Human Phenotype Ontology 
Grandparent Node:
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Abnormality of thrombocytes (HP:0001872)help
Parent Node:
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Abnormal platelet count (HP:0011873)help
..Starting node
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Thrombocytopenia (HP:0001873)help
Term ID: 1873
Name: Thrombocytopenia
Synonym: Low platelet count
Definition: A reduction in the number of circulating thrombocytes.
Comments:
Reference: HP:0001873
Genes and Diseases:
 
       Child Nodes:
........expandCongenital thrombocytopenia (HP:0001905) help
........expandAutoimmune thrombocytopenia (HP:0001973) help
........expandNeonatal alloimmune thrombocytopenia (HP:0004809) help
........expandPost-transfusion thrombocytopenia (HP:0004813) help
........expandIntermittent thrombocytopenia (HP:0004854) help
........expandAmegakaryocytic thrombocytopenia (HP:0004859) help
........expandHeparin-induced thrombocytopenia (HP:0011874) help
........expandMacrothrombocytopenia (HP:0040185) help

 Sister Nodes: 
..expandThrombocytosis (HP:0001894) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001873HP:0001873Thrombocytopenia0ABCA1 CL E G H1929ORPHA:31150Tangier diseaseHP:0040283 - Occasional191
HP:0001873HP:0001873Thrombocytopenia0ABCD4 CL E G H582668OMIM:614857Methylmalonic aciduria and homocystinuria, Cblj type.53
HP:0001873HP:0001873Thrombocytopenia0ABCG8 CL E G H6424113887OMIM:210250Sitosterolemia 176
HP:0001873HP:0001873Thrombocytopenia0ABL1 CL E G H2576ORPHA:521Chronic myeloid leukemiaHP:0040282 - Frequent51
HP:0001873HP:0001873Thrombocytopenia0ACAD9 CL E G H2897621497ORPHA:99901Acyl-CoA dehydrogenase 9 deficiencyHP:0040282 - Frequent98
HP:0001873HP:0001873Thrombocytopenia0ACAD9 CL E G H2897621497OMIM:611126Mitochondrial complex I deficiency due to acad9 deficiency.98
HP:0001873HP:0001873Thrombocytopenia0ACD CL E G H6505725070ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040281 - Very frequent11
HP:0001873HP:0001873Thrombocytopenia0ACP5 CL E G H54124ORPHA:1855Spondyloenchondrodysplasia16
HP:0001873HP:0001873Thrombocytopenia0ACP5 CL E G H54124OMIM:607944Spondyloenchondrodysplasia with immune dysregulation16
HP:0001873HP:0001873Thrombocytopenia0ACTN1 CL E G H87163OMIM:615193BLEEDING DISORDER, PLATELET-TYPE, 15; BDPLT159
HP:0001873HP:0001873Thrombocytopenia0ADA CL E G H100186OMIM:102700Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency75
HP:0001873HP:0001873Thrombocytopenia0ADA2 CL E G H518161839ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare22
HP:0001873HP:0001873Thrombocytopenia0ADAMTS13 CL E G H110931366OMIM:274150Thrombotic thrombocytopenic purpura, hereditary.129
HP:0001873HP:0001873Thrombocytopenia0ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndrome116
HP:0001873HP:0001873Thrombocytopenia0ADAR CL E G H103225OMIM:615010Aicardi-Goutieres syndrome 6116
HP:0001873HP:0001873Thrombocytopenia0ADH5 CL E G H128253OMIM:619151AMED SYNDROME, DIGENIC; AMEDS
HP:0001873HP:0001873Thrombocytopenia0AGK CL E G H5575021869OMIM:212350Sengers syndromeHP:0040283 - Occasional82
HP:0001873HP:0001873Thrombocytopenia0ALG12 CL E G H7908719358ORPHA:79324ALG12-CDGHP:0040283 - Occasional68
HP:0001873HP:0001873Thrombocytopenia0ALG8 CL E G H7905323161ORPHA:79325ALG8-CDGHP:0040282 - Frequent46
HP:0001873HP:0001873Thrombocytopenia0ALG8 CL E G H7905323161OMIM:608104Congenital disorder of glycosylation, type Ih.46
HP:0001873HP:0001873Thrombocytopenia0AMN CL E G H8169314604ORPHA:35858Imerslund-Gräsbeck syndromeHP:0040283 - Occasional25
HP:0001873HP:0001873Thrombocytopenia0ANKRD11 CL E G H2912321316ORPHA:26125016q24.3 microdeletion syndromeHP:0040283 - Occasional102
HP:0001873HP:0001873Thrombocytopenia0ANKRD26 CL E G H2285229186OMIM:188000THROMBOCYTOPENIA 2; THC2106
HP:0001873HP:0001873Thrombocytopenia0AP3B1 CL E G H8546566OMIM:608233Hermansky-Pudlak syndrome 283
HP:0001873HP:0001873Thrombocytopenia0APOE CL E G H348613OMIM:269600Sea-Blue histiocyte disease.39
HP:0001873HP:0001873Thrombocytopenia0APOE CL E G H348613ORPHA:158029Sea-blue histiocytosisHP:0040281 - Very frequent39
HP:0001873HP:0001873Thrombocytopenia0ARHGAP31 CL E G H5751429216ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional147
HP:0001873HP:0001873Thrombocytopenia0ARHGEF1 CL E G H9138681OMIM:618459Immunodeficiency 62
HP:0001873HP:0001873Thrombocytopenia0ARPC1B CL E G H10095704OMIM:617718Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease.
HP:0001873HP:0001873Thrombocytopenia0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional1
HP:0001873HP:0001873Thrombocytopenia0ASAH1 CL E G H427735ORPHA:333Farber diseaseHP:0040284 - Very rare78
HP:0001873HP:0001873Thrombocytopenia0ASXL1 CL E G H17102318318ORPHA:98850Aggressive systemic mastocytosisHP:0040283 - Occasional145
HP:0001873HP:0001873Thrombocytopenia0ASXL1 CL E G H17102318318ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040282 - Frequent145
HP:0001873HP:0001873Thrombocytopenia0ATP6AP1 CL E G H537868OMIM:300972IMMUNODEFICIENCY 47; IMD475
HP:0001873HP:0001873Thrombocytopenia0ATP7B CL E G H540870OMIM:277900Wilson disease315
HP:0001873HP:0001873Thrombocytopenia0ATP7B CL E G H540870ORPHA:905Wilson diseaseHP:0040281 - Very frequent315
HP:0001873HP:0001873Thrombocytopenia0ATRX CL E G H546886ORPHA:231401Alpha-thalassemia-myelodysplastic syndromeHP:0040281 - Very frequent169
HP:0001873HP:0001873Thrombocytopenia0BCOR CL E G H5488020893ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent101
HP:0001873HP:0001873Thrombocytopenia0BCR CL E G H6131014ORPHA:521Chronic myeloid leukemiaHP:0040282 - Frequent5
HP:0001873HP:0001873Thrombocytopenia0BLOC1S6 CL E G H262588549OMIM:614171Hermansky-Pudlak syndrome 9.35
HP:0001873HP:0001873Thrombocytopenia0BRAF CL E G H6731097OMIM:163950Noonan syndrome 1276
HP:0001873HP:0001873Thrombocytopenia0BRCA1 CL E G H6721100ORPHA:84Fanconi anemiaHP:0040281 - Very frequent5769
HP:0001873HP:0001873Thrombocytopenia0BRCA2 CL E G H6751101ORPHA:84Fanconi anemiaHP:0040281 - Very frequent7642
HP:0001873HP:0001873Thrombocytopenia0BRIP1 CL E G H8399020473ORPHA:84Fanconi anemiaHP:0040281 - Very frequent1086
HP:0001873HP:0001873Thrombocytopenia0BTK CL E G H6951133ORPHA:47X-linked agammaglobulinemiaHP:0040283 - Occasional109
HP:0001873HP:0001873Thrombocytopenia0BTNL2 CL E G H562441142ORPHA:797SarcoidosisHP:0040282 - Frequent1
HP:0001873HP:0001873Thrombocytopenia0C3 CL E G H7181318OMIM:612925Hemolytic uremic syndrome, atypical, susceptibility to, 5.92
HP:0001873HP:0001873Thrombocytopenia0CA2 CL E G H7601373ORPHA:2785Osteopetrosis with renal tubular acidosisHP:0040282 - Frequent29
HP:0001873HP:0001873Thrombocytopenia0CALR CL E G H8111455ORPHA:824Primary myelofibrosisHP:0040282 - Frequent1
HP:0001873HP:0001873Thrombocytopenia0CASP10 CL E G H8431500ORPHA:3261Autoimmune lymphoproliferative syndrome87
HP:0001873HP:0001873Thrombocytopenia0CASP10 CL E G H8431500OMIM:603909Autoimmune lymphoproliferative syndrome, type IIA87
HP:0001873HP:0001873Thrombocytopenia0CBL CL E G H8671541ORPHA:98850Aggressive systemic mastocytosisHP:0040283 - Occasional317
HP:0001873HP:0001873Thrombocytopenia0CD109 CL E G H13522821685ORPHA:853Fetal and neonatal alloimmune thrombocytopenia
HP:0001873HP:0001873Thrombocytopenia0CD19 CL E G H9301633ORPHA:1572Common variable immunodeficiency38
HP:0001873HP:0001873Thrombocytopenia0CD36 CL E G H9481663OMIM:608404Platelet glycoprotein IV deficiency.53
HP:0001873HP:0001873Thrombocytopenia0CD40LG CL E G H95911935OMIM:308230Immunodeficiency, X-linked, with hyper-IgM.33
HP:0001873HP:0001873Thrombocytopenia0CD46 CL E G H41796953ORPHA:244242HELLP syndromeHP:0040280 - Obligate39
HP:0001873HP:0001873Thrombocytopenia0CD46 CL E G H41796953OMIM:612922Hemolytic uremic syndrome, atypical, susceptibility to, 2.39
HP:0001873HP:0001873Thrombocytopenia0CD81 CL E G H9751701ORPHA:1572Common variable immunodeficiency1
HP:0001873HP:0001873Thrombocytopenia0CD81 CL E G H9751701OMIM:613496Immunodeficiency, common variable, 61
HP:0001873HP:0001873Thrombocytopenia0CDC40 CL E G H5136217350OMIM:619302PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0001873HP:0001873Thrombocytopenia0CDC42 CL E G H9981736ORPHA:487796Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndromeHP:0040282 - Frequent6
HP:0001873HP:0001873Thrombocytopenia0CDC42 CL E G H9981736OMIM:616737Takenouchi-Kosaki syndromeHP:0040284 - Very rare6
HP:0001873HP:0001873Thrombocytopenia0CFB CL E G H6291037OMIM:612924Hemolytic uremic syndrome, atypical, susceptibility to, 4.30
HP:0001873HP:0001873Thrombocytopenia0CFH CL E G H30754883ORPHA:244242HELLP syndromeHP:0040280 - Obligate86
HP:0001873HP:0001873Thrombocytopenia0CFH CL E G H30754883OMIM:235400Hemolytic uremic syndrome, atypical, susceptibility to, 1.86
HP:0001873HP:0001873Thrombocytopenia0CFHR1 CL E G H30784888OMIM:235400Hemolytic uremic syndrome, atypical, susceptibility to, 1.
HP:0001873HP:0001873Thrombocytopenia0CFHR3 CL E G H1087816980OMIM:235400Hemolytic uremic syndrome, atypical, susceptibility to, 1.
