11 | . | | | 24 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | GP9 CL E G H | 2815 | 4444 | ORPHA:274 | Bernard-Soulier syndrome | HP:0040283 - Occasional | | | 21 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | GP9 CL E G H | 2815 | 4444 | ORPHA:274 | Bernard-Soulier syndrome | | | | 21 | | |
HP:0001933 | HP:0007420 | Spontaneous hematomas | 1 | GP9 CL E G H | 2815 | 4444 | ORPHA:274 | Bernard-Soulier syndrome | HP:0040282 - Frequent | | | 21 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | GP9 CL E G H | 2815 | 4444 | OMIM:231200 | BERNARD-SOULIER SYNDROME; BSS | | | | 21 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | GSN CL E G H | 2934 | 4620 | ORPHA:85448 | AGel amyloidosis | HP:0040282 - Frequent | | | 53 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | HBA1 CL E G H | 3039 | 4823 | ORPHA:98791 | Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 | HP:0040282 - Frequent | | | 200 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | HBA2 CL E G H | 3040 | 4824 | ORPHA:98791 | Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 | HP:0040282 - Frequent | | | 88 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | HEY2 CL E G H | 23493 | 4881 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | | | |
HP:0001933 | HP:0000979 | Purpura | 1 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | HLA-DPA1 CL E G H | 3113 | 4938 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040283 - Occasional | | | | | |
HP:0001933 | HP:0000979 | Purpura | 1 | HLA-DPB1 CL E G H | 3115 | 4940 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040283 - Occasional | | | 1 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | HOXA11 CL E G H | 3207 | 5101 | OMIM:605432 | Radioulnar synostosis with amegakaryocytic thrombocytopenia | . | | | 3 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | HPS1 CL E G H | 3257 | 5163 | OMIM:203300 | Hermansky-Pudlak syndrome 1 | | | | 121 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | HPS1 CL E G H | 3257 | 5163 | OMIM:203300 | Hermansky-Pudlak syndrome 1 | . | | | 121 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | HPS3 CL E G H | 84343 | 15597 | OMIM:614072 | Hermansky-Pudlak syndrome 3 | . | | | 67 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | HPS4 CL E G H | 89781 | 15844 | OMIM:614073 | Hermansky-Pudlak syndrome 4 | . | | | 123 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | HPS5 CL E G H | 11234 | 17022 | OMIM:614074 | Hermansky-Pudlak syndrome 5 | . | | | 105 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | HPS6 CL E G H | 79803 | 18817 | OMIM:614075 | Hermansky-Pudlak syndrome 6 | . | | | 45 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | HPS6 CL E G H | 79803 | 18817 | OMIM:614075 | Hermansky-Pudlak syndrome 6 | | | | 45 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | ICOS CL E G H | 29851 | 5351 | ORPHA:1572 | Common variable immunodeficiency | HP:0040282 - Frequent | | | 32 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | IFNG CL E G H | 3458 | 5438 | ORPHA:88 | Idiopathic aplastic anemia | | | | 23 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | IPO8 CL E G H | 10526 | 9853 | ORPHA:60030 | Loeys-Dietz syndrome | HP:0040283 - Occasional | | | | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0001933 | HP:0000979 | Purpura | 1 | IRF2BP2 CL E G H | 359948 | 21729 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 4 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | IRF2BP2 CL E G H | 359948 | 21729 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 4 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | IRF2BP2 CL E G H | 359948 | 21729 | ORPHA:1572 | Common variable immunodeficiency | HP:0040282 - Frequent | | | 4 | | |
HP:0001933 | HP:0007420 | Spontaneous hematomas | 1 | ITGA2 CL E G H | 3673 | 6137 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | HP:0040282 - Frequent | | | 119 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | ITGA2 CL E G H | 3673 | 6137 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | HP:0040282 - Frequent | | | 119 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | ITGA2B CL E G H | 3674 | 6138 | OMIM:187800 | Bleeding disorder, platelet-type, 16 | | | | 69 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | ITGA2B CL E G H | 3674 | 6138 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | HP:0040282 - Frequent | | | 69 | | |
HP:0001933 | HP:0007420 | Spontaneous hematomas | 1 | ITGA2B CL E G H | 3674 | 6138 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | HP:0040282 - Frequent | | | 69 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | ITGA2B CL E G H | 3674 | 6138 | ORPHA:849 | Glanzmann thrombasthenia | HP:0040282 - Frequent | | | 69 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | ITGA2B CL E G H | 3674 | 6138 | ORPHA:849 | Glanzmann thrombasthenia | HP:0040283 - Occasional | | | 69 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | ITGA2B CL E G H | 3674 | 6138 | OMIM:273800 | Glanzmann thrombasthenia | . | | | 69 | | |
HP:0001933 | HP:0007420 | Spontaneous hematomas | 1 | ITGA2B CL E G H | 3674 | 6138 | ORPHA:849 | Glanzmann thrombasthenia | HP:0040283 - Occasional | | | 69 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | ITGA2B CL E G H | 3674 | 6138 | OMIM:273800 | Glanzmann thrombasthenia | . | | | 69 | | |
HP:0001933 | HP:0007420 | Spontaneous hematomas | 1 | ITGB3 CL E G H | 3690 | 6156 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | HP:0040282 - Frequent | | | 80 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | ITGB3 CL E G H | 3690 | 6156 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | HP:0040282 - Frequent | | | 80 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | ITGB3 CL E G H | 3690 | 6156 | ORPHA:849 | Glanzmann thrombasthenia | HP:0040282 - Frequent | | | 80 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | ITGB3 CL E G H | 3690 | 6156 | ORPHA:849 | Glanzmann thrombasthenia | HP:0040283 - Occasional | | | 80 | | |
HP:0001933 | HP:0007420 | Spontaneous hematomas | 1 | ITGB3 CL E G H | 3690 | 6156 | ORPHA:849 | Glanzmann thrombasthenia | HP:0040283 - Occasional | | | 80 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | ITGB3 CL E G H | 3690 | 6156 | OMIM:619267 | GLANZMANN THROMBASTHENIA 2; GT2 | | | | 80 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | JAK2 CL E G H | 3717 | 6192 | OMIM:254450 | Myelofibrosismyelofibrosis with myeloid metaplasia, included | | | | 57 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | JAK2 CL E G H | 3717 | 6192 | ORPHA:729 | Polycythemia vera | HP:0040281 - Very frequent | | | 57 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | JAK2 CL E G H | 3717 | 6192 | ORPHA:824 | Primary myelofibrosis | HP:0040283 - Occasional | | | 57 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | KRAS CL E G H | 3845 | 6407 | OMIM:609942 | Noonan syndrome 3 | | | | 196 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | LCP2 CL E G H | 3937 | 6529 | OMIM:619374 | IMMUNODEFICIENCY 81; IMD81 | | | | | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | LMAN1 CL E G H | 3998 | 6631 | ORPHA:35909 | Combined deficiency of factor V and factor VIII | HP:0040282 - Frequent | | | 56 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | LOX CL E G H | 4015 | 6664 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 6 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | LYST CL E G H | 1130 | 1968 | ORPHA:352723 | Attenuated Chédiak-Higashi syndrome | HP:0040281 - Very frequent | | | 239 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | LYST CL E G H | 1130 | 1968 | ORPHA:167 | Chédiak-Higashi syndrome | HP:0040282 - Frequent | | | 239 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | LYST CL E G H | 1130 | 1968 | OMIM:214500 | Chediak-Higashi syndrome | | | | 239 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | MAP2K1 