Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of blood and blood-forming tissues (HP:0001871)

Parent Node:
Abnormality of thrombocytes (HP:0001872)

..Starting node
..Abnormal platelet count (HP:0011873)

Term ID:

11873

Name:

Abnormal platelet count

Synonym:

Definition:

Abnormal number of platelets per volume of blood. In a healthy adult, a normal platelet count is between 150,000 and 450,000 per microliter of blood.

Comments:

Reference:

HP:0011873

Genes and Diseases:

Child Nodes:

........

Thrombocytopenia (HP:0001873)

................... HP:0001905 Congenital thrombocytopenia
................... HP:0001973 Autoimmune thrombocytopenia
................... HP:0004809 Neonatal alloimmune thrombocytopenia
................... HP:0004813 Post-transfusion thrombocytopenia
................... HP:0004854 Intermittent thrombocytopenia
................... HP:0004859 Amegakaryocytic thrombocytopenia
................... HP:0011874 Heparin-induced thrombocytopenia
................... HP:0040185 Macrothrombocytopenia

........

Thrombocytosis (HP:0001894)

Sister Nodes:

Abnormal platelet function (HP:0011869)

Abnormal platelet morphology (HP:0011875)

Abnormal platelet volume (HP:0011876)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011873	HP:0011873	Abnormal platelet count	0	ABCA1 CL E G H	19	29	ORPHA:31150	Tangier disease			191
HP:0011873	HP:0011873	Abnormal platelet count	0	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type			53
HP:0011873	HP:0011873	Abnormal platelet count	0	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1			76
HP:0011873	HP:0011873	Abnormal platelet count	0	ABL1 CL E G H	25	76	ORPHA:521	Chronic myeloid leukemia			51
HP:0011873	HP:0011873	Abnormal platelet count	0	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency			98
HP:0011873	HP:0011873	Abnormal platelet count	0	ACAD9 CL E G H	28976	21497	OMIM:611126	Mitochondrial complex I deficiency due to acad9 deficiency			98
HP:0011873	HP:0011873	Abnormal platelet count	0	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency			91
HP:0011873	HP:0011873	Abnormal platelet count	0	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			11
HP:0011873	HP:0011873	Abnormal platelet count	0	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia			16
HP:0011873	HP:0011873	Abnormal platelet count	0	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation			16
HP:0011873	HP:0011873	Abnormal platelet count	0	ACTN1 CL E G H	87	163	OMIM:615193	BLEEDING DISORDER, PLATELET-TYPE, 15; BDPLT15			9
HP:0011873	HP:0011873	Abnormal platelet count	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:0011873	HP:0011873	Abnormal platelet count	0	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia			22
HP:0011873	HP:0011873	Abnormal platelet count	0	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome			22
HP:0011873	HP:0011873	Abnormal platelet count	0	ADAMTS13 CL E G H	11093	1366	OMIM:274150	Thrombotic thrombocytopenic purpura, hereditary			129
HP:0011873	HP:0011873	Abnormal platelet count	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome			116
HP:0011873	HP:0011873	Abnormal platelet count	0	ADAR CL E G H	103	225	OMIM:615010	Aicardi-Goutieres syndrome 6			116
HP:0011873	HP:0011873	Abnormal platelet count	0	ADH5 CL E G H	128	253	OMIM:619151	AMED SYNDROME, DIGENIC; AMEDS
HP:0011873	HP:0011873	Abnormal platelet count	0	AGK CL E G H	55750	21869	OMIM:212350	Sengers syndrome			82
HP:0011873	HP:0011873	Abnormal platelet count	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0011873	HP:0011873	Abnormal platelet count	0	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG			46
HP:0011873	HP:0011873	Abnormal platelet count	0	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih			46
HP:0011873	HP:0011873	Abnormal platelet count	0	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome			25
HP:0011873	HP:0011873	Abnormal platelet count	0	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome			102
HP:0011873	HP:0011873	Abnormal platelet count	0	ANKRD26 CL E G H	22852	29186	OMIM:188000	THROMBOCYTOPENIA 2; THC2			106
HP:0011873	HP:0011873	Abnormal platelet count	0	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0011873	HP:0011873	Abnormal platelet count	0	APOE CL E G H	348	613	OMIM:269600	Sea-Blue histiocyte disease			39
HP:0011873	HP:0011873	Abnormal platelet count	0	APOE CL E G H	348	613	ORPHA:158029	Sea-blue histiocytosis			39
HP:0011873	HP:0011873	Abnormal platelet count	0	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome			147
HP:0011873	HP:0011873	Abnormal platelet count	0	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0011873	HP:0011873	Abnormal platelet count	0	ARPC1B CL E G H	10095	704	OMIM:617718	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
HP:0011873	HP:0011873	Abnormal platelet count	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0011873	HP:0011873	Abnormal platelet count	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease			78
HP:0011873	HP:0011873	Abnormal platelet count	0	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis			145
HP:0011873	HP:0011873	Abnormal platelet count	0	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			145
HP:0011873	HP:0011873	Abnormal platelet count	0	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47			5
HP:0011873	HP:0011873	Abnormal platelet count	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome			5
HP:0011873	HP:0011873	Abnormal platelet count	0	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease			315
HP:0011873	HP:0011873	Abnormal platelet count	0	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease			315
HP:0011873	HP:0011873	Abnormal platelet count	0	ATRX CL E G H	546	886	ORPHA:231401	Alpha-thalassemia-myelodysplastic syndrome			169
HP:0011873	HP:0011873	Abnormal platelet count	0	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia			101
HP:0011873	HP:0011873	Abnormal platelet count	0	BCR CL E G H	613	1014	ORPHA:521	Chronic myeloid leukemia			5
HP:0011873	HP:0011873	Abnormal platelet count	0	BLOC1S6 CL E G H	26258	8549	OMIM:614171	Hermansky-Pudlak syndrome 9			35
HP:0011873	HP:0011873	Abnormal platelet count	0	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0011873	HP:0011873	Abnormal platelet count	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia			5769
HP:0011873	HP:0011873	Abnormal platelet count	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia			7642
HP:0011873	HP:0011873	Abnormal platelet count	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia			1086
HP:0011873	HP:0011873	Abnormal platelet count	0	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia			109
HP:0011873	HP:0011873	Abnormal platelet count	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis			1
HP:0011873	HP:0011873	Abnormal platelet count	0	C3 CL E G H	718	1318	OMIM:612925	Hemolytic uremic syndrome, atypical, susceptibility to, 5			92
HP:0011873	HP:0011873	Abnormal platelet count	0	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis			29
HP:0011873	HP:0011873	Abnormal platelet count	0	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis			1
HP:0011873	HP:0011873	Abnormal platelet count	0	CALR CL E G H	811	1455	OMIM:187950	THROMBOCYTHEMIA 1; THCYT1			1
HP:0011873	HP:0011873	Abnormal platelet count	0	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome			87
HP:0011873	HP:0011873	Abnormal platelet count	0	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA			87
HP:0011873	HP:0011873	Abnormal platelet count	0	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis			317
HP:0011873	HP:0011873	Abnormal platelet count	0	CD109 CL E G H	135228	21685	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia
HP:0011873	HP:0011873	Abnormal platelet count	0	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency			38
HP:0011873	HP:0011873	Abnormal platelet count	0	CD36 CL E G H	948	1663	OMIM:608404	Platelet glycoprotein IV deficiency			53
HP:0011873	HP:0011873	Abnormal platelet count	0	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM			33
HP:0011873	HP:0011873	Abnormal platelet count	0	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome			39
HP:0011873	HP:0011873	Abnormal platelet count	0	CD46 CL E G H	4179	6953	OMIM:612922	Hemolytic uremic syndrome, atypical, susceptibility to, 2			39
HP:0011873	HP:0011873	Abnormal platelet count	0	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy			9
HP:0011873	HP:0011873	Abnormal platelet count	0	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency			1
HP:0011873	HP:0011873	Abnormal platelet count	0	CD81 CL E G H	975	1701	OMIM:613496	Immunodeficiency, common variable, 6			1
HP:0011873	HP:0011873	Abnormal platelet count	0	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0011873	HP:0011873	Abnormal platelet count	0	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome			6
HP:0011873	HP:0011873	Abnormal platelet count	0	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome			6
HP:0011873	HP:0011873	Abnormal platelet count	0	CFB CL E G H	629	1037	OMIM:612924	Hemolytic uremic syndrome, atypical, susceptibility to, 4			30
HP:0011873	HP:0011873	Abnormal platelet count	0	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome			86
HP:0011873	HP:0011873	Abnormal platelet count	0	CFH CL E G H	3075	4883	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1			86
HP:0011873	HP:0011873	Abnormal platelet count	0	CFHR1 CL E G H	3078	4888	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0011873	HP:0011873	Abnormal platelet count	0	CFHR3 CL E G H	10878	16980	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0011873	HP:0011873	Abnormal platelet count	0	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome			57
HP:0011873	HP:0011873	Abnormal platelet count	0	CFI CL E G H	3426	5394	OMIM:612923	Hemolytic uremic syndrome, atypical, susceptibility to, 3			57
HP:0011873	HP:0011873	Abnormal platelet count	0	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II			118
HP:0011873	HP:0011873	Abnormal platelet count	0	CLCN7 CL E G H	1186	2025	OMIM:611490	Osteopetrosis, autosomal recessive 4			102
HP:0011873	HP:0011873	Abnormal platelet count	0	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0011873	HP:0011873	Abnormal platelet count	0	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg			52
HP:0011873	HP:0011873	Abnormal platelet count	0	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG			67
HP:0011873	HP:0011873	Abnormal platelet count	0	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L			71
HP:0011873	HP:0011873	Abnormal platelet count	0	COL4A5 CL E G H	1287	2207	OMIM:301050	Alport syndrome, X-linked			678
HP:0011873	HP:0011873	Abnormal platelet count	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0011873	HP:0011873	Abnormal platelet count	0	CORIN CL E G H	10699	19012	ORPHA:275555	Preeclampsia			5
HP:0011873	HP:0011873	Abnormal platelet count	0	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency			10
HP:0011873	HP:0011873	Abnormal platelet count	0	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts			160
HP:0011873	HP:0011873	Abnormal platelet count	0	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita			160
HP:0011873	HP:0011873	Abnormal platelet count	0	CTLA4 CL E G H	1493	2505	OMIM:616100	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5			10
HP:0011873	HP:0011873	Abnormal platelet count	0	CTLA4 CL E G H	1493	2505	OMIM:152700	Systemic lupus erythematosus			10
HP:0011873	HP:0011873	Abnormal platelet count	0	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0011873	HP:0011873	Abnormal platelet count	0	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome			273
HP:0011873	HP:0011873	Abnormal platelet count	0	CYCS CL E G H	54205	19986	OMIM:612004	Thrombocytopenia 4			82
HP:0011873	HP:0011873	Abnormal platelet count	0	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome			94
HP:0011873	HP:0011873	Abnormal platelet count	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0011873	HP:0011873	Abnormal platelet count	0	DGKE CL E G H	8526	2852	OMIM:615008	Nephrotic syndrome, type 7			17
HP:0011873	HP:0011873	Abnormal platelet count	0	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)			57
HP:0011873	HP:0011873	Abnormal platelet count	0	DHFR CL E G H	1719	2861	OMIM:613839	Megaloblastic anemia due to dihydrofolate reductase deficiency			7
HP:0011873	HP:0011873	Abnormal platelet count	0	DIAPH1 CL E G H	1729	2876	OMIM:124900	Deafness, autosomal dominant 1			118
HP:0011873	HP:0011873	Abnormal platelet count	0	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita			65
HP:0011873	HP:0011873	Abnormal platelet count	0	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked			65
HP:0011873	HP:0011873	Abnormal platelet count	0	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			65
HP:0011873	HP:0011873	Abnormal platelet count	0	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome			9
HP:0011873	HP:0011873	Abnormal platelet count	0	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome			5
HP:0011873	HP:0011873	Abnormal platelet count	0	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1			5
HP:0011873	HP:0011873	Abnormal platelet count	0	DNASE1 CL E G H	1773	2956	OMIM:152700	Systemic lupus erythematosus			3
HP:0011873	HP:0011873	Abnormal platelet count	0	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40			6
HP:0011873	HP:0011873	Abnormal platelet count	0	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome			18
HP:0011873	HP:0011873	Abnormal platelet count	0	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease			4
HP:0011873	HP:0011873	Abnormal platelet count	0	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome			1
HP:0011873	HP:0011873	Abnormal platelet count	0	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2			1
HP:0011873	HP:0011873	Abnormal platelet count	0	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia			79
HP:0011873	HP:0011873	Abnormal platelet count	0	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant			79
HP:0011873	HP:0011873	Abnormal platelet count	0	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2			1
HP:0011873	HP:0011873	Abnormal platelet count	0	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome			4
HP:0011873	HP:0011873	Abnormal platelet count	0	ERBB3 CL E G H	2065	3431	OMIM:133180	Erythroleukemia, familial, susceptibility to			12
HP:0011873	HP:0011873	Abnormal platelet count	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia			158
HP:0011873	HP:0011873	Abnormal platelet count	0	ERCC6L2 CL E G H	375748	26922	OMIM:615715	Bone marrow failure syndrome 2			4
HP:0011873	HP:0011873	Abnormal platelet count	0	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome			92
HP:0011873	HP:0011873	Abnormal platelet count	0	ETV6 CL E G H	2120	3495	OMIM:616216	Thrombocytopenia 5			13
HP:0011873	HP:0011873	Abnormal platelet count	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia			340
HP:0011873	HP:0011873	Abnormal platelet count	0	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia			340
