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:0001873 | HP:0001873 | Thrombocytopenia | 0 | ABCA1 CL E G H | 19 | 29 | ORPHA:31150 | Tangier disease | HP:0040283 - Occasional | | | 191 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | ABCD4 CL E G H | 5826 | 68 | OMIM:614857 | Methylmalonic aciduria and homocystinuria, Cblj type | . | | | 53 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | ABCG8 CL E G H | 64241 | 13887 | OMIM:210250 | Sitosterolemia 1 | | | | 76 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | ABL1 CL E G H | 25 | 76 | ORPHA:521 | Chronic myeloid leukemia | HP:0040282 - Frequent | | | 51 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | ACAD9 CL E G H | 28976 | 21497 | ORPHA:99901 | Acyl-CoA dehydrogenase 9 deficiency | HP:0040282 - Frequent | | | 98 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | ACAD9 CL E G H | 28976 | 21497 | OMIM:611126 | Mitochondrial complex I deficiency due to acad9 deficiency | . | | | 98 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | ACD CL E G H | 65057 | 25070 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | ACP5 CL E G H | 54 | 124 | ORPHA:1855 | Spondyloenchondrodysplasia | | | | 16 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | ACP5 CL E G H | 54 | 124 | OMIM:607944 | Spondyloenchondrodysplasia with immune dysregulation | | | | 16 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | ACTN1 CL E G H | 87 | 163 | OMIM:615193 | BLEEDING DISORDER, PLATELET-TYPE, 15; BDPLT15 | | | | 9 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | ADA CL E G H | 100 | 186 | OMIM:102700 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | | | | 75 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | ADA2 CL E G H | 51816 | 1839 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 22 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | ADAMTS13 CL E G H | 11093 | 1366 | OMIM:274150 | Thrombotic thrombocytopenic purpura, hereditary | . | | | 129 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | ADAR CL E G H | 103 | 225 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 116 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | ADAR CL E G H | 103 | 225 | OMIM:615010 | Aicardi-Goutieres syndrome 6 | | | | 116 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | ADH5 CL E G H | 128 | 253 | OMIM:619151 | AMED SYNDROME, DIGENIC; AMEDS | | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | AGK CL E G H | 55750 | 21869 | OMIM:212350 | Sengers syndrome | HP:0040283 - Occasional | | | 82 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | ALG12 CL E G H | 79087 | 19358 | ORPHA:79324 | ALG12-CDG | HP:0040283 - Occasional | | | 68 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | ALG8 CL E G H | 79053 | 23161 | ORPHA:79325 | ALG8-CDG | HP:0040282 - Frequent | | | 46 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | ALG8 CL E G H | 79053 | 23161 | OMIM:608104 | Congenital disorder of glycosylation, type Ih | . | | | 46 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | AMN CL E G H | 81693 | 14604 | ORPHA:35858 | Imerslund-Gräsbeck syndrome | HP:0040283 - Occasional | | | 25 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | ANKRD11 CL E G H | 29123 | 21316 | ORPHA:261250 | 16q24.3 microdeletion syndrome | HP:0040283 - Occasional | | | 102 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | ANKRD26 CL E G H | 22852 | 29186 | OMIM:188000 | THROMBOCYTOPENIA 2; THC2 | | | | 106 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | AP3B1 CL E G H | 8546 | 566 | OMIM:608233 | Hermansky-Pudlak syndrome 2 | | | | 83 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | APOE CL E G H | 348 | 613 | OMIM:269600 | Sea-Blue histiocyte disease | . | | | 39 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | APOE CL E G H | 348 | 613 | ORPHA:158029 | Sea-blue histiocytosis | HP:0040281 - Very frequent | | | 39 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | ARHGAP31 CL E G H | 57514 | 29216 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 147 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | ARHGEF1 CL E G H | 9138 | 681 | OMIM:618459 | Immunodeficiency 62 | | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | ARPC1B CL E G H | 10095 | 704 | OMIM:617718 | Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease | . | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | ASAH1 CL E G H | 427 | 735 | ORPHA:333 | Farber disease | HP:0040284 - Very rare | | | 78 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040283 - Occasional | | | 145 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040282 - Frequent | | | 145 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | ATP6AP1 CL E G H | 537 | 868 | OMIM:300972 | IMMUNODEFICIENCY 47; IMD47 | | | | 5 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | ATP7B CL E G H | 540 | 870 | OMIM:277900 | Wilson disease | | | | 315 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | ATP7B CL E G H | 540 | 870 | ORPHA:905 | Wilson disease | HP:0040281 - Very frequent | | | 315 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | ATRX CL E G H | 546 | 886 | ORPHA:231401 | Alpha-thalassemia-myelodysplastic syndrome | HP:0040281 - Very frequent | | | 169 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | BCOR CL E G H | 54880 | 20893 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 101 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | BCR CL E G H | 613 | 1014 | ORPHA:521 | Chronic myeloid leukemia | HP:0040282 - Frequent | | | 5 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | BLOC1S6 CL E G H | 26258 | 8549 | OMIM:614171 | Hermansky-Pudlak syndrome 9 | . | | | 35 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | BRAF CL E G H | 673 | 1097 | OMIM:163950 | Noonan syndrome 1 | | | | 276 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | BRCA1 CL E G H | 672 | 1100 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 5769 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | BRCA2 CL E G H | 675 | 1101 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 7642 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | BRIP1 CL E G H | 83990 | 20473 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 1086 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | BTK CL E G H | 695 | 1133 | ORPHA:47 | X-linked agammaglobulinemia | HP:0040283 - Occasional | | | 109 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | BTNL2 CL E G H | 56244 | 1142 | ORPHA:797 | Sarcoidosis | HP:0040282 - Frequent | | | 1 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | C3 CL E G H | 718 | 1318 | OMIM:612925 | Hemolytic uremic syndrome, atypical, susceptibility to, 5 | . | | | 92 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | CA2 CL E G H | 760 | 1373 | ORPHA:2785 | Osteopetrosis with renal tubular acidosis | HP:0040282 - Frequent | | | 29 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | CALR CL E G H | 811 | 1455 | ORPHA:824 | Primary myelofibrosis | HP:0040282 - Frequent | | | 1 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 87 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | CASP10 CL E G H | 843 | 1500 | OMIM:603909 | Autoimmune lymphoproliferative syndrome, type IIA | | | | 87 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | CBL CL E G H | 867 | 1541 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040283 - Occasional | | | 317 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | CD109 CL E G H | 135228 | 21685 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | CD19 CL E G H | 930 | 1633 | ORPHA:1572 | Common variable immunodeficiency | | | | 38 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | CD36 CL E G H | 948 | 1663 | OMIM:608404 | Platelet glycoprotein IV deficiency | . | | | 53 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | CD40LG CL E G H | 959 | 11935 | OMIM:308230 | Immunodeficiency, X-linked, with hyper-IgM | . | | | 33 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | CD46 CL E G H | 4179 | 6953 | ORPHA:244242 | HELLP syndrome | HP:0040280 - Obligate | | | 39 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | CD46 CL E G H | 4179 | 6953 | OMIM:612922 | Hemolytic uremic syndrome, atypical, susceptibility to, 2 | . | | | 39 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | CD81 CL E G H | 975 | 1701 | ORPHA:1572 | Common variable immunodeficiency | | | | 1 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | CD81 CL E G H | 975 | 1701 | OMIM:613496 | Immunodeficiency, common variable, 6 | | | | 1 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | CDC40 CL E G H | 51362 | 17350 | OMIM:619302 | PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15 | | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | CDC42 CL E G H | 998 | 1736 | ORPHA:487796 | Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | CDC42 CL E G H | 998 | 1736 | OMIM:616737 | Takenouchi-Kosaki syndrome | HP:0040284 - Very rare | | | 6 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | CFB CL E G H | 629 | 1037 | OMIM:612924 | Hemolytic uremic syndrome, atypical, susceptibility to, 4 | . | | | 30 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | CFH CL E G H | 3075 | 4883 | ORPHA:244242 | HELLP syndrome | HP:0040280 - Obligate | | | 86 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | CFH CL E G H | 3075 | 4883 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | . | | | 86 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | CFHR1 CL E G H | 3078 | 4888 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | . | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | CFHR3 CL E G H | 10878 | 16980 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | . | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | CFI CL E G H | 3426 | 5394 | ORPHA:244242 | HELLP syndrome | HP:0040280 - Obligate | | | 57 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | CFI CL E G H | 3426 | 5394 | OMIM:612923 | Hemolytic uremic syndrome, atypical, susceptibility to, 3 | . | | | 57 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | CIITA CL E G H | 4261 | 7067 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 118 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | CLCN7 CL E G H | 1186 | 2025 | OMIM:611490 | Osteopetrosis, autosomal recessive 4 | . | | | 102 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | CLPB CL E G H | 81570 | 30664 | OMIM:616271 | 3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | | | | 38 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | COG1 CL E G H | 9382 | 6545 | OMIM:611209 | Congenital disorder of glycosylation, type IIg | . | | | 52 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | COG4 CL E G H | 25839 | 18620 | ORPHA:263501 | COG4-CDG | HP:0040282 - Frequent | | | 67 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | COG6 CL E G H | 57511 | 18621 | OMIM:614576 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L | | | | 71 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | COL4A5 CL E G H | 1287 | 2207 | OMIM:301050 | Alport syndrome, X-linked | . | | | 678 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | CORIN CL E G H | 10699 | 19012 | ORPHA:275555 | Preeclampsia | HP:0040284 - Very rare | | | 5 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | CR2 CL E G H | 1380 | 2336 | ORPHA:1572 | Common variable immunodeficiency | | | | 10 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | CTC1 CL E G H | 80169 | 26169 | OMIM:612199 | Cerebroretinal microangiopathy with calcifications and cysts | HP:0040283 - Occasional | | | 160 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | CTC1 CL E G H | 80169 | 26169 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 160 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | CTLA4 CL E G H | 1493 | 2505 | OMIM:616100 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5 | | | | 10 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | CTLA4 CL E G H | 1493 | 2505 | OMIM:152700 | Systemic lupus erythematosus | . | | | 10 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | CTNNBL1 CL E G H | 56259 | 15879 | OMIM:619846 | | | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | CUBN CL E G H | 8029 | 2548 | ORPHA:35858 | Imerslund-Gräsbeck syndrome | HP:0040283 - Occasional | | | 273 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | CYCS CL E G H | 54205 | 19986 | OMIM:612004 | Thrombocytopenia 4 | . | | | 82 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:603554 | Omenn syndrome | . | | | 94 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | DEF6 CL E G H | 50619 | 2760 | OMIM:619573 | IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87 | | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | DGKE CL E G H | 8526 | 2852 | OMIM:615008 | Nephrotic syndrome, type 7 | HP:0040283 - Occasional | | | 17 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | DGUOK CL E G H | 1716 | 2858 | OMIM:251880 | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | . | | | 57 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | DHFR CL E G H | 1719 | 2861 | OMIM:613839 | Megaloblastic anemia due to dihydrofolate reductase deficiency | . | | | 7 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | DIAPH1 CL E G H | 1729 | 2876 | OMIM:124900 | Deafness, autosomal dominant 1 | HP:0040283 - Occasional | | | 118 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | DKC1 CL E G H | 1736 | 2890 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 65 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | DKC1 CL E G H | 1736 | 2890 | OMIM:305000 | Dyskeratosis congenita, X-linked | . | | | 65 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | DKC1 CL E G H | 1736 | 2890 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040281 - Very frequent | | | 65 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | DLL4 CL E G H | 54567 | 2910 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | DNAJC21 CL E G H | 134218 | 27030 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | DNAJC21 CL E G H | 134218 | 27030 | OMIM:260400 | Shwachman-Diamond syndrome 1 | . | | | 5 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | DNASE1 CL E G H | 1773 | 2956 | OMIM:152700 | Systemic lupus erythematosus | . | | | 3 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | DOCK2 CL E G H | 1794 | 2988 | OMIM:616433 | Immunodeficiency 40 | | | | 6 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | DOCK6 CL E G H | 57572 | 19189 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 18 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | DZIP1L CL E G H | 199221 | 26551 | ORPHA:731 | Autosomal recessive polycystic kidney disease | HP:0040283 - Occasional | | | 4 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | EFL1 CL E G H | 79631 | 25789 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | EFL1 CL E G H | 79631 | 25789 | OMIM:617941 | Shwachman-Diamond syndrome 2 | . | | | 1 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | ELANE CL E G H | 1991 | 3309 | ORPHA:2686 | Cyclic neutropenia | HP:0040283 - Occasional | | | 79 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | EOGT CL E G H | 285203 | 28526 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | ERBB3 CL E G H | 2065 | 3431 | OMIM:133180 | Erythroleukemia, familial, susceptibility to | . | | | 12 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 158 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | ERCC6L2 CL E G H | 375748 | 26922 | OMIM:615715 | Bone marrow failure syndrome 2 | . | | | 4 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | ESCO2 CL E G H | 157570 | 27230 | ORPHA:3103 | Roberts syndrome | HP:0040283 - Occasional | | | 92 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | ETV6 CL E G H | 2120 | 3495 | OMIM:616216 | Thrombocytopenia 5 | . | | | 13 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | FANCA CL E G H | 2175 | 3582 | OMIM:227650 | Fanconi anemia | . | | | 340 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | FANCA CL E G H | 2175 | 3582 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 340 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | FANCB CL E G H | 2187 | 3583 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 58 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | FANCB CL E G H | 2187 | 3583 | OMIM:300514 | FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB | | | | 58 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | FANCC CL E G H | 2176 | 3584 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 410 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | FANCC CL E G H | 2176 | 3584 | OMIM:227645 | Fanconi anemia, complementation group C | | | | 410 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | FANCD2 CL E G H | 2177 | 3585 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 147 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | FANCD2 CL E G H | 2177 | 3585 | OMIM:227646 | Fanconi anemia, complementation group D2 | | | | 147 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | FANCE CL E G H | 2178 | 3586 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 73 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | FANCE CL E G H | 2178 | 3586 | OMIM:600901 | Fanconi anemia, complementation group E | . | | | 73 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | FANCF CL E G H | 2188 | 3587 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 87 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | FANCF CL E G H | 2188 | 3587 | OMIM:603467 | FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF | | | | 87 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | FANCG CL E G H | 2189 | 3588 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 73 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | FANCG CL E G H | 2189 | 3588 | OMIM:614082 | FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG | | | | 73 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | FANCI CL E G H | 55215 | 25568 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 157 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | FANCL CL E G H | 55120 | 20748 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 53 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | FANCM CL E G H | 57697 | 23168 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 107 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | FARS2 CL E G H | 10667 | 21062 | OMIM:614946 | Combined oxidative phosphorylation deficiency 14 | HP:0040283 - Occasional | | | 36 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 59 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | FAS CL E G H | 355 | 11920 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | | | | 59 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 37 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | FASLG CL E G H | 356 | 11936 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | | | | 37 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | FCGR2A CL E G H | 2212 | 3616 | OMIM:152700 | Systemic lupus erythematosus | . | | | 6 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | FCGR2B CL E G H | 2213 | 3618 | OMIM:152700 | Systemic lupus erythematosus | . | | | 2 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | FCGR2C CL E G H | 9103 | 15626 | ORPHA:3002 | Immune thrombocytopenia | HP:0040281 - Very frequent | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | FIP1L1 CL E G H | 81608 | 19124 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 4 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | FLI1 CL E G H | 2313 | 3749 | OMIM:617443 | Bleeding disorder, platelet-type, 21 | HP:0040284 - Very rare | | | 8 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | FLI1 CL E G H | 2313 | 3749 | ORPHA:2308 | Jacobsen syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:300048 | Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked | . | | | 493 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | FLT1 CL E G H | 2321 | 3763 | ORPHA:275555 | Preeclampsia | HP:0040284 - Very rare | | | 11 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | FOXP3 CL E G H | 50943 | 6106 | ORPHA:37042 | Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | | | | 32 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | FOXP3 CL E G H | 50943 | 6106 | OMIM:304790 | Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked | | | | 32 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | FYB1 CL E G H | 2533 | 4036 | OMIM:273900 | THROMBOCYTOPENIA 3; THC3 | | | | 4 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | G6PC3 CL E G H | 92579 | 24861 | OMIM:612541 | Neutropenia, severe congenital, 4, autosomal recessive | . | | | 37 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | GALC CL E G H | 2581 | 4115 | OMIM:245200 | Krabbe disease | | | | 160 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | GATA1 CL E G H | 2623 | 4170 | OMIM:300835 | Anemia, X-linked, with or without neutropenia and/or platelet abnormalities | HP:0040283 - Occasional | HP:0003584 - Late onset | | 29 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | GATA1 CL E G H | 2623 | 4170 | ORPHA:231393 | Beta-thalassemia-X-linked thrombocytopenia syndrome | HP:0040281 - Very frequent | | | 29 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | GATA1 CL E G H | 2623 | 4170 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 29 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | GATA1 CL E G H | 2623 | 4170 | ORPHA:79277 | Congenital erythropoietic porphyria | HP:0040283 - Occasional | | | 29 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | GATA1 CL E G H | 2623 | 4170 | OMIM:314050 | Thrombocytopenia with beta-thalassemia, X-linked | . | | | 29 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | GATA1 CL E G H | 2623 | 4170 | ORPHA:67044 | Thrombocytopenia with congenital dyserythropoietic anemia | | | | 29 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | GATA1 CL E G H | 2623 | 4170 | OMIM:300367 | Thrombocytopenia, X-linked, with or without dyserythropoietic anemia | | | | 29 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | GATA2 CL E G H | 2624 | 4171 | ORPHA:3226 | Deafness-lymphedema-leukemia syndrome | HP:0040281 - Very frequent | | | 137 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:85212 | Fetal Gaucher disease | HP:0040281 - Very frequent | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:77259 | Gaucher disease type 1 | HP:0040281 - Very frequent | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:77261 | Gaucher disease type 3 | HP:0040282 - Frequent | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:608013 | Gaucher disease, perinatal lethal | . | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:230800 | Gaucher disease, type I | . | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:230900 | Gaucher disease, type II | . | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:231000 | Gaucher disease, type III | . | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:2072 | Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | HP:0040282 - Frequent | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | GFI1B CL E G H | 8328 | 4238 | OMIM:187900 | Bleeding disorder, platelet-type, 17 | . | | | 3 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | GIMAP5 CL E G H | 55340 | 18005 | OMIM:619463 | PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2 | | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | GNA14 CL E G H | 9630 | 4382 | ORPHA:1063 | Tufted angioma | HP:0040283 - Occasional | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | GP1BA CL E G H | 2811 | 4439 | ORPHA:274 | Bernard-Soulier syndrome | | | | 23 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | GP1BA CL E G H | 2811 | 4439 | OMIM:231200 | BERNARD-SOULIER SYNDROME; BSS | | | | 23 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | GP1BA CL E G H | 2811 | 4439 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | | | | 23 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | GP1BA CL E G H | 2811 | 4439 | OMIM:177820 | Pseudo-Von willebrand disease | | | | 23 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | GP1BB CL E G H | 2812 | 4440 | ORPHA:274 | Bernard-Soulier syndrome | | | | 8 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | GP1BB CL E G H | 2812 | 4440 | OMIM:231200 | BERNARD-SOULIER SYNDROME; BSS | | | | 8 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | GP1BB CL E G H | 2812 | 4440 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | | | | 8 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | GP9 CL E G H | 2815 | 4444 | ORPHA:274 | Bernard-Soulier syndrome | | | | 21 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | GP9 CL E G H | 2815 | 4444 | OMIM:231200 | BERNARD-SOULIER SYNDROME; BSS | | | | 21 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | GUCY1A1 CL E G H | 2982 | 4685 | ORPHA:401945 | Moyamoya disease with early-onset achalasia | HP:0040283 - Occasional | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | HEATR3 CL E G H | 55027 | 26087 | OMIM:620072 | | | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | HELLPAR CL E G H | 101101692 | 43984 | ORPHA:244242 | HELLP syndrome | HP:0040280 - Obligate | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:36426 | Stevens-Johnson syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:797 | Sarcoidosis | HP:0040282 - Frequent | | | 2 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | HLCS CL E G H | 3141 | 4976 | ORPHA:79242 | Holocarboxylase synthetase deficiency | HP:0040283 - Occasional | | | 148 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | HLCS CL E G H | 3141 | 4976 | OMIM:253270 | Holocarboxylase synthetase deficiency | . | | | 148 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | HOXA11 CL E G H | 3207 | 5101 | ORPHA:71289 | Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome | | | | 3 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | HOXA11 CL E G H | 3207 | 5101 | OMIM:605432 | Radioulnar synostosis with amegakaryocytic thrombocytopenia | | | | 3 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | HSCB CL E G H | 150274 | 28913 | OMIM:619523 | ANEMIA, SIDEROBLASTIC, 5; SIDBA5 | | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | ICOS CL E G H | 29851 | 5351 | ORPHA:1572 | Common variable immunodeficiency | | | | 32 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | IFIH1 CL E G H | 64135 | 18873 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 28 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | IFIH1 CL E G H | 64135 | 18873 | OMIM:615846 | Aicardi-Goutieres syndrome 7 | HP:0040283 - Occasional | | | 28 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | IFNG CL E G H | 3458 | 5438 | ORPHA:88 | Idiopathic aplastic anemia | HP:0040283 - Occasional | | | 23 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | IKZF1 CL E G H | 10320 | 13176 | ORPHA:36426 | Stevens-Johnson syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | IKZF5 CL E G H | 64376 | 14283 | OMIM:619130 | THROMBOCYTOPENIA 7; THC7 | | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | IL6ST CL E G H | 3572 | 6021 | OMIM:619751 | STUVE-WIEDEMANN SYNDROME 2; STWS2 | | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | IL7R CL E G H | 3575 | 6024 | ORPHA:169154 | T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency | | | | 94 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | IRAK1 CL E G H | 3654 | 6112 | ORPHA:93552 | Pediatric systemic lupus erythematosus | HP:0040282 - Frequent | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | IRF2BP2 CL E G H | 359948 | 21729 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 4 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | IRF2BP2 CL E G H | 359948 | 21729 | ORPHA:1572 | Common variable immunodeficiency | | | | 4 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | IRF8 CL E G H | 3394 | 5358 | OMIM:226990 | Immunodeficiency 32B | | | | 5 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | ITGA2 CL E G H | 3673 | 6137 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | | | | 119 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | ITGA2B CL E G H | 3674 | 6138 | OMIM:187800 | Bleeding disorder, platelet-type, 16 | | | | 69 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | ITGA2B CL E G H | 3674 | 6138 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | | | | 69 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | ITGB3 CL E G H | 3690 | 6156 | OMIM:619271 | BLEEDING DISORDER, PLATELET-TYPE, 24; BDPLT24 | | | | 80 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | ITGB3 CL E G H | 3690 | 6156 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | | | | 80 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | ITK CL E G H | 3702 | 6171 | OMIM:613011 | LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1 | | | | 51 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | IVD CL E G H | 3712 | 6186 | OMIM:243500 | Isovaleric acidemia | . | | | 105 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | JAK2 CL E G H | 3717 | 6192 | ORPHA:824 | Primary myelofibrosis | HP:0040282 - Frequent | | | 57 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | JAM2 CL E G H | 58494 | 14686 | ORPHA:1980 | Bilateral striopallidodentate calcinosis | HP:0040281 - Very frequent | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | KDM6A CL E G H | 7403 | 12637 | OMIM:147920 | Kabuki syndrome 1 | | | | 53 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | KIF15 CL E G H | 56992 | 17273 | OMIM:619981 | | | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | KIF15 CL E G H | 56992 | 17273 | ORPHA:261323 | 21q22.11q22.12 microdeletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | KIT CL E G H | 3815 | 6342 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040282 - Frequent | | | 327 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | KMT2D CL E G H | 8085 | 7133 | OMIM:147920 | Kabuki syndrome 1 | | | | 660 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | KRAS CL E G H | 3845 | 6407 | OMIM:614470 | RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic | | | | 196 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | LARS2 CL E G H | 23395 | 17095 | OMIM:617021 | Hydrops, lactic acidosis, and sideroblastic anemia | . | | | 54 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | LAT CL E G H | 27040 | 18874 | OMIM:617514 | Immunodeficiency 52 | | | | 2 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | LBR CL E G H | 3930 | 6518 | OMIM:169400 | Pelger-Huet anomaly | | | | 70 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | LIG4 CL E G H | 3981 | 6601 | ORPHA:235 | Dubowitz syndrome | HP:0040283 - Occasional | | | 88 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | LIG4 CL E G H | 3981 | 6601 | OMIM:606593 | Lig4 syndrome | . | | | 88 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | LIPA CL E G H | 3988 | 6617 | OMIM:278000 | Lysosomal acid lipase deficiency | | | | 73 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | LMBRD1 CL E G H | 55788 | 23038 | OMIM:277380 | Methylmalonic aciduria and homocystinuria, Cblf type | . | | | 46 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | LRBA CL E G H | 987 | 1742 | OMIM:614700 | IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8 | | | | 45 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | LSM11 CL E G H | 134353 | 30860 | ORPHA:51 | Aicardi-Goutières syndrome | | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | LYST CL E G H | 1130 | 1968 | ORPHA:167 | Chédiak-Higashi syndrome | HP:0040283 - Occasional | | | 239 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | LYST CL E G H | 1130 | 1968 | OMIM:214500 | Chediak-Higashi syndrome | | | | 239 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | MAD2L2 CL E G H | 10459 | 6764 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 1 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | MAD2L2 CL E G H | 10459 | 6764 | OMIM:617243 | Fanconi anemia, complementation group V | . | | | 1 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | MADD CL E G H | 8567 | 6766 | OMIM:619004 | DEEAH SYNDROME; DEEAH | | | | 5 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | MADD CL E G H | 8567 | 6766 | OMIM:619005 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH | | | | 5 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | MAGT1 CL E G H | 84061 | 28880 | OMIM:300853 | IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN | | | | 17 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | MAP2K1 CL E G H | 5604 | 6840 | OMIM:163950 | Noonan syndrome 1 | | | | 134 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | MECOM CL E G H | 2122 | 3498 | ORPHA:71289 | Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome | | | | 4 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | MECOM CL E G H | 2122 | 3498 | OMIM:616738 | RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2 | | | | 4 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:301068 | HARDIKAR SYNDROME; HDKR | | | | 228 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | MMAA CL E G H | 166785 | 18871 | OMIM:251100 | Methylmalonic aciduria, Cbla type | . | | | 113 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | MMAB CL E G H | 326625 | 19331 | OMIM:251110 | Methylmalonic aciduria, Cblb type | . | | | 127 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | MMACHC CL E G H | 25974 | 24525 | ORPHA:79282 | Methylmalonic acidemia with homocystinuria, type cblC | HP:0040282 - Frequent | | | 101 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | MMACHC CL E G H | 25974 | 24525 | OMIM:277400 | Methylmalonic aciduria and homocystinuria, Cblc type | . | | | 101 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | MMUT CL E G H | 4594 | 7526 | OMIM:251000 | Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency | . | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | MMUT CL E