HP:0001873HP:0001873Thrombocytopenia0CFI CL E G H34265394ORPHA:244242HELLP syndromeHP:0040280 - Obligate57
HP:0001873HP:0001873Thrombocytopenia0CFI CL E G H34265394OMIM:612923Hemolytic uremic syndrome, atypical, susceptibility to, 3.57
HP:0001873HP:0001873Thrombocytopenia0CIITA CL E G H42617067ORPHA:572Immunodeficiency by defective expression of MHC class II118
HP:0001873HP:0001873Thrombocytopenia0CLCN7 CL E G H11862025OMIM:611490Osteopetrosis, autosomal recessive 4.102
HP:0001873HP:0001873Thrombocytopenia0CLPB CL E G H8157030664OMIM:6162713-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia38
HP:0001873HP:0001873Thrombocytopenia0COG1 CL E G H93826545OMIM:611209Congenital disorder of glycosylation, type IIg.52
HP:0001873HP:0001873Thrombocytopenia0COG4 CL E G H2583918620ORPHA:263501COG4-CDGHP:0040282 - Frequent67
HP:0001873HP:0001873Thrombocytopenia0COG6 CL E G H5751118621OMIM:614576CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L71
HP:0001873HP:0001873Thrombocytopenia0COL4A5 CL E G H12872207OMIM:301050Alport syndrome, X-linked.678
HP:0001873HP:0001873Thrombocytopenia0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional6
HP:0001873HP:0001873Thrombocytopenia0CORIN CL E G H1069919012ORPHA:275555PreeclampsiaHP:0040284 - Very rare5
HP:0001873HP:0001873Thrombocytopenia0CR2 CL E G H13802336ORPHA:1572Common variable immunodeficiency10
HP:0001873HP:0001873Thrombocytopenia0CTC1 CL E G H8016926169OMIM:612199Cerebroretinal microangiopathy with calcifications and cystsHP:0040283 - Occasional160
HP:0001873HP:0001873Thrombocytopenia0CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent160
HP:0001873HP:0001873Thrombocytopenia0CTLA4 CL E G H14932505OMIM:616100AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS510
HP:0001873HP:0001873Thrombocytopenia0CTLA4 CL E G H14932505OMIM:152700Systemic lupus erythematosus.10
HP:0001873HP:0001873Thrombocytopenia0CTNNBL1 CL E G H5625915879OMIM:619846
HP:0001873HP:0001873Thrombocytopenia0CUBN CL E G H80292548ORPHA:35858Imerslund-Gräsbeck syndromeHP:0040283 - Occasional273
HP:0001873HP:0001873Thrombocytopenia0CYCS CL E G H5420519986OMIM:612004Thrombocytopenia 4.82
HP:0001873HP:0001873Thrombocytopenia0DCLRE1C CL E G H6442117642OMIM:603554Omenn syndrome.94
HP:0001873HP:0001873Thrombocytopenia0DEF6 CL E G H506192760OMIM:619573IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001873HP:0001873Thrombocytopenia0DGKE CL E G H85262852OMIM:615008Nephrotic syndrome, type 7HP:0040283 - Occasional17
HP:0001873HP:0001873Thrombocytopenia0DGUOK CL E G H17162858OMIM:251880Mitochondrial DNA depletion syndrome 3 (hepatocerebral type).57
HP:0001873HP:0001873Thrombocytopenia0DHFR CL E G H17192861OMIM:613839Megaloblastic anemia due to dihydrofolate reductase deficiency.7
HP:0001873HP:0001873Thrombocytopenia0DIAPH1 CL E G H17292876OMIM:124900Deafness, autosomal dominant 1HP:0040283 - Occasional118
HP:0001873HP:0001873Thrombocytopenia0DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent65
HP:0001873HP:0001873Thrombocytopenia0DKC1 CL E G H17362890OMIM:305000Dyskeratosis congenita, X-linked.65
HP:0001873HP:0001873Thrombocytopenia0DKC1 CL E G H17362890ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040281 - Very frequent65
HP:0001873HP:0001873Thrombocytopenia0DLL4 CL E G H545672910ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional9
HP:0001873HP:0001873Thrombocytopenia0DNAJC21 CL E G H13421827030ORPHA:811Shwachman-Diamond syndromeHP:0040282 - Frequent5
HP:0001873HP:0001873Thrombocytopenia0DNAJC21 CL E G H13421827030OMIM:260400Shwachman-Diamond syndrome 1.5
HP:0001873HP:0001873Thrombocytopenia0DNASE1 CL E G H17732956OMIM:152700Systemic lupus erythematosus.3
HP:0001873HP:0001873Thrombocytopenia0DOCK2 CL E G H17942988OMIM:616433Immunodeficiency 406
HP:0001873HP:0001873Thrombocytopenia0DOCK6 CL E G H5757219189ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional18
HP:0001873HP:0001873Thrombocytopenia0DZIP1L CL E G H19922126551ORPHA:731Autosomal recessive polycystic kidney diseaseHP:0040283 - Occasional4
HP:0001873HP:0001873Thrombocytopenia0EFL1 CL E G H7963125789ORPHA:811Shwachman-Diamond syndromeHP:0040282 - Frequent1
HP:0001873HP:0001873Thrombocytopenia0EFL1 CL E G H7963125789OMIM:617941Shwachman-Diamond syndrome 2.1
HP:0001873HP:0001873Thrombocytopenia0ELANE CL E G H19913309ORPHA:2686Cyclic neutropeniaHP:0040283 - Occasional79
HP:0001873HP:0001873Thrombocytopenia0EOGT CL E G H28520328526ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional4
HP:0001873HP:0001873Thrombocytopenia0ERBB3 CL E G H20653431OMIM:133180Erythroleukemia, familial, susceptibility to.12
HP:0001873HP:0001873Thrombocytopenia0ERCC4 CL E G H20723436ORPHA:84Fanconi anemiaHP:0040281 - Very frequent158
HP:0001873HP:0001873Thrombocytopenia0ERCC6L2 CL E G H37574826922OMIM:615715Bone marrow failure syndrome 2.4
HP:0001873HP:0001873Thrombocytopenia0ESCO2 CL E G H15757027230ORPHA:3103Roberts syndromeHP:0040283 - Occasional92
HP:0001873HP:0001873Thrombocytopenia0ETV6 CL E G H21203495OMIM:616216Thrombocytopenia 5.13
HP:0001873HP:0001873Thrombocytopenia0FANCA CL E G H21753582OMIM:227650Fanconi anemia.340
HP:0001873HP:0001873Thrombocytopenia0FANCA CL E G H21753582ORPHA:84Fanconi anemiaHP:0040281 - Very frequent340
HP:0001873HP:0001873Thrombocytopenia0FANCB CL E G H21873583ORPHA:84Fanconi anemiaHP:0040281 - Very frequent58
HP:0001873HP:0001873Thrombocytopenia0FANCB CL E G H21873583OMIM:300514FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB58
HP:0001873HP:0001873Thrombocytopenia0FANCC CL E G H21763584ORPHA:84Fanconi anemiaHP:0040281 - Very frequent410
HP:0001873HP:0001873Thrombocytopenia0FANCC CL E G H21763584OMIM:227645Fanconi anemia, complementation group C410
HP:0001873HP:0001873Thrombocytopenia0FANCD2 CL E G H21773585ORPHA:84Fanconi anemiaHP:0040281 - Very frequent147
HP:0001873HP:0001873Thrombocytopenia0FANCD2 CL E G H21773585OMIM:227646Fanconi anemia, complementation group D2147
HP:0001873HP:0001873Thrombocytopenia0FANCE CL E G H21783586ORPHA:84Fanconi anemiaHP:0040281 - Very frequent73
HP:0001873HP:0001873Thrombocytopenia0FANCE CL E G H21783586OMIM:600901Fanconi anemia, complementation group E.73
HP:0001873HP:0001873Thrombocytopenia0FANCF CL E G H21883587ORPHA:84Fanconi anemiaHP:0040281 - Very frequent87
HP:0001873HP:0001873Thrombocytopenia0FANCF CL E G H21883587OMIM:603467FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF87
HP:0001873HP:0001873Thrombocytopenia0FANCG CL E G H21893588ORPHA:84Fanconi anemiaHP:0040281 - Very frequent73
HP:0001873HP:0001873Thrombocytopenia0FANCG CL E G H21893588OMIM:614082FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG73
HP:0001873HP:0001873Thrombocytopenia0FANCI CL E G H5521525568ORPHA:84Fanconi anemiaHP:0040281 - Very frequent157
HP:0001873HP:0001873Thrombocytopenia0FANCL CL E G H5512020748ORPHA:84Fanconi anemiaHP:0040281 - Very frequent53
HP:0001873HP:0001873Thrombocytopenia0FANCM CL E G H5769723168ORPHA:84Fanconi anemiaHP:0040281 - Very frequent107
HP:0001873HP:0001873Thrombocytopenia0FARS2 CL E G H1066721062OMIM:614946Combined oxidative phosphorylation deficiency 14HP:0040283 - Occasional36
HP:0001873HP:0001873Thrombocytopenia0FAS CL E G H35511920ORPHA:3261Autoimmune lymphoproliferative syndrome59
HP:0001873HP:0001873Thrombocytopenia0FAS CL E G H35511920OMIM:601859Autoimmune lymphoproliferative syndrome59
HP:0001873HP:0001873Thrombocytopenia0FASLG CL E G H35611936ORPHA:3261Autoimmune lymphoproliferative syndrome37
HP:0001873HP:0001873Thrombocytopenia0FASLG CL E G H35611936OMIM:601859Autoimmune lymphoproliferative syndrome37
HP:0001873HP:0001873Thrombocytopenia0FCGR2A CL E G H22123616OMIM:152700Systemic lupus erythematosus.6
HP:0001873HP:0001873Thrombocytopenia0FCGR2B CL E G H22133618OMIM:152700Systemic lupus erythematosus.2
HP:0001873HP:0001873Thrombocytopenia0FCGR2C CL E G H910315626ORPHA:3002Immune thrombocytopeniaHP:0040281 - Very frequent
HP:0001873HP:0001873Thrombocytopenia0FIP1L1 CL E G H8160819124ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent4
HP:0001873HP:0001873Thrombocytopenia0FLI1 CL E G H23133749OMIM:617443Bleeding disorder, platelet-type, 21HP:0040284 - Very rare8
HP:0001873HP:0001873Thrombocytopenia0FLI1 CL E G H23133749ORPHA:2308Jacobsen syndromeHP:0040281 - Very frequent8
HP:0001873HP:0001873Thrombocytopenia0FLNA CL E G H23163754OMIM:300048Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked.493
HP:0001873HP:0001873Thrombocytopenia0FLT1 CL E G H23213763ORPHA:275555PreeclampsiaHP:0040284 - Very rare11
HP:0001873HP:0001873Thrombocytopenia0FOCAD CL E G H5491423377OMIM:6199913
HP:0001873HP:0001873Thrombocytopenia0FOXP3 CL E G H509436106ORPHA:37042Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome32
HP:0001873HP:0001873Thrombocytopenia0FOXP3 CL E G H509436106OMIM:304790Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked32
HP:0001873HP:0001873Thrombocytopenia0FYB1 CL E G H25334036OMIM:273900THROMBOCYTOPENIA 3; THC34
HP:0001873HP:0001873Thrombocytopenia0G6PC3 CL E G H9257924861OMIM:612541Neutropenia, severe congenital, 4, autosomal recessive.37
HP:0001873HP:0001873Thrombocytopenia0GALC CL E G H25814115OMIM:245200Krabbe disease160
HP:0001873HP:0001873Thrombocytopenia0GATA1 CL E G H26234170OMIM:300835Anemia, X-linked, with or without neutropenia and/or platelet abnormalitiesHP:0040283 - OccasionalHP:0003584 - Late onset29
HP:0001873HP:0001873Thrombocytopenia0GATA1 CL E G H26234170ORPHA:231393Beta-thalassemia-X-linked thrombocytopenia syndromeHP:0040281 - Very frequent29
HP:0001873HP:0001873Thrombocytopenia0GATA1 CL E G H26234170ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare29
HP:0001873HP:0001873Thrombocytopenia0GATA1 CL E G H26234170ORPHA:79277Congenital erythropoietic porphyriaHP:0040283 - Occasional29
HP:0001873HP:0001873Thrombocytopenia0GATA1 CL E G H26234170OMIM:314050Thrombocytopenia with beta-thalassemia, X-linked.29
HP:0001873HP:0001873Thrombocytopenia0GATA1 CL E G H26234170ORPHA:67044Thrombocytopenia with congenital dyserythropoietic anemia29
HP:0001873HP:0001873Thrombocytopenia0GATA1 CL E G H26234170OMIM:300367Thrombocytopenia, X-linked, with or without dyserythropoietic anemia29
HP:0001873HP:0001873Thrombocytopenia0GATA2 CL E G H26244171ORPHA:3226Deafness-lymphedema-leukemia syndromeHP:0040281 - Very frequent137
HP:0001873HP:0001873Thrombocytopenia0GBA1 CL E G H26294177ORPHA:85212Fetal Gaucher diseaseHP:0040281 - Very frequent
HP:0001873HP:0001873Thrombocytopenia0GBA1 CL E G H26294177ORPHA:77259Gaucher disease type 1HP:0040281 - Very frequent
HP:0001873HP:0001873Thrombocytopenia0GBA1 CL E G H26294177ORPHA:77261Gaucher disease type 3HP:0040282 - Frequent
HP:0001873HP:0001873Thrombocytopenia0GBA1 CL E G H26294177OMIM:608013Gaucher disease, perinatal lethal.
HP:0001873HP:0001873Thrombocytopenia0GBA1 CL E G H26294177OMIM:230800Gaucher disease, type I.
HP:0001873HP:0001873Thrombocytopenia0GBA1 CL E G H26294177OMIM:230900Gaucher disease, type II.
HP:0001873HP:0001873Thrombocytopenia0GBA1 CL E G H26294177OMIM:231000Gaucher disease, type III.