HP:0011873	HP:0011873	Abnormal platelet count	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia			58
HP:0011873	HP:0011873	Abnormal platelet count	0	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB			58
HP:0011873	HP:0011873	Abnormal platelet count	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia			410
HP:0011873	HP:0011873	Abnormal platelet count	0	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C			410
HP:0011873	HP:0011873	Abnormal platelet count	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia			147
HP:0011873	HP:0011873	Abnormal platelet count	0	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2			147
HP:0011873	HP:0011873	Abnormal platelet count	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia			73
HP:0011873	HP:0011873	Abnormal platelet count	0	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E			73
HP:0011873	HP:0011873	Abnormal platelet count	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia			87
HP:0011873	HP:0011873	Abnormal platelet count	0	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF			87
HP:0011873	HP:0011873	Abnormal platelet count	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia			73
HP:0011873	HP:0011873	Abnormal platelet count	0	FANCG CL E G H	2189	3588	OMIM:614082	FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG			73
HP:0011873	HP:0011873	Abnormal platelet count	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia			157
HP:0011873	HP:0011873	Abnormal platelet count	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia			53
HP:0011873	HP:0011873	Abnormal platelet count	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia			107
HP:0011873	HP:0011873	Abnormal platelet count	0	FARS2 CL E G H	10667	21062	OMIM:614946	Combined oxidative phosphorylation deficiency 14			36
HP:0011873	HP:0011873	Abnormal platelet count	0	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome			59
HP:0011873	HP:0011873	Abnormal platelet count	0	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome			59
HP:0011873	HP:0011873	Abnormal platelet count	0	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome			37
HP:0011873	HP:0011873	Abnormal platelet count	0	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome			37
HP:0011873	HP:0011873	Abnormal platelet count	0	FCGR2A CL E G H	2212	3616	OMIM:152700	Systemic lupus erythematosus			6
HP:0011873	HP:0011873	Abnormal platelet count	0	FCGR2B CL E G H	2213	3618	OMIM:152700	Systemic lupus erythematosus			2
HP:0011873	HP:0011873	Abnormal platelet count	0	FCGR2C CL E G H	9103	15626	ORPHA:3002	Immune thrombocytopenia
HP:0011873	HP:0011873	Abnormal platelet count	0	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia			4
HP:0011873	HP:0011873	Abnormal platelet count	0	FLI1 CL E G H	2313	3749	OMIM:617443	Bleeding disorder, platelet-type, 21			8
HP:0011873	HP:0011873	Abnormal platelet count	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome			8
HP:0011873	HP:0011873	Abnormal platelet count	0	FLNA CL E G H	2316	3754	OMIM:300048	Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked			493
HP:0011873	HP:0011873	Abnormal platelet count	0	FLT1 CL E G H	2321	3763	ORPHA:275555	Preeclampsia			11
HP:0011873	HP:0011873	Abnormal platelet count	0	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0011873	HP:0011873	Abnormal platelet count	0	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome			32
HP:0011873	HP:0011873	Abnormal platelet count	0	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked			32
HP:0011873	HP:0011873	Abnormal platelet count	0	FYB1 CL E G H	2533	4036	OMIM:273900	THROMBOCYTOPENIA 3; THC3			4
HP:0011873	HP:0011873	Abnormal platelet count	0	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive			37
HP:0011873	HP:0011873	Abnormal platelet count	0	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease			160
HP:0011873	HP:0011873	Abnormal platelet count	0	GATA1 CL E G H	2623	4170	OMIM:300835	Anemia, X-linked, with or without neutropenia and/or platelet abnormalities			29
HP:0011873	HP:0011873	Abnormal platelet count	0	GATA1 CL E G H	2623	4170	ORPHA:231393	Beta-thalassemia-X-linked thrombocytopenia syndrome			29
HP:0011873	HP:0011873	Abnormal platelet count	0	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia			29
HP:0011873	HP:0011873	Abnormal platelet count	0	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria			29
HP:0011873	HP:0011873	Abnormal platelet count	0	GATA1 CL E G H	2623	4170	OMIM:314050	Thrombocytopenia with beta-thalassemia, X-linked			29
HP:0011873	HP:0011873	Abnormal platelet count	0	GATA1 CL E G H	2623	4170	ORPHA:67044	Thrombocytopenia with congenital dyserythropoietic anemia			29
HP:0011873	HP:0011873	Abnormal platelet count	0	GATA1 CL E G H	2623	4170	OMIM:300367	Thrombocytopenia, X-linked, with or without dyserythropoietic anemia			29
HP:0011873	HP:0011873	Abnormal platelet count	0	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome			137
HP:0011873	HP:0011873	Abnormal platelet count	0	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease
HP:0011873	HP:0011873	Abnormal platelet count	0	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1
HP:0011873	HP:0011873	Abnormal platelet count	0	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3
HP:0011873	HP:0011873	Abnormal platelet count	0	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0011873	HP:0011873	Abnormal platelet count	0	GBA1 CL E G H	2629	4177	OMIM:230800	Gaucher disease, type I
HP:0011873	HP:0011873	Abnormal platelet count	0	GBA1 CL E G H	2629	4177	OMIM:230900	Gaucher disease, type II
HP:0011873	HP:0011873	Abnormal platelet count	0	GBA1 CL E G H	2629	4177	OMIM:231000	Gaucher disease, type III
HP:0011873	HP:0011873	Abnormal platelet count	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0011873	HP:0011873	Abnormal platelet count	0	GFI1B CL E G H	8328	4238	OMIM:187900	Bleeding disorder, platelet-type, 17			3
HP:0011873	HP:0011873	Abnormal platelet count	0	GIMAP5 CL E G H	55340	18005	OMIM:619463	PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0011873	HP:0011873	Abnormal platelet count	0	GNA14 CL E G H	9630	4382	ORPHA:1063	Tufted angioma
HP:0011873	HP:0011873	Abnormal platelet count	0	GP1BA CL E G H	2811	4439	ORPHA:274	Bernard-Soulier syndrome			23
HP:0011873	HP:0011873	Abnormal platelet count	0	GP1BA CL E G H	2811	4439	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS			23
HP:0011873	HP:0011873	Abnormal platelet count	0	GP1BA CL E G H	2811	4439	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			23
HP:0011873	HP:0011873	Abnormal platelet count	0	GP1BA CL E G H	2811	4439	OMIM:177820	Pseudo-Von willebrand disease			23
HP:0011873	HP:0011873	Abnormal platelet count	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0011873	HP:0011873	Abnormal platelet count	0	GP1BB CL E G H	2812	4440	ORPHA:274	Bernard-Soulier syndrome			8
HP:0011873	HP:0011873	Abnormal platelet count	0	GP1BB CL E G H	2812	4440	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS			8
HP:0011873	HP:0011873	Abnormal platelet count	0	GP1BB CL E G H	2812	4440	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			8
HP:0011873	HP:0011873	Abnormal platelet count	0	GP9 CL E G H	2815	4444	ORPHA:274	Bernard-Soulier syndrome			21
HP:0011873	HP:0011873	Abnormal platelet count	0	GP9 CL E G H	2815	4444	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS			21
HP:0011873	HP:0011873	Abnormal platelet count	0	GUCY1A1 CL E G H	2982	4685	ORPHA:401945	Moyamoya disease with early-onset achalasia
HP:0011873	HP:0011873	Abnormal platelet count	0	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia			580
HP:0011873	HP:0011873	Abnormal platelet count	0	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0011873	HP:0011873	Abnormal platelet count	0	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome
HP:0011873	HP:0011873	Abnormal platelet count	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0011873	HP:0011873	Abnormal platelet count	0	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome			4
HP:0011873	HP:0011873	Abnormal platelet count	0	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0011873	HP:0011873	Abnormal platelet count	0	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0011873	HP:0011873	Abnormal platelet count	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis			2
HP:0011873	HP:0011873	Abnormal platelet count	0	HLCS CL E G H	3141	4976	OMIM:253270	Holocarboxylase synthetase deficiency			148
HP:0011873	HP:0011873	Abnormal platelet count	0	HLCS CL E G H	3141	4976	ORPHA:79242	Holocarboxylase synthetase deficiency			148
HP:0011873	HP:0011873	Abnormal platelet count	0	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria			35
HP:0011873	HP:0011873	Abnormal platelet count	0	HMOX1 CL E G H	3162	5013	OMIM:614034	HEME OXYGENASE 1 DEFICIENCY; HMOX1D			3
HP:0011873	HP:0011873	Abnormal platelet count	0	HOXA11 CL E G H	3207	5101	ORPHA:71289	Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome			3
HP:0011873	HP:0011873	Abnormal platelet count	0	HOXA11 CL E G H	3207	5101	OMIM:605432	Radioulnar synostosis with amegakaryocytic thrombocytopenia			3
HP:0011873	HP:0011873	Abnormal platelet count	0	HSCB CL E G H	150274	28913	OMIM:619523	ANEMIA, SIDEROBLASTIC, 5; SIDBA5
HP:0011873	HP:0011873	Abnormal platelet count	0	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency			32
HP:0011873	HP:0011873	Abnormal platelet count	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome			28
HP:0011873	HP:0011873	Abnormal platelet count	0	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7			28
HP:0011873	HP:0011873	Abnormal platelet count	0	IFNG CL E G H	3458	5438	ORPHA:88	Idiopathic aplastic anemia			23
HP:0011873	HP:0011873	Abnormal platelet count	0	IFNG CL E G H	3458	5438	OMIM:618963	IMMUNODEFICIENCY 69; IMD69			23
HP:0011873	HP:0011873	Abnormal platelet count	0	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR			60
HP:0011873	HP:0011873	Abnormal platelet count	0	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome			8
HP:0011873	HP:0011873	Abnormal platelet count	0	IKZF5 CL E G H	64376	14283	OMIM:619130	THROMBOCYTOPENIA 7; THC7
HP:0011873	HP:0011873	Abnormal platelet count	0	IL6ST CL E G H	3572	6021	OMIM:619751	STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0011873	HP:0011873	Abnormal platelet count	0	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency			94
HP:0011873	HP:0011873	Abnormal platelet count	0	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0011873	HP:0011873	Abnormal platelet count	0	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia			4
HP:0011873	HP:0011873	Abnormal platelet count	0	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency			4
HP:0011873	HP:0011873	Abnormal platelet count	0	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B			5
HP:0011873	HP:0011873	Abnormal platelet count	0	ITGA2 CL E G H	3673	6137	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			119
HP:0011873	HP:0011873	Abnormal platelet count	0	ITGA2B CL E G H	3674	6138	OMIM:187800	Bleeding disorder, platelet-type, 16			69
HP:0011873	HP:0011873	Abnormal platelet count	0	ITGA2B CL E G H	3674	6138	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			69
HP:0011873	HP:0011873	Abnormal platelet count	0	ITGB3 CL E G H	3690	6156	OMIM:619271	BLEEDING DISORDER, PLATELET-TYPE, 24; BDPLT24			80
HP:0011873	HP:0011873	Abnormal platelet count	0	ITGB3 CL E G H	3690	6156	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			80
HP:0011873	HP:0011873	Abnormal platelet count	0	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1			51
HP:0011873	HP:0011873	Abnormal platelet count	0	IVD CL E G H	3712	6186	OMIM:243500	Isovaleric acidemia			105
HP:0011873	HP:0011873	Abnormal platelet count	0	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis			57
HP:0011873	HP:0011873	Abnormal platelet count	0	JAK2 CL E G H	3717	6192	OMIM:263300	Polycythemia vera			57
HP:0011873	HP:0011873	Abnormal platelet count	0	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis			57
HP:0011873	HP:0011873	Abnormal platelet count	0	JAK2 CL E G H	3717	6192	OMIM:614521	Thrombocythemia 3			57
HP:0011873	HP:0011873	Abnormal platelet count	0	JAM2 CL E G H	58494	14686	ORPHA:1980	Bilateral striopallidodentate calcinosis
HP:0011873	HP:0011873	Abnormal platelet count	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0011873	HP:0011873	Abnormal platelet count	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1			53
HP:0011873	HP:0011873	Abnormal platelet count	0	KIF15 CL E G H	56992	17273	OMIM:619981
HP:0011873	HP:0011873	Abnormal platelet count	0	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0011873	HP:0011873	Abnormal platelet count	0	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			327
HP:0011873	HP:0011873	Abnormal platelet count	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1			660
HP:0011873	HP:0011873	Abnormal platelet count	0	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic			196
HP:0011873	HP:0011873	Abnormal platelet count	0	LACC1 CL E G H	144811	26789	OMIM:618795	JUVENILE ARTHRITIS; JUVAR			1
HP:0011873	HP:0011873	Abnormal platelet count	0	LARS2 CL E G H	23395	17095	OMIM:617021	Hydrops, lactic acidosis, and sideroblastic anemia			54
HP:0011873	HP:0011873	Abnormal platelet count	0	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52			2
HP:0011873	HP:0011873	Abnormal platelet count	0	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly			70
HP:0011873	HP:0011873	Abnormal platelet count	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome			88
HP:0011873	HP:0011873	Abnormal platelet count	0	LIG4 CL E G H	3981	6601	OMIM:606593	Lig4 syndrome			88
HP:0011873	HP:0011873	Abnormal platelet count	0	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency			73
HP:0011873	HP:0011873	Abnormal platelet count	0	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type			46
HP:0011873	HP:0011873	Abnormal platelet count	0	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8			45
HP:0011873	HP:0011873	Abnormal platelet count	0	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0011873	HP:0011873	Abnormal platelet count	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome			239
HP:0011873	HP:0011873	Abnormal platelet count	0	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome			239
HP:0011873	HP:0011873	Abnormal platelet count	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia			1
HP:0011873	HP:0011873	Abnormal platelet count	0	MAD2L2 CL E G H	10459	6764	OMIM:617243	Fanconi anemia, complementation group V			1
HP:0011873	HP:0011873	Abnormal platelet count	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0011873	HP:0011873	Abnormal platelet count	0	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH			5
HP:0011873	HP:0011873	Abnormal platelet count	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:0011873	HP:0011873	Abnormal platelet count	0	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0011873	HP:0011873	Abnormal platelet count	0	MARS1 CL E G H	4141	6898	OMIM:615486	Interstitial lung and liver disease