G H | 4594 | 7526 | ORPHA:79312 | Vitamin B12-unresponsive methylmalonic acidemia type mut- | HP:0040283 - Occasional | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | MMUT CL E G H | 4594 | 7526 | ORPHA:289916 | Vitamin B12-unresponsive methylmalonic acidemia type mut0 | HP:0040282 - Frequent | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | MOGS CL E G H | 7841 | 24862 | ORPHA:79330 | MOGS-CDG | HP:0040283 - Occasional | | | 37 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | MPIG6B CL E G H | 80739 | 13937 | OMIM:617441 | Thrombocytopenia, anemia, and myelofibrosis | . | | | 1 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | MPL CL E G H | 4352 | 7217 | OMIM:604498 | Amegakaryocytic thrombocytopenia, congenital | . | | | 97 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | MPL CL E G H | 4352 | 7217 | ORPHA:3319 | Congenital amegakaryocytic thrombocytopenia | HP:0040281 - Very frequent | | | 97 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | MPL CL E G H | 4352 | 7217 | ORPHA:824 | Primary myelofibrosis | HP:0040282 - Frequent | | | 97 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | MS4A1 CL E G H | 931 | 7315 | ORPHA:1572 | Common variable immunodeficiency | | | | 1 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | MTOR CL E G H | 2475 | 3942 | OMIM:616638 | Smith-Kingsmore syndrome | . | | | 68 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | MVK CL E G H | 4598 | 7530 | OMIM:610377 | Mevalonic aciduria | | | | 150 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | MYH9 CL E G H | 4627 | 7579 | OMIM:155100 | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | . | | | 297 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | MYH9 CL E G H | 4627 | 7579 | ORPHA:182050 | MYH9-related disease | | | | 297 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | MYORG CL E G H | 57462 | 19918 | ORPHA:1980 | Bilateral striopallidodentate calcinosis | HP:0040281 - Very frequent | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | MYSM1 CL E G H | 114803 | 29401 | OMIM:618116 | Bone marrow failure syndrome 4 | HP:0040284 - Very rare | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | MYSM1 CL E G H | 114803 | 29401 | ORPHA:508542 | Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome | HP:0040282 - Frequent | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | | | | 23 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | NABP1 CL E G H | 64859 | 26232 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | NBEAL2 CL E G H | 23218 | 31928 | ORPHA:721 | Gray platelet syndrome | HP:0040281 - Very frequent | | | 127 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | NBEAL2 CL E G H | 23218 | 31928 | OMIM:139090 | Gray platelet syndrome | . | | | 127 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | NBN CL E G H | 4683 | 7652 | OMIM:251260 | Nijmegen breakage syndrome | . | | | 706 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | NBN CL E G H | 4683 | 7652 | ORPHA:647 | Nijmegen breakage syndrome | HP:0040281 - Very frequent | | | 706 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | NFKB1 CL E G H | 4790 | 7794 | ORPHA:1572 | Common variable immunodeficiency | | | | 7 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | NFKB1 CL E G H | 4790 | 7794 | OMIM:616576 | IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12 | | | | 7 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:1572 | Common variable immunodeficiency | | | | 11 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:293978 | Deficiency in anterior pituitary function-variable immunodeficiency syndrome | | | | 11 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | NHEJ1 CL E G H | 79840 | 25737 | ORPHA:169079 | Cernunnos-XLF deficiency | HP:0040282 - Frequent | | | 20 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | NHP2 CL E G H | 55651 | 14377 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 27 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | NHP2 CL E G H | 55651 | 14377 | OMIM:224230 | Dyskeratosis congenita, autosomal recessive 1 | . | | | 27 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | NHP2 CL E G H | 55651 | 14377 | OMIM:613987 | Dyskeratosis congenita, autosomal recessive, 2 | . | | | 27 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | NIPBL CL E G H | 25836 | 28862 | OMIM:122470 | Cornelia de Lange syndrome 1 | . | | | 494 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | NLRC4 CL E G H | 58484 | 16412 | OMIM:616050 | AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC | | | | 30 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | NOP10 CL E G H | 55505 | 14378 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 17 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | NOP10 CL E G H | 55505 | 14378 | OMIM:224230 | Dyskeratosis congenita, autosomal recessive 1 | . | | | 17 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | NOS3 CL E G H | 4846 | 7876 | OMIM:189800 | Preeclampsia/eclampsia 1 | . | | | 8 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | NOTCH1 CL E G H | 4851 | 7881 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 452 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | NPM1 CL E G H | 4869 | 7910 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 12 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | NPM1 CL E G H | 4869 | 7910 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 12 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | NRAS CL E G H | 4893 | 7989 | OMIM:614470 | RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic | | | | 102 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | NSUN2 CL E G H | 54888 | 25994 | ORPHA:235 | Dubowitz syndrome | HP:0040283 - Occasional | | | 84 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | NUMA1 CL E G H | 4926 | 8059 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | OCLN CL E G H | 100506658 | 8104 | OMIM:251290 | Band-Like calcification with simplified gyration and polymicrogyria | . | | | 23 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | OCRL CL E G H | 4952 | 8108 | ORPHA:534 | Oculocerebrorenal syndrome of Lowe | HP:0040282 - Frequent | | | 88 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | OSTM1 CL E G H | 28962 | 21652 | OMIM:259720 | Osteopetrosis, autosomal recessive 5 | . | | | 73 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | OTUD5 CL E G H | 55593 | 25402 | OMIM:301056 | MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND | | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | PALB2 CL E G H | 79728 | 26144 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 1349 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | PARN CL E G H | 5073 | 8609 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 26 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | PARN CL E G H | 5073 | 8609 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040281 - Very frequent | | | 26 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | PCCA CL E G H | 5095 | 8653 | OMIM:606054 | Propionic acidemia | . | | | 96 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | PCCB CL E G H | 5096 | 8654 | OMIM:606054 | Propionic acidemia | . | | | 92 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | PDGFB CL E G H | 5155 | 8800 | ORPHA:1980 | Bilateral striopallidodentate calcinosis | HP:0040281 - Very frequent | | | 9 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | PDGFRB CL E G H | 5159 | 8804 | ORPHA:1980 | Bilateral striopallidodentate calcinosis | HP:0040281 - Very frequent | | | 28 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | PEPD CL E G H | 5184 | 8840 | OMIM:170100 | Prolidase deficiency | | | | 66 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | PHGDH CL E G H | 26227 | 8923 | OMIM:601815 | Phosphoglycerate dehydrogenase deficiency | . | | | 37 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | PIGA CL E G H | 5277 | 8957 | OMIM:301072 | NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH | | | | 46 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | PIGA CL E G H | 5277 | 8957 | ORPHA:447 | Paroxysmal nocturnal hemoglobinuria | HP:0040283 - Occasional | | | 46 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | PKHD1 CL E G H | 5314 | 9016 | ORPHA:731 | Autosomal recessive polycystic kidney disease | HP:0040283 - Occasional | | | 563 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | PLAU CL E G H | 5328 | 9052 | OMIM:601709 | Quebec platelet disorder | . | | | 50 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | PML CL E G H | 5371 | 9113 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 3 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | PNP CL E G H | 4860 | 7892 | OMIM:613179 | Immunodeficiency due to purine nucleoside phosphorylase deficiency | | | | 52 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | PNP CL E G H | 4860 | 7892 | ORPHA:760 | Purine nucleoside phosphorylase deficiency | | | | 52 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | POLRMT CL E G H | 5442 | 9200 | OMIM:619743 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55 | | | | 1 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | POMP CL E G H | 51371 | 20330 | OMIM:618048 | Proteasome-Associated autoinflammatory syndrome 2 | . | | | 2 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | PPIL1 CL E G H | 51645 | 9260 | OMIM:619301 | PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14 | | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | PRDX1 CL E G H | 5052 | 9352 | OMIM:277400 | Methylmalonic aciduria and homocystinuria, Cblc type | . | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | PRF1 CL E G H | 5551 | 9360 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040281 - Very frequent | | | 58 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | PRF1 CL E G H | 5551 | 9360 | OMIM:603553 | Hemophagocytic lymphohistiocytosis, familial, 2 | | | | 58 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | PRF1 CL E G H | 5551 | 9360 | ORPHA:88 | Idiopathic aplastic anemia | HP:0040283 - Occasional | | | 58 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | PRIM1 CL E G H | 5557 | 9369 | OMIM:620005 | | | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | PRKACG CL E G H | 5568 | 9382 | OMIM:616176 | Bleeding disorder, platelet-type, 19 | | | | 2 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 134 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 10 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | PRKCD CL E G H | 5580 | 9399 | OMIM:615559 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 | | | | 10 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | PRKCD CL E G H | 5580 | 9399 | ORPHA:1572 | Common variable immunodeficiency | | | | 10 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | PSAP CL E G H | 5660 | 9498 | OMIM:610539 | Gaucher disease, atypical | | | | 81 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | PSMB4 CL E G H | 5692 | 9541 | OMIM:617591 | Proteasome-Associated autoinflammatory syndrome 3 | . | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | PSMB8 CL E G H | 5696 | 9545 | OMIM:256040 | Proteasome-associated autoinflammatory syndrome 1 and digenic forms | | | | 20 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | PSMB9 CL E G H | 5698 | 9546 | OMIM:617591 | Proteasome-Associated autoinflammatory syndrome 3 | . | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | PTPN11 CL E G H | 5781 | 9644 | OMIM:163950 | Noonan syndrome 1 | | | | 291 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | PTPN22 CL E G H | 26191 | 9652 | OMIM:152700 | Systemic lupus erythematosus | . | | | 3 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | RAD51 CL E G H | 5888 | 9817 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 9 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | RAD51C CL E G H | 5889 | 9820 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 391 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | RAG1 CL E G H | 5896 | 9831 | OMIM:603554 | Omenn syndrome | . | | | 127 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | RAG1 CL E G H | 5896 | 9831 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | HP:0040283 - Occasional | | | 127 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | RAG2 CL E G H | 5897 | 9832 | OMIM:603554 | Omenn syndrome | . | | | 50 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | RAG2 CL E G H | 5897 | 9832 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | HP:0040283 - Occasional | | | 50 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | RARA CL E G H | 5914 | 9864 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 2 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | RASGRP1 CL E G H | 10125 | 9878 | OMIM:618534 | IMMUNODEFICIENCY 64; IMD64 | | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | RBM8A CL E G H | 9939 | 9905 | ORPHA:3320 | Thrombocytopenia-absent radius syndrome | HP:0040281 - Very frequent | | | 10 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | RBM8A CL E G H | 9939 | 9905 | OMIM:274000 | Thrombocytopenia-absent radius syndrome | | | | 10 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | RBPJ CL E G H | 3516 | 5724 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | RFWD3 CL E G H | 55159 | 25539 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | RFX5 CL E G H | 5993 | 9986 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 38 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | RFXANK CL E G H | 8625 | 9987 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 26 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | RFXAP CL E G H | 5994 | 9988 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 34 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | RNASEH2A CL E G H | 10535 | 18518 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 33 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | RNASEH2A CL E G H | 10535 | 18518 | OMIM:610333 | Aicardi-Goutieres syndrome 4 | | | | 33 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | RNASEH2B CL E G H | 79621 | 25671 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 34 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | RNASEH2C CL E G H | 84153 | 24116 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 60 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | RNASEH2C CL E G H | 84153 | 24116 | OMIM:610329 | Aicardi-Goutieres syndrome 3 | | | | 60 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | RNU7-1 CL E G H | 100147744 | 34033 | ORPHA:51 | Aicardi-Goutières syndrome | | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | RPL11 CL E G H | 6135 | 10301 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 22 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | RPL15 CL E G H | 6138 | 10306 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 3 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | RPL18 CL E G H | 6141 | 10310 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | RPL26 CL E G H | 6154 | 10327 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 3 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | RPL27 CL E G H | 6155 | 10328 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 1 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | RPL31 CL E G H | 6160 | 10334 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | RPL35 CL E G H | 11224 | 10344 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | RPL35A CL E G H | 6165 | 10345 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 11 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | RPL5 CL E G H | 6125 | 10360 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 40 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | RPS10 CL E G H | 6204 | 10383 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 26 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | RPS15A CL E G H | 6210 | 10389 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | RPS17 CL E G H | 6218 | 10397 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 5 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | RPS19 CL E G H | 6223 | 10402 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 42 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | RPS19 CL E G H | 6223 | 10402 | OMIM:105650 | Diamond-Blackfan anemia 1 | | | | 42 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | RPS20 CL E G H | 6224 | 10405 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 1 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | RPS24 CL E G H | 6229 | 10411 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 22 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | RPS26 CL E G H | 6231 | 10414 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 20 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | RPS27 CL E G H | 6232 | 10416 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 1 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | RPS28 CL E G H | 6234 | 10418 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 1 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | RPS29 CL E G H | 6235 | 10419 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 3 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | RPS7 CL E G H | 6201 | 10440 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 20 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | RRAS2 CL E G H | 22800 | 17271 | OMIM:618624 | NOONAN SYNDROME 12; NS12 | | | | 1 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | RTEL1 CL E G H | 51750 | 15888 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 77 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | RTEL1 CL E G H | 51750 | 15888 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040281 - Very frequent | | | 77 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | RUNX1 CL E G H | 861 | 10471 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040283 - Occasional | | | 181 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | RUNX1 CL E G H | 861 | 10471 | ORPHA:521 | Chronic myeloid leukemia | HP:0040282 - Frequent | | | 181 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | RUNX1 CL E G H | 861 | 10471 | OMIM:601399 | Platelet disorder, familial, with associated myeloid malignancy | . | | | 181 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:466650 | Exercise-induced malignant hyperthermia | HP:0040284 - Very rare | | | 1200 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | SALL4 CL E G H | 57167 | 15924 | OMIM:147750 | Ivic syndrome | | | | 86 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | SALL4 CL E G H | 57167 | 15924 | ORPHA:2307 | IVIC syndrome | HP:0040283 - Occasional | | | 86 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | SAMD9 CL E G H | 54809 | 1348 | OMIM:617053 | Mirage syndrome | . | | | 8 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | SAMD9 CL E G H | 54809 | 1348 | OMIM:619041 | MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2; M7MLS2 | | | | 8 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | SAMD9L CL E G H | 219285 | 1349 | OMIM:159550 | Ataxia-Pancytopenia syndrome | | | | 4 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | SAMD9L CL E G H | 219285 | 1349 | OMIM:252270 | Myelodysplasia and leukemia syndrome with monosomy 7 | . | | | 4 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | SAMHD1 CL E G H | 25939 | 15925 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 55 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | SAMHD1 CL E G H | 25939 | 15925 | OMIM:612952 | Aicardi-Goutieres syndrome 5 | . | | | 55 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | SARS2 CL E G H | 54938 | 17697 | OMIM:613845 | Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome | . | | | 60 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | SBDS CL E G H | 51119 | 19440 | ORPHA:88 | Idiopathic aplastic anemia | HP:0040283 - Occasional | | | 26 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | SBDS CL E G H | 51119 | 19440 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040282 - Frequent | | | 26 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | SBDS CL E G H | 51119 | 19440 | OMIM:260400 | Shwachman-Diamond syndrome 1 | . | | | 26 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | SC5D CL E G H | 6309 | 10547 | ORPHA:46059 | Lathosterolosis | HP:0040282 - Frequent | | | 80 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | SCARB2 CL E G H | 950 | 1665 | OMIM:254900 | Epilepsy, progressive myoclonic, 4, with or without renal failure | . | | | 77 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | SCARB2 CL E G H | 950 | 1665 | ORPHA:77259 | Gaucher disease type 1 | HP:0040281 - Very frequent | | | 77 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | SF3B1 CL E G H | 23451 | 10768 | ORPHA:75564 | Acquired idiopathic sideroblastic anemia | HP:0040283 - Occasional | | | 19 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | SH2D1A CL E G H | 4068 | 10820 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | . | | | 37 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | SLC19A2 CL E G H | 10560 | 10938 | ORPHA:49827 | Thiamine-responsive megaloblastic anemia syndrome | HP:0040282 - Frequent | | | 55 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | SLC19A2 CL E G H | 10560 | 10938 | OMIM:249270 | Thiamine-Responsive megaloblastic anemia syndrome | . | | | 55 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | SLC20A2 CL E G H | 6575 | 10947 | ORPHA:1980 | Bilateral striopallidodentate calcinosis | HP:0040281 - Very frequent | | | 70 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | SLC35A1 CL E G H | 10559 | 11021 | OMIM:603585 | Congenital disorder of glycosylation, type IIf | | | | 24 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | SLC35A1 CL E G H | 10559 | 11021 | ORPHA:238459 | SLC35A1-CDG | HP:0040281 - Very frequent | | | 24 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:619525 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W | | | | 110 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | SLC39A7 CL E G H | 7922 | 4927 | OMIM:619693 | AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9 | | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | SLC46A1 CL E G H | 113235 | 30521 | OMIM:229050 | Folate malabsorption, hereditary | . | | | 101 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | SLC46A1 CL E G H | 113235 | 30521 | ORPHA:90045 | Hereditary folate malabsorption | HP:0040283 - Occasional | | | 101 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | SLC7A7 CL E G H | 9056 | 11065 | ORPHA:470 | Lysinuric protein