CL E G H | 5604 | 6840 | OMIM:163950 | Noonan syndrome 1 | | | | 134 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | MAPK1 CL E G H | 5594 | 6871 | OMIM:619087 | NOONAN SYNDROME 13; NS13 | | | | 2 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | MAT2A CL E G H | 4144 | 6904 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 13 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | MCFD2 CL E G H | 90411 | 18451 | ORPHA:35909 | Combined deficiency of factor V and factor VIII | HP:0040282 - Frequent | | | 77 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | MFAP5 CL E G H | 8076 | 29673 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 11 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | MPL CL E G H | 4352 | 7217 | OMIM:254450 | Myelofibrosismyelofibrosis with myeloid metaplasia, included | | | | 97 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | MPL CL E G H | 4352 | 7217 | ORPHA:729 | Polycythemia vera | HP:0040281 - Very frequent | | | 97 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | MPL CL E G H | 4352 | 7217 | ORPHA:824 | Primary myelofibrosis | HP:0040283 - Occasional | | | 97 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | MS4A1 CL E G H | 931 | 7315 | ORPHA:1572 | Common variable immunodeficiency | HP:0040282 - Frequent | | | 1 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | MTAP CL E G H | 4507 | 7413 | OMIM:112250 | Diaphyseal medullary stenosis with malignant fibrous histiocytoma | HP:0040283 - Occasional | | | 85 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | MVK CL E G H | 4598 | 7530 | ORPHA:343 | Hyperimmunoglobulinemia D with periodic fever | HP:0040283 - Occasional | | | 150 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | MYD88 CL E G H | 4615 | 7562 | ORPHA:33226 | Waldenström macroglobulinemia | HP:0040283 - Occasional | | | 9 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | MYH11 CL E G H | 4629 | 7569 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 418 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | MYH9 CL E G H | 4627 | 7579 | OMIM:155100 | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | . | | | 297 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | MYH9 CL E G H | 4627 | 7579 | ORPHA:182050 | MYH9-related disease | HP:0040282 - Frequent | | | 297 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | MYLK CL E G H | 4638 | 7590 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 326 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | NABP1 CL E G H | 64859 | 26232 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | NABP1 CL E G H | 64859 | 26232 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | NBEAL2 CL E G H | 23218 | 31928 | OMIM:139090 | Gray platelet syndrome | . | | | 127 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | NBEAL2 CL E G H | 23218 | 31928 | ORPHA:721 | Gray platelet syndrome | HP:0040281 - Very frequent | | | 127 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | NEU1 CL E G H | 4758 | 7758 | ORPHA:93400 | Congenital sialidosis type 2 | | | | 43 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | NFIX CL E G H | 4784 | 7788 | ORPHA:561 | Marshall-Smith syndrome | HP:0040282 - Frequent | | | 40 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | NFKB1 CL E G H | 4790 | 7794 | ORPHA:1572 | Common variable immunodeficiency | HP:0040282 - Frequent | | | 7 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:1572 | Common variable immunodeficiency | HP:0040282 - Frequent | | | 11 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | NLRP3 CL E G H | 114548 | 16400 | ORPHA:1451 | CINCA syndrome | HP:0040283 - Occasional | | | 217 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | NPM1 CL E G H | 4869 | 7910 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 12 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | NPM1 CL E G H | 4869 | 7910 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 12 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | NR3C1 CL E G H | 2908 | 7978 | ORPHA:96253 | Cushing disease | HP:0040282 - Frequent | | | 79 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | NR3C1 CL E G H | 2908 | 7978 | ORPHA:96253 | Cushing disease | | | | 79 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | NTRK1 CL E G H | 4914 | 8031 | ORPHA:642 | Hereditary sensory and autonomic neuropathy type 4 | HP:0040283 - Occasional | | | 97 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | NUMA1 CL E G H | 4926 | 8059 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | | | |
HP:0001933 | HP:0000979 | Purpura | 1 | NUMA1 CL E G H | 4926 | 8059 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | | | |
HP:0001933 | HP:0000979 | Purpura | 1 | OCLN CL E G H | 100506658 | 8104 | OMIM:251290 | Band-Like calcification with simplified gyration and polymicrogyria | | | | 23 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | ORAI1 CL E G H | 84876 | 25896 | ORPHA:3204 | Stormorken-Sjaastad-Langslet syndrome | HP:0040281 - Very frequent | | | 19 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | P2RY12 CL E G H | 64805 | 18124 | OMIM:609821 | Bleeding disorder, platelet-type, 8 | | | | 5 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | P2RY12 CL E G H | 64805 | 18124 | OMIM:609821 | Bleeding disorder, platelet-type, 8 | | | | 5 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | PDE11A CL E G H | 50940 | 8773 | ORPHA:1359 | Carney complex | | | | 13 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | PDE11A CL E G H | 50940 | 8773 | OMIM:610475 | Pigmented nodular adrenocortical disease, primary, 2 | . | | | 13 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | PDE11A CL E G H | 50940 | 8773 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 13 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | PDE8B CL E G H | 8622 | 8794 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 75 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | PEPD CL E G H | 5184 | 8840 | OMIM:170100 | Prolidase deficiency | | | | 66 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | PLAU CL E G H | 5328 | 9052 | OMIM:601709 | Quebec platelet disorder | . | | | 50 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | PLEC CL E G H | 5339 | 9069 | OMIM:131950 | Epidermolysis bullosa simplex, Ogna type | . | | | 759 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | PLOD1 CL E G H | 5351 | 9081 | OMIM:225400 | Ehlers-Danlos syndrome, kyphoscoliotic type, 1 | | | | 105 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | PLOD1 CL E G H | 5351 | 9081 | ORPHA:1900 | Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency | HP:0040281 - Very frequent | | | 105 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | PLOD3 CL E G H | 8985 | 9083 | OMIM:612394 | Bone fragility with contractures, arterial rupture, and deafness | . | | | 5 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | PML CL E G H | 5371 | 9113 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 3 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | PML CL E G H | 5371 | 9113 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 3 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | PRDM5 CL E G H | 11107 | 9349 | ORPHA:90354 | Brittle cornea syndrome | HP:0040282 - Frequent | | | 58 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | PRF1 CL E G H | 5551 | 9360 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040282 - Frequent | | | 58 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | PRF1 CL E G H | 5551 | 9360 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040283 - Occasional | | | 58 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | PRF1 CL E G H | 5551 | 9360 | ORPHA:88 | Idiopathic aplastic anemia | | | | 58 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | PRKACA CL E G H | 5566 | 9380 | OMIM:615830 | Pigmented nodular adrenocortical disease, primary, 4 | . | | | 2 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | PRKACA CL E G H | 5566 | 9380 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 2 | | |