HP:0011873	HP:0011873	Abnormal platelet count	0	MECOM CL E G H	2122	3498	ORPHA:71289	Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome			4
HP:0011873	HP:0011873	Abnormal platelet count	0	MECOM CL E G H	2122	3498	OMIM:616738	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2			4
HP:0011873	HP:0011873	Abnormal platelet count	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0011873	HP:0011873	Abnormal platelet count	0	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type			113
HP:0011873	HP:0011873	Abnormal platelet count	0	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type			127
HP:0011873	HP:0011873	Abnormal platelet count	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC			101
HP:0011873	HP:0011873	Abnormal platelet count	0	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type			101
HP:0011873	HP:0011873	Abnormal platelet count	0	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0011873	HP:0011873	Abnormal platelet count	0	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-
HP:0011873	HP:0011873	Abnormal platelet count	0	MMUT CL E G H	4594	7526	ORPHA:289916	Vitamin B12-unresponsive methylmalonic acidemia type mut0
HP:0011873	HP:0011873	Abnormal platelet count	0	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG			37
HP:0011873	HP:0011873	Abnormal platelet count	0	MPIG6B CL E G H	80739	13937	OMIM:617441	Thrombocytopenia, anemia, and myelofibrosis			1
HP:0011873	HP:0011873	Abnormal platelet count	0	MPL CL E G H	4352	7217	OMIM:604498	Amegakaryocytic thrombocytopenia, congenital			97
HP:0011873	HP:0011873	Abnormal platelet count	0	MPL CL E G H	4352	7217	ORPHA:3319	Congenital amegakaryocytic thrombocytopenia			97
HP:0011873	HP:0011873	Abnormal platelet count	0	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis			97
HP:0011873	HP:0011873	Abnormal platelet count	0	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis			97
HP:0011873	HP:0011873	Abnormal platelet count	0	MPL CL E G H	4352	7217	OMIM:601977	THROMBOCYTHEMIA 2; THCYT2			97
HP:0011873	HP:0011873	Abnormal platelet count	0	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency			1
HP:0011873	HP:0011873	Abnormal platelet count	0	MTHFD1 CL E G H	4522	7432	OMIM:617780	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia			5
HP:0011873	HP:0011873	Abnormal platelet count	0	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome			68
HP:0011873	HP:0011873	Abnormal platelet count	0	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria			150
HP:0011873	HP:0011873	Abnormal platelet count	0	MYH9 CL E G H	4627	7579	OMIM:155100	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss			297
HP:0011873	HP:0011873	Abnormal platelet count	0	MYH9 CL E G H	4627	7579	ORPHA:182050	MYH9-related disease			297
HP:0011873	HP:0011873	Abnormal platelet count	0	MYORG CL E G H	57462	19918	ORPHA:1980	Bilateral striopallidodentate calcinosis
HP:0011873	HP:0011873	Abnormal platelet count	0	MYSM1 CL E G H	114803	29401	OMIM:618116	Bone marrow failure syndrome 4
HP:0011873	HP:0011873	Abnormal platelet count	0	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
HP:0011873	HP:0011873	Abnormal platelet count	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0011873	HP:0011873	Abnormal platelet count	0	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia
HP:0011873	HP:0011873	Abnormal platelet count	0	NBEAL2 CL E G H	23218	31928	ORPHA:721	Gray platelet syndrome			127
HP:0011873	HP:0011873	Abnormal platelet count	0	NBEAL2 CL E G H	23218	31928	OMIM:139090	Gray platelet syndrome			127
HP:0011873	HP:0011873	Abnormal platelet count	0	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome			706
HP:0011873	HP:0011873	Abnormal platelet count	0	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome			706
HP:0011873	HP:0011873	Abnormal platelet count	0	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency			7
HP:0011873	HP:0011873	Abnormal platelet count	0	NFKB1 CL E G H	4790	7794	OMIM:616576	IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12			7
HP:0011873	HP:0011873	Abnormal platelet count	0	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency			11
HP:0011873	HP:0011873	Abnormal platelet count	0	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome			11
HP:0011873	HP:0011873	Abnormal platelet count	0	NHEJ1 CL E G H	79840	25737	ORPHA:169079	Cernunnos-XLF deficiency			20
HP:0011873	HP:0011873	Abnormal platelet count	0	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita			27
HP:0011873	HP:0011873	Abnormal platelet count	0	NHP2 CL E G H	55651	14377	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1			27
HP:0011873	HP:0011873	Abnormal platelet count	0	NHP2 CL E G H	55651	14377	OMIM:613987	Dyskeratosis congenita, autosomal recessive, 2			27
HP:0011873	HP:0011873	Abnormal platelet count	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0011873	HP:0011873	Abnormal platelet count	0	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC			30
HP:0011873	HP:0011873	Abnormal platelet count	0	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita			17
HP:0011873	HP:0011873	Abnormal platelet count	0	NOP10 CL E G H	55505	14378	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1			17
HP:0011873	HP:0011873	Abnormal platelet count	0	NOS3 CL E G H	4846	7876	OMIM:189800	Preeclampsia/eclampsia 1			8
HP:0011873	HP:0011873	Abnormal platelet count	0	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome			452
HP:0011873	HP:0011873	Abnormal platelet count	0	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia			12
HP:0011873	HP:0011873	Abnormal platelet count	0	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita			12
HP:0011873	HP:0011873	Abnormal platelet count	0	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic			102
HP:0011873	HP:0011873	Abnormal platelet count	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome			84
HP:0011873	HP:0011873	Abnormal platelet count	0	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia
HP:0011873	HP:0011873	Abnormal platelet count	0	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria			23
HP:0011873	HP:0011873	Abnormal platelet count	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0011873	HP:0011873	Abnormal platelet count	0	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5			73
HP:0011873	HP:0011873	Abnormal platelet count	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0011873	HP:0011873	Abnormal platelet count	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia			1349
HP:0011873	HP:0011873	Abnormal platelet count	0	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita			26
HP:0011873	HP:0011873	Abnormal platelet count	0	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			26
HP:0011873	HP:0011873	Abnormal platelet count	0	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia			96
HP:0011873	HP:0011873	Abnormal platelet count	0	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia			92
HP:0011873	HP:0011873	Abnormal platelet count	0	PDGFB CL E G H	5155	8800	ORPHA:1980	Bilateral striopallidodentate calcinosis			9
HP:0011873	HP:0011873	Abnormal platelet count	0	PDGFRB CL E G H	5159	8804	ORPHA:1980	Bilateral striopallidodentate calcinosis			28
HP:0011873	HP:0011873	Abnormal platelet count	0	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency			66
HP:0011873	HP:0011873	Abnormal platelet count	0	PHGDH CL E G H	26227	8923	OMIM:601815	Phosphoglycerate dehydrogenase deficiency			37
HP:0011873	HP:0011873	Abnormal platelet count	0	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH			46
HP:0011873	HP:0011873	Abnormal platelet count	0	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria			46
HP:0011873	HP:0011873	Abnormal platelet count	0	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B			9
HP:0011873	HP:0011873	Abnormal platelet count	0	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97			2
HP:0011873	HP:0011873	Abnormal platelet count	0	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease			563
HP:0011873	HP:0011873	Abnormal platelet count	0	PLAU CL E G H	5328	9052	OMIM:601709	Quebec platelet disorder			50
HP:0011873	HP:0011873	Abnormal platelet count	0	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia			3
HP:0011873	HP:0011873	Abnormal platelet count	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia			150
HP:0011873	HP:0011873	Abnormal platelet count	0	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency			52
HP:0011873	HP:0011873	Abnormal platelet count	0	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency			52
HP:0011873	HP:0011873	Abnormal platelet count	0	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0011873	HP:0011873	Abnormal platelet count	0	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2			2
HP:0011873	HP:0011873	Abnormal platelet count	0	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0011873	HP:0011873	Abnormal platelet count	0	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type
HP:0011873	HP:0011873	Abnormal platelet count	0	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			58
HP:0011873	HP:0011873	Abnormal platelet count	0	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2			58
HP:0011873	HP:0011873	Abnormal platelet count	0	PRF1 CL E G H	5551	9360	ORPHA:88	Idiopathic aplastic anemia			58
HP:0011873	HP:0011873	Abnormal platelet count	0	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0011873	HP:0011873	Abnormal platelet count	0	PRKACG CL E G H	5568	9382	OMIM:616176	Bleeding disorder, platelet-type, 19			2
HP:0011873	HP:0011873	Abnormal platelet count	0	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia			134
HP:0011873	HP:0011873	Abnormal platelet count	0	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome			10
HP:0011873	HP:0011873	Abnormal platelet count	0	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3			10
HP:0011873	HP:0011873	Abnormal platelet count	0	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency			10
HP:0011873	HP:0011873	Abnormal platelet count	0	PSAP CL E G H	5660	9498	OMIM:610539	Gaucher disease, atypical			81
HP:0011873	HP:0011873	Abnormal platelet count	0	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0011873	HP:0011873	Abnormal platelet count	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0011873	HP:0011873	Abnormal platelet count	0	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0011873	HP:0011873	Abnormal platelet count	0	PSTPIP1 CL E G H	9051	9580	OMIM:604416	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne			96
HP:0011873	HP:0011873	Abnormal platelet count	0	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0011873	HP:0011873	Abnormal platelet count	0	PTPN22 CL E G H	26191	9652	OMIM:152700	Systemic lupus erythematosus			3
HP:0011873	HP:0011873	Abnormal platelet count	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia			9
HP:0011873	HP:0011873	Abnormal platelet count	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia			391
HP:0011873	HP:0011873	Abnormal platelet count	0	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome			127
HP:0011873	HP:0011873	Abnormal platelet count	0	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency			127
HP:0011873	HP:0011873	Abnormal platelet count	0	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome			50
HP:0011873	HP:0011873	Abnormal platelet count	0	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency			50
HP:0011873	HP:0011873	Abnormal platelet count	0	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia			2
HP:0011873	HP:0011873	Abnormal platelet count	0	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0011873	HP:0011873	Abnormal platelet count	0	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0011873	HP:0011873	Abnormal platelet count	0	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome			10
HP:0011873	HP:0011873	Abnormal platelet count	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0011873	HP:0011873	Abnormal platelet count	0	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome			3
HP:0011873	HP:0011873	Abnormal platelet count	0	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92			1
HP:0011873	HP:0011873	Abnormal platelet count	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0011873	HP:0011873	Abnormal platelet count	0	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II			38
HP:0011873	HP:0011873	Abnormal platelet count	0	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II			26
HP:0011873	HP:0011873	Abnormal platelet count	0	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II			34
HP:0011873	HP:0011873	Abnormal platelet count	0	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome			33
HP:0011873	HP:0011873	Abnormal platelet count	0	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4			33
HP:0011873	HP:0011873	Abnormal platelet count	0	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome			34
HP:0011873	HP:0011873	Abnormal platelet count	0	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome			60
HP:0011873	HP:0011873	Abnormal platelet count	0	RNASEH2C CL E G H	84153	24116	OMIM:610329	Aicardi-Goutieres syndrome 3			60
HP:0011873	HP:0011873	Abnormal platelet count	0	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0011873	HP:0011873	Abnormal platelet count	0	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia			22
HP:0011873	HP:0011873	Abnormal platelet count	0	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia			3
HP:0011873	HP:0011873	Abnormal platelet count	0	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0011873	HP:0011873	Abnormal platelet count	0	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia			3
HP:0011873	HP:0011873	Abnormal platelet count	0	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011873	HP:0011873	Abnormal platelet count	0	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0011873	HP:0011873	Abnormal platelet count	0	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0011873	HP:0011873	Abnormal platelet count	0	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia			11
HP:0011873	HP:0011873	Abnormal platelet count	0	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia			40
HP:0011873	HP:0011873	Abnormal platelet count	0	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia			26
HP:0011873	HP:0011873	Abnormal platelet count	0	RPS14 CL E G H	6208	10387	ORPHA:86841	Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
HP:0011873	HP:0011873	Abnormal platelet count	0	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0011873	HP:0011873	Abnormal platelet count	0	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia			5
HP:0011873	HP:0011873	Abnormal platelet count	0	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia			42
HP:0011873	HP:0011873	Abnormal platelet count	0	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1			42
HP:0011873	HP:0011873	Abnormal platelet count	0	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011873	HP:0011873	Abnormal platelet count	0	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia			22