HP:0001873HP:0001873Thrombocytopenia0GBA1 CL E G H26294177ORPHA:2072Gaucher disease-ophthalmoplegia-cardiovascular calcification syndromeHP:0040282 - Frequent
HP:0001873HP:0001873Thrombocytopenia0GFI1B CL E G H83284238OMIM:187900Bleeding disorder, platelet-type, 17.3
HP:0001873HP:0001873Thrombocytopenia0GIMAP5 CL E G H5534018005OMIM:619463PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0001873HP:0001873Thrombocytopenia0GNA14 CL E G H96304382ORPHA:1063Tufted angiomaHP:0040283 - Occasional
HP:0001873HP:0001873Thrombocytopenia0GP1BA CL E G H28114439ORPHA:274Bernard-Soulier syndrome23
HP:0001873HP:0001873Thrombocytopenia0GP1BA CL E G H28114439OMIM:231200BERNARD-SOULIER SYNDROME; BSS23
HP:0001873HP:0001873Thrombocytopenia0GP1BA CL E G H28114439ORPHA:853Fetal and neonatal alloimmune thrombocytopenia23
HP:0001873HP:0001873Thrombocytopenia0GP1BA CL E G H28114439OMIM:177820Pseudo-Von willebrand disease23
HP:0001873HP:0001873Thrombocytopenia0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional8
HP:0001873HP:0001873Thrombocytopenia0GP1BB CL E G H28124440ORPHA:274Bernard-Soulier syndrome8
HP:0001873HP:0001873Thrombocytopenia0GP1BB CL E G H28124440OMIM:231200BERNARD-SOULIER SYNDROME; BSS8
HP:0001873HP:0001873Thrombocytopenia0GP1BB CL E G H28124440ORPHA:853Fetal and neonatal alloimmune thrombocytopenia8
HP:0001873HP:0001873Thrombocytopenia0GP9 CL E G H28154444ORPHA:274Bernard-Soulier syndrome21
HP:0001873HP:0001873Thrombocytopenia0GP9 CL E G H28154444OMIM:231200BERNARD-SOULIER SYNDROME; BSS21
HP:0001873HP:0001873Thrombocytopenia0GUCY1A1 CL E G H29824685ORPHA:401945Moyamoya disease with early-onset achalasiaHP:0040283 - Occasional
HP:0001873HP:0001873Thrombocytopenia0HEATR3 CL E G H5502726087OMIM:620072
HP:0001873HP:0001873Thrombocytopenia0HELLPAR CL E G H10110169243984ORPHA:244242HELLP syndromeHP:0040280 - Obligate
HP:0001873HP:0001873Thrombocytopenia0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional3
HP:0001873HP:0001873Thrombocytopenia0HLA-B CL E G H31064932ORPHA:36426Stevens-Johnson syndromeHP:0040283 - Occasional4
HP:0001873HP:0001873Thrombocytopenia0HLA-DRB1 CL E G H31234948ORPHA:797SarcoidosisHP:0040282 - Frequent2
HP:0001873HP:0001873Thrombocytopenia0HLCS CL E G H31414976ORPHA:79242Holocarboxylase synthetase deficiencyHP:0040283 - Occasional148
HP:0001873HP:0001873Thrombocytopenia0HLCS CL E G H31414976OMIM:253270Holocarboxylase synthetase deficiency.148
HP:0001873HP:0001873Thrombocytopenia0HOXA11 CL E G H32075101ORPHA:71289Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome3
HP:0001873HP:0001873Thrombocytopenia0HOXA11 CL E G H32075101OMIM:605432Radioulnar synostosis with amegakaryocytic thrombocytopenia3
HP:0001873HP:0001873Thrombocytopenia0HSCB CL E G H15027428913OMIM:619523ANEMIA, SIDEROBLASTIC, 5; SIDBA5
HP:0001873HP:0001873Thrombocytopenia0ICOS CL E G H298515351ORPHA:1572Common variable immunodeficiency32
HP:0001873HP:0001873Thrombocytopenia0IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndrome28
HP:0001873HP:0001873Thrombocytopenia0IFIH1 CL E G H6413518873OMIM:615846Aicardi-Goutieres syndrome 7HP:0040283 - Occasional28
HP:0001873HP:0001873Thrombocytopenia0IFNG CL E G H34585438ORPHA:88Idiopathic aplastic anemiaHP:0040283 - Occasional23
HP:0001873HP:0001873Thrombocytopenia0IKZF1 CL E G H1032013176ORPHA:36426Stevens-Johnson syndromeHP:0040283 - Occasional8
HP:0001873HP:0001873Thrombocytopenia0IKZF5 CL E G H6437614283OMIM:619130THROMBOCYTOPENIA 7; THC7
HP:0001873HP:0001873Thrombocytopenia0IL6ST CL E G H35726021OMIM:619751STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0001873HP:0001873Thrombocytopenia0IL7R CL E G H35756024ORPHA:169154T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency94
HP:0001873HP:0001873Thrombocytopenia0IRAK1 CL E G H36546112ORPHA:93552Pediatric systemic lupus erythematosusHP:0040282 - Frequent
HP:0001873HP:0001873Thrombocytopenia0IRF2BP2 CL E G H35994821729ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent4
HP:0001873HP:0001873Thrombocytopenia0IRF2BP2 CL E G H35994821729ORPHA:1572Common variable immunodeficiency4
HP:0001873HP:0001873Thrombocytopenia0IRF8 CL E G H33945358OMIM:226990Immunodeficiency 32B5
HP:0001873HP:0001873Thrombocytopenia0ITGA2 CL E G H36736137ORPHA:853Fetal and neonatal alloimmune thrombocytopenia119
HP:0001873HP:0001873Thrombocytopenia0ITGA2B CL E G H36746138OMIM:187800Bleeding disorder, platelet-type, 1669
HP:0001873HP:0001873Thrombocytopenia0ITGA2B CL E G H36746138ORPHA:853Fetal and neonatal alloimmune thrombocytopenia69
HP:0001873HP:0001873Thrombocytopenia0ITGB3 CL E G H36906156OMIM:619271BLEEDING DISORDER, PLATELET-TYPE, 24; BDPLT2480
HP:0001873HP:0001873Thrombocytopenia0ITGB3 CL E G H36906156ORPHA:853Fetal and neonatal alloimmune thrombocytopenia80
HP:0001873HP:0001873Thrombocytopenia0ITK CL E G H37026171OMIM:613011LYMPHOPROLIFERATIVE SYNDROME 1; LPFS151
HP:0001873HP:0001873Thrombocytopenia0IVD CL E G H37126186OMIM:243500Isovaleric acidemia.105
HP:0001873HP:0001873Thrombocytopenia0JAK2 CL E G H37176192ORPHA:824Primary myelofibrosisHP:0040282 - Frequent57
HP:0001873HP:0001873Thrombocytopenia0JAM2 CL E G H5849414686ORPHA:1980Bilateral striopallidodentate calcinosisHP:0040281 - Very frequent
HP:0001873HP:0001873Thrombocytopenia0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional2
HP:0001873HP:0001873Thrombocytopenia0KDM6A CL E G H740312637OMIM:147920Kabuki syndrome 153
HP:0001873HP:0001873Thrombocytopenia0KIF15 CL E G H5699217273OMIM:619981
HP:0001873HP:0001873Thrombocytopenia0KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndromeHP:0040281 - Very frequent
HP:0001873HP:0001873Thrombocytopenia0KIT CL E G H38156342ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040282 - Frequent327
HP:0001873HP:0001873Thrombocytopenia0KMT2D CL E G H80857133OMIM:147920Kabuki syndrome 1660
HP:0001873HP:0001873Thrombocytopenia0KRAS CL E G H38456407OMIM:614470RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic196
HP:0001873HP:0001873Thrombocytopenia0LARS2 CL E G H2339517095OMIM:617021Hydrops, lactic acidosis, and sideroblastic anemia.54
HP:0001873HP:0001873Thrombocytopenia0LAT CL E G H2704018874OMIM:617514Immunodeficiency 522
HP:0001873HP:0001873Thrombocytopenia0LBR CL E G H39306518OMIM:169400Pelger-Huet anomaly70
HP:0001873HP:0001873Thrombocytopenia0LIG4 CL E G H39816601ORPHA:235Dubowitz syndromeHP:0040283 - Occasional88
HP:0001873HP:0001873Thrombocytopenia0LIG4 CL E G H39816601OMIM:606593Lig4 syndrome.88
HP:0001873HP:0001873Thrombocytopenia0LIPA CL E G H39886617OMIM:278000Lysosomal acid lipase deficiency73
HP:0001873HP:0001873Thrombocytopenia0LMBRD1 CL E G H5578823038OMIM:277380Methylmalonic aciduria and homocystinuria, Cblf type.46
HP:0001873HP:0001873Thrombocytopenia0LRBA CL E G H9871742OMIM:614700IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID845
HP:0001873HP:0001873Thrombocytopenia0LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndrome
HP:0001873HP:0001873Thrombocytopenia0LYST CL E G H11301968ORPHA:167Chédiak-Higashi syndromeHP:0040283 - Occasional239
HP:0001873HP:0001873Thrombocytopenia0LYST CL E G H11301968OMIM:214500Chediak-Higashi syndrome239
HP:0001873HP:0001873Thrombocytopenia0MAD2L2 CL E G H104596764ORPHA:84Fanconi anemiaHP:0040281 - Very frequent1
HP:0001873HP:0001873Thrombocytopenia0MAD2L2 CL E G H104596764OMIM:617243Fanconi anemia, complementation group V.1
HP:0001873HP:0001873Thrombocytopenia0MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0001873HP:0001873Thrombocytopenia0MADD CL E G H85676766OMIM:619005NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH5
HP:0001873HP:0001873Thrombocytopenia0MAGT1 CL E G H8406128880OMIM:300853IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN17
HP:0001873HP:0001873Thrombocytopenia0MAP2K1 CL E G H56046840OMIM:163950Noonan syndrome 1134
HP:0001873HP:0001873Thrombocytopenia0MECOM CL E G H21223498ORPHA:71289Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome4
HP:0001873HP:0001873Thrombocytopenia0MECOM CL E G H21223498OMIM:616738RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT24
HP:0001873HP:0001873Thrombocytopenia0MED12 CL E G H996811957OMIM:301068HARDIKAR SYNDROME; HDKR228
HP:0001873HP:0001873Thrombocytopenia0MMAA CL E G H16678518871OMIM:251100Methylmalonic aciduria, Cbla type.113
HP:0001873HP:0001873Thrombocytopenia0MMAB CL E G H32662519331OMIM:251110Methylmalonic aciduria, Cblb type.127
HP:0001873HP:0001873Thrombocytopenia0MMACHC CL E G H2597424525ORPHA:79282Methylmalonic acidemia with homocystinuria, type cblCHP:0040282 - Frequent101
HP:0001873HP:0001873Thrombocytopenia0MMACHC CL E G H2597424525OMIM:277400Methylmalonic aciduria and homocystinuria, Cblc type.101
HP:0001873HP:0001873Thrombocytopenia0MMUT CL E G H45947526OMIM:251000Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency.