HP:0001933 | HP:0007420 | Spontaneous hematomas | 1 | PRKACG CL E G H | 5568 | 9382 | OMIM:616176 | Bleeding disorder, platelet-type, 19 | . | | | 2 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 134 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 134 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1359 | Carney complex | | | | 134 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:610489 | Pigmented nodular adrenocortical disease, primary, 1 | . | | | 134 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 134 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040282 - Frequent | | | 10 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | PRKCD CL E G H | 5580 | 9399 | ORPHA:1572 | Common variable immunodeficiency | HP:0040282 - Frequent | | | 10 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | PRKG1 CL E G H | 5592 | 9414 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 41 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | PROC CL E G H | 5624 | 9451 | ORPHA:745 | Severe hereditary thrombophilia due to congenital protein C deficiency | HP:0040282 - Frequent | | | 65 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | PROC CL E G H | 5624 | 9451 | OMIM:612304 | Thrombophilia due to protein C deficiency, autosomal recessive | . | | | 65 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | PROS1 CL E G H | 5627 | 9456 | ORPHA:743 | Severe hereditary thrombophilia due to congenital protein S deficiency | HP:0040281 - Very frequent | | | 75 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | PROS1 CL E G H | 5627 | 9456 | OMIM:614514 | Thrombophilia due to protein S deficiency, autosomal recessive | . | | | 75 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | PROS1 CL E G H | 5627 | 9456 | OMIM:612336 | Thrombophilia, hereditary, due to protein S deficiency, autosomal | . | | | 75 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | PRTN3 CL E G H | 5657 | 9495 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040283 - Occasional | | | | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | PTPN11 CL E G H | 5781 | 9644 | OMIM:163950 | Noonan syndrome 1 | | | | 291 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040283 - Occasional | | | 3 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | PYCR1 CL E G H | 5831 | 9721 | OMIM:612940 | Cutis laxa, autosomal recessive, type IIB | | | | 53 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | RAB27A CL E G H | 5873 | 9766 | ORPHA:79477 | Griscelli syndrome type 2 | | | | 67 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | RARA CL E G H | 5914 | 9864 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 2 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | RARA CL E G H | 5914 | 9864 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 2 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040282 - Frequent | | | | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | RIN2 CL E G H | 54453 | 18750 | OMIM:613075 | Macs syndrome | . | | | 43 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | RIN2 CL E G H | 54453 | 18750 | ORPHA:217335 | RIN2 syndrome | HP:0040282 - Frequent | | | 43 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | RUNX1 CL E G H | 861 | 10471 | OMIM:601399 | Platelet disorder, familial, with associated myeloid malignancy | . | | | 181 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | SAMD9 CL E G H | 54809 | 1348 | OMIM:617053 | Mirage syndrome | | | | 8 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | SBDS CL E G H | 51119 | 19440 | ORPHA:88 | Idiopathic aplastic anemia | | | | 26 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | SCARB2 CL E G H | 950 | 1665 | ORPHA:77259 | Gaucher disease type 1 | HP:0040282 - Frequent | | | 77 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | SERPINF2 CL E G H | 5345 | 9075 | ORPHA:79 | Congenital alpha2-antiplasmin deficiency | HP:0040283 - Occasional | | | 8 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | SERPINF2 CL E G H | 5345 | 9075 | OMIM:262850 | Plasmin inhibitor deficiency | . | | | 8 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | SH2B3 CL E G H | 10019 | 29605 | OMIM:254450 | Myelofibrosismyelofibrosis with myeloid metaplasia, included | | | | 4 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | SIK3 CL E G H | 23387 | 29165 | OMIM:618162 | Spondyloepimetaphyseal dysplasia, Krakow type | . | | | | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | SLC2A10 CL E G H | 81031 | 13444 | OMIM:208050 | Arterial tortuosity syndrome | . | | | 178 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | SLC37A4 CL E G H | 2542 | 4061 | ORPHA:79259 | Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib | HP:0040283 - Occasional | | | 110 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | SLC39A13 CL E G H | 91252 | 20859 | OMIM:612350 | Ehlers-Danlos syndrome, spondylodysplastic type, 3 | . | | | 24 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | SLC39A13 CL E G H | 91252 | 20859 | ORPHA:157965 | SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 24 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | SLC51A CL E G H | 200931 | 29955 | OMIM:619484 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6; PFIC6 | | | | | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | SLFN14 CL E G H | 342618 | 32689 | OMIM:616913 | Bleeding disorder, platelet-type, 20 | . | | | 6 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | SMAD2 CL E G H | 4087 | 6768 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 7 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | SMAD3 CL E G H | 4088 | 6769 | ORPHA:284984 | Aneurysm-osteoarthritis syndrome | HP:0040282 - Frequent | | | 260 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | SMAD3 CL E G H | 4088 | 6769 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 260 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | SMAD3 CL E G H | 4088 | 6769 | OMIM:613795 | LOEYS-DIETZ SYNDROME 3; LDS3 | | | | 260 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 504 | | |
HP:0001933 | HP:0007420 | Spontaneous hematomas | 1 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | HP:0040282 - Frequent | | | 504 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | SNX10 CL E G H | 29887 | 14974 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | HP:0040283 - Occasional | | | 2 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | SOS1 CL E G H | 6654 | 11187 | OMIM:610733 | Noonan syndrome 4 | | | | 315 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | SPRED2 CL E G H | 200734 | 17722 | OMIM:619745 | NOONAN SYNDROME 14; NS14 | | | | | | |