HP:0011873	HP:0011873	Abnormal platelet count	0	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia			20
HP:0011873	HP:0011873	Abnormal platelet count	0	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011873	HP:0011873	Abnormal platelet count	0	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011873	HP:0011873	Abnormal platelet count	0	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia			3
HP:0011873	HP:0011873	Abnormal platelet count	0	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia			20
HP:0011873	HP:0011873	Abnormal platelet count	0	RPSA CL E G H	3921	6502	OMIM:271400	Asplenia, isolated congenital			9
HP:0011873	HP:0011873	Abnormal platelet count	0	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12			1
HP:0011873	HP:0011873	Abnormal platelet count	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0011873	HP:0011873	Abnormal platelet count	0	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita			77
HP:0011873	HP:0011873	Abnormal platelet count	0	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			77
HP:0011873	HP:0011873	Abnormal platelet count	0	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis			181
HP:0011873	HP:0011873	Abnormal platelet count	0	RUNX1 CL E G H	861	10471	ORPHA:521	Chronic myeloid leukemia			181
HP:0011873	HP:0011873	Abnormal platelet count	0	RUNX1 CL E G H	861	10471	OMIM:601399	Platelet disorder, familial, with associated myeloid malignancy			181
HP:0011873	HP:0011873	Abnormal platelet count	0	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia			1200
HP:0011873	HP:0011873	Abnormal platelet count	0	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome			86
HP:0011873	HP:0011873	Abnormal platelet count	0	SALL4 CL E G H	57167	15924	ORPHA:2307	IVIC syndrome			86
HP:0011873	HP:0011873	Abnormal platelet count	0	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome			8
HP:0011873	HP:0011873	Abnormal platelet count	0	SAMD9 CL E G H	54809	1348	OMIM:619041	MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2; M7MLS2			8
HP:0011873	HP:0011873	Abnormal platelet count	0	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome			4
HP:0011873	HP:0011873	Abnormal platelet count	0	SAMD9L CL E G H	219285	1349	OMIM:252270	Myelodysplasia and leukemia syndrome with monosomy 7			4
HP:0011873	HP:0011873	Abnormal platelet count	0	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome			55
HP:0011873	HP:0011873	Abnormal platelet count	0	SAMHD1 CL E G H	25939	15925	OMIM:612952	Aicardi-Goutieres syndrome 5			55
HP:0011873	HP:0011873	Abnormal platelet count	0	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome			60
HP:0011873	HP:0011873	Abnormal platelet count	0	SASH3 CL E G H	54440	15975	OMIM:301082				1
HP:0011873	HP:0011873	Abnormal platelet count	0	SBDS CL E G H	51119	19440	ORPHA:88	Idiopathic aplastic anemia			26
HP:0011873	HP:0011873	Abnormal platelet count	0	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome			26
HP:0011873	HP:0011873	Abnormal platelet count	0	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1			26
HP:0011873	HP:0011873	Abnormal platelet count	0	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis			80
HP:0011873	HP:0011873	Abnormal platelet count	0	SCARB2 CL E G H	950	1665	OMIM:254900	Epilepsy, progressive myoclonic, 4, with or without renal failure			77
HP:0011873	HP:0011873	Abnormal platelet count	0	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1			77
HP:0011873	HP:0011873	Abnormal platelet count	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0011873	HP:0011873	Abnormal platelet count	0	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia			19
HP:0011873	HP:0011873	Abnormal platelet count	0	SH2B3 CL E G H	10019	29605	OMIM:187950	THROMBOCYTHEMIA 1; THCYT1			4
HP:0011873	HP:0011873	Abnormal platelet count	0	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1			37
HP:0011873	HP:0011873	Abnormal platelet count	0	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0011873	HP:0011873	Abnormal platelet count	0	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0011873	HP:0011873	Abnormal platelet count	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0011873	HP:0011873	Abnormal platelet count	0	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome			55
HP:0011873	HP:0011873	Abnormal platelet count	0	SLC19A2 CL E G H	10560	10938	ORPHA:49827	Thiamine-responsive megaloblastic anemia syndrome			55
HP:0011873	HP:0011873	Abnormal platelet count	0	SLC20A2 CL E G H	6575	10947	ORPHA:1980	Bilateral striopallidodentate calcinosis			70
HP:0011873	HP:0011873	Abnormal platelet count	0	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf			24
HP:0011873	HP:0011873	Abnormal platelet count	0	SLC35A1 CL E G H	10559	11021	ORPHA:238459	SLC35A1-CDG			24
HP:0011873	HP:0011873	Abnormal platelet count	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0011873	HP:0011873	Abnormal platelet count	0	SLC39A7 CL E G H	7922	4927	OMIM:619693	AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9
HP:0011873	HP:0011873	Abnormal platelet count	0	SLC46A1 CL E G H	113235	30521	OMIM:229050	Folate malabsorption, hereditary			101
HP:0011873	HP:0011873	Abnormal platelet count	0	SLC46A1 CL E G H	113235	30521	ORPHA:90045	Hereditary folate malabsorption			101
HP:0011873	HP:0011873	Abnormal platelet count	0	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance			104
HP:0011873	HP:0011873	Abnormal platelet count	0	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance			104
HP:0011873	HP:0011873	Abnormal platelet count	0	SLFN14 CL E G H	342618	32689	OMIM:616913	Bleeding disorder, platelet-type, 20			6
HP:0011873	HP:0011873	Abnormal platelet count	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia			274
HP:0011873	HP:0011873	Abnormal platelet count	0	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type			74
HP:0011873	HP:0011873	Abnormal platelet count	0	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia			74
HP:0011873	HP:0011873	Abnormal platelet count	0	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2			3
HP:0011873	HP:0011873	Abnormal platelet count	0	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B			164
HP:0011873	HP:0011873	Abnormal platelet count	0	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B			164
HP:0011873	HP:0011873	Abnormal platelet count	0	SNX10 CL E G H	29887	14974	OMIM:615085	Osteopetrosis, autosomal recessive 8			2
HP:0011873	HP:0011873	Abnormal platelet count	0	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD			6
HP:0011873	HP:0011873	Abnormal platelet count	0	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0011873	HP:0011873	Abnormal platelet count	0	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome			49
HP:0011873	HP:0011873	Abnormal platelet count	0	SPATA5 CL E G H	166378	18119	OMIM:616577	Epilepsy, hearing loss, and mental retardation syndrome			19
HP:0011873	HP:0011873	Abnormal platelet count	0	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome			19
HP:0011873	HP:0011873	Abnormal platelet count	0	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0011873	HP:0011873	Abnormal platelet count	0	SRC CL E G H	6714	11283	OMIM:616937	Thrombocytopenia 6			15
HP:0011873	HP:0011873	Abnormal platelet count	0	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome
HP:0011873	HP:0011873	Abnormal platelet count	0	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0011873	HP:0011873	Abnormal platelet count	0	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis			1
HP:0011873	HP:0011873	Abnormal platelet count	0	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			1
HP:0011873	HP:0011873	Abnormal platelet count	0	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome			89
HP:0011873	HP:0011873	Abnormal platelet count	0	STAT2 CL E G H	6773	11363	OMIM:618886	PSEUDO-TORCH SYNDROME 3; PTORCH3			9
HP:0011873	HP:0011873	Abnormal platelet count	0	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia			110
HP:0011873	HP:0011873	Abnormal platelet count	0	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1			110
HP:0011873	HP:0011873	Abnormal platelet count	0	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus			2
HP:0011873	HP:0011873	Abnormal platelet count	0	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia			12
HP:0011873	HP:0011873	Abnormal platelet count	0	STIM1 CL E G H	6786	11386	OMIM:612783	Immunodeficiency 10			31
HP:0011873	HP:0011873	Abnormal platelet count	0	STIM1 CL E G H	6786	11386	OMIM:185070	Stormorken syndrome			31
HP:0011873	HP:0011873	Abnormal platelet count	0	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0011873	HP:0011873	Abnormal platelet count	0	STOX1 CL E G H	219736	23508	ORPHA:275555	Preeclampsia			2
HP:0011873	HP:0011873	Abnormal platelet count	0	STT3B CL E G H	201595	30611	OMIM:615597	Congenital disorder of glycosylation, type Ix			18
HP:0011873	HP:0011873	Abnormal platelet count	0	STT3B CL E G H	201595	30611	ORPHA:370924	STT3B-CDG			18
HP:0011873	HP:0011873	Abnormal platelet count	0	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			85
HP:0011873	HP:0011873	Abnormal platelet count	0	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4			85
HP:0011873	HP:0011873	Abnormal platelet count	0	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			70
HP:0011873	HP:0011873	Abnormal platelet count	0	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5			70
HP:0011873	HP:0011873	Abnormal platelet count	0	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency			34
HP:0011873	HP:0011873	Abnormal platelet count	0	TALDO1 CL E G H	6888	11559	ORPHA:101028	Transaldolase deficiency			34
HP:0011873	HP:0011873	Abnormal platelet count	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome			271
HP:0011873	HP:0011873	Abnormal platelet count	0	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia			22
HP:0011873	HP:0011873	Abnormal platelet count	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0011873	HP:0011873	Abnormal platelet count	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0011873	HP:0011873	Abnormal platelet count	0	TBXAS1 CL E G H	6916	11609	OMIM:231095	Ghosal hematodiaphyseal dysplasia			16
HP:0011873	HP:0011873	Abnormal platelet count	0	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1			82
HP:0011873	HP:0011873	Abnormal platelet count	0	TCN2 CL E G H	6948	11653	ORPHA:859	Transcobalamin deficiency			57
HP:0011873	HP:0011873	Abnormal platelet count	0	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita			48
HP:0011873	HP:0011873	Abnormal platelet count	0	TERC CL E G H	7012	11727	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1			48
HP:0011873	HP:0011873	Abnormal platelet count	0	TERC CL E G H	7012	11727	ORPHA:88	Idiopathic aplastic anemia			48
HP:0011873	HP:0011873	Abnormal platelet count	0	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita			238
HP:0011873	HP:0011873	Abnormal platelet count	0	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2			238
HP:0011873	HP:0011873	Abnormal platelet count	0	TERT CL E G H	7015	11730	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1			238
HP:0011873	HP:0011873	Abnormal platelet count	0	TERT CL E G H	7015	11730	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			238
HP:0011873	HP:0011873	Abnormal platelet count	0	TERT CL E G H	7015	11730	ORPHA:88	Idiopathic aplastic anemia			238
HP:0011873	HP:0011873	Abnormal platelet count	0	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia			3
HP:0011873	HP:0011873	Abnormal platelet count	0	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis			3
HP:0011873	HP:0011873	Abnormal platelet count	0	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis			3
HP:0011873	HP:0011873	Abnormal platelet count	0	TET2 CL E G H	54790	25941	ORPHA:98826	Refractory anemia			3
HP:0011873	HP:0011873	Abnormal platelet count	0	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			3
HP:0011873	HP:0011873	Abnormal platelet count	0	TFRC CL E G H	7037	11763	OMIM:616740	Immunodeficiency 46			1
HP:0011873	HP:0011873	Abnormal platelet count	0	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE			13
HP:0011873	HP:0011873	Abnormal platelet count	0	THBD CL E G H	7056	11784	OMIM:612926	Hemolytic uremic syndrome, atypical, susceptibility to, 6			60
HP:0011873	HP:0011873	Abnormal platelet count	0	THPO CL E G H	7066	11795	ORPHA:3319	Congenital amegakaryocytic thrombocytopenia			23
HP:0011873	HP:0011873	Abnormal platelet count	0	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis			23
HP:0011873	HP:0011873	Abnormal platelet count	0	THPO CL E G H	7066	11795	OMIM:187950	THROMBOCYTHEMIA 1; THCYT1			23
HP:0011873	HP:0011873	Abnormal platelet count	0	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita			60
HP:0011873	HP:0011873	Abnormal platelet count	0	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3			60
HP:0011873	HP:0011873	Abnormal platelet count	0	TINF2 CL E G H	26277	11824	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1			60
HP:0011873	HP:0011873	Abnormal platelet count	0	TINF2 CL E G H	26277	11824	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			60
HP:0011873	HP:0011873	Abnormal platelet count	0	TLR7 CL E G H	51284	15631	OMIM:301080
HP:0011873	HP:0011873	Abnormal platelet count	0	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0011873	HP:0011873	Abnormal platelet count	0	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK			24
HP:0011873	HP:0011873	Abnormal platelet count	0	TNFAIP3 CL E G H	7128	11896	OMIM:616744	AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL			26
HP:0011873	HP:0011873	Abnormal platelet count	0	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency			32
HP:0011873	HP:0011873	Abnormal platelet count	0	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency			12
HP:0011873	HP:0011873	Abnormal platelet count	0	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2			44
HP:0011873	HP:0011873	Abnormal platelet count	0	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency			1
HP:0011873	HP:0011873	Abnormal platelet count	0	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0011873	HP:0011873	Abnormal platelet count	0	TPP2 CL E G H	7174	12016	ORPHA:444463	Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
HP:0011873	HP:0011873	Abnormal platelet count	0	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0011873	HP:0011873	Abnormal platelet count	0	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome			56
HP:0011873	HP:0011873	Abnormal platelet count	0	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1			56
HP:0011873	HP:0011873	Abnormal platelet count	0	TREX1 CL E G H	11277	12269	OMIM:152700	Systemic lupus erythematosus			56
HP:0011873	HP:0011873	Abnormal platelet count	0	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011873	HP:0011873	Abnormal platelet count	0	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome			26
HP:0011873	HP:0011873	Abnormal platelet count	0	TUBA8 CL E G H	51807	12410	OMIM:619840				21
HP:0011873	HP:0011873	Abnormal platelet count	0	TUBB1 CL E G H	81027	16257	OMIM:613112	Macrothrombocytopenia, autosomal dominant, tubb1-related			3