HP:0001873HP:0001873Thrombocytopenia0MMUT CL E G H45947526ORPHA:79312Vitamin B12-unresponsive methylmalonic acidemia type mut-HP:0040283 - Occasional
HP:0001873HP:0001873Thrombocytopenia0MMUT CL E G H45947526ORPHA:289916Vitamin B12-unresponsive methylmalonic acidemia type mut0HP:0040282 - Frequent
HP:0001873HP:0001873Thrombocytopenia0MOGS CL E G H784124862ORPHA:79330MOGS-CDGHP:0040283 - Occasional37
HP:0001873HP:0001873Thrombocytopenia0MPIG6B CL E G H8073913937OMIM:617441Thrombocytopenia, anemia, and myelofibrosis.1
HP:0001873HP:0001873Thrombocytopenia0MPL CL E G H43527217OMIM:604498Amegakaryocytic thrombocytopenia, congenital.97
HP:0001873HP:0001873Thrombocytopenia0MPL CL E G H43527217ORPHA:3319Congenital amegakaryocytic thrombocytopeniaHP:0040281 - Very frequent97
HP:0001873HP:0001873Thrombocytopenia0MPL CL E G H43527217ORPHA:824Primary myelofibrosisHP:0040282 - Frequent97
HP:0001873HP:0001873Thrombocytopenia0MS4A1 CL E G H9317315ORPHA:1572Common variable immunodeficiency1
HP:0001873HP:0001873Thrombocytopenia0MTOR CL E G H24753942OMIM:616638Smith-Kingsmore syndrome.68
HP:0001873HP:0001873Thrombocytopenia0MVK CL E G H45987530OMIM:610377Mevalonic aciduria150
HP:0001873HP:0001873Thrombocytopenia0MYH9 CL E G H46277579OMIM:155100Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss.297
HP:0001873HP:0001873Thrombocytopenia0MYH9 CL E G H46277579ORPHA:182050MYH9-related disease297
HP:0001873HP:0001873Thrombocytopenia0MYORG CL E G H5746219918ORPHA:1980Bilateral striopallidodentate calcinosisHP:0040281 - Very frequent
HP:0001873HP:0001873Thrombocytopenia0MYSM1 CL E G H11480329401OMIM:618116Bone marrow failure syndrome 4HP:0040284 - Very rare
HP:0001873HP:0001873Thrombocytopenia0MYSM1 CL E G H11480329401ORPHA:508542Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndromeHP:0040282 - Frequent
HP:0001873HP:0001873Thrombocytopenia0NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0001873HP:0001873Thrombocytopenia0NABP1 CL E G H6485926232ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent
HP:0001873HP:0001873Thrombocytopenia0NBEAL2 CL E G H2321831928ORPHA:721Gray platelet syndromeHP:0040281 - Very frequent127
HP:0001873HP:0001873Thrombocytopenia0NBEAL2 CL E G H2321831928OMIM:139090Gray platelet syndrome.127
HP:0001873HP:0001873Thrombocytopenia0NBN CL E G H46837652OMIM:251260Nijmegen breakage syndrome.706
HP:0001873HP:0001873Thrombocytopenia0NBN CL E G H46837652ORPHA:647Nijmegen breakage syndromeHP:0040281 - Very frequent706
HP:0001873HP:0001873Thrombocytopenia0NFKB1 CL E G H47907794ORPHA:1572Common variable immunodeficiency7
HP:0001873HP:0001873Thrombocytopenia0NFKB1 CL E G H47907794OMIM:616576IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID127
HP:0001873HP:0001873Thrombocytopenia0NFKB2 CL E G H47917795ORPHA:1572Common variable immunodeficiency11
HP:0001873HP:0001873Thrombocytopenia0NFKB2 CL E G H47917795ORPHA:293978Deficiency in anterior pituitary function-variable immunodeficiency syndrome11
HP:0001873HP:0001873Thrombocytopenia0NHEJ1 CL E G H7984025737ORPHA:169079Cernunnos-XLF deficiencyHP:0040282 - Frequent20
HP:0001873HP:0001873Thrombocytopenia0NHP2 CL E G H5565114377ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent27
HP:0001873HP:0001873Thrombocytopenia0NHP2 CL E G H5565114377OMIM:224230Dyskeratosis congenita, autosomal recessive 1.27
HP:0001873HP:0001873Thrombocytopenia0NHP2 CL E G H5565114377OMIM:613987Dyskeratosis congenita, autosomal recessive, 2.27
HP:0001873HP:0001873Thrombocytopenia0NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1.494
HP:0001873HP:0001873Thrombocytopenia0NLRC4 CL E G H5848416412OMIM:616050AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC30
HP:0001873HP:0001873Thrombocytopenia0NOP10 CL E G H5550514378ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent17
HP:0001873HP:0001873Thrombocytopenia0NOP10 CL E G H5550514378OMIM:224230Dyskeratosis congenita, autosomal recessive 1.17
HP:0001873HP:0001873Thrombocytopenia0NOS3 CL E G H48467876OMIM:189800Preeclampsia/eclampsia 1.8
HP:0001873HP:0001873Thrombocytopenia0NOTCH1 CL E G H48517881ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional452
HP:0001873HP:0001873Thrombocytopenia0NPM1 CL E G H48697910ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent12
HP:0001873HP:0001873Thrombocytopenia0NPM1 CL E G H48697910ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent12
HP:0001873HP:0001873Thrombocytopenia0NRAS CL E G H48937989OMIM:614470RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic102
HP:0001873HP:0001873Thrombocytopenia0NSUN2 CL E G H5488825994ORPHA:235Dubowitz syndromeHP:0040283 - Occasional84
HP:0001873HP:0001873Thrombocytopenia0NUMA1 CL E G H49268059ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent
HP:0001873HP:0001873Thrombocytopenia0OCLN CL E G H1005066588104OMIM:251290Band-Like calcification with simplified gyration and polymicrogyria.23
HP:0001873HP:0001873Thrombocytopenia0OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of LoweHP:0040282 - Frequent88
HP:0001873HP:0001873Thrombocytopenia0OSTM1 CL E G H2896221652OMIM:259720Osteopetrosis, autosomal recessive 5.73
HP:0001873HP:0001873Thrombocytopenia0OTUD5 CL E G H5559325402OMIM:301056MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0001873HP:0001873Thrombocytopenia0PALB2 CL E G H7972826144ORPHA:84Fanconi anemiaHP:0040281 - Very frequent1349
HP:0001873HP:0001873Thrombocytopenia0PARN CL E G H50738609ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent26
HP:0001873HP:0001873Thrombocytopenia0PARN CL E G H50738609ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040281 - Very frequent26
HP:0001873HP:0001873Thrombocytopenia0PCCA CL E G H50958653OMIM:606054Propionic acidemia.96
HP:0001873HP:0001873Thrombocytopenia0PCCB CL E G H50968654OMIM:606054Propionic acidemia.92
HP:0001873HP:0001873Thrombocytopenia0PDGFB CL E G H51558800ORPHA:1980Bilateral striopallidodentate calcinosisHP:0040281 - Very frequent9
HP:0001873HP:0001873Thrombocytopenia0PDGFRB CL E G H51598804ORPHA:1980Bilateral striopallidodentate calcinosisHP:0040281 - Very frequent28
HP:0001873HP:0001873Thrombocytopenia0PEPD CL E G H51848840OMIM:170100Prolidase deficiency66
HP:0001873HP:0001873Thrombocytopenia0PHGDH CL E G H262278923OMIM:601815Phosphoglycerate dehydrogenase deficiency.37
HP:0001873HP:0001873Thrombocytopenia0PIGA CL E G H52778957OMIM:301072NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH46
HP:0001873HP:0001873Thrombocytopenia0PIGA CL E G H52778957ORPHA:447Paroxysmal nocturnal hemoglobinuriaHP:0040283 - Occasional46
HP:0001873HP:0001873Thrombocytopenia0PIK3CG CL E G H52948978OMIM:619802IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD972
HP:0001873HP:0001873Thrombocytopenia0PKHD1 CL E G H53149016ORPHA:731Autosomal recessive polycystic kidney diseaseHP:0040283 - Occasional563
HP:0001873HP:0001873Thrombocytopenia0PLAU CL E G H53289052OMIM:601709Quebec platelet disorder.50
HP:0001873HP:0001873Thrombocytopenia0PML CL E G H53719113ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent3
HP:0001873HP:0001873Thrombocytopenia0PNP CL E G H48607892OMIM:613179Immunodeficiency due to purine nucleoside phosphorylase deficiency52
HP:0001873HP:0001873Thrombocytopenia0PNP CL E G H48607892ORPHA:760Purine nucleoside phosphorylase deficiency52
HP:0001873HP:0001873Thrombocytopenia0POLRMT CL E G H54429200OMIM:619743COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD551
HP:0001873HP:0001873Thrombocytopenia0POMP CL E G H5137120330OMIM:618048Proteasome-Associated autoinflammatory syndrome 2.2
HP:0001873HP:0001873Thrombocytopenia0PPIL1 CL E G H516459260OMIM:619301PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0001873HP:0001873Thrombocytopenia0PRDX1 CL E G H50529352OMIM:277400Methylmalonic aciduria and homocystinuria, Cblc type.
HP:0001873HP:0001873Thrombocytopenia0PRF1 CL E G H55519360ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040281 - Very frequent58
HP:0001873HP:0001873Thrombocytopenia0PRF1 CL E G H55519360OMIM:603553Hemophagocytic lymphohistiocytosis, familial, 258
HP:0001873HP:0001873Thrombocytopenia0PRF1 CL E G H55519360ORPHA:88Idiopathic aplastic anemiaHP:0040283 - Occasional58
HP:0001873HP:0001873Thrombocytopenia0PRIM1 CL E G H55579369OMIM:620005
HP:0001873HP:0001873Thrombocytopenia0PRKACG CL E G H55689382OMIM:616176Bleeding disorder, platelet-type, 192
HP:0001873HP:0001873Thrombocytopenia0PRKAR1A CL E G H55739388ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent134
HP:0001873HP:0001873Thrombocytopenia0PRKCD CL E G H55809399ORPHA:3261Autoimmune lymphoproliferative syndrome10
HP:0001873HP:0001873Thrombocytopenia0PRKCD CL E G H55809399OMIM:615559AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS310
HP:0001873HP:0001873Thrombocytopenia0PRKCD CL E G H55809399ORPHA:1572Common variable immunodeficiency10
HP:0001873HP:0001873Thrombocytopenia0PSAP CL E G H56609498OMIM:610539Gaucher disease, atypical81
HP:0001873HP:0001873Thrombocytopenia0PSMB4 CL E G H56929541OMIM:617591Proteasome-Associated autoinflammatory syndrome 3.
HP:0001873HP:0001873Thrombocytopenia0PSMB8 CL E G H56969545OMIM:256040Proteasome-associated autoinflammatory syndrome 1 and digenic forms20
HP:0001873HP:0001873Thrombocytopenia0PSMB9 CL E G H56989546OMIM:617591Proteasome-Associated autoinflammatory syndrome 3.