HP:0001933 | HP:0000979 | Purpura | 1 | STAT3 CL E G H | 6774 | 11364 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 110 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | STAT3 CL E G H | 6774 | 11364 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 110 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | STAT5B CL E G H | 6777 | 11367 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 12 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | STAT5B CL E G H | 6777 | 11367 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 12 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | STIM1 CL E G H | 6786 | 11386 | ORPHA:3204 | Stormorken-Sjaastad-Langslet syndrome | HP:0040281 - Very frequent | | | 31 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | STX11 CL E G H | 8676 | 11429 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040282 - Frequent | | | 85 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | STX11 CL E G H | 8676 | 11429 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040283 - Occasional | | | 85 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | STXBP2 CL E G H | 6813 | 11445 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040282 - Frequent | | | 70 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | STXBP2 CL E G H | 6813 | 11445 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040283 - Occasional | | | 70 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | TBL1XR1 CL E G H | 79718 | 29529 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 22 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | TBL1XR1 CL E G H | 79718 | 29529 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 22 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | TBXA2R CL E G H | 6915 | 11608 | OMIM:614009 | BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO; BDPLT13 | | | | 10 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | TBXA2R CL E G H | 6915 | 11608 | OMIM:614009 | BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO; BDPLT13 | | | | 10 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | HP:0040283 - Occasional | | | 82 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | TERC CL E G H | 7012 | 11727 | ORPHA:88 | Idiopathic aplastic anemia | | | | 48 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | TERT CL E G H | 7015 | 11730 | ORPHA:88 | Idiopathic aplastic anemia | | | | 238 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | TET2 CL E G H | 54790 | 25941 | ORPHA:729 | Polycythemia vera | HP:0040281 - Very frequent | | | 3 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | TET2 CL E G H | 54790 | 25941 | ORPHA:824 | Primary myelofibrosis | HP:0040283 - Occasional | | | 3 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | TFR2 CL E G H | 7036 | 11762 | OMIM:604250 | Hemochromatosis, type 3 | . | | | 67 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | TGFB2 CL E G H | 7042 | 11768 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 162 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | TGFB2 CL E G H | 7042 | 11768 | OMIM:614816 | LOEYS-DIETZ SYNDROME 4; LDS4 | | | | 162 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | TGFB3 CL E G H | 7043 | 11769 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 85 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | TGFB3 CL E G H | 7043 | 11769 | OMIM:615582 | LOEYS-DIETZ SYNDROME 5; LDS5 | | | | 85 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | TGFBR1 CL E G H | 7046 | 11772 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 239 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | TGFBR1 CL E G H | 7046 | 11772 | ORPHA:60030 | Loeys-Dietz syndrome | HP:0040283 - Occasional | | | 239 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | TGFBR2 CL E G H | 7048 | 11773 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 253 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | TGFBR2 CL E G H | 7048 | 11773 | ORPHA:60030 | Loeys-Dietz syndrome | HP:0040283 - Occasional | | | 253 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | TNFRSF13B CL E G H | 23495 | 18153 | ORPHA:1572 | Common variable immunodeficiency | HP:0040282 - Frequent | | | 32 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | TNFRSF13C CL E G H | 115650 | 17755 | ORPHA:1572 | Common variable immunodeficiency | HP:0040282 - Frequent | | | 12 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | TNFRSF1A CL E G H | 7132 | 11916 | ORPHA:32960 | Tumor necrosis factor receptor 1 associated periodic syndrome | HP:0040283 - Occasional | | | 131 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | TNFSF11 CL E G H | 8600 | 11926 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | HP:0040283 - Occasional | | | 44 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | TNFSF12 CL E G H | 8742 | 11927 | ORPHA:1572 | Common variable immunodeficiency | HP:0040282 - Frequent | | | 1 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | TNXB CL E G H | 7148 | 11976 | ORPHA:230839 | Classical-like Ehlers-Danlos syndrome type 1 | HP:0040282 - Frequent | | | 134 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | TNXB CL E G H | 7148 | 11976 | OMIM:606408 | Ehlers-Danlos syndrome, classic-like | . | | | 134 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | TP53 CL E G H | 7157 | 11998 | ORPHA:96253 | Cushing disease | HP:0040282 - Frequent | | | 911 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | TP53 CL E G H | 7157 | 11998 | ORPHA:96253 | Cushing disease | | | | 911 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | TREX1 CL E G H | 11277 | 12269 | OMIM:225750 | Aicardi-Goutieres syndrome 1 | . | | | 56 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0001933 | HP:0000979 | Purpura | 1 | UNC13D CL E G H | 201294 | 23147 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040282 - Frequent | | | 116 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | UNC13D CL E G H | 201294 | 23147 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040283 - Occasional | | | 116 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | USP18 CL E G H | 11274 | 12616 | OMIM:617397 | Pseudo-Torch syndrome 2 | | | | 2 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | USP48 CL E G H | 84196 | 18533 | ORPHA:96253 | Cushing disease | HP:0040282 - Frequent | | | 1 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | USP48 CL E G H | 84196 | 18533 | ORPHA:96253 | Cushing disease | | | | 1 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | USP8 CL E G H | 9101 | 12631 | ORPHA:96253 | Cushing disease | HP:0040282 - Frequent | | | 7 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | USP8 CL E G H | 9101 | 12631 | ORPHA:96253 | Cushing disease | | | | 7 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | USP8 CL E G H | 9101 | 12631 | OMIM:219090 | Pituitary adenoma 4, ACTH-secreting, somatic | . | | | 7 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | USP8 CL E G H | 9101 | 12631 | OMIM:219090 | Pituitary adenoma 4, ACTH-secreting, somatic | . | | | 7 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | VWF CL E G H | 7450 | 12726 | OMIM:193400 | Von willebrand disease, type 1 | | | | 533 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | VWF CL E G H | 7450 | 12726 | OMIM:613554 | Von willebrand disease, type 2 | . | | | 533 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | VWF CL E G H | 7450 | 12726 | OMIM:277480 | Von willebrand disease, type 3 | . | | | 533 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | WAS CL E G H | 7454 | 12731 | OMIM:313900 | Thrombocytopenia 1 | . | | | 65 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | WAS CL E G H | 7454 | 12731 | OMIM:313900 | Thrombocytopenia 1 | | | | 65 | | |
HP:0001933 | HP:0007420 | Spontaneous hematomas | 1 | WAS CL E G H | 7454 | 12731 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040281 - Very frequent | | | 65 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | . | | | 65 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | WAS CL E G H | 7454 | 12731 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040282 - Frequent | | | 65 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | WAS CL E G H | 7454 | 12731 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040281 - Very frequent | | | 65 | | |
HP:0001933 | HP:0007420 | Spontaneous hematomas | 1 | WIPF1 CL E G H | 7456 | 12736 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040281 - Very frequent | | | 6 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | WIPF1 CL E G H | 7456 | 12736 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | WIPF1 CL E G H | 7456 | 12736 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040281 - Very frequent | | | 6 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | ZBTB16 CL E G H | 7704 | 12930 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 1 | | |