HP:0011873	HP:0011873	Abnormal platelet count	0	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita			1
HP:0011873	HP:0011873	Abnormal platelet count	0	UBA1 CL E G H	7317	12469	OMIM:301054	VEXAS SYNDROME; VEXAS			35
HP:0011873	HP:0011873	Abnormal platelet count	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia			2
HP:0011873	HP:0011873	Abnormal platelet count	0	UBE2T CL E G H	29089	25009	OMIM:616435	Fanconi anemia, complementation group T			2
HP:0011873	HP:0011873	Abnormal platelet count	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0011873	HP:0011873	Abnormal platelet count	0	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			116
HP:0011873	HP:0011873	Abnormal platelet count	0	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0011873	HP:0011873	Abnormal platelet count	0	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria			41
HP:0011873	HP:0011873	Abnormal platelet count	0	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic			41
HP:0011873	HP:0011873	Abnormal platelet count	0	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita			8
HP:0011873	HP:0011873	Abnormal platelet count	0	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2			2
HP:0011873	HP:0011873	Abnormal platelet count	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders			1
HP:0011873	HP:0011873	Abnormal platelet count	0	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0011873	HP:0011873	Abnormal platelet count	0	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1			63
HP:0011873	HP:0011873	Abnormal platelet count	0	VPS45 CL E G H	11311	14579	OMIM:615285	Neutropenia, severe congenital, 5, autosomal recessive			7
HP:0011873	HP:0011873	Abnormal platelet count	0	VWF CL E G H	7450	12726	OMIM:613554	Von willebrand disease, type 2			533
HP:0011873	HP:0011873	Abnormal platelet count	0	VWF CL E G H	7450	12726	OMIM:277480	Von willebrand disease, type 3			533
HP:0011873	HP:0011873	Abnormal platelet count	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:0011873	HP:0011873	Abnormal platelet count	0	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect			2
HP:0011873	HP:0011873	Abnormal platelet count	0	WAS CL E G H	7454	12731	OMIM:313900	Thrombocytopenia 1			65
HP:0011873	HP:0011873	Abnormal platelet count	0	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome			65
HP:0011873	HP:0011873	Abnormal platelet count	0	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome			65
HP:0011873	HP:0011873	Abnormal platelet count	0	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0011873	HP:0011873	Abnormal platelet count	0	WFS1 CL E G H	7466	12762	OMIM:222300	Wolfram syndrome 1			389
HP:0011873	HP:0011873	Abnormal platelet count	0	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome			6
HP:0011873	HP:0011873	Abnormal platelet count	0	WIPF1 CL E G H	7456	12736	OMIM:614493	WISKOTT-ALDRICH SYNDROME 2; WAS2			6
HP:0011873	HP:0011873	Abnormal platelet count	0	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita			40
HP:0011873	HP:0011873	Abnormal platelet count	0	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1			81
HP:0011873	HP:0011873	Abnormal platelet count	0	XPR1 CL E G H	9213	12827	ORPHA:1980	Bilateral striopallidodentate calcinosis			4
HP:0011873	HP:0011873	Abnormal platelet count	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia			125
HP:0011873	HP:0011873	Abnormal platelet count	0	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency			46
HP:0011873	HP:0011873	Abnormal platelet count	0	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia			1
HP:0011873	HP:0011873	Abnormal platelet count	0	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0011873	HP:0001873	Thrombocytopenia	1	ABCA1 CL E G H	19	29	ORPHA:31150	Tangier disease	HP:0040283 - Occasional		191
HP:0011873	HP:0001873	Thrombocytopenia	1	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type	.		53
HP:0011873	HP:0001873	Thrombocytopenia	1	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1			76
HP:0011873	HP:0001894	Thrombocytosis	1	ABL1 CL E G H	25	76	ORPHA:521	Chronic myeloid leukemia	HP:0040282 - Frequent		51
HP:0011873	HP:0001873	Thrombocytopenia	1	ABL1 CL E G H	25	76	ORPHA:521	Chronic myeloid leukemia	HP:0040282 - Frequent		51
HP:0011873	HP:0001873	Thrombocytopenia	1	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency	HP:0040282 - Frequent		98
HP:0011873	HP:0001873	Thrombocytopenia	1	ACAD9 CL E G H	28976	21497	OMIM:611126	Mitochondrial complex I deficiency due to acad9 deficiency	.		98
HP:0011873	HP:0001894	Thrombocytosis	1	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency	HP:0040282 - Frequent		91
HP:0011873	HP:0001873	Thrombocytopenia	1	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent		11
HP:0011873	HP:0001873	Thrombocytopenia	1	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia			16
HP:0011873	HP:0001873	Thrombocytopenia	1	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation			16
HP:0011873	HP:0001873	Thrombocytopenia	1	ACTN1 CL E G H	87	163	OMIM:615193	BLEEDING DISORDER, PLATELET-TYPE, 15; BDPLT15			9
HP:0011873	HP:0001873	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:0011873	HP:0001894	Thrombocytosis	1	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		22
HP:0011873	HP:0001873	Thrombocytopenia	1	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		22
HP:0011873	HP:0001894	Thrombocytosis	1	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome			22
HP:0011873	HP:0001873	Thrombocytopenia	1	ADAMTS13 CL E G H	11093	1366	OMIM:274150	Thrombotic thrombocytopenic purpura, hereditary	.		129
HP:0011873	HP:0001873	Thrombocytopenia	1	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome			116
HP:0011873	HP:0001873	Thrombocytopenia	1	ADAR CL E G H	103	225	OMIM:615010	Aicardi-Goutieres syndrome 6			116
HP:0011873	HP:0001873	Thrombocytopenia	1	ADH5 CL E G H	128	253	OMIM:619151	AMED SYNDROME, DIGENIC; AMEDS
HP:0011873	HP:0001873	Thrombocytopenia	1	AGK CL E G H	55750	21869	OMIM:212350	Sengers syndrome	HP:0040283 - Occasional		82
HP:0011873	HP:0001873	Thrombocytopenia	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040283 - Occasional		68
HP:0011873	HP:0001873	Thrombocytopenia	1	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG	HP:0040282 - Frequent		46
HP:0011873	HP:0001873	Thrombocytopenia	1	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih	.		46
HP:0011873	HP:0001873	Thrombocytopenia	1	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040283 - Occasional		25
HP:0011873	HP:0001873	Thrombocytopenia	1	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome	HP:0040283 - Occasional		102
HP:0011873	HP:0001873	Thrombocytopenia	1	ANKRD26 CL E G H	22852	29186	OMIM:188000	THROMBOCYTOPENIA 2; THC2			106
HP:0011873	HP:0001873	Thrombocytopenia	1	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0011873	HP:0001873	Thrombocytopenia	1	APOE CL E G H	348	613	OMIM:269600	Sea-Blue histiocyte disease	.		39
HP:0011873	HP:0001873	Thrombocytopenia	1	APOE CL E G H	348	613	ORPHA:158029	Sea-blue histiocytosis	HP:0040281 - Very frequent		39
HP:0011873	HP:0001873	Thrombocytopenia	1	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		147
HP:0011873	HP:0001873	Thrombocytopenia	1	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0011873	HP:0001873	Thrombocytopenia	1	ARPC1B CL E G H	10095	704	OMIM:617718	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease	.
HP:0011873	HP:0001873	Thrombocytopenia	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		1
HP:0011873	HP:0001873	Thrombocytopenia	1	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040284 - Very rare		78
HP:0011873	HP:0001873	Thrombocytopenia	1	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional		145
HP:0011873	HP:0001873	Thrombocytopenia	1	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent		145
HP:0011873	HP:0001873	Thrombocytopenia	1	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47			5
HP:0011873	HP:0001894	Thrombocytosis	1	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040284 - Very rare		5
HP:0011873	HP:0001873	Thrombocytopenia	1	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease	HP:0040281 - Very frequent		315
HP:0011873	HP:0001873	Thrombocytopenia	1	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease			315
HP:0011873	HP:0001873	Thrombocytopenia	1	ATRX CL E G H	546	886	ORPHA:231401	Alpha-thalassemia-myelodysplastic syndrome	HP:0040281 - Very frequent		169
HP:0011873	HP:0001873	Thrombocytopenia	1	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		101
HP:0011873	HP:0001894	Thrombocytosis	1	BCR CL E G H	613	1014	ORPHA:521	Chronic myeloid leukemia	HP:0040282 - Frequent		5
HP:0011873	HP:0001873	Thrombocytopenia	1	BCR CL E G H	613	1014	ORPHA:521	Chronic myeloid leukemia	HP:0040282 - Frequent		5
HP:0011873	HP:0001873	Thrombocytopenia	1	BLOC1S6 CL E G H	26258	8549	OMIM:614171	Hermansky-Pudlak syndrome 9	.		35
HP:0011873	HP:0001873	Thrombocytopenia	1	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0011873	HP:0001873	Thrombocytopenia	1	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		5769
HP:0011873	HP:0001873	Thrombocytopenia	1	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		7642
HP:0011873	HP:0001873	Thrombocytopenia	1	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		1086
HP:0011873	HP:0001873	Thrombocytopenia	1	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia	HP:0040283 - Occasional		109
HP:0011873	HP:0001873	Thrombocytopenia	1	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040282 - Frequent		1
HP:0011873	HP:0001873	Thrombocytopenia	1	C3 CL E G H	718	1318	OMIM:612925	Hemolytic uremic syndrome, atypical, susceptibility to, 5	.		92
HP:0011873	HP:0001873	Thrombocytopenia	1	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis	HP:0040282 - Frequent		29
HP:0011873	HP:0001894	Thrombocytosis	1	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional		1
HP:0011873	HP:0001873	Thrombocytopenia	1	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis	HP:0040282 - Frequent		1
HP:0011873	HP:0001894	Thrombocytosis	1	CALR CL E G H	811	1455	OMIM:187950	THROMBOCYTHEMIA 1; THCYT1			1
HP:0011873	HP:0001873	Thrombocytopenia	1	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome			87
HP:0011873	HP:0001873	Thrombocytopenia	1	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA			87
HP:0011873	HP:0001873	Thrombocytopenia	1	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional		317
HP:0011873	HP:0001873	Thrombocytopenia	1	CD109 CL E G H	135228	21685	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia
HP:0011873	HP:0001873	Thrombocytopenia	1	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency			38
HP:0011873	HP:0001873	Thrombocytopenia	1	CD36 CL E G H	948	1663	OMIM:608404	Platelet glycoprotein IV deficiency	.		53
HP:0011873	HP:0001873	Thrombocytopenia	1	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM	.		33
HP:0011873	HP:0001873	Thrombocytopenia	1	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome	HP:0040280 - Obligate		39
HP:0011873	HP:0001873	Thrombocytopenia	1	CD46 CL E G H	4179	6953	OMIM:612922	Hemolytic uremic syndrome, atypical, susceptibility to, 2	.		39
HP:0011873	HP:0001894	Thrombocytosis	1	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy	HP:0040284 - Very rare		9
HP:0011873	HP:0001873	Thrombocytopenia	1	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency			1
HP:0011873	HP:0001873	Thrombocytopenia	1	CD81 CL E G H	975	1701	OMIM:613496	Immunodeficiency, common variable, 6			1
HP:0011873	HP:0001873	Thrombocytopenia	1	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0011873	HP:0001873	Thrombocytopenia	1	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040282 - Frequent		6
HP:0011873	HP:0001873	Thrombocytopenia	1	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome	HP:0040284 - Very rare		6
HP:0011873	HP:0001873	Thrombocytopenia	1	CFB CL E G H	629	1037	OMIM:612924	Hemolytic uremic syndrome, atypical, susceptibility to, 4	.		30
HP:0011873	HP:0001873	Thrombocytopenia	1	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome	HP:0040280 - Obligate		86
HP:0011873	HP:0001873	Thrombocytopenia	1	CFH CL E G H	3075	4883	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.		86
HP:0011873	HP:0001873	Thrombocytopenia	1	CFHR1 CL E G H	3078	4888	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.
HP:0011873	HP:0001873	Thrombocytopenia	1	CFHR3 CL E G H	10878	16980	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.
HP:0011873	HP:0001873	Thrombocytopenia	1	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome	HP:0040280 - Obligate		57
HP:0011873	HP:0001873	Thrombocytopenia	1	CFI CL E G H	3426	5394	OMIM:612923	Hemolytic uremic syndrome, atypical, susceptibility to, 3	.		57
HP:0011873	HP:0001873	Thrombocytopenia	1	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II			118
HP:0011873	HP:0001873	Thrombocytopenia	1	CLCN7 CL E G H	1186	2025	OMIM:611490	Osteopetrosis, autosomal recessive 4	.		102
HP:0011873	HP:0001873	Thrombocytopenia	1	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0011873	HP:0001873	Thrombocytopenia	1	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg	.		52
HP:0011873	HP:0001873	Thrombocytopenia	1	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG	HP:0040282 - Frequent		67
HP:0011873	HP:0001873	Thrombocytopenia	1	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L			71
HP:0011873	HP:0001873	Thrombocytopenia	1	COL4A5 CL E G H	1287	2207	OMIM:301050	Alport syndrome, X-linked	.		678
HP:0011873	HP:0001873	Thrombocytopenia	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		6
HP:0011873	HP:0001873	Thrombocytopenia	1	CORIN CL E G H	10699	19012	ORPHA:275555	Preeclampsia	HP:0040284 - Very rare		5
HP:0011873	HP:0001873	Thrombocytopenia	1	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency			10
HP:0011873	HP:0001873	Thrombocytopenia	1	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts	HP:0040283 - Occasional		160
HP:0011873	HP:0001873	Thrombocytopenia	1	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		160
HP:0011873	HP:0001873	Thrombocytopenia	1	CTLA4 CL E G H	1493	2505	OMIM:616100	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5			10
HP:0011873	HP:0001873	Thrombocytopenia	1	CTLA4 CL E G H	1493	2505	OMIM:152700	Systemic lupus erythematosus	.		10
HP:0011873	HP:0001873	Thrombocytopenia	1	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0011873	HP:0001873	Thrombocytopenia	1	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040283 - Occasional		273
HP:0011873	HP:0001873	Thrombocytopenia	1	CYCS CL E G H	54205	19986	OMIM:612004	Thrombocytopenia 4	.		82
HP:0011873	HP:0001873	Thrombocytopenia	1	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome	.		94
HP:0011873	HP:0001873	Thrombocytopenia	1	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0011873	HP:0001873	Thrombocytopenia	1	DGKE CL E G H	8526	2852	OMIM:615008	Nephrotic syndrome, type 7	HP:0040283 - Occasional		17
HP:0011873	HP:0001873	Thrombocytopenia	1	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	.		57