HP:0001873HP:0001873Thrombocytopenia0PTPN11 CL E G H57819644OMIM:163950Noonan syndrome 1291
HP:0001873HP:0001873Thrombocytopenia0PTPN22 CL E G H261919652OMIM:152700Systemic lupus erythematosus.3
HP:0001873HP:0001873Thrombocytopenia0RAD51 CL E G H58889817ORPHA:84Fanconi anemiaHP:0040281 - Very frequent9
HP:0001873HP:0001873Thrombocytopenia0RAD51C CL E G H58899820ORPHA:84Fanconi anemiaHP:0040281 - Very frequent391
HP:0001873HP:0001873Thrombocytopenia0RAG1 CL E G H58969831OMIM:603554Omenn syndrome.127
HP:0001873HP:0001873Thrombocytopenia0RAG1 CL E G H58969831ORPHA:331206Severe combined immunodeficiency due to complete RAG1/2 deficiencyHP:0040283 - Occasional127
HP:0001873HP:0001873Thrombocytopenia0RAG2 CL E G H58979832OMIM:603554Omenn syndrome.50
HP:0001873HP:0001873Thrombocytopenia0RAG2 CL E G H58979832ORPHA:331206Severe combined immunodeficiency due to complete RAG1/2 deficiencyHP:0040283 - Occasional50
HP:0001873HP:0001873Thrombocytopenia0RARA CL E G H59149864ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent2
HP:0001873HP:0001873Thrombocytopenia0RASGRP1 CL E G H101259878ORPHA:3261Autoimmune lymphoproliferative syndrome
HP:0001873HP:0001873Thrombocytopenia0RASGRP1 CL E G H101259878OMIM:618534IMMUNODEFICIENCY 64; IMD64
HP:0001873HP:0001873Thrombocytopenia0RBM8A CL E G H99399905ORPHA:3320Thrombocytopenia-absent radius syndromeHP:0040281 - Very frequent10
HP:0001873HP:0001873Thrombocytopenia0RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0001873HP:0001873Thrombocytopenia0RBPJ CL E G H35165724ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional3
HP:0001873HP:0001873Thrombocytopenia0RFWD3 CL E G H5515925539ORPHA:84Fanconi anemiaHP:0040281 - Very frequent
HP:0001873HP:0001873Thrombocytopenia0RFX5 CL E G H59939986ORPHA:572Immunodeficiency by defective expression of MHC class II38
HP:0001873HP:0001873Thrombocytopenia0RFXANK CL E G H86259987ORPHA:572Immunodeficiency by defective expression of MHC class II26
HP:0001873HP:0001873Thrombocytopenia0RFXAP CL E G H59949988ORPHA:572Immunodeficiency by defective expression of MHC class II34
HP:0001873HP:0001873Thrombocytopenia0RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndrome33
HP:0001873HP:0001873Thrombocytopenia0RNASEH2A CL E G H1053518518OMIM:610333Aicardi-Goutieres syndrome 433
HP:0001873HP:0001873Thrombocytopenia0RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndrome34
HP:0001873HP:0001873Thrombocytopenia0RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndrome60
HP:0001873HP:0001873Thrombocytopenia0RNASEH2C CL E G H8415324116OMIM:610329Aicardi-Goutieres syndrome 360
HP:0001873HP:0001873Thrombocytopenia0RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndrome
HP:0001873HP:0001873Thrombocytopenia0RPL11 CL E G H613510301ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare22
HP:0001873HP:0001873Thrombocytopenia0RPL15 CL E G H613810306ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare3
HP:0001873HP:0001873Thrombocytopenia0RPL18 CL E G H614110310ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0001873HP:0001873Thrombocytopenia0RPL26 CL E G H615410327ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare3
HP:0001873HP:0001873Thrombocytopenia0RPL27 CL E G H615510328ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0001873HP:0001873Thrombocytopenia0RPL31 CL E G H616010334ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0001873HP:0001873Thrombocytopenia0RPL35 CL E G H1122410344ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0001873HP:0001873Thrombocytopenia0RPL35A CL E G H616510345ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare11
HP:0001873HP:0001873Thrombocytopenia0RPL5 CL E G H612510360ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare40
HP:0001873HP:0001873Thrombocytopenia0RPS10 CL E G H620410383ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare26
HP:0001873HP:0001873Thrombocytopenia0RPS15A CL E G H621010389ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0001873HP:0001873Thrombocytopenia0RPS17 CL E G H621810397ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare5
HP:0001873HP:0001873Thrombocytopenia0RPS19 CL E G H622310402ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare42
HP:0001873HP:0001873Thrombocytopenia0RPS19 CL E G H622310402OMIM:105650Diamond-Blackfan anemia 142
HP:0001873HP:0001873Thrombocytopenia0RPS20 CL E G H622410405ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0001873HP:0001873Thrombocytopenia0RPS24 CL E G H622910411ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare22
HP:0001873HP:0001873Thrombocytopenia0RPS26 CL E G H623110414ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare20
HP:0001873HP:0001873Thrombocytopenia0RPS27 CL E G H623210416ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0001873HP:0001873Thrombocytopenia0RPS28 CL E G H623410418ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0001873HP:0001873Thrombocytopenia0RPS29 CL E G H623510419ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare3
HP:0001873HP:0001873Thrombocytopenia0RPS7 CL E G H620110440ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare20
HP:0001873HP:0001873Thrombocytopenia0RRAS2 CL E G H2280017271OMIM:618624NOONAN SYNDROME 12; NS121
HP:0001873HP:0001873Thrombocytopenia0RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0001873HP:0001873Thrombocytopenia0RTEL1 CL E G H5175015888ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent77
HP:0001873HP:0001873Thrombocytopenia0RTEL1 CL E G H5175015888ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040281 - Very frequent77
HP:0001873HP:0001873Thrombocytopenia0RUNX1 CL E G H86110471ORPHA:98850Aggressive systemic mastocytosisHP:0040283 - Occasional181
HP:0001873HP:0001873Thrombocytopenia0RUNX1 CL E G H86110471ORPHA:521Chronic myeloid leukemiaHP:0040282 - Frequent181
HP:0001873HP:0001873Thrombocytopenia0RUNX1 CL E G H86110471OMIM:601399Platelet disorder, familial, with associated myeloid malignancy.181
HP:0001873HP:0001873Thrombocytopenia0RYR1 CL E G H626110483ORPHA:466650Exercise-induced malignant hyperthermiaHP:0040284 - Very rare1200
HP:0001873HP:0001873Thrombocytopenia0SALL4 CL E G H5716715924OMIM:147750Ivic syndrome86
HP:0001873HP:0001873Thrombocytopenia0SALL4 CL E G H5716715924ORPHA:2307IVIC syndromeHP:0040283 - Occasional86
HP:0001873HP:0001873Thrombocytopenia0SAMD9 CL E G H548091348OMIM:617053Mirage syndrome.8
HP:0001873HP:0001873Thrombocytopenia0SAMD9 CL E G H548091348OMIM:619041MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2; M7MLS28
HP:0001873HP:0001873Thrombocytopenia0SAMD9L CL E G H2192851349OMIM:159550Ataxia-Pancytopenia syndrome4
HP:0001873HP:0001873Thrombocytopenia0SAMD9L CL E G H2192851349OMIM:252270Myelodysplasia and leukemia syndrome with monosomy 7.4
HP:0001873HP:0001873Thrombocytopenia0SAMHD1 CL E G H2593915925ORPHA:51Aicardi-Goutières syndrome55
HP:0001873HP:0001873Thrombocytopenia0SAMHD1 CL E G H2593915925OMIM:612952Aicardi-Goutieres syndrome 5.55
HP:0001873HP:0001873Thrombocytopenia0SARS2 CL E G H5493817697OMIM:613845Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome.60
HP:0001873HP:0001873Thrombocytopenia0SASH3 CL E G H5444015975OMIM:3010821
HP:0001873HP:0001873Thrombocytopenia0SBDS CL E G H5111919440ORPHA:88Idiopathic aplastic anemiaHP:0040283 - Occasional26
HP:0001873HP:0001873Thrombocytopenia0SBDS CL E G H5111919440ORPHA:811Shwachman-Diamond syndromeHP:0040282 - Frequent26
HP:0001873HP:0001873Thrombocytopenia0SBDS CL E G H5111919440OMIM:260400Shwachman-Diamond syndrome 1.26
HP:0001873HP:0001873Thrombocytopenia0SC5D CL E G H630910547ORPHA:46059LathosterolosisHP:0040282 - Frequent80
HP:0001873HP:0001873Thrombocytopenia0SCARB2 CL E G H9501665OMIM:254900Epilepsy, progressive myoclonic, 4, with or without renal failure.77
HP:0001873HP:0001873Thrombocytopenia0SCARB2 CL E G H9501665ORPHA:77259Gaucher disease type 1HP:0040281 - Very frequent77
HP:0001873HP:0001873Thrombocytopenia0SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0001873HP:0001873Thrombocytopenia0SF3B1 CL E G H2345110768ORPHA:75564Acquired idiopathic sideroblastic anemiaHP:0040283 - Occasional19
HP:0001873HP:0001873Thrombocytopenia0SH2D1A CL E G H406810820OMIM:308240Lymphoproliferative syndrome, X-linked, 1.37
HP:0001873HP:0001873Thrombocytopenia0SLC19A2 CL E G H1056010938ORPHA:49827Thiamine-responsive megaloblastic anemia syndromeHP:0040282 - Frequent55
HP:0001873HP:0001873Thrombocytopenia0SLC19A2 CL E G H1056010938OMIM:249270Thiamine-Responsive megaloblastic anemia syndrome.55
HP:0001873HP:0001873Thrombocytopenia0SLC20A2 CL E G H657510947ORPHA:1980Bilateral striopallidodentate calcinosisHP:0040281 - Very frequent70
HP:0001873HP:0001873Thrombocytopenia0SLC35A1 CL E G H1055911021OMIM:603585Congenital disorder of glycosylation, type IIf24
HP:0001873HP:0001873Thrombocytopenia0SLC35A1 CL E G H1055911021ORPHA:238459SLC35A1-CDGHP:0040281 - Very frequent24
HP:0001873HP:0001873Thrombocytopenia0SLC37A4 CL E G H25424061OMIM:619525CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W110
HP:0001873HP:0001873Thrombocytopenia0SLC39A7 CL E G H79224927OMIM:619693AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9
HP:0001873HP:0001873Thrombocytopenia0SLC46A1 CL E G H11323530521OMIM:229050Folate malabsorption, hereditary.101
HP:0001873HP:0001873Thrombocytopenia0SLC46A1 CL E G H11323530521ORPHA:90045Hereditary folate malabsorptionHP:0040283 - Occasional101
HP:0001873HP:0001873Thrombocytopenia0SLC7A7 CL E G H905611065ORPHA:470Lysinuric protein intoleranceHP:0040282 - Frequent104
HP:0001873HP:0001873Thrombocytopenia0SLC7A7 CL E G H905611065OMIM:222700Lysinuric protein intolerance.104
HP:0001873HP:0001873Thrombocytopenia0SLFN14 CL E G H34261832689OMIM:616913Bleeding disorder, platelet-type, 20.6
HP:0001873HP:0001873Thrombocytopenia0SLX4 CL E G H8446423845ORPHA:84Fanconi anemiaHP:0040281 - Very frequent274
HP:0001873HP:0001873Thrombocytopenia0SMARCAL1 CL E G H5048511102OMIM:242900Immunoosseous dysplasia, Schimke type.74
HP:0001873HP:0001873Thrombocytopenia0SMARCAL1 CL E G H5048511102ORPHA:1830Schimke immuno-osseous dysplasiaHP:0040283 - Occasional74
HP:0001873HP:0001873Thrombocytopenia0SMARCD2 CL E G H660311107OMIM:617475SPECIFIC GRANULE DEFICIENCY 2; SGD23
HP:0001873HP:0001873Thrombocytopenia0SMPD1 CL E G H660911120ORPHA:77293Niemann-Pick disease type BHP:0040282 - Frequent164
HP:0001873HP:0001873Thrombocytopenia0SMPD1 CL E G H660911120OMIM:607616Niemann-pick disease, type B164
HP:0001873HP:0001873Thrombocytopenia0SNX10 CL E G H2988714974OMIM:615085Osteopetrosis, autosomal recessive 8.2
HP:0001873HP:0001873Thrombocytopenia0SOCS1 CL E G H865119383OMIM:619375AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD6
HP:0001873HP:0001873Thrombocytopenia0SOS1 CL E G H665411187OMIM:610733Noonan syndrome 4315
HP:0001873HP:0001873Thrombocytopenia0SP110 CL E G H34315401ORPHA:79124Hepatic veno-occlusive disease-immunodeficiency syndromeHP:0040283 - Occasional49
HP:0001873HP:0001873Thrombocytopenia0SPATA5 CL E G H16637818119OMIM:616577Epilepsy, hearing loss, and mental retardation syndromeHP:0040283 - Occasional19
HP:0001873HP:0001873Thrombocytopenia0SPATA5 CL E G H16637818119ORPHA:457351Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndromeHP:0040283 - Occasional19
HP:0001873HP:0001873Thrombocytopenia0SPP1 CL E G H669611255ORPHA:93552Pediatric systemic lupus erythematosusHP:0040282 - Frequent
HP:0001873HP:0001873Thrombocytopenia0SRC CL E G H671411283OMIM:616937Thrombocytopenia 615
HP:0001873HP:0001873Thrombocytopenia0SRP54 CL E G H672911301ORPHA:811Shwachman-Diamond syndromeHP:0040282 - Frequent
HP:0001873HP:0001873Thrombocytopenia0SRP54 CL E G H672911301OMIM:260400Shwachman-Diamond syndrome 1.