intolerance | HP:0040282 - Frequent | | | 104 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | SLC7A7 CL E G H | 9056 | 11065 | OMIM:222700 | Lysinuric protein intolerance | . | | | 104 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | SLFN14 CL E G H | 342618 | 32689 | OMIM:616913 | Bleeding disorder, platelet-type, 20 | . | | | 6 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | SLX4 CL E G H | 84464 | 23845 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 274 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | SMARCAL1 CL E G H | 50485 | 11102 | OMIM:242900 | Immunoosseous dysplasia, Schimke type | . | | | 74 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | HP:0040283 - Occasional | | | 74 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | SMARCD2 CL E G H | 6603 | 11107 | OMIM:617475 | SPECIFIC GRANULE DEFICIENCY 2; SGD2 | | | | 3 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | SMPD1 CL E G H | 6609 | 11120 | ORPHA:77293 | Niemann-Pick disease type B | HP:0040282 - Frequent | | | 164 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | SMPD1 CL E G H | 6609 | 11120 | OMIM:607616 | Niemann-pick disease, type B | | | | 164 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | SNX10 CL E G H | 29887 | 14974 | OMIM:615085 | Osteopetrosis, autosomal recessive 8 | . | | | 2 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | SOCS1 CL E G H | 8651 | 19383 | OMIM:619375 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD | | | | 6 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | SOS1 CL E G H | 6654 | 11187 | OMIM:610733 | Noonan syndrome 4 | | | | 315 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | SP110 CL E G H | 3431 | 5401 | ORPHA:79124 | Hepatic veno-occlusive disease-immunodeficiency syndrome | HP:0040283 - Occasional | | | 49 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | SPATA5 CL E G H | 166378 | 18119 | OMIM:616577 | Epilepsy, hearing loss, and mental retardation syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | SPATA5 CL E G H | 166378 | 18119 | ORPHA:457351 | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | SPP1 CL E G H | 6696 | 11255 | ORPHA:93552 | Pediatric systemic lupus erythematosus | HP:0040282 - Frequent | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | SRC CL E G H | 6714 | 11283 | OMIM:616937 | Thrombocytopenia 6 | | | | 15 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | SRP54 CL E G H | 6729 | 11301 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040282 - Frequent | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | SRP54 CL E G H | 6729 | 11301 | OMIM:260400 | Shwachman-Diamond syndrome 1 | . | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | SRSF2 CL E G H | 6427 | 10783 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040283 - Occasional | | | 1 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | SRSF2 CL E G H | 6427 | 10783 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040282 - Frequent | | | 1 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | STAT1 CL E G H | 6772 | 11362 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | HP:0040283 - Occasional | | | 89 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | STAT2 CL E G H | 6773 | 11363 | OMIM:618886 | PSEUDO-TORCH SYNDROME 3; PTORCH3 | | | | 9 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | STAT3 CL E G H | 6774 | 11364 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 110 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | STAT3 CL E G H | 6774 | 11364 | OMIM:615952 | AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1 | | | | 110 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | STAT4 CL E G H | 6775 | 11365 | ORPHA:93552 | Pediatric systemic lupus erythematosus | HP:0040282 - Frequent | | | 2 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | STAT5B CL E G H | 6777 | 11367 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 12 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | STIM1 CL E G H | 6786 | 11386 | OMIM:612783 | Immunodeficiency 10 | . | | | 31 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | STIM1 CL E G H | 6786 | 11386 | OMIM:185070 | Stormorken syndrome | . | | | 31 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | STOX1 CL E G H | 219736 | 23508 | ORPHA:275555 | Preeclampsia | HP:0040284 - Very rare | | | 2 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | STT3B CL E G H | 201595 | 30611 | OMIM:615597 | Congenital disorder of glycosylation, type Ix | . | | | 18 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | STT3B CL E G H | 201595 | 30611 | ORPHA:370924 | STT3B-CDG | HP:0040282 - Frequent | | | 18 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | STX11 CL E G H | 8676 | 11429 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040281 - Very frequent | | | 85 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | STX11 CL E G H | 8676 | 11429 | OMIM:603552 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4 | | | | 85 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | STXBP2 CL E G H | 6813 | 11445 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040281 - Very frequent | | | 70 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | STXBP2 CL E G H | 6813 | 11445 | OMIM:613101 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5 | | | | 70 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | TALDO1 CL E G H | 6888 | 11559 | ORPHA:101028 | Transaldolase deficiency | HP:0040281 - Very frequent | | | 34 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | TALDO1 CL E G H | 6888 | 11559 | OMIM:606003 | Transaldolase deficiency | . | | | 34 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | TBL1XR1 CL E G H | 79718 | 29529 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 22 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | TBX1 CL E G H | 6899 | 11592 | OMIM:188400 | Digeorge syndrome | | | | 32 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | TBXAS1 CL E G H | 6916 | 11609 | OMIM:231095 | Ghosal hematodiaphyseal dysplasia | . | | | 16 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | TCIRG1 CL E G H | 10312 | 11647 | OMIM:259700 | Osteopetrosis, autosomal recessive 1 | | | | 82 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | TCN2 CL E G H | 6948 | 11653 | ORPHA:859 | Transcobalamin deficiency | HP:0040282 - Frequent | | | 57 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | TERC CL E G H | 7012 | 11727 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 48 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | TERC CL E G H | 7012 | 11727 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | . | | | 48 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | TERC CL E G H | 7012 | 11727 | ORPHA:88 | Idiopathic aplastic anemia | HP:0040283 - Occasional | | | 48 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 238 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | TERT CL E G H | 7015 | 11730 | OMIM:613989 | Dyskeratosis congenita, autosomal dominant 2 | . | | | 238 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | TERT CL E G H | 7015 | 11730 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | . | | | 238 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040281 - Very frequent | | | 238 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:88 | Idiopathic aplastic anemia | HP:0040283 - Occasional | | | 238 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:75564 | Acquired idiopathic sideroblastic anemia | HP:0040283 - Occasional | | | 3 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040283 - Occasional | | | 3 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:824 | Primary myelofibrosis | HP:0040282 - Frequent | | | 3 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:98826 | Refractory anemia | HP:0040284 - Very rare | | | 3 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040282 - Frequent | | | 3 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | TFRC CL E G H | 7037 | 11763 | OMIM:616740 | Immunodeficiency 46 | | | | 1 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | THBD CL E G H | 7056 | 11784 | OMIM:612926 | Hemolytic uremic syndrome, atypical, susceptibility to, 6 | . | | | 60 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | THPO CL E G H | 7066 | 11795 | ORPHA:3319 | Congenital amegakaryocytic thrombocytopenia | HP:0040281 - Very frequent | | | 23 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | TINF2 CL E G H | 26277 | 11824 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 60 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | TINF2 CL E G H | 26277 | 11824 | OMIM:613990 | Dyskeratosis congenita, autosomal dominant 3 | . | | | 60 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | TINF2 CL E G H | 26277 | 11824 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | . | | | 60 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | TINF2 CL E G H | 26277 | 11824 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040281 - Very frequent | | | 60 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | TLR7 CL E G H | 51284 | 15631 | OMIM:301080 | | | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | TLR8 CL E G H | 51311 | 15632 | OMIM:301078 | IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98 | | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | TMEM165 CL E G H | 55858 | 30760 | OMIM:614727 | Congenital disorder of glycosylation, type IIK | . | | | 24 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | TNFAIP3 CL E G H | 7128 | 11896 | OMIM:616744 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL | | | | 26 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | TNFRSF13B CL E G H | 23495 | 18153 | ORPHA:1572 | Common variable immunodeficiency | | | | 32 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | TNFRSF13C CL E G H | 115650 | 17755 | ORPHA:1572 | Common variable immunodeficiency | | | | 12 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | TNFSF11 CL E G H | 8600 | 11926 | OMIM:259710 | Osteopetrosis, autosomal recessive 2 | . | | | 44 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | TNFSF12 CL E G H | 8742 | 11927 | ORPHA:1572 | Common variable immunodeficiency | | | | 1 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | TOM1 CL E G H | 10043 | 11982 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | HP:0040283 - Occasional | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | TPP2 CL E G H | 7174 | 12016 | ORPHA:444463 | Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome | | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | TPP2 CL E G H | 7174 | 12016 | OMIM:619220 | IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78 | | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | TREX1 CL E G H | 11277 | 12269 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 56 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | TREX1 CL E G H | 11277 | 12269 | OMIM:225750 | Aicardi-Goutieres syndrome 1 | | | | 56 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | TREX1 CL E G H | 11277 | 12269 | OMIM:152700 | Systemic lupus erythematosus | . | | | 56 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | TSR2 CL E G H | 90121 | 25455 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 1 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | TUBA8 