HP:0011873	HP:0001873	Thrombocytopenia	1	DHFR CL E G H	1719	2861	OMIM:613839	Megaloblastic anemia due to dihydrofolate reductase deficiency	.		7
HP:0011873	HP:0001873	Thrombocytopenia	1	DIAPH1 CL E G H	1729	2876	OMIM:124900	Deafness, autosomal dominant 1	HP:0040283 - Occasional		118
HP:0011873	HP:0001873	Thrombocytopenia	1	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		65
HP:0011873	HP:0001873	Thrombocytopenia	1	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	.		65
HP:0011873	HP:0001873	Thrombocytopenia	1	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent		65
HP:0011873	HP:0001873	Thrombocytopenia	1	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		9
HP:0011873	HP:0001873	Thrombocytopenia	1	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent		5
HP:0011873	HP:0001873	Thrombocytopenia	1	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1	.		5
HP:0011873	HP:0001873	Thrombocytopenia	1	DNASE1 CL E G H	1773	2956	OMIM:152700	Systemic lupus erythematosus	.		3
HP:0011873	HP:0001873	Thrombocytopenia	1	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40			6
HP:0011873	HP:0001873	Thrombocytopenia	1	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		18
HP:0011873	HP:0001873	Thrombocytopenia	1	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040283 - Occasional		4
HP:0011873	HP:0001873	Thrombocytopenia	1	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent		1
HP:0011873	HP:0001873	Thrombocytopenia	1	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2	.		1
HP:0011873	HP:0001873	Thrombocytopenia	1	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia	HP:0040283 - Occasional		79
HP:0011873	HP:0001894	Thrombocytosis	1	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant	.		79
HP:0011873	HP:0001894	Thrombocytosis	1	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2			1
HP:0011873	HP:0001873	Thrombocytopenia	1	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		4
HP:0011873	HP:0001873	Thrombocytopenia	1	ERBB3 CL E G H	2065	3431	OMIM:133180	Erythroleukemia, familial, susceptibility to	.		12
HP:0011873	HP:0001873	Thrombocytopenia	1	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		158
HP:0011873	HP:0001873	Thrombocytopenia	1	ERCC6L2 CL E G H	375748	26922	OMIM:615715	Bone marrow failure syndrome 2	.		4
HP:0011873	HP:0001873	Thrombocytopenia	1	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome	HP:0040283 - Occasional		92
HP:0011873	HP:0001873	Thrombocytopenia	1	ETV6 CL E G H	2120	3495	OMIM:616216	Thrombocytopenia 5	.		13
HP:0011873	HP:0001873	Thrombocytopenia	1	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia	.		340
HP:0011873	HP:0001873	Thrombocytopenia	1	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		340
HP:0011873	HP:0001873	Thrombocytopenia	1	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		58
HP:0011873	HP:0001873	Thrombocytopenia	1	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB			58
HP:0011873	HP:0001873	Thrombocytopenia	1	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		410
HP:0011873	HP:0001873	Thrombocytopenia	1	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C			410
HP:0011873	HP:0001873	Thrombocytopenia	1	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		147
HP:0011873	HP:0001873	Thrombocytopenia	1	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2			147
HP:0011873	HP:0001873	Thrombocytopenia	1	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		73
HP:0011873	HP:0001873	Thrombocytopenia	1	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E	.		73
HP:0011873	HP:0001873	Thrombocytopenia	1	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		87
HP:0011873	HP:0001873	Thrombocytopenia	1	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF			87
HP:0011873	HP:0001873	Thrombocytopenia	1	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		73
HP:0011873	HP:0001873	Thrombocytopenia	1	FANCG CL E G H	2189	3588	OMIM:614082	FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG			73
HP:0011873	HP:0001873	Thrombocytopenia	1	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		157
HP:0011873	HP:0001873	Thrombocytopenia	1	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		53
HP:0011873	HP:0001873	Thrombocytopenia	1	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		107
HP:0011873	HP:0001873	Thrombocytopenia	1	FARS2 CL E G H	10667	21062	OMIM:614946	Combined oxidative phosphorylation deficiency 14	HP:0040283 - Occasional		36
HP:0011873	HP:0001873	Thrombocytopenia	1	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome			59
HP:0011873	HP:0001873	Thrombocytopenia	1	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome			59
HP:0011873	HP:0001873	Thrombocytopenia	1	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome			37
HP:0011873	HP:0001873	Thrombocytopenia	1	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome			37
HP:0011873	HP:0001873	Thrombocytopenia	1	FCGR2A CL E G H	2212	3616	OMIM:152700	Systemic lupus erythematosus	.		6
HP:0011873	HP:0001873	Thrombocytopenia	1	FCGR2B CL E G H	2213	3618	OMIM:152700	Systemic lupus erythematosus	.		2
HP:0011873	HP:0001873	Thrombocytopenia	1	FCGR2C CL E G H	9103	15626	ORPHA:3002	Immune thrombocytopenia	HP:0040281 - Very frequent
HP:0011873	HP:0001873	Thrombocytopenia	1	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		4
HP:0011873	HP:0001873	Thrombocytopenia	1	FLI1 CL E G H	2313	3749	OMIM:617443	Bleeding disorder, platelet-type, 21	HP:0040284 - Very rare		8
HP:0011873	HP:0001873	Thrombocytopenia	1	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040281 - Very frequent		8
HP:0011873	HP:0001873	Thrombocytopenia	1	FLNA CL E G H	2316	3754	OMIM:300048	Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked	.		493
HP:0011873	HP:0001873	Thrombocytopenia	1	FLT1 CL E G H	2321	3763	ORPHA:275555	Preeclampsia	HP:0040284 - Very rare		11
HP:0011873	HP:0001873	Thrombocytopenia	1	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0011873	HP:0001873	Thrombocytopenia	1	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome			32
HP:0011873	HP:0001873	Thrombocytopenia	1	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked			32
HP:0011873	HP:0001873	Thrombocytopenia	1	FYB1 CL E G H	2533	4036	OMIM:273900	THROMBOCYTOPENIA 3; THC3			4
HP:0011873	HP:0001873	Thrombocytopenia	1	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive	.		37
HP:0011873	HP:0001873	Thrombocytopenia	1	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease			160
HP:0011873	HP:0001873	Thrombocytopenia	1	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:0011873	HP:0001873	Thrombocytopenia	1	GATA1 CL E G H	2623	4170	ORPHA:231393	Beta-thalassemia-X-linked thrombocytopenia syndrome	HP:0040281 - Very frequent		29
HP:0011873	HP:0001873	Thrombocytopenia	1	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		29
HP:0011873	HP:0001894	Thrombocytosis	1	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		29
HP:0011873	HP:0001873	Thrombocytopenia	1	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040283 - Occasional		29
HP:0011873	HP:0001873	Thrombocytopenia	1	GATA1 CL E G H	2623	4170	OMIM:314050	Thrombocytopenia with beta-thalassemia, X-linked	.		29
HP:0011873	HP:0001873	Thrombocytopenia	1	GATA1 CL E G H	2623	4170	ORPHA:67044	Thrombocytopenia with congenital dyserythropoietic anemia			29
HP:0011873	HP:0001873	Thrombocytopenia	1	GATA1 CL E G H	2623	4170	OMIM:300367	Thrombocytopenia, X-linked, with or without dyserythropoietic anemia			29
HP:0011873	HP:0001873	Thrombocytopenia	1	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome	HP:0040281 - Very frequent		137
HP:0011873	HP:0001873	Thrombocytopenia	1	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease	HP:0040281 - Very frequent
HP:0011873	HP:0001873	Thrombocytopenia	1	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1	HP:0040281 - Very frequent
HP:0011873	HP:0001873	Thrombocytopenia	1	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3	HP:0040282 - Frequent
HP:0011873	HP:0001873	Thrombocytopenia	1	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal	.
HP:0011873	HP:0001873	Thrombocytopenia	1	GBA1 CL E G H	2629	4177	OMIM:230800	Gaucher disease, type I	.
HP:0011873	HP:0001873	Thrombocytopenia	1	GBA1 CL E G H	2629	4177	OMIM:230900	Gaucher disease, type II	.
HP:0011873	HP:0001873	Thrombocytopenia	1	GBA1 CL E G H	2629	4177	OMIM:231000	Gaucher disease, type III	.
HP:0011873	HP:0001873	Thrombocytopenia	1	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040282 - Frequent
HP:0011873	HP:0001873	Thrombocytopenia	1	GFI1B CL E G H	8328	4238	OMIM:187900	Bleeding disorder, platelet-type, 17	.		3
HP:0011873	HP:0001873	Thrombocytopenia	1	GIMAP5 CL E G H	55340	18005	OMIM:619463	PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0011873	HP:0001873	Thrombocytopenia	1	GNA14 CL E G H	9630	4382	ORPHA:1063	Tufted angioma	HP:0040283 - Occasional
HP:0011873	HP:0001873	Thrombocytopenia	1	GP1BA CL E G H	2811	4439	ORPHA:274	Bernard-Soulier syndrome			23
HP:0011873	HP:0001873	Thrombocytopenia	1	GP1BA CL E G H	2811	4439	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS			23
HP:0011873	HP:0001873	Thrombocytopenia	1	GP1BA CL E G H	2811	4439	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			23
HP:0011873	HP:0001873	Thrombocytopenia	1	GP1BA CL E G H	2811	4439	OMIM:177820	Pseudo-Von willebrand disease			23
HP:0011873	HP:0001873	Thrombocytopenia	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		8
HP:0011873	HP:0001873	Thrombocytopenia	1	GP1BB CL E G H	2812	4440	ORPHA:274	Bernard-Soulier syndrome			8
HP:0011873	HP:0001873	Thrombocytopenia	1	GP1BB CL E G H	2812	4440	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS			8
HP:0011873	HP:0001873	Thrombocytopenia	1	GP1BB CL E G H	2812	4440	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			8
HP:0011873	HP:0001873	Thrombocytopenia	1	GP9 CL E G H	2815	4444	ORPHA:274	Bernard-Soulier syndrome			21
HP:0011873	HP:0001873	Thrombocytopenia	1	GP9 CL E G H	2815	4444	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS			21
HP:0011873	HP:0001873	Thrombocytopenia	1	GUCY1A1 CL E G H	2982	4685	ORPHA:401945	Moyamoya disease with early-onset achalasia	HP:0040283 - Occasional
HP:0011873	HP:0001894	Thrombocytosis	1	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia	HP:0040282 - Frequent		580
HP:0011873	HP:0001873	Thrombocytopenia	1	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0011873	HP:0001873	Thrombocytopenia	1	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome	HP:0040280 - Obligate
HP:0011873	HP:0001873	Thrombocytopenia	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		3
HP:0011873	HP:0001873	Thrombocytopenia	1	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional		4
HP:0011873	HP:0001894	Thrombocytosis	1	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0011873	HP:0001894	Thrombocytosis	1	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0011873	HP:0001873	Thrombocytopenia	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040282 - Frequent		2
HP:0011873	HP:0001873	Thrombocytopenia	1	HLCS CL E G H	3141	4976	ORPHA:79242	Holocarboxylase synthetase deficiency	HP:0040283 - Occasional		148
HP:0011873	HP:0001873	Thrombocytopenia	1	HLCS CL E G H	3141	4976	OMIM:253270	Holocarboxylase synthetase deficiency	.		148
HP:0011873	HP:0001894	Thrombocytosis	1	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040283 - Occasional		35
HP:0011873	HP:0001894	Thrombocytosis	1	HMOX1 CL E G H	3162	5013	OMIM:614034	HEME OXYGENASE 1 DEFICIENCY; HMOX1D			3
HP:0011873	HP:0001873	Thrombocytopenia	1	HOXA11 CL E G H	3207	5101	ORPHA:71289	Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome			3
HP:0011873	HP:0001873	Thrombocytopenia	1	HOXA11 CL E G H	3207	5101	OMIM:605432	Radioulnar synostosis with amegakaryocytic thrombocytopenia			3
HP:0011873	HP:0001873	Thrombocytopenia	1	HSCB CL E G H	150274	28913	OMIM:619523	ANEMIA, SIDEROBLASTIC, 5; SIDBA5
HP:0011873	HP:0001873	Thrombocytopenia	1	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency			32
HP:0011873	HP:0001873	Thrombocytopenia	1	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome			28
HP:0011873	HP:0001873	Thrombocytopenia	1	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7	HP:0040283 - Occasional		28
HP:0011873	HP:0001873	Thrombocytopenia	1	IFNG CL E G H	3458	5438	ORPHA:88	Idiopathic aplastic anemia	HP:0040283 - Occasional		23
HP:0011873	HP:0001894	Thrombocytosis	1	IFNG CL E G H	3458	5438	OMIM:618963	IMMUNODEFICIENCY 69; IMD69			23
HP:0011873	HP:0001894	Thrombocytosis	1	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR			60
HP:0011873	HP:0001873	Thrombocytopenia	1	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional		8
HP:0011873	HP:0001873	Thrombocytopenia	1	IKZF5 CL E G H	64376	14283	OMIM:619130	THROMBOCYTOPENIA 7; THC7
HP:0011873	HP:0001873	Thrombocytopenia	1	IL6ST CL E G H	3572	6021	OMIM:619751	STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0011873	HP:0001873	Thrombocytopenia	1	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency			94
HP:0011873	HP:0001873	Thrombocytopenia	1	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040282 - Frequent
HP:0011873	HP:0001873	Thrombocytopenia	1	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		4
HP:0011873	HP:0001873	Thrombocytopenia	1	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency			4
HP:0011873	HP:0001873	Thrombocytopenia	1	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B			5
HP:0011873	HP:0001873	Thrombocytopenia	1	ITGA2 CL E G H	3673	6137	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			119
HP:0011873	HP:0001873	Thrombocytopenia	1	ITGA2B CL E G H	3674	6138	OMIM:187800	Bleeding disorder, platelet-type, 16			69
HP:0011873	HP:0001873	Thrombocytopenia	1	ITGA2B CL E G H	3674	6138	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			69
HP:0011873	HP:0001873	Thrombocytopenia	1	ITGB3 CL E G H	3690	6156	OMIM:619271	BLEEDING DISORDER, PLATELET-TYPE, 24; BDPLT24			80
HP:0011873	HP:0001873	Thrombocytopenia	1	ITGB3 CL E G H	3690	6156	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			80
HP:0011873	HP:0001873	Thrombocytopenia	1	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1			51
HP:0011873	HP:0001873	Thrombocytopenia	1	IVD CL E G H	3712	6186	OMIM:243500	Isovaleric acidemia	.		105
HP:0011873	HP:0001894	Thrombocytosis	1	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis	HP:0040281 - Very frequent		57
HP:0011873	HP:0001894	Thrombocytosis	1	JAK2 CL E G H	3717	6192	OMIM:263300	Polycythemia vera	.		57
HP:0011873	HP:0001894	Thrombocytosis	1	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional		57
HP:0011873	HP:0001873	Thrombocytopenia	1	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis	HP:0040282 - Frequent		57
HP:0011873	HP:0001894	Thrombocytosis	1	JAK2 CL E G H	3717	6192	OMIM:614521	Thrombocythemia 3	.		57
HP:0011873	HP:0001873	Thrombocytopenia	1	JAM2 CL E G H	58494	14686	ORPHA:1980	Bilateral striopallidodentate calcinosis	HP:0040281 - Very frequent
HP:0011873	HP:0001873	Thrombocytopenia	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		2
HP:0011873	HP:0001873	Thrombocytopenia	1	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1			53