HP:0001933 | HP:0000979 | Purpura | 1 | ZBTB16 CL E G H | 7704 | 12930 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 1 | | |
HP:0001933 | HP:0000978 | Bruising susceptibility | 1 | ZNF469 CL E G H | 84627 | 23216 | ORPHA:90354 | Brittle cornea syndrome | HP:0040282 - Frequent | | | 397 | | |
HP:0001933 | HP:0031363 | Palpable purpura | 2 | CL E G H | | | | | | | | | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | AIP CL E G H | 9049 | 358 | OMIM:219090 | Pituitary adenoma 4, ACTH-secreting, somatic | | | | 95 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | APOE CL E G H | 348 | 613 | ORPHA:158029 | Sea-blue histiocytosis | | | | 39 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | ATRX CL E G H | 546 | 886 | ORPHA:96253 | Cushing disease | | | | 169 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | BCOR CL E G H | 54880 | 20893 | ORPHA:520 | Acute promyelocytic leukemia | | | | 101 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | BRAF CL E G H | 673 | 1097 | ORPHA:96253 | Cushing disease | | | | 276 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | CALR CL E G H | 811 | 1455 | ORPHA:824 | Primary myelofibrosis | | | | 1 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | CASP10 CL E G H | 843 | 1500 | OMIM:603909 | Autoimmune lymphoproliferative syndrome, type IIA | | | | 87 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | CD109 CL E G H | 135228 | 21685 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | | | | | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | CDH23 CL E G H | 64072 | 13733 | ORPHA:96253 | Cushing disease | | | | 636 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | CHST14 CL E G H | 113189 | 24464 | OMIM:601776 | Ehlers-Danlos syndrome, musculocontractural type 1 | | | | 27 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | CLCN7 CL E G H | 1186 | 2025 | OMIM:611490 | Osteopetrosis, autosomal recessive 4 | | | | 102 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | COL1A1 CL E G H | 1277 | 2197 | ORPHA:287 | Classical Ehlers-Danlos syndrome | | | | 373 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | COL3A1 CL E G H | 1281 | 2201 | OMIM:130050 | Ehlers-Danlos syndrome, Vascular type | | | | 749 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | COL5A1 CL E G H | 1289 | 2209 | ORPHA:287 | Classical Ehlers-Danlos syndrome | | | | 660 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | COL5A2 CL E G H | 1290 | 2210 | ORPHA:287 | Classical Ehlers-Danlos syndrome | | | | 325 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | ETHE1 CL E G H | 23474 | 23287 | OMIM:602473 | Encephalopathy, ethylmalonic | | | | 42 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | ETHE1 CL E G H | 23474 | 23287 | ORPHA:51188 | Ethylmalonic encephalopathy | | | | 42 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | ETV6 CL E G H | 2120 | 3495 | OMIM:616216 | Thrombocytopenia 5 | | | | 13 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | F13A1 CL E G H | 2162 | 3531 | ORPHA:331 | Congenital factor XIII deficiency | | | | 60 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | F13A1 CL E G H | 2162 | 3531 | OMIM:613225 | Factor XIII, A subunit, deficiency of | | | | 60 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | F13B CL E G H | 2165 | 3534 | ORPHA:331 | Congenital factor XIII deficiency | | | | 32 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | F13B CL E G H | 2165 | 3534 | OMIM:613235 | Factor XIIIB deficiency | | | | 32 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | F2 CL E G H | 2147 | 3535 | OMIM:613679 | Congenital prothrombin deficiency | | | | 44 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | FCGR2C CL E G H | 9103 | 15626 | ORPHA:3002 | Immune thrombocytopenia | | | | | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | FERMT3 CL E G H | 83706 | 23151 | OMIM:612840 | Leukocyte adhesion deficiency, type III | | | | 23 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | FIP1L1 CL E G H | 81608 | 19124 | ORPHA:520 | Acute promyelocytic leukemia | | | | 4 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | FYB1 CL E G H | 2533 | 4036 | OMIM:273900 | THROMBOCYTOPENIA 3; THC3 | | | | 4 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | GATA1 CL E G H | 2623 | 4170 | OMIM:314050 | Thrombocytopenia with beta-thalassemia, X-linked | | | | 29 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | GATA1 CL E G H | 2623 | 4170 | OMIM:300367 | Thrombocytopenia, X-linked, with or without dyserythropoietic anemia | | | | 29 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | GBA1 CL E G H | 2629 | 4177 | OMIM:608013 | Gaucher disease, perinatal lethal | | | | | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | GBA1 CL E G H | 2629 | 4177 | ORPHA:2072 | Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | | | | | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | GFI1B CL E G H | 8328 | 4238 | OMIM:187900 | Bleeding disorder, platelet-type, 17 | | | | 3 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | GGCX CL E G H | 2677 | 4247 | OMIM:277450 | VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1 | | | | 129 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | GIMAP5 CL E G H | 55340 | 18005 | OMIM:619463 | PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2 | | | | | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | GNA14 CL E G H | 9630 | 4382 | ORPHA:1063 | Tufted angioma | | | | | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | GP1BA CL E G H | 2811 | 4439 | ORPHA:274 | Bernard-Soulier syndrome | | | | 23 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | GP1BA CL E G H | 2811 | 4439 | OMIM:153670 | Bernard-Soulier syndrome, type A2, autosomal dominant | | | | 23 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | GP1BA CL E G H | 2811 | 4439 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | | | | 23 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | GP1BB CL E G H | 2812 | 4440 | ORPHA:274 | Bernard-Soulier syndrome | | | | 8 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | GP1BB CL E G H | 2812 | 4440 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | | | | 8 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | GP6 CL E G H | 51206 | 14388 | OMIM:614201 | Bleeding disorder, platelet-type, 11 | | | | 24 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | GP9 CL E G H | 2815 | 4444 | ORPHA:274 | Bernard-Soulier syndrome | | | | 21 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | HOXA11 CL E G H | 3207 | 5101 | OMIM:605432 | Radioulnar synostosis with amegakaryocytic thrombocytopenia | | | | 3 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | HPS1 CL E G H | 3257 | 5163 | OMIM:203300 | Hermansky-Pudlak syndrome 1 | | | | 121 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | HPS6 CL E G H | 79803 | 18817 | OMIM:614075 | Hermansky-Pudlak syndrome 6 | | | | 45 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | IFNG CL E G H | 3458 | 5438 | ORPHA:88 | Idiopathic aplastic anemia | | | | 23 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | IRF2BP2 CL E G H | 359948 | 21729 | ORPHA:520 | Acute promyelocytic leukemia | | | | 4 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | ITGA2 CL E G H | 3673 | 6137 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | | | | 119 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | ITGA2B CL E G H | 3674 | 6138 | OMIM:187800 | Bleeding disorder, platelet-type, 16 | | | | 69 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | ITGA2B CL E G H | 3674 | 6138 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | | | | 69 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | ITGA2B CL E G H | 3674 | 6138 | ORPHA:849 | Glanzmann thrombasthenia | | | | 69 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | ITGA2B CL E G H | 3674 | 6138 | OMIM:273800 | Glanzmann thrombasthenia | | | | 69 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | ITGB3 CL E G H | 3690 | 6156 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | | | | 80 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | ITGB3 CL E G H | 3690 | 6156 | ORPHA:849 | Glanzmann thrombasthenia | | | | 80 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | JAK2 CL E G H | 3717 | 6192 | ORPHA:824 | Primary myelofibrosis | | | | 57 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | LCP2 CL E G H | 3937 | 6529 | OMIM:619374 | IMMUNODEFICIENCY 81; IMD81 | | | | | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | MPL CL E G H | 4352 | 7217 | ORPHA:824 | Primary myelofibrosis | | | | 97 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | NABP1 CL E G H | 64859 | 26232 | ORPHA:520 | Acute promyelocytic leukemia | | | | | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | NEU1 CL E G H | 4758 | 7758 | ORPHA:93400 | Congenital sialidosis type 2 | | | | 43 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | NPM1 CL E G H | 4869 | 7910 | ORPHA:520 | Acute promyelocytic leukemia | | | | 12 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | NR3C1 CL E G H | 2908 | 7978 | ORPHA:96253 | Cushing disease | | | | 79 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | NUMA1 CL E G H | 4926 | 8059 | ORPHA:520 | Acute promyelocytic leukemia | | | | | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | OCLN CL E G H | 100506658 | 8104 | OMIM:251290 | Band-Like calcification with simplified gyration and polymicrogyria | | | | 23 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | P2RY12 CL E G H | 64805 | 18124 | OMIM:609821 | Bleeding disorder, platelet-type, 8 | | | | 5 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | PEPD CL E G H | 5184 | 8840 | OMIM:170100 | Prolidase deficiency | | | | 66 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | PML CL E G H | 5371 | 9113 | ORPHA:520 | Acute promyelocytic leukemia | | | | 3 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | PRF1 CL E G H | 5551 | 9360 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | | | | 58 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | PRF1 CL E G H | 5551 | 9360 | ORPHA:88 | Idiopathic aplastic anemia | | | | 58 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:520 | Acute promyelocytic leukemia | | | | 134 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | RAB27A CL E G H | 5873 | 9766 | ORPHA:79477 | Griscelli syndrome type 2 | | | | 67 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | RARA CL E G H | 5914 | 9864 | ORPHA:520 | Acute promyelocytic leukemia | | | | 2 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | SAMD9 CL E G H | 54809 | 1348 | OMIM:617053 | Mirage syndrome | | | | 8 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | SBDS CL E G H | 51119 | 19440 | ORPHA:88 | Idiopathic aplastic anemia | | | | 26 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | STAT3 CL E G H | 6774 | 11364 | ORPHA:520 | Acute promyelocytic leukemia | | | | 110 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | STAT5B CL E G H | 6777 | 11367 | ORPHA:520 | Acute promyelocytic leukemia | | | | 12 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | STX11 CL E G H | 8676 | 11429 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | | | | 85 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | STXBP2 CL E G H | 6813 | 11445 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | | | | 70 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | TBL1XR1 CL E G H | 79718 | 29529 | ORPHA:520 | Acute promyelocytic leukemia | | | | 22 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | TBXA2R CL E G H | 6915 | 11608 | OMIM:614009 | BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO; BDPLT13 | | | | 10 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | TERC CL E G H | 7012 | 11727 | ORPHA:88 | Idiopathic aplastic anemia | | | | 48 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | TERT CL E G H | 7015 | 11730 | ORPHA:88 | Idiopathic aplastic anemia | | | | 238 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | TET2 CL E G H | 54790 | 25941 | ORPHA:824 | Primary myelofibrosis | | | | 3 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | TP53 CL E G H | 7157 | 11998 | ORPHA:96253 | Cushing disease | | | | 911 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | TREX1 CL E G H | 11277 | 12269 | OMIM:225750 | Aicardi-Goutieres syndrome 1 | | | | 56 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | UNC13D CL E G H | 201294 | 23147 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | | | | 116 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | USP18 CL E G H | 11274 | 12616 | OMIM:617397 | Pseudo-Torch syndrome 2 | | | | 2 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | USP48 CL E G H | 84196 | 18533 | ORPHA:96253 | Cushing disease | | | | 1 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | USP8 CL E G H | 9101 | 12631 | ORPHA:96253 | Cushing disease | | | | 7 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | USP8 CL E G H | 9101 | 12631 | OMIM:219090 | Pituitary adenoma 4, ACTH-secreting, somatic | | | | 7 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | WAS CL E G H | 7454 | 12731 | OMIM:313900 | Thrombocytopenia 1 | | | | 65 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | WAS CL E G H | 7454 | 12731 | ORPHA:906 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | WIPF1 CL E G H | 7456 | 12736 | ORPHA:906 | Wiskott-Aldrich syndrome | | | | 6 | | |
HP:0001933 | HP:0031365 | Macular purpura | 2 | ZBTB16 CL E G H | 7704 | 12930 | ORPHA:520 | Acute promyelocytic leukemia | | | | 1 | | |
HP:0001933 | HP:0031364 | Ecchymosis | 3 | AIP CL E G H | 9049 | 358 | OMIM:219090 | Pituitary adenoma 4, ACTH-secreting, somatic | . | | | 95 | | |
HP:0001933 | HP:0000967 | Petechiae | 3 | APOE CL E G H | 348 | 613 | ORPHA:158029 | Sea-blue histiocytosis | HP:0040281 - Very frequent | | | 39 | | |
HP:0001933 | HP:0031364 | Ecchymosis | 3 | ATRX CL E G H | 546 | 886 | ORPHA:96253 | Cushing disease | | | | 169 | | |
HP:0001933 | HP:0031364 | Ecchymosis | 3 | BCOR CL E G H | 54880 | 20893 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 101 | | |
HP:0001933 | HP:0000967 | Petechiae | 3 | BCOR CL E G H | 54880 | 20893 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 101 | | |
HP:0001933 | HP:0031364 | Ecchymosis | 3 | BRAF CL E G H | 673 | 1097 | ORPHA:96253 | Cushing disease | | | | 276 | | |
HP:0001933 | HP:0000967 | Petechiae | 3 | CALR CL E G H | 811 | 1455 | ORPHA:824 | Primary myelofibrosis | HP:0040283 - Occasional | | | 1 | | |
HP:0001933 | HP:0031364 | Ecchymosis | 3 | CALR CL E G H | 811 | 1455 | ORPHA:824 | Primary myelofibrosis | HP:0040283 - Occasional | | | 1 | | |
HP:0001933 | HP:0000967 | Petechiae | 3 | CASP10 CL E G H | 843 | 1500 | OMIM:603909 | Autoimmune lymphoproliferative syndrome, type IIA | | | | 87 | | |
HP:0001933 | HP:0000967 | Petechiae | 3 | CD109 CL E G H | 135228 | 21685 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | HP:0040282 - Frequent | | | | | |
HP:0001933 | HP:0031364 | Ecchymosis | 3 | CD109 CL E G H | 135228 | 21685 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | HP:0040283 - Occasional | | | | | |
HP:0001933 | HP:0031364 | Ecchymosis | 3 | CDH23 CL E G H | 64072 | 13733 | ORPHA:96253 | Cushing disease | | | | 636 | | |
HP:0001933 | HP:0031364 | Ecchymosis | 3 | CHST14 CL E G H | 113189 | 24464 | OMIM:601776 | Ehlers-Danlos syndrome, musculocontractural type 1 | . | | | 27 | | |
HP:0001933 | HP:0000967 | Petechiae | 3 | CLCN7 CL E G H | 1186 | 2025 | OMIM:611490 | Osteopetrosis, autosomal recessive 4 | . | | | 102 | | |
HP:0001933 | HP:0031364 | Ecchymosis | 3 | COL1A1 CL E G H | 1277 | 2197 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 373 | | |