CL E G H | 51807 | 12410 | OMIM:619840 | | | | | 21 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | TUBB1 CL E G H | 81027 | 16257 | OMIM:613112 | Macrothrombocytopenia, autosomal dominant, tubb1-related | | | | 3 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | TYMS CL E G H | 7298 | 12441 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 1 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | UBA1 CL E G H | 7317 | 12469 | OMIM:301054 | VEXAS SYNDROME; VEXAS | | | | 35 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | UBE2T CL E G H | 29089 | 25009 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 2 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | UBE2T CL E G H | 29089 | 25009 | OMIM:616435 | Fanconi anemia, complementation group T | . | | | 2 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | UNC13D CL E G H | 201294 | 23147 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040281 - Very frequent | | | 116 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | UQCRFS1 CL E G H | 7386 | 12587 | OMIM:618775 | MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10 | | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | UROS CL E G H | 7390 | 12592 | ORPHA:79277 | Congenital erythropoietic porphyria | HP:0040283 - Occasional | | | 41 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | UROS CL E G H | 7390 | 12592 | OMIM:263700 | Porphyria, congenital erythropoietic | . | | | 41 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | USB1 CL E G H | 79650 | 25792 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 8 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | USP18 CL E G H | 11274 | 12616 | OMIM:617397 | Pseudo-Torch syndrome 2 | . | | | 2 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | VPS33A CL E G H | 65082 | 18179 | ORPHA:505248 | Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders | HP:0040281 - Very frequent | | | 1 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | VPS33A CL E G H | 65082 | 18179 | OMIM:617303 | Mucopolysaccharidosis-Plus syndrome | | | | 1 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | VPS33B CL E G H | 26276 | 12712 | OMIM:208085 | Arthrogryposis, renal dysfunction, and cholestasis 1 | | | | 63 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | VPS45 CL E G H | 11311 | 14579 | OMIM:615285 | Neutropenia, severe congenital, 5, autosomal recessive | . | | | 7 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | VWF CL E G H | 7450 | 12726 | OMIM:613554 | Von willebrand disease, type 2 | . | | | 533 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | VWF CL E G H | 7450 | 12726 | OMIM:277480 | Von willebrand disease, type 3 | . | | | 533 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | WARS2 CL E G H | 10352 | 12730 | OMIM:617710 | Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures | | | | 2 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | WARS2 CL E G H | 10352 | 12730 | ORPHA:572798 | WARS2-related combined oxidative phosphorylation defect | HP:0040283 - Occasional | | | 2 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | WAS CL E G H | 7454 | 12731 | OMIM:313900 | Thrombocytopenia 1 | | | | 65 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | WAS CL E G H | 7454 | 12731 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040281 - Very frequent | | | 65 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | WDR1 CL E G H | 9948 | 12754 | OMIM:150550 | Periodic fever, immunodeficiency, and thrombocytopenia syndrome | | | | | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | WFS1 CL E G H | 7466 | 12762 | OMIM:222300 | Wolfram syndrome 1 | . | | | 389 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | WIPF1 CL E G H | 7456 | 12736 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040281 - Very frequent | | | 6 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | WIPF1 CL E G H | 7456 | 12736 | OMIM:614493 | WISKOTT-ALDRICH SYNDROME 2; WAS2 | | | | 6 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | WRAP53 CL E G H | 55135 | 25522 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 40 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | XIAP CL E G H | 331 | 592 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | . | | | 81 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | XPR1 CL E G H | 9213 | 12827 | ORPHA:1980 | Bilateral striopallidodentate calcinosis | HP:0040281 - Very frequent | | | 4 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | XRCC2 CL E G H | 7516 | 12829 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 125 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | ZAP70 CL E G H | 7535 | 12858 | ORPHA:911 | Combined immunodeficiency due to ZAP70 deficiency | | | | 46 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | ZBTB16 CL E G H | 7704 | 12930 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 1 | | |
HP:0001873 | HP:0001873 | Thrombocytopenia | 0 | ZNFX1 CL E G H | 57169 | 29271 | OMIM:619644 | IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91 | | | | | | |
HP:0001873 | HP:0011874 | Heparin-induced thrombocytopenia | 1 | CL E G H | | | | | | | | | | |
HP:0001873 | HP:0004813 | Post-transfusion thrombocytopenia | 1 | CL E G H | | | | | | | | | | |
HP:0001873 | HP:0001973 | Autoimmune thrombocytopenia | 1 | ACP5 CL E G H | 54 | 124 | ORPHA:1855 | Spondyloenchondrodysplasia | HP:0040283 - Occasional | | | 16 | | |
HP:0001873 | HP:0001973 | Autoimmune thrombocytopenia | 1 | ACP5 CL E G H | 54 | 124 | OMIM:607944 | Spondyloenchondrodysplasia with immune dysregulation | | | | 16 | | |
HP:0001873 | HP:0001973 | Autoimmune thrombocytopenia | 1 | ADA CL E G H | 100 | 186 | OMIM:102700 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | . | | | 75 | | |
HP:0001873 | HP:0004809 | Neonatal alloimmune thrombocytopenia | 1 | ADAR CL E G H | 103 | 225 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 116 | | |
HP:0001873 | HP:0001973 | Autoimmune thrombocytopenia | 1 | ARHGEF1 CL E G H | 9138 | 681 | OMIM:618459 | Immunodeficiency 62 | . | | | | | |
HP:0001873 | HP:0004859 | Amegakaryocytic thrombocytopenia | 1 | BRAF CL E G H | 673 | 1097 | OMIM:163950 | Noonan syndrome 1 | . | | | 276 | | |
HP:0001873 | HP:0001973 | Autoimmune thrombocytopenia | 1 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040282 - Frequent | | | 87 | | |
HP:0001873 | HP:0001973 | Autoimmune thrombocytopenia | 1 | CASP10 CL E G H | 843 | 1500 | OMIM:603909 | Autoimmune lymphoproliferative syndrome, type IIA | . | | | 87 | | |
HP:0001873 | HP:0004809 | Neonatal alloimmune thrombocytopenia | 1 | CD109 CL E G H | 135228 | 21685 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | HP:0040280 - Obligate | | | | | |
HP:0001873 | HP:0001973 | Autoimmune thrombocytopenia | 1 | CD19 CL E G H | 930 | 1633 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 38 | | |
HP:0001873 | HP:0001973 | Autoimmune thrombocytopenia | 1 | CD81 CL E G H | 975 | 1701 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 1 | | |
HP:0001873 | HP:0001973 | Autoimmune thrombocytopenia | 1 | CD81 CL E G H | 975 | 1701 | OMIM:613496 | Immunodeficiency, common variable, 6 | | | | 1 | | |
HP:0001873 | HP:0001973 | Autoimmune thrombocytopenia | 1 | CIITA CL E G H | 4261 | 7067 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040283 - Occasional | | | 118 | | |
HP:0001873 | HP:0001973 | Autoimmune thrombocytopenia | 1 | CR2 CL E G H | 1380 | 2336 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 10 | | |
HP:0001873 | HP:0001973 | Autoimmune thrombocytopenia | 1 | CTLA4 CL E G H | 1493 | 2505 | OMIM:616100 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5 | | | | 10 | | |
HP:0001873 | HP:0001973 | Autoimmune thrombocytopenia | 1 | CTNNBL1 CL E G H | 56259 | 15879 | OMIM:619846 | | | | | | | |
HP:0001873 | HP:0040185 | Macrothrombocytopenia | 1 | DIAPH1 CL E G H | 1729 | 2876 | OMIM:124900 | Deafness, autosomal dominant 1 | | | | 118 | | |
HP:0001873 | HP:0001973 | Autoimmune thrombocytopenia | 1 | FAS CL E G H | 355 | 11920 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | . | | | 59 | | |
HP:0001873 | HP:0001973 | Autoimmune thrombocytopenia | 1 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040282 - Frequent | | | 59 | | |
HP:0001873 | HP:0001973 | Autoimmune thrombocytopenia | 1 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040282 - Frequent | | | 37 | | |
HP:0001873 | HP:0001973 | Autoimmune thrombocytopenia | 1 | FASLG CL E G H | 356 | 11936 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | . | | | 37 | | |
HP:0001873 | HP:0001973 | Autoimmune thrombocytopenia | 1 | FOXP3 CL E G H | 50943 | 6106 | ORPHA:37042 | Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0001873 | HP:0001973 | Autoimmune thrombocytopenia | 1 | FOXP3 CL E G H | 50943 | 6106 | OMIM:304790 | Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked | | | | 32 | | |
HP:0001873 | HP:0004854 | Intermittent thrombocytopenia | 1 | G6PC3 CL E G H | 92579 | 24861 | OMIM:612541 | Neutropenia, severe congenital, 4, autosomal recessive | | | | 37 | | |
HP:0001873 | HP:0001973 | Autoimmune thrombocytopenia | 1 | GALC CL E G H | 2581 | 4115 | OMIM:245200 | Krabbe disease | . | | | 160 | | |
HP:0001873 | HP:0040185 | Macrothrombocytopenia | 1 | GATA1 CL E G H | 2623 | 4170 | ORPHA:67044 | Thrombocytopenia with congenital dyserythropoietic anemia | HP:0040281 - Very frequent | | | 29 | | |
HP:0001873 | HP:0001905 | Congenital thrombocytopenia | 1 | GATA1 CL E G H | 2623 | 4170 | OMIM:300367 | Thrombocytopenia, X-linked, with or without dyserythropoietic anemia | . | | | 29 | | |
HP:0001873 | HP:0040185 | Macrothrombocytopenia | 1 | GFI1B CL E G H | 8328 | 4238 | OMIM:187900 | Bleeding disorder, platelet-type, 17 | | | | 3 | | |
HP:0001873 | HP:0040185 | Macrothrombocytopenia | 1 | GP1BA CL E G H | 2811 | 4439 | ORPHA:274 | Bernard-Soulier syndrome | HP:0040281 - Very frequent | | | 23 | | |
HP:0001873 | HP:0040185 | Macrothrombocytopenia | 1 | GP1BA CL E G H | 2811 | 4439 | OMIM:231200 | BERNARD-SOULIER SYNDROME; BSS | | | | 23 | | |
HP:0001873 | HP:0004809 | Neonatal alloimmune thrombocytopenia | 1 | GP1BA CL E G H | 2811 | 4439 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | HP:0040280 - Obligate | | | 23 | | |
HP:0001873 | HP:0004854 | Intermittent thrombocytopenia | 1 | GP1BA CL E G H | 2811 | 4439 | OMIM:177820 | Pseudo-Von willebrand disease | . | | | 23 | | |
HP:0001873 | HP:0040185 | Macrothrombocytopenia | 1 | GP1BB CL E G H | 2812 | 4440 | ORPHA:274 | Bernard-Soulier syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0001873 | HP:0040185 | Macrothrombocytopenia | 1 | GP1BB CL E G H | 2812 | 4440 | OMIM:231200 | BERNARD-SOULIER SYNDROME; BSS | | | | 8 | | |
HP:0001873 | HP:0004809 | Neonatal alloimmune thrombocytopenia | 1 | GP1BB CL E G H | 2812 | 4440 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | HP:0040280 - Obligate | | | 8 | | |
HP:0001873 | HP:0040185 | Macrothrombocytopenia | 1 | GP9 CL E G H | 2815 | 4444 | ORPHA:274 | Bernard-Soulier syndrome | HP:0040281 - Very frequent | | | 21 | | |
HP:0001873 | HP:0040185 | Macrothrombocytopenia | 1 | GP9 CL E G H | 2815 | 4444 | OMIM:231200 | BERNARD-SOULIER SYNDROME; BSS | | | | 21 | | |