HP:0011873	HP:0001873	Thrombocytopenia	1	KIF15 CL E G H	56992	17273	OMIM:619981
HP:0011873	HP:0001873	Thrombocytopenia	1	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040281 - Very frequent
HP:0011873	HP:0001873	Thrombocytopenia	1	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent		327
HP:0011873	HP:0001873	Thrombocytopenia	1	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1			660
HP:0011873	HP:0001873	Thrombocytopenia	1	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic			196
HP:0011873	HP:0001894	Thrombocytosis	1	LACC1 CL E G H	144811	26789	OMIM:618795	JUVENILE ARTHRITIS; JUVAR			1
HP:0011873	HP:0001873	Thrombocytopenia	1	LARS2 CL E G H	23395	17095	OMIM:617021	Hydrops, lactic acidosis, and sideroblastic anemia	.		54
HP:0011873	HP:0001873	Thrombocytopenia	1	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52			2
HP:0011873	HP:0001873	Thrombocytopenia	1	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly			70
HP:0011873	HP:0001873	Thrombocytopenia	1	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional		88
HP:0011873	HP:0001873	Thrombocytopenia	1	LIG4 CL E G H	3981	6601	OMIM:606593	Lig4 syndrome	.		88
HP:0011873	HP:0001873	Thrombocytopenia	1	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency			73
HP:0011873	HP:0001873	Thrombocytopenia	1	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type	.		46
HP:0011873	HP:0001873	Thrombocytopenia	1	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8			45
HP:0011873	HP:0001873	Thrombocytopenia	1	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0011873	HP:0001873	Thrombocytopenia	1	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040283 - Occasional		239
HP:0011873	HP:0001873	Thrombocytopenia	1	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome			239
HP:0011873	HP:0001873	Thrombocytopenia	1	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		1
HP:0011873	HP:0001873	Thrombocytopenia	1	MAD2L2 CL E G H	10459	6764	OMIM:617243	Fanconi anemia, complementation group V	.		1
HP:0011873	HP:0001873	Thrombocytopenia	1	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0011873	HP:0001873	Thrombocytopenia	1	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH			5
HP:0011873	HP:0001873	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:0011873	HP:0001873	Thrombocytopenia	1	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0011873	HP:0001894	Thrombocytosis	1	MARS1 CL E G H	4141	6898	OMIM:615486	Interstitial lung and liver disease
HP:0011873	HP:0001873	Thrombocytopenia	1	MECOM CL E G H	2122	3498	ORPHA:71289	Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome			4
HP:0011873	HP:0001873	Thrombocytopenia	1	MECOM CL E G H	2122	3498	OMIM:616738	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2			4
HP:0011873	HP:0001873	Thrombocytopenia	1	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0011873	HP:0001873	Thrombocytopenia	1	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type	.		113
HP:0011873	HP:0001873	Thrombocytopenia	1	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type	.		127
HP:0011873	HP:0001873	Thrombocytopenia	1	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040282 - Frequent		101
HP:0011873	HP:0001873	Thrombocytopenia	1	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.		101
HP:0011873	HP:0001873	Thrombocytopenia	1	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency	.
HP:0011873	HP:0001873	Thrombocytopenia	1	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-	HP:0040283 - Occasional
HP:0011873	HP:0001873	Thrombocytopenia	1	MMUT CL E G H	4594	7526	ORPHA:289916	Vitamin B12-unresponsive methylmalonic acidemia type mut0	HP:0040282 - Frequent
HP:0011873	HP:0001873	Thrombocytopenia	1	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG	HP:0040283 - Occasional		37
HP:0011873	HP:0001873	Thrombocytopenia	1	MPIG6B CL E G H	80739	13937	OMIM:617441	Thrombocytopenia, anemia, and myelofibrosis	.		1
HP:0011873	HP:0001873	Thrombocytopenia	1	MPL CL E G H	4352	7217	OMIM:604498	Amegakaryocytic thrombocytopenia, congenital	.		97
HP:0011873	HP:0001873	Thrombocytopenia	1	MPL CL E G H	4352	7217	ORPHA:3319	Congenital amegakaryocytic thrombocytopenia	HP:0040281 - Very frequent		97
HP:0011873	HP:0001894	Thrombocytosis	1	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis	HP:0040281 - Very frequent		97
HP:0011873	HP:0001873	Thrombocytopenia	1	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis	HP:0040282 - Frequent		97
HP:0011873	HP:0001894	Thrombocytosis	1	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional		97
HP:0011873	HP:0001894	Thrombocytosis	1	MPL CL E G H	4352	7217	OMIM:601977	THROMBOCYTHEMIA 2; THCYT2			97
HP:0011873	HP:0001873	Thrombocytopenia	1	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency			1
HP:0011873	HP:0001894	Thrombocytosis	1	MTHFD1 CL E G H	4522	7432	OMIM:617780	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia	.		5
HP:0011873	HP:0001873	Thrombocytopenia	1	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome	.		68
HP:0011873	HP:0001873	Thrombocytopenia	1	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria			150
HP:0011873	HP:0001873	Thrombocytopenia	1	MYH9 CL E G H	4627	7579	OMIM:155100	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	.		297
HP:0011873	HP:0001873	Thrombocytopenia	1	MYH9 CL E G H	4627	7579	ORPHA:182050	MYH9-related disease			297
HP:0011873	HP:0001873	Thrombocytopenia	1	MYORG CL E G H	57462	19918	ORPHA:1980	Bilateral striopallidodentate calcinosis	HP:0040281 - Very frequent
HP:0011873	HP:0001873	Thrombocytopenia	1	MYSM1 CL E G H	114803	29401	OMIM:618116	Bone marrow failure syndrome 4	HP:0040284 - Very rare
HP:0011873	HP:0001873	Thrombocytopenia	1	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome	HP:0040282 - Frequent
HP:0011873	HP:0001873	Thrombocytopenia	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0011873	HP:0001873	Thrombocytopenia	1	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0011873	HP:0001873	Thrombocytopenia	1	NBEAL2 CL E G H	23218	31928	OMIM:139090	Gray platelet syndrome	.		127
HP:0011873	HP:0001873	Thrombocytopenia	1	NBEAL2 CL E G H	23218	31928	ORPHA:721	Gray platelet syndrome	HP:0040281 - Very frequent		127
HP:0011873	HP:0001873	Thrombocytopenia	1	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome	.		706
HP:0011873	HP:0001873	Thrombocytopenia	1	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome	HP:0040281 - Very frequent		706
HP:0011873	HP:0001873	Thrombocytopenia	1	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency			7
HP:0011873	HP:0001873	Thrombocytopenia	1	NFKB1 CL E G H	4790	7794	OMIM:616576	IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12			7
HP:0011873	HP:0001873	Thrombocytopenia	1	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency			11
HP:0011873	HP:0001873	Thrombocytopenia	1	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome			11
HP:0011873	HP:0001873	Thrombocytopenia	1	NHEJ1 CL E G H	79840	25737	ORPHA:169079	Cernunnos-XLF deficiency	HP:0040282 - Frequent		20
HP:0011873	HP:0001873	Thrombocytopenia	1	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		27
HP:0011873	HP:0001873	Thrombocytopenia	1	NHP2 CL E G H	55651	14377	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1	.		27
HP:0011873	HP:0001873	Thrombocytopenia	1	NHP2 CL E G H	55651	14377	OMIM:613987	Dyskeratosis congenita, autosomal recessive, 2	.		27
HP:0011873	HP:0001873	Thrombocytopenia	1	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.		494
HP:0011873	HP:0001873	Thrombocytopenia	1	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC			30
HP:0011873	HP:0001873	Thrombocytopenia	1	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		17
HP:0011873	HP:0001873	Thrombocytopenia	1	NOP10 CL E G H	55505	14378	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1	.		17
HP:0011873	HP:0001873	Thrombocytopenia	1	NOS3 CL E G H	4846	7876	OMIM:189800	Preeclampsia/eclampsia 1	.		8
HP:0011873	HP:0001873	Thrombocytopenia	1	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		452
HP:0011873	HP:0001873	Thrombocytopenia	1	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		12
HP:0011873	HP:0001873	Thrombocytopenia	1	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		12
HP:0011873	HP:0001873	Thrombocytopenia	1	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic			102
HP:0011873	HP:0001873	Thrombocytopenia	1	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional		84
HP:0011873	HP:0001873	Thrombocytopenia	1	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0011873	HP:0001873	Thrombocytopenia	1	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria	.		23
HP:0011873	HP:0001873	Thrombocytopenia	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040282 - Frequent		88
HP:0011873	HP:0001873	Thrombocytopenia	1	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5	.		73
HP:0011873	HP:0001873	Thrombocytopenia	1	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0011873	HP:0001873	Thrombocytopenia	1	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		1349
HP:0011873	HP:0001873	Thrombocytopenia	1	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		26
HP:0011873	HP:0001873	Thrombocytopenia	1	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent		26
HP:0011873	HP:0001873	Thrombocytopenia	1	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia	.		96
HP:0011873	HP:0001873	Thrombocytopenia	1	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia	.		92
HP:0011873	HP:0001873	Thrombocytopenia	1	PDGFB CL E G H	5155	8800	ORPHA:1980	Bilateral striopallidodentate calcinosis	HP:0040281 - Very frequent		9
HP:0011873	HP:0001873	Thrombocytopenia	1	PDGFRB CL E G H	5159	8804	ORPHA:1980	Bilateral striopallidodentate calcinosis	HP:0040281 - Very frequent		28
HP:0011873	HP:0001873	Thrombocytopenia	1	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency			66
HP:0011873	HP:0001873	Thrombocytopenia	1	PHGDH CL E G H	26227	8923	OMIM:601815	Phosphoglycerate dehydrogenase deficiency	.		37
HP:0011873	HP:0001873	Thrombocytopenia	1	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH			46
HP:0011873	HP:0001873	Thrombocytopenia	1	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria	HP:0040283 - Occasional		46
HP:0011873	HP:0001894	Thrombocytosis	1	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B			9
HP:0011873	HP:0001873	Thrombocytopenia	1	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97			2
HP:0011873	HP:0001873	Thrombocytopenia	1	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040283 - Occasional		563
HP:0011873	HP:0001873	Thrombocytopenia	1	PLAU CL E G H	5328	9052	OMIM:601709	Quebec platelet disorder	.		50
HP:0011873	HP:0001873	Thrombocytopenia	1	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		3
HP:0011873	HP:0001894	Thrombocytosis	1	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia	.		150
HP:0011873	HP:0001873	Thrombocytopenia	1	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency			52
HP:0011873	HP:0001873	Thrombocytopenia	1	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency			52
HP:0011873	HP:0001873	Thrombocytopenia	1	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0011873	HP:0001873	Thrombocytopenia	1	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2	.		2
HP:0011873	HP:0001873	Thrombocytopenia	1	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0011873	HP:0001873	Thrombocytopenia	1	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.
HP:0011873	HP:0001873	Thrombocytopenia	1	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040281 - Very frequent		58
HP:0011873	HP:0001873	Thrombocytopenia	1	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2			58
HP:0011873	HP:0001873	Thrombocytopenia	1	PRF1 CL E G H	5551	9360	ORPHA:88	Idiopathic aplastic anemia	HP:0040283 - Occasional		58
HP:0011873	HP:0001873	Thrombocytopenia	1	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0011873	HP:0001873	Thrombocytopenia	1	PRKACG CL E G H	5568	9382	OMIM:616176	Bleeding disorder, platelet-type, 19			2
HP:0011873	HP:0001873	Thrombocytopenia	1	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		134
HP:0011873	HP:0001873	Thrombocytopenia	1	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome			10
HP:0011873	HP:0001873	Thrombocytopenia	1	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3			10
HP:0011873	HP:0001873	Thrombocytopenia	1	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency			10
HP:0011873	HP:0001873	Thrombocytopenia	1	PSAP CL E G H	5660	9498	OMIM:610539	Gaucher disease, atypical			81
HP:0011873	HP:0001873	Thrombocytopenia	1	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3	.
HP:0011873	HP:0001873	Thrombocytopenia	1	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0011873	HP:0001873	Thrombocytopenia	1	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3	.
HP:0011873	HP:0001894	Thrombocytosis	1	PSTPIP1 CL E G H	9051	9580	OMIM:604416	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne			96
HP:0011873	HP:0001873	Thrombocytopenia	1	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0011873	HP:0001873	Thrombocytopenia	1	PTPN22 CL E G H	26191	9652	OMIM:152700	Systemic lupus erythematosus	.		3
HP:0011873	HP:0001873	Thrombocytopenia	1	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		9
HP:0011873	HP:0001873	Thrombocytopenia	1	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		391
HP:0011873	HP:0001873	Thrombocytopenia	1	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome	.		127
HP:0011873	HP:0001873	Thrombocytopenia	1	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040283 - Occasional		127
HP:0011873	HP:0001873	Thrombocytopenia	1	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome	.		50
HP:0011873	HP:0001873	Thrombocytopenia	1	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040283 - Occasional		50
HP:0011873	HP:0001873	Thrombocytopenia	1	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		2
HP:0011873	HP:0001873	Thrombocytopenia	1	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0011873	HP:0001873	Thrombocytopenia	1	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0011873	HP:0001873	Thrombocytopenia	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0011873	HP:0001873	Thrombocytopenia	1	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome	HP:0040281 - Very frequent		10
HP:0011873	HP:0001873	Thrombocytopenia	1	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		3
HP:0011873	HP:0001894	Thrombocytosis	1	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92			1
HP:0011873	HP:0001873	Thrombocytopenia	1	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent
HP:0011873	HP:0001873	Thrombocytopenia	1	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II			38
HP:0011873	HP:0001873	Thrombocytopenia	1	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II			26
HP:0011873	HP:0001873	Thrombocytopenia	1	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II			34
HP:0011873	HP:0001873	Thrombocytopenia	1	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome			33