HP:0001933 | HP:0031364 | Ecchymosis | 3 | COL3A1 CL E G H | 1281 | 2201 | OMIM:130050 | Ehlers-Danlos syndrome, Vascular type | | | | 749 | | |
HP:0001933 | HP:0031364 | Ecchymosis | 3 | COL5A1 CL E G H | 1289 | 2209 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 660 | | |
HP:0001933 | HP:0031364 | Ecchymosis | 3 | COL5A2 CL E G H | 1290 | 2210 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 325 | | |
HP:0001933 | HP:0000967 | Petechiae | 3 | ETHE1 CL E G H | 23474 | 23287 | OMIM:602473 | Encephalopathy, ethylmalonic | . | | | 42 | | |
HP:0001933 | HP:0000967 | Petechiae | 3 | ETHE1 CL E G H | 23474 | 23287 | ORPHA:51188 | Ethylmalonic encephalopathy | HP:0040282 - Frequent | | | 42 | | |
HP:0001933 | HP:0000967 | Petechiae | 3 | ETV6 CL E G H | 2120 | 3495 | OMIM:616216 | Thrombocytopenia 5 | . | | | 13 | | |
HP:0001933 | HP:0031364 | Ecchymosis | 3 | F13A1 CL E G H | 2162 | 3531 | ORPHA:331 | Congenital factor XIII deficiency | HP:0040283 - Occasional | | | 60 | | |
HP:0001933 | HP:0031364 | Ecchymosis | 3 | F13A1 CL E G H | 2162 | 3531 | OMIM:613225 | Factor XIII, A subunit, deficiency of | . | | | 60 | | |
HP:0001933 | HP:0031364 | Ecchymosis | 3 | F13B CL E G H | 2165 | 3534 | ORPHA:331 | Congenital factor XIII deficiency | HP:0040283 - Occasional | | | 32 | | |
HP:0001933 | HP:0031364 | Ecchymosis | 3 | F13B CL E G H | 2165 | 3534 | OMIM:613235 | Factor XIIIB deficiency | . | | | 32 | | |
HP:0001933 | HP:0031364 | Ecchymosis | 3 | F2 CL E G H | 2147 | 3535 | OMIM:613679 | Congenital prothrombin deficiency | . | | | 44 | | |
HP:0001933 | HP:0000967 | Petechiae | 3 | FCGR2C CL E G H | 9103 | 15626 | ORPHA:3002 | Immune thrombocytopenia | HP:0040282 - Frequent | | | | | |
HP:0001933 | HP:0000967 | Petechiae | 3 | FERMT3 CL E G H | 83706 | 23151 | OMIM:612840 | Leukocyte adhesion deficiency, type III | . | | | 23 | | |
HP:0001933 | HP:0031364 | Ecchymosis | 3 | FIP1L1 CL E G H | 81608 | 19124 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 4 | | |
HP:0001933 | HP:0000967 | Petechiae | 3 | FIP1L1 CL E G H | 81608 | 19124 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 4 | | |
HP:0001933 | HP:0000967 | Petechiae | 3 | FYB1 CL E G H | 2533 | 4036 | OMIM:273900 | THROMBOCYTOPENIA 3; THC3 | | | | 4 | | |
HP:0001933 | HP:0000967 | Petechiae | 3 | GATA1 CL E G H | 2623 | 4170 | OMIM:314050 | Thrombocytopenia with beta-thalassemia, X-linked | . | | | 29 | | |
HP:0001933 | HP:0000967 | Petechiae | 3 | GATA1 CL E G H | 2623 | 4170 | OMIM:300367 | Thrombocytopenia, X-linked, with or without dyserythropoietic anemia | . | | | 29 | | |
HP:0001933 | HP:0000967 | Petechiae | 3 | GBA1 CL E G H | 2629 | 4177 | OMIM:608013 | Gaucher disease, perinatal lethal | . | | | | | |
HP:0001933 | HP:0031364 | Ecchymosis | 3 | GBA1 CL E G H | 2629 | 4177 | ORPHA:2072 | Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | HP:0040284 - Very rare | | | | | |
HP:0001933 | HP:0031364 | Ecchymosis | 3 | GFI1B CL E G H | 8328 | 4238 | OMIM:187900 | Bleeding disorder, platelet-type, 17 | . | | | 3 | | |
HP:0001933 | HP:0000967 | Petechiae | 3 | GFI1B CL E G H | 8328 | 4238 | OMIM:187900 | Bleeding disorder, platelet-type, 17 | . | | | 3 | | |
HP:0001933 | HP:0031364 | Ecchymosis | 3 | GGCX CL E G H | 2677 | 4247 | OMIM:277450 | VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1 | . | | | 129 | | |
HP:0001933 | HP:0000967 | Petechiae | 3 | GIMAP5 CL E G H | 55340 | 18005 | OMIM:619463 | PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2 | | | | | | |
HP:0001933 | HP:0031364 | Ecchymosis | 3 | GIMAP5 CL E G H | 55340 | 18005 | OMIM:619463 | PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2 | | | | | | |
HP:0001933 | HP:0000967 | Petechiae | 3 | GNA14 CL E G H | 9630 | 4382 | ORPHA:1063 | Tufted angioma | HP:0040283 - Occasional | | | | | |
HP:0001933 | HP:0000967 | Petechiae | 3 | GP1BA CL E G H | 2811 | 4439 | ORPHA:274 | Bernard-Soulier syndrome | HP:0040282 - Frequent | | | 23 | | |
HP:0001933 | HP:0000967 | Petechiae | 3 | GP1BA CL E G H | 2811 | 4439 | OMIM:153670 | Bernard-Soulier syndrome, type A2, autosomal dominant | . | | | 23 | | |
HP:0001933 | HP:0031364 | Ecchymosis | 3 | GP1BA CL E G H | 2811 | 4439 | OMIM:153670 | Bernard-Soulier syndrome, type A2, autosomal dominant | . | | | 23 | | |
HP:0001933 | HP:0031364 | Ecchymosis | 3 | GP1BA CL E G H | 2811 | 4439 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | HP:0040283 - Occasional | | | 23 | | |
HP:0001933 | HP:0000967 | Petechiae | 3 | GP1BA CL E G H | 2811 | 4439 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | HP:0040282 - Frequent | | | 23 | | |
HP:0001933 | HP:0000967 | Petechiae | 3 | GP1BB CL E G H | 2812 | 4440 | ORPHA:274 | Bernard-Soulier syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0001933 | HP:0031364 | Ecchymosis | 3 | GP1BB CL E G H | 2812 | 4440 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | HP:0040283 - Occasional | | | 8 | | |
HP:0001933 | HP:0000967 | Petechiae | 3 | GP1BB CL E G H | 2812 | 4440 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | HP:0040282 - Frequent | | | 8 | | |
HP:0001933 | HP:0031364 | Ecchymosis | 3 | GP6 CL E G H | 51206 | 14388 | OMIM:614201 | Bleeding disorder, platelet-type, 11 | . | | | 24 | | |
HP:0001933 | HP:0000967 | Petechiae | 3 | GP9 CL E G H | 2815 | 4444 | ORPHA:274 | Bernard-Soulier syndrome | HP:0040282 - Frequent | | | 21 | | |
HP:0001933 | HP:0000967 | Petechiae | 3 | HOXA11 CL E G H | 3207 | 5101 | OMIM:605432 | Radioulnar synostosis with amegakaryocytic thrombocytopenia | . | | | 3 | | |
HP:0001933 | HP:0031364 | Ecchymosis | 3 | HPS1 CL E G H | 3257 | 5163 | OMIM:203300 | Hermansky-Pudlak syndrome 1 | | | | 121 | | |
HP:0001933 | HP:0031364 | Ecchymosis | 3 | HPS6 CL E G H | 79803 | 18817 | OMIM:614075 | Hermansky-Pudlak syndrome 6 | | | | 45 | | |
HP:0001933 | HP:0031364 | Ecchymosis | 3 | IFNG CL E G H | 3458 | 5438 | ORPHA:88 | Idiopathic aplastic anemia | HP:0040283 - Occasional | | | 23 | | |
HP:0001933 | HP:0031364 | Ecchymosis | 3 | IRF2BP2 CL E G H | 359948 | 21729 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 4 | | |
HP:0001933 | HP:0000967 | Petechiae | 3 | IRF2BP2 CL E G H | 359948 | 21729 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 4 | | |
HP:0001933 | HP:0031364 | Ecchymosis | 3 | ITGA2 CL E G H | 3673 | 6137 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | HP:0040283 - Occasional | | | 119 | | |
HP:0001933 | HP:0000967 | Petechiae | 3 | ITGA2 CL E G H | 3673 | 6137 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | HP:0040282 - Frequent | | | 119 | | |
HP:0001933 | HP:0000967 | Petechiae | 3 | ITGA2B CL E G H | 3674 | 6138 | OMIM:187800 | Bleeding disorder, platelet-type, 16 | . | | | 69 | | |
HP:0001933 | HP:0031364 | Ecchymosis | 3 | ITGA2B CL E G H | 3674 | 6138 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | HP:0040283 - Occasional | | | 69 | | |
HP:0001933 | HP:0000967 | Petechiae | 3 | ITGA2B CL E G H | 3674 | 6138 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | HP:0040282 - Frequent | | | 69 | | |
HP:0001933 | HP:0031364 | Ecchymosis | 3 | ITGA2B CL E G H | 3674 | 6138 | ORPHA:849 | Glanzmann thrombasthenia | HP:0040283 - Occasional | | | 69 | | |
HP:0001933 | HP:0031364 | Ecchymosis | 3 | ITGA2B CL E G H | 3674 | 6138 | OMIM:273800 | Glanzmann thrombasthenia | | | | 69 | | |
HP:0001933 | HP:0000967 | Petechiae | 3 | ITGB3 CL E G H | 3690 | 6156 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | HP:0040282 - Frequent | | | 80 | | |
HP:0001933 | HP:0031364 | Ecchymosis | 3 | ITGB3 CL E G H | 3690 | 6156 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | HP:0040283 - Occasional | | | 80 | | |
HP:0001933 | HP:0031364 | Ecchymosis | 3 | ITGB3 CL E G H | 3690 | 6156 | ORPHA:849 | Glanzmann thrombasthenia | HP:0040283 - Occasional | | | 80 | | |
HP:0001933 | HP:0031364 | Ecchymosis | 3 | JAK2 CL E G H | 3717 | 6192 | ORPHA:824 | Primary myelofibrosis | HP:0040283 - Occasional | | | 57 | | |