HP:0001873 | HP:0004859 | Amegakaryocytic thrombocytopenia | 1 | HOXA11 CL E G H | 3207 | 5101 | ORPHA:71289 | Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0001873 | HP:0001905 | Congenital thrombocytopenia | 1 | HOXA11 CL E G H | 3207 | 5101 | OMIM:605432 | Radioulnar synostosis with amegakaryocytic thrombocytopenia | . | | | 3 | | |
HP:0001873 | HP:0004859 | Amegakaryocytic thrombocytopenia | 1 | HOXA11 CL E G H | 3207 | 5101 | OMIM:605432 | Radioulnar synostosis with amegakaryocytic thrombocytopenia | . | | | 3 | | |
HP:0001873 | HP:0001973 | Autoimmune thrombocytopenia | 1 | ICOS CL E G H | 29851 | 5351 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 32 | | |
HP:0001873 | HP:0004809 | Neonatal alloimmune thrombocytopenia | 1 | IFIH1 CL E G H | 64135 | 18873 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 28 | | |
HP:0001873 | HP:0001973 | Autoimmune thrombocytopenia | 1 | IL7R CL E G H | 3575 | 6024 | ORPHA:169154 | T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency | HP:0040283 - Occasional | | | 94 | | |
HP:0001873 | HP:0001973 | Autoimmune thrombocytopenia | 1 | IRF2BP2 CL E G H | 359948 | 21729 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 4 | | |
HP:0001873 | HP:0004809 | Neonatal alloimmune thrombocytopenia | 1 | ITGA2 CL E G H | 3673 | 6137 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | HP:0040280 - Obligate | | | 119 | | |
HP:0001873 | HP:0040185 | Macrothrombocytopenia | 1 | ITGA2B CL E G H | 3674 | 6138 | OMIM:187800 | Bleeding disorder, platelet-type, 16 | | | | 69 | | |
HP:0001873 | HP:0004809 | Neonatal alloimmune thrombocytopenia | 1 | ITGA2B CL E G H | 3674 | 6138 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | HP:0040280 - Obligate | | | 69 | | |
HP:0001873 | HP:0004809 | Neonatal alloimmune thrombocytopenia | 1 | ITGB3 CL E G H | 3690 | 6156 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | HP:0040280 - Obligate | | | 80 | | |
HP:0001873 | HP:0001973 | Autoimmune thrombocytopenia | 1 | ITK CL E G H | 3702 | 6171 | OMIM:613011 | LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1 | | | | 51 | | |
HP:0001873 | HP:0001973 | Autoimmune thrombocytopenia | 1 | KDM6A CL E G H | 7403 | 12637 | OMIM:147920 | Kabuki syndrome 1 | . | | | 53 | | |
HP:0001873 | HP:0001973 | Autoimmune thrombocytopenia | 1 | KMT2D CL E G H | 8085 | 7133 | OMIM:147920 | Kabuki syndrome 1 | . | | | 660 | | |
HP:0001873 | HP:0001973 | Autoimmune thrombocytopenia | 1 | KRAS CL E G H | 3845 | 6407 | OMIM:614470 | RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic | . | | | 196 | | |
HP:0001873 | HP:0001973 | Autoimmune thrombocytopenia | 1 | LAT CL E G H | 27040 | 18874 | OMIM:617514 | Immunodeficiency 52 | | | | 2 | | |
HP:0001873 | HP:0001973 | Autoimmune thrombocytopenia | 1 | LRBA CL E G H | 987 | 1742 | OMIM:614700 | IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8 | | | | 45 | | |
HP:0001873 | HP:0004809 | Neonatal alloimmune thrombocytopenia | 1 | LSM11 CL E G H | 134353 | 30860 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | | | |
HP:0001873 | HP:0001973 | Autoimmune thrombocytopenia | 1 | MAGT1 CL E G H | 84061 | 28880 | OMIM:300853 | IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN | | | | 17 | | |
HP:0001873 | HP:0004859 | Amegakaryocytic thrombocytopenia | 1 | MAP2K1 CL E G H | 5604 | 6840 | OMIM:163950 | Noonan syndrome 1 | . | | | 134 | | |
HP:0001873 | HP:0004859 | Amegakaryocytic thrombocytopenia | 1 | MECOM CL E G H | 2122 | 3498 | ORPHA:71289 | Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0001873 | HP:0001905 | Congenital thrombocytopenia | 1 | MECOM CL E G H | 2122 | 3498 | OMIM:616738 | RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2 | | | | 4 | | |
HP:0001873 | HP:0004859 | Amegakaryocytic thrombocytopenia | 1 | MPL CL E G H | 4352 | 7217 | OMIM:604498 | Amegakaryocytic thrombocytopenia, congenital | . | | | 97 | | |
HP:0001873 | HP:0001973 | Autoimmune thrombocytopenia | 1 | MS4A1 CL E G H | 931 | 7315 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 1 | | |
HP:0001873 | HP:0040185 | Macrothrombocytopenia | 1 | MYH9 CL E G H | 4627 | 7579 | OMIM:155100 | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | | | | 297 | | |
HP:0001873 | HP:0001905 | Congenital thrombocytopenia | 1 | MYH9 CL E G H | 4627 | 7579 | ORPHA:182050 | MYH9-related disease | HP:0040281 - Very frequent | | | 297 | | |
HP:0001873 | HP:0001973 | Autoimmune thrombocytopenia | 1 | NFKB1 CL E G H | 4790 | 7794 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 7 | | |
HP:0001873 | HP:0001973 | Autoimmune thrombocytopenia | 1 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 11 | | |
HP:0001873 | HP:0001973 | Autoimmune thrombocytopenia | 1 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:293978 | Deficiency in anterior pituitary function-variable immunodeficiency syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0001873 | HP:0001973 | Autoimmune thrombocytopenia | 1 | NRAS CL E G H | 4893 | 7989 | OMIM:614470 | RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic | . | | | 102 | | |
HP:0001873 | HP:0001973 | Autoimmune thrombocytopenia | 1 | PNP CL E G H | 4860 | 7892 | OMIM:613179 | Immunodeficiency due to purine nucleoside phosphorylase deficiency | . | | | 52 | | |
HP:0001873 | HP:0001973 | Autoimmune thrombocytopenia | 1 | PNP CL E G H | 4860 | 7892 | ORPHA:760 | Purine nucleoside phosphorylase deficiency | HP:0040284 - Very rare | | | 52 | | |
HP:0001873 | HP:0040185 | Macrothrombocytopenia | 1 | PRKACG CL E G H | 5568 | 9382 | OMIM:616176 | Bleeding disorder, platelet-type, 19 | . | | | 2 | | |
HP:0001873 | HP:0001973 | Autoimmune thrombocytopenia | 1 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040282 - Frequent | | | 10 | | |
HP:0001873 | HP:0001973 | Autoimmune thrombocytopenia | 1 | PRKCD CL E G H | 5580 | 9399 | OMIM:615559 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 | | | | 10 | | |
HP:0001873 | HP:0001973 | Autoimmune thrombocytopenia | 1 | PRKCD CL E G H | 5580 | 9399 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 10 | | |
HP:0001873 | HP:0004859 | Amegakaryocytic thrombocytopenia | 1 | PTPN11 CL E G H | 5781 | 9644 | OMIM:163950 | Noonan syndrome 1 | . | | | 291 | | |
HP:0001873 | HP:0001973 | Autoimmune thrombocytopenia | 1 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040282 - Frequent | | | | | |
HP:0001873 | HP:0001973 | Autoimmune thrombocytopenia | 1 | RASGRP1 CL E G H | 10125 | 9878 | OMIM:618534 | IMMUNODEFICIENCY 64; IMD64 | | | | | | |
HP:0001873 | HP:0001973 | Autoimmune thrombocytopenia | 1 | RFX5 CL E G H | 5993 | 9986 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040283 - Occasional | | | 38 | | |
HP:0001873 | HP:0001973 | Autoimmune thrombocytopenia | 1 | RFXANK CL E G H | 8625 | 9987 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040283 - Occasional | | | 26 | | |
HP:0001873 | HP:0001973 | Autoimmune thrombocytopenia | 1 | RFXAP CL E G H | 5994 | 9988 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040283 - Occasional | | | 34 | | |
HP:0001873 | HP:0004809 | Neonatal alloimmune thrombocytopenia | 1 | RNASEH2A CL E G H | 10535 | 18518 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0001873 | HP:0004809 | Neonatal alloimmune thrombocytopenia | 1 | RNASEH2B CL E G H | 79621 | 25671 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0001873 | HP:0004809 | Neonatal alloimmune thrombocytopenia | 1 | RNASEH2C CL E G H | 84153 | 24116 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 60 | | |
HP:0001873 | HP:0004809 | Neonatal alloimmune thrombocytopenia | 1 | RNU7-1 CL E G H | 100147744 | 34033 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | | | |
HP:0001873 | HP:0004809 | Neonatal alloimmune thrombocytopenia | 1 | SAMHD1 CL E G H | 25939 | 15925 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 55 | | |
HP:0001873 | HP:0001973 | Autoimmune thrombocytopenia | 1 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0001873 | HP:0040185 | Macrothrombocytopenia | 1 | SLC35A1 CL E G H | 10559 | 11021 | OMIM:603585 | Congenital disorder of glycosylation, type IIf | . | | | 24 | | |
HP:0001873 | HP:0001973 | Autoimmune thrombocytopenia | 1 | SMPD1 CL E G H | 6609 | 11120 | ORPHA:77293 | Niemann-Pick disease type B | HP:0040284 - Very rare | | | 164 | | |
HP:0001873 | HP:0001973 | Autoimmune thrombocytopenia | 1 | SOCS1 CL E G H | 8651 | 19383 | OMIM:619375 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD | | | | 6 | | |
HP:0001873 | HP:0001973 | Autoimmune thrombocytopenia | 1 | STAT1 CL E G H | 6772 | 11362 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | HP:0040283 - Occasional | | | 89 | | |
HP:0001873 | HP:0001905 | Congenital thrombocytopenia | 1 | STAT2 CL E G H | 6773 | 11363 | OMIM:618886 | PSEUDO-TORCH SYNDROME 3; PTORCH3 | | | | 9 | | |
HP:0001873 | HP:0001973 | Autoimmune thrombocytopenia | 1 | STAT3 CL E G H | 6774 | 11364 | OMIM:615952 | AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1 | | | | 110 | | |
HP:0001873 | HP:0004854 | Intermittent thrombocytopenia | 1 | TFRC CL E G H | 7037 | 11763 | OMIM:616740 | Immunodeficiency 46 | | | | 1 | | |
HP:0001873 | HP:0001973 | Autoimmune thrombocytopenia | 1 | TLR7 CL E G H | 51284 | 15631 | OMIM:301080 | | | | | | | |
HP:0001873 | HP:0001973 | Autoimmune thrombocytopenia | 1 | TNFRSF13B CL E G H | 23495 | 18153 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 32 | | |
HP:0001873 | HP:0001973 | Autoimmune thrombocytopenia | 1 | TNFRSF13C CL E G H | 115650 | 17755 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 12 | | |
HP:0001873 | HP:0001973 | Autoimmune thrombocytopenia | 1 | TNFSF12 CL E G H | 8742 | 11927 | ORPHA:1572 | Common variable immunodeficiency | HP:0040281 - Very frequent | | | 1 | | |
HP:0001873 | HP:0001973 | Autoimmune thrombocytopenia | 1 | TOM1 CL E G H | 10043 | 11982 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | HP:0040283 - Occasional | | | | | |
HP:0001873 | HP:0001973 | Autoimmune thrombocytopenia | 1 | TPP2 CL E G H | 7174 | 12016 | ORPHA:444463 | Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome | HP:0040280 - Obligate | | | | | |
HP:0001873 | HP:0001973 | Autoimmune thrombocytopenia | 1 | TPP2 CL E G H | 7174 | 12016 | OMIM:619220 | IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78 | | | | | | |
HP:0001873 | HP:0004809 | Neonatal alloimmune thrombocytopenia | 1 | TREX1 CL E G H | 11277 | 12269 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 56 | | |
HP:0001873 | HP:0040185 | Macrothrombocytopenia | 1 | TUBA8 CL E G H | 51807 | 12410 | OMIM:619840 | | | | | 21 | | |
HP:0001873 | HP:0040185 | Macrothrombocytopenia | 1 | TUBB1 CL E G H | 81027 | 16257 | OMIM:613112 | Macrothrombocytopenia, autosomal dominant, tubb1-related | | | | 3 | | |
HP:0001873 | HP:0004854 | Intermittent thrombocytopenia | 1 | WAS CL E G H | 7454 | 12731 | OMIM:313900 | Thrombocytopenia 1 | . | | | 65 | | |
HP:0001873 | HP:0001905 | Congenital thrombocytopenia | 1 | WAS CL E G H | 7454 | 12731 | OMIM:313900 | Thrombocytopenia 1 | . | | | 65 | | |
HP:0001873 | HP:0004854 | Intermittent thrombocytopenia | 1 | WDR1 CL E G H | 9948 | 12754 | OMIM:150550 | Periodic fever, immunodeficiency, and thrombocytopenia syndrome | | | | | | |
HP:0001873 | HP:0001973 | Autoimmune thrombocytopenia | 1 | ZAP70 CL E G H | 7535 | 12858 | ORPHA:911 | Combined immunodeficiency due to ZAP70 deficiency | HP:0040284 - Very rare | | | 46 | | |