HP:0001873HP:0001873Thrombocytopenia0SRSF2 CL E G H642710783ORPHA:98850Aggressive systemic mastocytosisHP:0040283 - Occasional1
HP:0001873HP:0001873Thrombocytopenia0SRSF2 CL E G H642710783ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040282 - Frequent1
HP:0001873HP:0001873Thrombocytopenia0STAT1 CL E G H677211362ORPHA:391487Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndromeHP:0040283 - Occasional89
HP:0001873HP:0001873Thrombocytopenia0STAT2 CL E G H677311363OMIM:618886PSEUDO-TORCH SYNDROME 3; PTORCH39
HP:0001873HP:0001873Thrombocytopenia0STAT3 CL E G H677411364ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent110
HP:0001873HP:0001873Thrombocytopenia0STAT3 CL E G H677411364OMIM:615952AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1110
HP:0001873HP:0001873Thrombocytopenia0STAT4 CL E G H677511365ORPHA:93552Pediatric systemic lupus erythematosusHP:0040282 - Frequent2
HP:0001873HP:0001873Thrombocytopenia0STAT5B CL E G H677711367ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent12
HP:0001873HP:0001873Thrombocytopenia0STIM1 CL E G H678611386OMIM:612783Immunodeficiency 10.31
HP:0001873HP:0001873Thrombocytopenia0STIM1 CL E G H678611386OMIM:185070Stormorken syndrome.31
HP:0001873HP:0001873Thrombocytopenia0STOX1 CL E G H21973623508ORPHA:275555PreeclampsiaHP:0040284 - Very rare2
HP:0001873HP:0001873Thrombocytopenia0STT3B CL E G H20159530611OMIM:615597Congenital disorder of glycosylation, type Ix.18
HP:0001873HP:0001873Thrombocytopenia0STT3B CL E G H20159530611ORPHA:370924STT3B-CDGHP:0040282 - Frequent18
HP:0001873HP:0001873Thrombocytopenia0STX11 CL E G H867611429ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040281 - Very frequent85
HP:0001873HP:0001873Thrombocytopenia0STX11 CL E G H867611429OMIM:603552HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL485
HP:0001873HP:0001873Thrombocytopenia0STXBP2 CL E G H681311445ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040281 - Very frequent70
HP:0001873HP:0001873Thrombocytopenia0STXBP2 CL E G H681311445OMIM:613101HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL570
HP:0001873HP:0001873Thrombocytopenia0TALDO1 CL E G H688811559ORPHA:101028Transaldolase deficiencyHP:0040281 - Very frequent34
HP:0001873HP:0001873Thrombocytopenia0TALDO1 CL E G H688811559OMIM:606003Transaldolase deficiency.34
HP:0001873HP:0001873Thrombocytopenia0TBL1XR1 CL E G H7971829529ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent22
HP:0001873HP:0001873Thrombocytopenia0TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional32
HP:0001873HP:0001873Thrombocytopenia0TBX1 CL E G H689911592OMIM:188400Digeorge syndrome32
HP:0001873HP:0001873Thrombocytopenia0TBXAS1 CL E G H691611609OMIM:231095Ghosal hematodiaphyseal dysplasia.16
HP:0001873HP:0001873Thrombocytopenia0TCIRG1 CL E G H1031211647OMIM:259700Osteopetrosis, autosomal recessive 182
HP:0001873HP:0001873Thrombocytopenia0TCN2 CL E G H694811653ORPHA:859Transcobalamin deficiencyHP:0040282 - Frequent57
HP:0001873HP:0001873Thrombocytopenia0TERC CL E G H701211727ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent48
HP:0001873HP:0001873Thrombocytopenia0TERC CL E G H701211727OMIM:127550Dyskeratosis congenita, autosomal dominant, 1.48
HP:0001873HP:0001873Thrombocytopenia0TERC CL E G H701211727ORPHA:88Idiopathic aplastic anemiaHP:0040283 - Occasional48
HP:0001873HP:0001873Thrombocytopenia0TERT CL E G H701511730ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent238
HP:0001873HP:0001873Thrombocytopenia0TERT CL E G H701511730OMIM:613989Dyskeratosis congenita, autosomal dominant 2.238
HP:0001873HP:0001873Thrombocytopenia0TERT CL E G H701511730OMIM:127550Dyskeratosis congenita, autosomal dominant, 1.238
HP:0001873HP:0001873Thrombocytopenia0TERT CL E G H701511730ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040281 - Very frequent238
HP:0001873HP:0001873Thrombocytopenia0TERT CL E G H701511730ORPHA:88Idiopathic aplastic anemiaHP:0040283 - Occasional238
HP:0001873HP:0001873Thrombocytopenia0TET2 CL E G H5479025941ORPHA:75564Acquired idiopathic sideroblastic anemiaHP:0040283 - Occasional3
HP:0001873HP:0001873Thrombocytopenia0TET2 CL E G H5479025941ORPHA:98850Aggressive systemic mastocytosisHP:0040283 - Occasional3
HP:0001873HP:0001873Thrombocytopenia0TET2 CL E G H5479025941ORPHA:824Primary myelofibrosisHP:0040282 - Frequent3
HP:0001873HP:0001873Thrombocytopenia0TET2 CL E G H5479025941ORPHA:98826Refractory anemiaHP:0040284 - Very rare3
HP:0001873HP:0001873Thrombocytopenia0TET2 CL E G H5479025941ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040282 - Frequent3
HP:0001873HP:0001873Thrombocytopenia0TFRC CL E G H703711763OMIM:616740Immunodeficiency 461
HP:0001873HP:0001873Thrombocytopenia0THBD CL E G H705611784OMIM:612926Hemolytic uremic syndrome, atypical, susceptibility to, 6.60
HP:0001873HP:0001873Thrombocytopenia0THPO CL E G H706611795ORPHA:3319Congenital amegakaryocytic thrombocytopeniaHP:0040281 - Very frequent23
HP:0001873HP:0001873Thrombocytopenia0TINF2 CL E G H2627711824ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent60
HP:0001873HP:0001873Thrombocytopenia0TINF2 CL E G H2627711824OMIM:613990Dyskeratosis congenita, autosomal dominant 3.60
HP:0001873HP:0001873Thrombocytopenia0TINF2 CL E G H2627711824OMIM:127550Dyskeratosis congenita, autosomal dominant, 1.60
HP:0001873HP:0001873Thrombocytopenia0TINF2 CL E G H2627711824ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040281 - Very frequent60
HP:0001873HP:0001873Thrombocytopenia0TLR7 CL E G H5128415631OMIM:301080
HP:0001873HP:0001873Thrombocytopenia0TLR8 CL E G H5131115632OMIM:301078IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0001873HP:0001873Thrombocytopenia0TMEM165 CL E G H5585830760OMIM:614727Congenital disorder of glycosylation, type IIK.24
HP:0001873HP:0001873Thrombocytopenia0TNFAIP3 CL E G H712811896OMIM:616744AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL26
HP:0001873HP:0001873Thrombocytopenia0TNFRSF13B CL E G H2349518153ORPHA:1572Common variable immunodeficiency32
HP:0001873HP:0001873Thrombocytopenia0TNFRSF13C CL E G H11565017755ORPHA:1572Common variable immunodeficiency12
HP:0001873HP:0001873Thrombocytopenia0TNFSF11 CL E G H860011926OMIM:259710Osteopetrosis, autosomal recessive 2.44
HP:0001873HP:0001873Thrombocytopenia0TNFSF12 CL E G H874211927ORPHA:1572Common variable immunodeficiency1
HP:0001873HP:0001873Thrombocytopenia0TOM1 CL E G H1004311982ORPHA:391487Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndromeHP:0040283 - Occasional
HP:0001873HP:0001873Thrombocytopenia0TPP2 CL E G H717412016ORPHA:444463Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
HP:0001873HP:0001873Thrombocytopenia0TPP2 CL E G H717412016OMIM:619220IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0001873HP:0001873Thrombocytopenia0TREX1 CL E G H1127712269ORPHA:51Aicardi-Goutières syndrome56
HP:0001873HP:0001873Thrombocytopenia0TREX1 CL E G H1127712269OMIM:225750Aicardi-Goutieres syndrome 156
HP:0001873HP:0001873Thrombocytopenia0TREX1 CL E G H1127712269OMIM:152700Systemic lupus erythematosus.56
HP:0001873HP:0001873Thrombocytopenia0TSR2 CL E G H9012125455ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0001873HP:0001873Thrombocytopenia0TUBA8 CL E G H5180712410OMIM:61984021
HP:0001873HP:0001873Thrombocytopenia0TUBB1 CL E G H8102716257OMIM:613112Macrothrombocytopenia, autosomal dominant, tubb1-related3
HP:0001873HP:0001873Thrombocytopenia0TYMS CL E G H729812441ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent1
HP:0001873HP:0001873Thrombocytopenia0UBA1 CL E G H731712469OMIM:301054VEXAS SYNDROME; VEXAS35
HP:0001873HP:0001873Thrombocytopenia0UBE2T CL E G H2908925009ORPHA:84Fanconi anemiaHP:0040281 - Very frequent2
HP:0001873HP:0001873Thrombocytopenia0UBE2T CL E G H2908925009OMIM:616435Fanconi anemia, complementation group T.2
HP:0001873HP:0001873Thrombocytopenia0UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0001873HP:0001873Thrombocytopenia0UNC13D CL E G H20129423147ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040281 - Very frequent116
HP:0001873HP:0001873Thrombocytopenia0UQCRFS1 CL E G H738612587OMIM:618775MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0001873HP:0001873Thrombocytopenia0UROS CL E G H739012592ORPHA:79277Congenital erythropoietic porphyriaHP:0040283 - Occasional41
HP:0001873HP:0001873Thrombocytopenia0UROS CL E G H739012592OMIM:263700Porphyria, congenital erythropoietic.41
HP:0001873HP:0001873Thrombocytopenia0USB1 CL E G H7965025792ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent8
HP:0001873HP:0001873Thrombocytopenia0USP18 CL E G H1127412616OMIM:617397Pseudo-Torch syndrome 2.2
HP:0001873HP:0001873Thrombocytopenia0VPS33A CL E G H6508218179ORPHA:505248Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disordersHP:0040281 - Very frequent1
HP:0001873HP:0001873Thrombocytopenia0VPS33A CL E G H6508218179OMIM:617303Mucopolysaccharidosis-Plus syndrome1
HP:0001873HP:0001873Thrombocytopenia0VPS33B CL E G H2627612712OMIM:208085Arthrogryposis, renal dysfunction, and cholestasis 163
HP:0001873HP:0001873Thrombocytopenia0VPS45 CL E G H1131114579OMIM:615285Neutropenia, severe congenital, 5, autosomal recessive.7
HP:0001873HP:0001873Thrombocytopenia0VWF CL E G H745012726OMIM:613554Von willebrand disease, type 2.533
HP:0001873HP:0001873Thrombocytopenia0VWF CL E G H745012726OMIM:277480Von willebrand disease, type 3.533
HP:0001873HP:0001873Thrombocytopenia0WARS2 CL E G H1035212730OMIM:617710Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures2
HP:0001873HP:0001873Thrombocytopenia0WARS2 CL E G H1035212730ORPHA:572798WARS2-related combined oxidative phosphorylation defectHP:0040283 - Occasional2
HP:0001873HP:0001873Thrombocytopenia0WAS CL E G H745412731OMIM:313900Thrombocytopenia 165
HP:0001873HP:0001873Thrombocytopenia0WAS CL E G H745412731OMIM:301000Wiskott-Aldrich syndrome65
HP:0001873HP:0001873Thrombocytopenia0WAS CL E G H745412731ORPHA:906Wiskott-Aldrich syndromeHP:0040281 - Very frequent65
HP:0001873HP:0001873Thrombocytopenia0WDR1 CL E G H994812754OMIM:150550Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0001873HP:0001873Thrombocytopenia0WFS1 CL E G H746612762OMIM:222300Wolfram syndrome 1.389
HP:0001873HP:0001873Thrombocytopenia0WIPF1 CL E G H745612736ORPHA:906Wiskott-Aldrich syndromeHP:0040281 - Very frequent6
HP:0001873HP:0001873Thrombocytopenia0WIPF1 CL E G H745612736OMIM:614493WISKOTT-ALDRICH SYNDROME 2; WAS26
HP:0001873HP:0001873Thrombocytopenia0WRAP53 CL E G H5513525522ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent40
HP:0001873HP:0001873Thrombocytopenia0XIAP CL E G H331592OMIM:308240Lymphoproliferative syndrome, X-linked, 1.81
HP:0001873HP:0001873Thrombocytopenia0XPR1 CL E G H921312827ORPHA:1980Bilateral striopallidodentate calcinosisHP:0040281 - Very frequent4
HP:0001873HP:0001873Thrombocytopenia0XRCC2 CL E G H751612829ORPHA:84Fanconi anemiaHP:0040281 - Very frequent125
HP:0001873HP:0001873Thrombocytopenia0ZAP70 CL E G H753512858ORPHA:911Combined immunodeficiency due to ZAP70 deficiency46
HP:0001873HP:0001873Thrombocytopenia0ZBTB16 CL E G H770412930ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent1
HP:0001873HP:0001873Thrombocytopenia0ZNFX1 CL E G H5716929271OMIM:619644IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0001873HP:0011874Heparin-induced thrombocytopenia1 CL E G H
HP:0001873HP:0004813Post-transfusion thrombocytopenia1 CL E G H
HP:0001873HP:0001973Autoimmune thrombocytopenia1ACP5 CL E G H54124ORPHA:1855SpondyloenchondrodysplasiaHP:0040283 - Occasional16
HP:0001873HP:0001973Autoimmune thrombocytopenia1ACP5 CL E G H54124OMIM:607944Spondyloenchondrodysplasia with immune dysregulation16
HP:0001873HP:0001973Autoimmune thrombocytopenia1ADA CL E G H100186OMIM:102700Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency.75
HP:0001873HP:0004809Neonatal alloimmune thrombocytopenia1ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional116
HP:0001873HP:0001973Autoimmune thrombocytopenia1ARHGEF1 CL E G H9138681OMIM:618459Immunodeficiency 62.