HP:0001933 | HP:0000967 | Petechiae | 3 | JAK2 CL E G H | 3717 | 6192 | ORPHA:824 | Primary myelofibrosis | HP:0040283 - Occasional | | | 57 | | |
HP:0001933 | HP:0000967 | Petechiae | 3 | LCP2 CL E G H | 3937 | 6529 | OMIM:619374 | IMMUNODEFICIENCY 81; IMD81 | | | | | | |
HP:0001933 | HP:0031364 | Ecchymosis | 3 | MPL CL E G H | 4352 | 7217 | ORPHA:824 | Primary myelofibrosis | HP:0040283 - Occasional | | | 97 | | |
HP:0001933 | HP:0000967 | Petechiae | 3 | MPL CL E G H | 4352 | 7217 | ORPHA:824 | Primary myelofibrosis | HP:0040283 - Occasional | | | 97 | | |
HP:0001933 | HP:0031364 | Ecchymosis | 3 | NABP1 CL E G H | 64859 | 26232 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | | | |
HP:0001933 | HP:0000967 | Petechiae | 3 | NABP1 CL E G H | 64859 | 26232 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | | | |
HP:0001933 | HP:0000967 | Petechiae | 3 | NEU1 CL E G H | 4758 | 7758 | ORPHA:93400 | Congenital sialidosis type 2 | HP:0040283 - Occasional | | | 43 | | |
HP:0001933 | HP:0031364 | Ecchymosis | 3 | NPM1 CL E G H | 4869 | 7910 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 12 | | |
HP:0001933 | HP:0000967 | Petechiae | 3 | NPM1 CL E G H | 4869 | 7910 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 12 | | |
HP:0001933 | HP:0031364 | Ecchymosis | 3 | NR3C1 CL E G H | 2908 | 7978 | ORPHA:96253 | Cushing disease | | | | 79 | | |
HP:0001933 | HP:0000967 | Petechiae | 3 | NUMA1 CL E G H | 4926 | 8059 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | | | |
HP:0001933 | HP:0031364 | Ecchymosis | 3 | NUMA1 CL E G H | 4926 | 8059 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | | | |
HP:0001933 | HP:0000967 | Petechiae | 3 | OCLN CL E G H | 100506658 | 8104 | OMIM:251290 | Band-Like calcification with simplified gyration and polymicrogyria | . | | | 23 | | |
HP:0001933 | HP:0031364 | Ecchymosis | 3 | P2RY12 CL E G H | 64805 | 18124 | OMIM:609821 | Bleeding disorder, platelet-type, 8 | . | | | 5 | | |
HP:0001933 | HP:0000967 | Petechiae | 3 | PEPD CL E G H | 5184 | 8840 | OMIM:170100 | Prolidase deficiency | | | | 66 | | |
HP:0001933 | HP:0000967 | Petechiae | 3 | PML CL E G H | 5371 | 9113 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 3 | | |
HP:0001933 | HP:0031364 | Ecchymosis | 3 | PML CL E G H | 5371 | 9113 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 3 | | |
HP:0001933 | HP:0000967 | Petechiae | 3 | PRF1 CL E G H | 5551 | 9360 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040282 - Frequent | | | 58 | | |
HP:0001933 | HP:0031364 | Ecchymosis | 3 | PRF1 CL E G H | 5551 | 9360 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040282 - Frequent | | | 58 | | |
HP:0001933 | HP:0031364 | Ecchymosis | 3 | PRF1 CL E G H | 5551 | 9360 | ORPHA:88 | Idiopathic aplastic anemia | HP:0040283 - Occasional | | | 58 | | |
HP:0001933 | HP:0000967 | Petechiae | 3 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 134 | | |
HP:0001933 | HP:0031364 | Ecchymosis | 3 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 134 | | |
HP:0001933 | HP:0000967 | Petechiae | 3 | RAB27A CL E G H | 5873 | 9766 | ORPHA:79477 | Griscelli syndrome type 2 | HP:0040283 - Occasional | | | 67 | | |
HP:0001933 | HP:0031364 | Ecchymosis | 3 | RARA CL E G H | 5914 | 9864 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 2 | | |
HP:0001933 | HP:0000967 | Petechiae | 3 | RARA CL E G H | 5914 | 9864 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 2 | | |
HP:0001933 | HP:0000967 | Petechiae | 3 | SAMD9 CL E G H | 54809 | 1348 | OMIM:617053 | Mirage syndrome | . | | | 8 | | |
HP:0001933 | HP:0031364 | Ecchymosis | 3 | SBDS CL E G H | 51119 | 19440 | ORPHA:88 | Idiopathic aplastic anemia | HP:0040283 - Occasional | | | 26 | | |
HP:0001933 | HP:0000967 | Petechiae | 3 | STAT3 CL E G H | 6774 | 11364 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 110 | | |
HP:0001933 | HP:0031364 | Ecchymosis | 3 | STAT3 CL E G H | 6774 | 11364 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 110 | | |
HP:0001933 | HP:0000967 | Petechiae | 3 | STAT5B CL E G H | 6777 | 11367 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 12 | | |
HP:0001933 | HP:0031364 | Ecchymosis | 3 | STAT5B CL E G H | 6777 | 11367 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 12 | | |
HP:0001933 | HP:0031364 | Ecchymosis | 3 | STX11 CL E G H | 8676 | 11429 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040282 - Frequent | | | 85 | | |
HP:0001933 | HP:0000967 | Petechiae | 3 | STX11 CL E G H | 8676 | 11429 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040282 - Frequent | | | 85 | | |
HP:0001933 | HP:0031364 | Ecchymosis | 3 | STXBP2 CL E G H | 6813 | 11445 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040282 - Frequent | | | 70 | | |
HP:0001933 | HP:0000967 | Petechiae | 3 | STXBP2 CL E G H | 6813 | 11445 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040282 - Frequent | | | 70 | | |
HP:0001933 | HP:0000967 | Petechiae | 3 | TBL1XR1 CL E G H | 79718 | 29529 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 22 | | |
HP:0001933 | HP:0031364 | Ecchymosis | 3 | TBL1XR1 CL E G H | 79718 | 29529 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 22 | | |
HP:0001933 | HP:0031364 | Ecchymosis | 3 | TBXA2R CL E G H | 6915 | 11608 | OMIM:614009 | BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO; BDPLT13 | | | | 10 | | |
HP:0001933 | HP:0031364 | Ecchymosis | 3 | TERC CL E G H | 7012 | 11727 | ORPHA:88 | Idiopathic aplastic anemia | HP:0040283 - Occasional | | | 48 | | |
HP:0001933 | HP:0031364 | Ecchymosis | 3 | TERT CL E G H | 7015 | 11730 | ORPHA:88 | Idiopathic aplastic anemia | HP:0040283 - Occasional | | | 238 | | |
HP:0001933 | HP:0000967 | Petechiae | 3 | TET2 CL E G H | 54790 | 25941 | ORPHA:824 | Primary myelofibrosis | HP:0040283 - Occasional | | | 3 | | |
HP:0001933 | HP:0031364 | Ecchymosis | 3 | TET2 CL E G H | 54790 | 25941 | ORPHA:824 | Primary myelofibrosis | HP:0040283 - Occasional | | | 3 | | |
HP:0001933 | HP:0031364 | Ecchymosis | 3 | TP53 CL E G H | 7157 | 11998 | ORPHA:96253 | Cushing disease | | | | 911 | | |
HP:0001933 | HP:0000967 | Petechiae | 3 | TREX1 CL E G H | 11277 | 12269 | OMIM:225750 | Aicardi-Goutieres syndrome 1 | | | | 56 | | |
HP:0001933 | HP:0000967 | Petechiae | 3 | UNC13D CL E G H | 201294 | 23147 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040282 - Frequent | | | 116 | | |
HP:0001933 | HP:0031364 | Ecchymosis | 3 | UNC13D CL E G H | 201294 | 23147 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040282 - Frequent | | | 116 | | |
HP:0001933 | HP:0000967 | Petechiae | 3 | USP18 CL E G H | 11274 | 12616 | OMIM:617397 | Pseudo-Torch syndrome 2 | . | | | 2 | | |
HP:0001933 | HP:0031364 | Ecchymosis | 3 | USP48 CL E G H | 84196 | 18533 | ORPHA:96253 | Cushing disease | | | | 1 | | |
HP:0001933 | HP:0031364 | Ecchymosis | 3 | USP8 CL E G H | 9101 | 12631 | ORPHA:96253 | Cushing disease | | | | 7 | | |
HP:0001933 | HP:0031364 | Ecchymosis | 3 | USP8 CL E G H | 9101 | 12631 | OMIM:219090 | Pituitary adenoma 4, ACTH-secreting, somatic | . | | | 7 | | |
HP:0001933 | HP:0000967 | Petechiae | 3 | WAS CL E G H | 7454 | 12731 | OMIM:313900 | Thrombocytopenia 1 | . | | | 65 | | |
HP:0001933 | HP:0000967 | Petechiae | 3 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | . | | | 65 | | |
HP:0001933 | HP:0000967 | Petechiae | 3 | WAS CL E G H | 7454 | 12731 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040282 - Frequent | | | 65 | | |
HP:0001933 | HP:0000967 | Petechiae | 3 | WIPF1 CL E G H | 7456 | 12736 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0001933 | HP:0031364 | Ecchymosis | 3 | ZBTB16 CL E G H | 7704 | 12930 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 1 | | |
HP:0001933 | HP:0000967 | Petechiae | 3 | ZBTB16 CL E G H | 7704 | 12930 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 1 | | |