HP:0001873HP:0004859Amegakaryocytic thrombocytopenia1BRAF CL E G H6731097OMIM:163950Noonan syndrome 1.276
HP:0001873HP:0001973Autoimmune thrombocytopenia1CASP10 CL E G H8431500ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040282 - Frequent87
HP:0001873HP:0001973Autoimmune thrombocytopenia1CASP10 CL E G H8431500OMIM:603909Autoimmune lymphoproliferative syndrome, type IIA.87
HP:0001873HP:0004809Neonatal alloimmune thrombocytopenia1CD109 CL E G H13522821685ORPHA:853Fetal and neonatal alloimmune thrombocytopeniaHP:0040280 - Obligate
HP:0001873HP:0001973Autoimmune thrombocytopenia1CD19 CL E G H9301633ORPHA:1572Common variable immunodeficiencyHP:0040281 - Very frequent38
HP:0001873HP:0001973Autoimmune thrombocytopenia1CD81 CL E G H9751701ORPHA:1572Common variable immunodeficiencyHP:0040281 - Very frequent1
HP:0001873HP:0001973Autoimmune thrombocytopenia1CD81 CL E G H9751701OMIM:613496Immunodeficiency, common variable, 61
HP:0001873HP:0001973Autoimmune thrombocytopenia1CIITA CL E G H42617067ORPHA:572Immunodeficiency by defective expression of MHC class IIHP:0040283 - Occasional118
HP:0001873HP:0001973Autoimmune thrombocytopenia1CR2 CL E G H13802336ORPHA:1572Common variable immunodeficiencyHP:0040281 - Very frequent10
HP:0001873HP:0001973Autoimmune thrombocytopenia1CTLA4 CL E G H14932505OMIM:616100AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS510
HP:0001873HP:0001973Autoimmune thrombocytopenia1CTNNBL1 CL E G H5625915879OMIM:619846
HP:0001873HP:0040185Macrothrombocytopenia1DIAPH1 CL E G H17292876OMIM:124900Deafness, autosomal dominant 1118
HP:0001873HP:0001973Autoimmune thrombocytopenia1FAS CL E G H35511920OMIM:601859Autoimmune lymphoproliferative syndrome.59
HP:0001873HP:0001973Autoimmune thrombocytopenia1FAS CL E G H35511920ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040282 - Frequent59
HP:0001873HP:0001973Autoimmune thrombocytopenia1FASLG CL E G H35611936ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040282 - Frequent37
HP:0001873HP:0001973Autoimmune thrombocytopenia1FASLG CL E G H35611936OMIM:601859Autoimmune lymphoproliferative syndrome.37
HP:0001873HP:0001973Autoimmune thrombocytopenia1FOXP3 CL E G H509436106ORPHA:37042Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndromeHP:0040283 - Occasional32
HP:0001873HP:0001973Autoimmune thrombocytopenia1FOXP3 CL E G H509436106OMIM:304790Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked32
HP:0001873HP:0004854Intermittent thrombocytopenia1G6PC3 CL E G H9257924861OMIM:612541Neutropenia, severe congenital, 4, autosomal recessive37
HP:0001873HP:0001973Autoimmune thrombocytopenia1GALC CL E G H25814115OMIM:245200Krabbe disease.160
HP:0001873HP:0040185Macrothrombocytopenia1GATA1 CL E G H26234170ORPHA:67044Thrombocytopenia with congenital dyserythropoietic anemiaHP:0040281 - Very frequent29
HP:0001873HP:0001905Congenital thrombocytopenia1GATA1 CL E G H26234170OMIM:300367Thrombocytopenia, X-linked, with or without dyserythropoietic anemia.29
HP:0001873HP:0040185Macrothrombocytopenia1GFI1B CL E G H83284238OMIM:187900Bleeding disorder, platelet-type, 173
HP:0001873HP:0040185Macrothrombocytopenia1GP1BA CL E G H28114439ORPHA:274Bernard-Soulier syndromeHP:0040281 - Very frequent23
HP:0001873HP:0040185Macrothrombocytopenia1GP1BA CL E G H28114439OMIM:231200BERNARD-SOULIER SYNDROME; BSS23
HP:0001873HP:0004809Neonatal alloimmune thrombocytopenia1GP1BA CL E G H28114439ORPHA:853Fetal and neonatal alloimmune thrombocytopeniaHP:0040280 - Obligate23
HP:0001873HP:0004854Intermittent thrombocytopenia1GP1BA CL E G H28114439OMIM:177820Pseudo-Von willebrand disease.23
HP:0001873HP:0040185Macrothrombocytopenia1GP1BB CL E G H28124440ORPHA:274Bernard-Soulier syndromeHP:0040281 - Very frequent8
HP:0001873HP:0040185Macrothrombocytopenia1GP1BB CL E G H28124440OMIM:231200BERNARD-SOULIER SYNDROME; BSS8
HP:0001873HP:0004809Neonatal alloimmune thrombocytopenia1GP1BB CL E G H28124440ORPHA:853Fetal and neonatal alloimmune thrombocytopeniaHP:0040280 - Obligate8
HP:0001873HP:0040185Macrothrombocytopenia1GP9 CL E G H28154444ORPHA:274Bernard-Soulier syndromeHP:0040281 - Very frequent21
HP:0001873HP:0040185Macrothrombocytopenia1GP9 CL E G H28154444OMIM:231200BERNARD-SOULIER SYNDROME; BSS21
HP:0001873HP:0004859Amegakaryocytic thrombocytopenia1HOXA11 CL E G H32075101ORPHA:71289Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndromeHP:0040282 - Frequent3
HP:0001873HP:0001905Congenital thrombocytopenia1HOXA11 CL E G H32075101OMIM:605432Radioulnar synostosis with amegakaryocytic thrombocytopenia.3
HP:0001873HP:0004859Amegakaryocytic thrombocytopenia1HOXA11 CL E G H32075101OMIM:605432Radioulnar synostosis with amegakaryocytic thrombocytopenia.3
HP:0001873HP:0001973Autoimmune thrombocytopenia1ICOS CL E G H298515351ORPHA:1572Common variable immunodeficiencyHP:0040281 - Very frequent32
HP:0001873HP:0004809Neonatal alloimmune thrombocytopenia1IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional28
HP:0001873HP:0001973Autoimmune thrombocytopenia1IL7R CL E G H35756024ORPHA:169154T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiencyHP:0040283 - Occasional94
HP:0001873HP:0001973Autoimmune thrombocytopenia1IRF2BP2 CL E G H35994821729ORPHA:1572Common variable immunodeficiencyHP:0040281 - Very frequent4
HP:0001873HP:0004809Neonatal alloimmune thrombocytopenia1ITGA2 CL E G H36736137ORPHA:853Fetal and neonatal alloimmune thrombocytopeniaHP:0040280 - Obligate119
HP:0001873HP:0040185Macrothrombocytopenia1ITGA2B CL E G H36746138OMIM:187800Bleeding disorder, platelet-type, 1669
HP:0001873HP:0004809Neonatal alloimmune thrombocytopenia1ITGA2B CL E G H36746138ORPHA:853Fetal and neonatal alloimmune thrombocytopeniaHP:0040280 - Obligate69
HP:0001873HP:0004809Neonatal alloimmune thrombocytopenia1ITGB3 CL E G H36906156ORPHA:853Fetal and neonatal alloimmune thrombocytopeniaHP:0040280 - Obligate80
HP:0001873HP:0001973Autoimmune thrombocytopenia1ITK CL E G H37026171OMIM:613011LYMPHOPROLIFERATIVE SYNDROME 1; LPFS151
HP:0001873HP:0001973Autoimmune thrombocytopenia1KDM6A CL E G H740312637OMIM:147920Kabuki syndrome 1.53
HP:0001873HP:0001973Autoimmune thrombocytopenia1KMT2D CL E G H80857133OMIM:147920Kabuki syndrome 1.660
HP:0001873HP:0001973Autoimmune thrombocytopenia1KRAS CL E G H38456407OMIM:614470RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic.196
HP:0001873HP:0001973Autoimmune thrombocytopenia1LAT CL E G H2704018874OMIM:617514Immunodeficiency 522
HP:0001873HP:0001973Autoimmune thrombocytopenia1LRBA CL E G H9871742OMIM:614700IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID845
HP:0001873HP:0004809Neonatal alloimmune thrombocytopenia1LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional
HP:0001873HP:0001973Autoimmune thrombocytopenia1MAGT1 CL E G H8406128880OMIM:300853IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN17
HP:0001873HP:0004859Amegakaryocytic thrombocytopenia1MAP2K1 CL E G H56046840OMIM:163950Noonan syndrome 1.134
HP:0001873HP:0004859Amegakaryocytic thrombocytopenia1MECOM CL E G H21223498ORPHA:71289Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndromeHP:0040282 - Frequent4
HP:0001873HP:0001905Congenital thrombocytopenia1MECOM CL E G H21223498OMIM:616738RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT24
HP:0001873HP:0004859Amegakaryocytic thrombocytopenia1MPL CL E G H43527217OMIM:604498Amegakaryocytic thrombocytopenia, congenital.97
HP:0001873HP:0001973Autoimmune thrombocytopenia1MS4A1 CL E G H9317315ORPHA:1572Common variable immunodeficiencyHP:0040281 - Very frequent1
HP:0001873HP:0040185Macrothrombocytopenia1MYH9 CL E G H46277579OMIM:155100Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss297
HP:0001873HP:0001905Congenital thrombocytopenia1MYH9 CL E G H46277579ORPHA:182050MYH9-related diseaseHP:0040281 - Very frequent297
HP:0001873HP:0001973Autoimmune thrombocytopenia1NFKB1 CL E G H47907794ORPHA:1572Common variable immunodeficiencyHP:0040281 - Very frequent7
HP:0001873HP:0001973Autoimmune thrombocytopenia1NFKB2 CL E G H47917795ORPHA:1572Common variable immunodeficiencyHP:0040281 - Very frequent11
HP:0001873HP:0001973Autoimmune thrombocytopenia1NFKB2 CL E G H47917795ORPHA:293978Deficiency in anterior pituitary function-variable immunodeficiency syndromeHP:0040283 - Occasional11
HP:0001873HP:0001973Autoimmune thrombocytopenia1NRAS CL E G H48937989OMIM:614470RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic.102
HP:0001873HP:0001973Autoimmune thrombocytopenia1PNP CL E G H48607892OMIM:613179Immunodeficiency due to purine nucleoside phosphorylase deficiency.52
HP:0001873HP:0001973Autoimmune thrombocytopenia1PNP CL E G H48607892ORPHA:760Purine nucleoside phosphorylase deficiencyHP:0040284 - Very rare52
HP:0001873HP:0040185Macrothrombocytopenia1PRKACG CL E G H55689382OMIM:616176Bleeding disorder, platelet-type, 19.2
HP:0001873HP:0001973Autoimmune thrombocytopenia1PRKCD CL E G H55809399ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040282 - Frequent10
HP:0001873HP:0001973Autoimmune thrombocytopenia1PRKCD CL E G H55809399OMIM:615559AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS310
HP:0001873HP:0001973Autoimmune thrombocytopenia1PRKCD CL E G H55809399ORPHA:1572Common variable immunodeficiencyHP:0040281 - Very frequent10
HP:0001873HP:0004859Amegakaryocytic thrombocytopenia1PTPN11 CL E G H57819644OMIM:163950Noonan syndrome 1.291
HP:0001873HP:0001973Autoimmune thrombocytopenia1RASGRP1 CL E G H101259878ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040282 - Frequent
HP:0001873HP:0001973Autoimmune thrombocytopenia1RASGRP1 CL E G H101259878OMIM:618534IMMUNODEFICIENCY 64; IMD64
HP:0001873HP:0001973Autoimmune thrombocytopenia1RFX5 CL E G H59939986ORPHA:572Immunodeficiency by defective expression of MHC class IIHP:0040283 - Occasional38
HP:0001873HP:0001973Autoimmune thrombocytopenia1RFXANK CL E G H86259987ORPHA:572Immunodeficiency by defective expression of MHC class IIHP:0040283 - Occasional26
HP:0001873HP:0001973Autoimmune thrombocytopenia1RFXAP CL E G H59949988ORPHA:572Immunodeficiency by defective expression of MHC class IIHP:0040283 - Occasional34
HP:0001873HP:0004809Neonatal alloimmune thrombocytopenia1RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional33
HP:0001873HP:0004809Neonatal alloimmune thrombocytopenia1RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional34
HP:0001873HP:0004809Neonatal alloimmune thrombocytopenia1RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional60
HP:0001873HP:0004809Neonatal alloimmune thrombocytopenia1RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional
HP:0001873HP:0004809Neonatal alloimmune thrombocytopenia1SAMHD1 CL E G H2593915925ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional55
HP:0001873HP:0001973Autoimmune thrombocytopenia1SASH3 CL E G H5444015975OMIM:3010821
HP:0001873HP:0040185Macrothrombocytopenia1SLC35A1 CL E G H1055911021OMIM:603585Congenital disorder of glycosylation, type IIf.24
HP:0001873HP:0001973Autoimmune thrombocytopenia1SMPD1 CL E G H660911120ORPHA:77293Niemann-Pick disease type BHP:0040284 - Very rare164
HP:0001873HP:0001973Autoimmune thrombocytopenia1SOCS1 CL E G H865119383OMIM:619375AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD6
HP:0001873HP:0001973Autoimmune thrombocytopenia1STAT1 CL E G H677211362ORPHA:391487Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndromeHP:0040283 - Occasional89
HP:0001873HP:0001905Congenital thrombocytopenia1STAT2 CL E G H677311363OMIM:618886PSEUDO-TORCH SYNDROME 3; PTORCH39
HP:0001873HP:0001973Autoimmune thrombocytopenia1STAT3 CL E G H677411364OMIM:615952AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1110
HP:0001873HP:0004854Intermittent thrombocytopenia1TFRC CL E G H703711763OMIM:616740Immunodeficiency 461
HP:0001873HP:0001973Autoimmune thrombocytopenia1TLR7 CL E G H5128415631OMIM:301080
HP:0001873HP:0001973Autoimmune thrombocytopenia1TNFRSF13B CL E G H2349518153ORPHA:1572Common variable immunodeficiencyHP:0040281 - Very frequent32
HP:0001873HP:0001973Autoimmune thrombocytopenia1TNFRSF13C CL E G H11565017755ORPHA:1572Common variable immunodeficiencyHP:0040281 - Very frequent12
HP:0001873HP:0001973Autoimmune thrombocytopenia1TNFSF12 CL E G H874211927ORPHA:1572Common variable immunodeficiencyHP:0040281 - Very frequent1
HP:0001873HP:0001973Autoimmune thrombocytopenia1TOM1 CL E G H1004311982ORPHA:391487Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndromeHP:0040283 - Occasional
HP:0001873HP:0001973Autoimmune thrombocytopenia1TPP2 CL E G H717412016ORPHA:444463Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndromeHP:0040280 - Obligate
HP:0001873HP:0001973Autoimmune thrombocytopenia1TPP2 CL E G H717412016OMIM:619220IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0001873HP:0004809Neonatal alloimmune thrombocytopenia1TREX1 CL E G H1127712269ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional56
HP:0001873HP:0040185Macrothrombocytopenia1TUBA8 CL E G H5180712410OMIM:61984021
HP:0001873HP:0040185Macrothrombocytopenia1TUBB1 CL E G H8102716257OMIM:613112Macrothrombocytopenia, autosomal dominant, tubb1-related3
HP:0001873HP:0004854Intermittent thrombocytopenia1WAS CL E G H745412731OMIM:313900Thrombocytopenia 1.65
HP:0001873HP:0001905Congenital thrombocytopenia1WAS CL E G H745412731OMIM:313900Thrombocytopenia 1.65
HP:0001873HP:0004854Intermittent thrombocytopenia1WDR1 CL E G H994812754OMIM:150550Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0001873HP:0001973Autoimmune thrombocytopenia1ZAP70 CL E G H753512858ORPHA:911Combined immunodeficiency due to ZAP70 deficiencyHP:0040284 - Very rare46


Genes (373) :ABCA1 ABCD4 ABCG8 ABL1 ACAD9 ACD ACP5 ACTN1 ADA ADA2 ADAMTS13 ADAR ADH5 AGK ALG12 ALG8 AMN ANKRD11 ANKRD26 AP3B1 APOE ARHGAP31 ARHGEF1 ARPC1B ARVCF ASAH1 ASXL1 ATP6AP1 ATP7B ATRX BCOR BCR BLOC1S6 BRAF BRCA1 BRCA2 BRIP1 BTK BTNL2 C3 CA2 CALR CASP10 CBL CD109 CD19 CD36 CD40LG CD46 CD81 CDC40 CDC42 CFB CFH CFHR1 CFHR3 CFI CIITA CLCN7 CLPB COG1 COG4 COG6 COL4A5 COMT CORIN CR2 CTC1 CTLA4 CTNNBL1 CUBN CYCS DCLRE1C DEF6 DGKE DGUOK DHFR DIAPH1 DKC1 DLL4 DNAJC21 DNASE1 DOCK2 DOCK6 DZIP1L EFL1 ELANE EOGT ERBB3 ERCC4 ERCC6L2 ESCO2 ETV6 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FARS2 FAS FASLG FCGR2A FCGR2B FCGR2C FIP1L1 FLI1 FLNA FLT1 FOCAD FOXP3 FYB1 G6PC3 GALC GATA1 GATA2 GBA1 GFI1B GIMAP5 GNA14 GP1BA GP1BB GP9 GUCY1A1 HEATR3 HELLPAR HIRA HLA-B HLA-DRB1 HLCS HOXA11 HSCB ICOS IFIH1 IFNG IKZF1 IKZF5 IL6ST IL7R IRAK1 IRF2BP2 IRF8 ITGA2 ITGA2B ITGB3 ITK IVD JAK2 JAM2 JMJD1C KDM6A KIF15 KIT KMT2D KRAS LARS2 LAT LBR LIG4 LIPA LMBRD1 LRBA LSM11 LYST MAD2L2 MADD MAGT1 MAP2K1 MECOM MED12 MMAA MMAB MMACHC MMUT MOGS MPIG6B MPL MS4A1 MTOR MVK MYH9 MYORG MYSM1 NAA10 NABP1 NBEAL2 NBN NFKB1 NFKB2 NHEJ1 NHP2 NIPBL NLRC4 NOP10 NOS3 NOTCH1 NPM1 NRAS NSUN2 NUMA1 OCLN OCRL OSTM1 OTUD5 PALB2 PARN PCCA PCCB PDGFB PDGFRB PEPD PHGDH PIGA PIK3CG PKHD1 PLAU PML PNP POLRMT POMP PPIL1 PRDX1 PRF1 PRIM1 PRKACG PRKAR1A PRKCD PSAP PSMB4 PSMB8 PSMB9 PTPN11 PTPN22 RAD51 RAD51C RAG1 RAG2 RARA RASGRP1 RBM8A RBPJ RFWD3 RFX5 RFXANK RFXAP RNASEH2A RNASEH2B RNASEH2C RNU7-1 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RRAS2 RREB1 RTEL1 RUNX1 RYR1 SALL4 SAMD9 SAMD9L SAMHD1 SARS2 SASH3 SBDS SC5D SCARB2 SEC24C SF3B1 SH2D1A SLC19A2 SLC20A2 SLC35A1 SLC37A4 SLC39A7 SLC46A1 SLC7A7 SLFN14 SLX4 SMARCAL1 SMARCD2 SMPD1 SNX10 SOCS1 SOS1 SP110 SPATA5 SPP1 SRC SRP54 SRSF2 STAT1 STAT2 STAT3 STAT4 STAT5B STIM1 STOX1 STT3B STX11 STXBP2 TALDO1 TBL1XR1 TBX1 TBXAS1 TCIRG1 TCN2 TERC TERT TET2 TFRC THBD THPO TINF2 TLR7 TLR8 TMEM165 TNFAIP3 TNFRSF13B TNFRSF13C TNFSF11 TNFSF12 TOM1 TPP2 TREX1 TSR2 TUBA8 TUBB1 TYMS UBA1 UBE2T UFD1 UNC13D UQCRFS1 UROS USB1 USP18 VPS33A VPS33B VPS45 VWF WARS2 WAS WDR1 WFS1 WIPF1 WRAP53 XIAP XPR1 XRCC2 ZAP70 ZBTB16 ZNFX1

Diseases (324) :ORPHA:31150 OMIM:614857 OMIM:210250 ORPHA:521 ORPHA:99901 OMIM:611126 ORPHA:3322 ORPHA:1855 OMIM:607944 OMIM:615193 OMIM:102700 ORPHA:124 OMIM:274150 ORPHA:51 OMIM:615010 OMIM:619151 OMIM:212350 ORPHA:79324 ORPHA:79325 OMIM:608104 ORPHA:35858 ORPHA:261250 OMIM:188000 OMIM:608233 OMIM:269600 ORPHA:158029 ORPHA:974 OMIM:618459 OMIM:617718 ORPHA:567 ORPHA:333 ORPHA:98850 ORPHA:98849 OMIM:300972 OMIM:277900 ORPHA:905 ORPHA:231401 ORPHA:520 OMIM:614171 OMIM:163950 ORPHA:84 ORPHA:47 ORPHA:797 OMIM:612925 ORPHA:2785 ORPHA:824 ORPHA:3261 OMIM:603909 ORPHA:853 ORPHA:1572 OMIM:608404 OMIM:308230 ORPHA:244242 OMIM:612922 OMIM:613496 OMIM:619302 ORPHA:487796 OMIM:616737 OMIM:612924 OMIM:235400 OMIM:612923 ORPHA:572 OMIM:611490 OMIM:616271 OMIM:611209 ORPHA:263501 OMIM:614576 OMIM:301050 ORPHA:275555 OMIM:612199 ORPHA:1775 OMIM:616100 OMIM:152700 OMIM:619846 OMIM:612004 OMIM:603554 OMIM:619573 OMIM:615008 OMIM:251880 OMIM:613839 OMIM:124900 OMIM:305000 ORPHA:811 OMIM:260400 OMIM:616433 ORPHA:731 OMIM:617941 ORPHA:2686 OMIM:133180 OMIM:615715 ORPHA:3103 OMIM:616216 OMIM:227650 OMIM:300514 OMIM:227645 OMIM:227646 OMIM:600901 OMIM:603467 OMIM:614082 OMIM:614946 OMIM:601859 ORPHA:3002 OMIM:617443 ORPHA:2308 OMIM:300048 OMIM:619991 ORPHA:37042 OMIM:304790 OMIM:273900 OMIM:612541 OMIM:245200 OMIM:300835 ORPHA:231393 ORPHA:79277 OMIM:314050 ORPHA:67044 OMIM:300367 ORPHA:3226 ORPHA:85212 ORPHA:77259 ORPHA:77261 OMIM:608013 OMIM:230800 OMIM:230900 OMIM:231000 ORPHA:2072 OMIM:187900 OMIM:619463 ORPHA:1063 ORPHA:274 OMIM:231200 OMIM:177820 ORPHA:401945 OMIM:620072 ORPHA:36426 ORPHA:79242 OMIM:253270 ORPHA:71289 OMIM:605432 OMIM:619523 OMIM:615846 ORPHA:88 OMIM:619130 OMIM:619751 ORPHA:169154 ORPHA:93552 OMIM:226990 OMIM:187800 OMIM:619271 OMIM:613011 OMIM:243500 ORPHA:1980 OMIM:147920 OMIM:619981 ORPHA:261323 OMIM:614470 OMIM:617021 OMIM:617514 OMIM:169400 ORPHA:235 OMIM:606593 OMIM:278000 OMIM:277380 OMIM:614700 ORPHA:167 OMIM:214500 OMIM:617243 OMIM:619004 OMIM:619005 OMIM:300853 OMIM:616738 OMIM:301068 OMIM:251100 OMIM:251110 ORPHA:79282 OMIM:277400 OMIM:251000 ORPHA:79312 ORPHA:289916 ORPHA:79330 OMIM:617441 OMIM:604498 ORPHA:3319 OMIM:616638 OMIM:610377 OMIM:155100 ORPHA:182050 OMIM:618116 ORPHA:508542 OMIM:300855 ORPHA:721 OMIM:139090 OMIM:251260 ORPHA:647 OMIM:616576 ORPHA:293978 ORPHA:169079 OMIM:224230 OMIM:613987 OMIM:122470 OMIM:616050 OMIM:189800 OMIM:251290 ORPHA:534 OMIM:259720 OMIM:301056 OMIM:606054 OMIM:170100 OMIM:601815 OMIM:301072 ORPHA:447 OMIM:619802 OMIM:601709 OMIM:613179 ORPHA:760 OMIM:619743 OMIM:618048 OMIM:619301 ORPHA:540 OMIM:603553 OMIM:620005 OMIM:616176 OMIM:615559 OMIM:610539 OMIM:617591 OMIM:256040 ORPHA:331206 OMIM:618534 ORPHA:3320 OMIM:274000 OMIM:610333 OMIM:610329 OMIM:105650 OMIM:618624 OMIM:601399 ORPHA:466650 OMIM:147750 ORPHA:2307 OMIM:617053 OMIM:619041 OMIM:159550 OMIM:252270 OMIM:612952 OMIM:613845 OMIM:301082 ORPHA:46059 OMIM:254900 ORPHA:75564 OMIM:308240 ORPHA:49827 OMIM:249270 OMIM:603585 ORPHA:238459 OMIM:619525 OMIM:619693 OMIM:229050 ORPHA:90045 ORPHA:470 OMIM:222700 OMIM:616913 OMIM:242900 ORPHA:1830 OMIM:617475 ORPHA:77293 OMIM:607616 OMIM:615085 OMIM:619375 OMIM:610733 ORPHA:79124 OMIM:616577 ORPHA:457351 OMIM:616937 ORPHA:391487 OMIM:618886 OMIM:615952 OMIM:612783 OMIM:185070 OMIM:615597 ORPHA:370924 OMIM:603552 OMIM:613101 ORPHA:101028 OMIM:606003 OMIM:188400 OMIM:231095 OMIM:259700 ORPHA:859 OMIM:127550 OMIM:613989 ORPHA:98826 OMIM:616740 OMIM:612926 OMIM:613990 OMIM:301080 OMIM:301078 OMIM:614727 OMIM:616744 OMIM:259710 ORPHA:444463 OMIM:619220 OMIM:225750 OMIM:619840 OMIM:613112 OMIM:301054 OMIM:616435 OMIM:618775 OMIM:263700 OMIM:617397 ORPHA:505248 OMIM:617303 OMIM:208085 OMIM:615285 OMIM:613554 OMIM:277480 OMIM:617710 ORPHA:572798 OMIM:313900 OMIM:301000 ORPHA:906 OMIM:150550 OMIM:222300 OMIM:614493 ORPHA:911 OMIM:619644
 

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