HP:0011873	HP:0001873	Thrombocytopenia	1	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4			33
HP:0011873	HP:0001873	Thrombocytopenia	1	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome			34
HP:0011873	HP:0001873	Thrombocytopenia	1	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome			60
HP:0011873	HP:0001873	Thrombocytopenia	1	RNASEH2C CL E G H	84153	24116	OMIM:610329	Aicardi-Goutieres syndrome 3			60
HP:0011873	HP:0001873	Thrombocytopenia	1	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0011873	HP:0001894	Thrombocytosis	1	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		22
HP:0011873	HP:0001873	Thrombocytopenia	1	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		22
HP:0011873	HP:0001873	Thrombocytopenia	1	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		3
HP:0011873	HP:0001894	Thrombocytosis	1	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		3
HP:0011873	HP:0001873	Thrombocytopenia	1	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0011873	HP:0001894	Thrombocytosis	1	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0011873	HP:0001894	Thrombocytosis	1	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		3
HP:0011873	HP:0001873	Thrombocytopenia	1	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		3
HP:0011873	HP:0001873	Thrombocytopenia	1	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		1
HP:0011873	HP:0001894	Thrombocytosis	1	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		1
HP:0011873	HP:0001894	Thrombocytosis	1	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0011873	HP:0001873	Thrombocytopenia	1	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0011873	HP:0001894	Thrombocytosis	1	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0011873	HP:0001873	Thrombocytopenia	1	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0011873	HP:0001894	Thrombocytosis	1	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		11
HP:0011873	HP:0001873	Thrombocytopenia	1	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		11
HP:0011873	HP:0001873	Thrombocytopenia	1	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		40
HP:0011873	HP:0001894	Thrombocytosis	1	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		40
HP:0011873	HP:0001894	Thrombocytosis	1	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		26
HP:0011873	HP:0001873	Thrombocytopenia	1	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		26
HP:0011873	HP:0001894	Thrombocytosis	1	RPS14 CL E G H	6208	10387	ORPHA:86841	Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality	HP:0040282 - Frequent
HP:0011873	HP:0001873	Thrombocytopenia	1	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0011873	HP:0001894	Thrombocytosis	1	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0011873	HP:0001894	Thrombocytosis	1	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		5
HP:0011873	HP:0001873	Thrombocytopenia	1	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		5
HP:0011873	HP:0001873	Thrombocytopenia	1	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		42
HP:0011873	HP:0001894	Thrombocytosis	1	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		42
HP:0011873	HP:0001873	Thrombocytopenia	1	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1			42
HP:0011873	HP:0001894	Thrombocytosis	1	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1			42
HP:0011873	HP:0001873	Thrombocytopenia	1	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		1
HP:0011873	HP:0001894	Thrombocytosis	1	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		1
HP:0011873	HP:0001873	Thrombocytopenia	1	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		22
HP:0011873	HP:0001894	Thrombocytosis	1	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		22
HP:0011873	HP:0001894	Thrombocytosis	1	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		20
HP:0011873	HP:0001873	Thrombocytopenia	1	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		20
HP:0011873	HP:0001894	Thrombocytosis	1	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		1
HP:0011873	HP:0001873	Thrombocytopenia	1	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		1
HP:0011873	HP:0001873	Thrombocytopenia	1	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		1
HP:0011873	HP:0001894	Thrombocytosis	1	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		1
HP:0011873	HP:0001873	Thrombocytopenia	1	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		3
HP:0011873	HP:0001894	Thrombocytosis	1	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		3
HP:0011873	HP:0001873	Thrombocytopenia	1	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		20
HP:0011873	HP:0001894	Thrombocytosis	1	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		20
HP:0011873	HP:0001894	Thrombocytosis	1	RPSA CL E G H	3921	6502	OMIM:271400	Asplenia, isolated congenital	HP:0040283 - Occasional		9
HP:0011873	HP:0001873	Thrombocytopenia	1	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12			1
HP:0011873	HP:0001873	Thrombocytopenia	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0011873	HP:0001873	Thrombocytopenia	1	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		77
HP:0011873	HP:0001873	Thrombocytopenia	1	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent		77
HP:0011873	HP:0001873	Thrombocytopenia	1	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional		181
HP:0011873	HP:0001894	Thrombocytosis	1	RUNX1 CL E G H	861	10471	ORPHA:521	Chronic myeloid leukemia	HP:0040282 - Frequent		181
HP:0011873	HP:0001873	Thrombocytopenia	1	RUNX1 CL E G H	861	10471	ORPHA:521	Chronic myeloid leukemia	HP:0040282 - Frequent		181
HP:0011873	HP:0001873	Thrombocytopenia	1	RUNX1 CL E G H	861	10471	OMIM:601399	Platelet disorder, familial, with associated myeloid malignancy	.		181
HP:0011873	HP:0001873	Thrombocytopenia	1	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia	HP:0040284 - Very rare		1200
HP:0011873	HP:0001873	Thrombocytopenia	1	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome			86
HP:0011873	HP:0001873	Thrombocytopenia	1	SALL4 CL E G H	57167	15924	ORPHA:2307	IVIC syndrome	HP:0040283 - Occasional		86
HP:0011873	HP:0001873	Thrombocytopenia	1	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome	.		8
HP:0011873	HP:0001873	Thrombocytopenia	1	SAMD9 CL E G H	54809	1348	OMIM:619041	MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2; M7MLS2			8
HP:0011873	HP:0001873	Thrombocytopenia	1	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome			4
HP:0011873	HP:0001873	Thrombocytopenia	1	SAMD9L CL E G H	219285	1349	OMIM:252270	Myelodysplasia and leukemia syndrome with monosomy 7	.		4
HP:0011873	HP:0001873	Thrombocytopenia	1	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome			55
HP:0011873	HP:0001873	Thrombocytopenia	1	SAMHD1 CL E G H	25939	15925	OMIM:612952	Aicardi-Goutieres syndrome 5	.		55
HP:0011873	HP:0001873	Thrombocytopenia	1	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome	.		60
HP:0011873	HP:0001873	Thrombocytopenia	1	SASH3 CL E G H	54440	15975	OMIM:301082				1
HP:0011873	HP:0001873	Thrombocytopenia	1	SBDS CL E G H	51119	19440	ORPHA:88	Idiopathic aplastic anemia	HP:0040283 - Occasional		26
HP:0011873	HP:0001873	Thrombocytopenia	1	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent		26
HP:0011873	HP:0001873	Thrombocytopenia	1	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1	.		26
HP:0011873	HP:0001873	Thrombocytopenia	1	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis	HP:0040282 - Frequent		80
HP:0011873	HP:0001873	Thrombocytopenia	1	SCARB2 CL E G H	950	1665	OMIM:254900	Epilepsy, progressive myoclonic, 4, with or without renal failure	.		77
HP:0011873	HP:0001873	Thrombocytopenia	1	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1	HP:0040281 - Very frequent		77
HP:0011873	HP:0001873	Thrombocytopenia	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0011873	HP:0001894	Thrombocytosis	1	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040284 - Very rare		19
HP:0011873	HP:0001873	Thrombocytopenia	1	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040283 - Occasional		19
HP:0011873	HP:0001894	Thrombocytosis	1	SH2B3 CL E G H	10019	29605	OMIM:187950	THROMBOCYTHEMIA 1; THCYT1			4
HP:0011873	HP:0001873	Thrombocytopenia	1	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1	.		37
HP:0011873	HP:0001894	Thrombocytosis	1	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040283 - Occasional
HP:0011873	HP:0001894	Thrombocytosis	1	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040283 - Occasional
HP:0011873	HP:0001894	Thrombocytosis	1	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	HP:0040283 - Occasional
HP:0011873	HP:0001873	Thrombocytopenia	1	SLC19A2 CL E G H	10560	10938	ORPHA:49827	Thiamine-responsive megaloblastic anemia syndrome	HP:0040282 - Frequent		55
HP:0011873	HP:0001873	Thrombocytopenia	1	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome	.		55
HP:0011873	HP:0001873	Thrombocytopenia	1	SLC20A2 CL E G H	6575	10947	ORPHA:1980	Bilateral striopallidodentate calcinosis	HP:0040281 - Very frequent		70
HP:0011873	HP:0001873	Thrombocytopenia	1	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf			24
HP:0011873	HP:0001873	Thrombocytopenia	1	SLC35A1 CL E G H	10559	11021	ORPHA:238459	SLC35A1-CDG	HP:0040281 - Very frequent		24
HP:0011873	HP:0001873	Thrombocytopenia	1	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0011873	HP:0001873	Thrombocytopenia	1	SLC39A7 CL E G H	7922	4927	OMIM:619693	AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9
HP:0011873	HP:0001873	Thrombocytopenia	1	SLC46A1 CL E G H	113235	30521	OMIM:229050	Folate malabsorption, hereditary	.		101
HP:0011873	HP:0001873	Thrombocytopenia	1	SLC46A1 CL E G H	113235	30521	ORPHA:90045	Hereditary folate malabsorption	HP:0040283 - Occasional		101
HP:0011873	HP:0001873	Thrombocytopenia	1	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance	.		104
HP:0011873	HP:0001873	Thrombocytopenia	1	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040282 - Frequent		104
HP:0011873	HP:0001873	Thrombocytopenia	1	SLFN14 CL E G H	342618	32689	OMIM:616913	Bleeding disorder, platelet-type, 20	.		6
HP:0011873	HP:0001873	Thrombocytopenia	1	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		274
HP:0011873	HP:0001873	Thrombocytopenia	1	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type	.		74
HP:0011873	HP:0001873	Thrombocytopenia	1	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040283 - Occasional		74
HP:0011873	HP:0001873	Thrombocytopenia	1	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2			3
HP:0011873	HP:0001873	Thrombocytopenia	1	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B	HP:0040282 - Frequent		164
HP:0011873	HP:0001873	Thrombocytopenia	1	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B			164
HP:0011873	HP:0001873	Thrombocytopenia	1	SNX10 CL E G H	29887	14974	OMIM:615085	Osteopetrosis, autosomal recessive 8	.		2
HP:0011873	HP:0001873	Thrombocytopenia	1	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD			6
HP:0011873	HP:0001873	Thrombocytopenia	1	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0011873	HP:0001873	Thrombocytopenia	1	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome	HP:0040283 - Occasional		49
HP:0011873	HP:0001873	Thrombocytopenia	1	SPATA5 CL E G H	166378	18119	OMIM:616577	Epilepsy, hearing loss, and mental retardation syndrome	HP:0040283 - Occasional		19
HP:0011873	HP:0001873	Thrombocytopenia	1	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:0011873	HP:0001873	Thrombocytopenia	1	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040282 - Frequent
HP:0011873	HP:0001873	Thrombocytopenia	1	SRC CL E G H	6714	11283	OMIM:616937	Thrombocytopenia 6			15
HP:0011873	HP:0001873	Thrombocytopenia	1	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent
HP:0011873	HP:0001873	Thrombocytopenia	1	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1	.
HP:0011873	HP:0001873	Thrombocytopenia	1	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional		1
HP:0011873	HP:0001873	Thrombocytopenia	1	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent		1
HP:0011873	HP:0001873	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:0011873	HP:0001873	Thrombocytopenia	1	STAT2 CL E G H	6773	11363	OMIM:618886	PSEUDO-TORCH SYNDROME 3; PTORCH3			9
HP:0011873	HP:0001873	Thrombocytopenia	1	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		110
HP:0011873	HP:0001873	Thrombocytopenia	1	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1			110
HP:0011873	HP:0001873	Thrombocytopenia	1	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040282 - Frequent		2
HP:0011873	HP:0001873	Thrombocytopenia	1	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		12
HP:0011873	HP:0001873	Thrombocytopenia	1	STIM1 CL E G H	6786	11386	OMIM:612783	Immunodeficiency 10	.		31
HP:0011873	HP:0001873	Thrombocytopenia	1	STIM1 CL E G H	6786	11386	OMIM:185070	Stormorken syndrome	.		31
HP:0011873	HP:0001894	Thrombocytosis	1	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0011873	HP:0001873	Thrombocytopenia	1	STOX1 CL E G H	219736	23508	ORPHA:275555	Preeclampsia	HP:0040284 - Very rare		2
HP:0011873	HP:0001873	Thrombocytopenia	1	STT3B CL E G H	201595	30611	OMIM:615597	Congenital disorder of glycosylation, type Ix	.		18
HP:0011873	HP:0001873	Thrombocytopenia	1	STT3B CL E G H	201595	30611	ORPHA:370924	STT3B-CDG	HP:0040282 - Frequent		18
HP:0011873	HP:0001873	Thrombocytopenia	1	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040281 - Very frequent		85
HP:0011873	HP:0001873	Thrombocytopenia	1	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4			85
HP:0011873	HP:0001873	Thrombocytopenia	1	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040281 - Very frequent		70
HP:0011873	HP:0001873	Thrombocytopenia	1	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5			70
HP:0011873	HP:0001873	Thrombocytopenia	1	TALDO1 CL E G H	6888	11559	ORPHA:101028	Transaldolase deficiency	HP:0040281 - Very frequent		34
HP:0011873	HP:0001873	Thrombocytopenia	1	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency	.		34
HP:0011873	HP:0001894	Thrombocytosis	1	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040284 - Very rare		271
HP:0011873	HP:0001873	Thrombocytopenia	1	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		22
HP:0011873	HP:0001873	Thrombocytopenia	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		32
HP:0011873	HP:0001873	Thrombocytopenia	1	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0011873	HP:0001873	Thrombocytopenia	1	TBXAS1 CL E G H	6916	11609	OMIM:231095	Ghosal hematodiaphyseal dysplasia	.		16
HP:0011873	HP:0001873	Thrombocytopenia	1	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1			82
HP:0011873	HP:0001873	Thrombocytopenia	1	TCN2 CL E G H	6948	11653	ORPHA:859	Transcobalamin deficiency	HP:0040282 - Frequent		57
HP:0011873	HP:0001873	Thrombocytopenia	1	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		48
HP:0011873	HP:0001873	Thrombocytopenia	1	TERC CL E G H	7012	11727	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.		48
HP:0011873	HP:0001873	Thrombocytopenia	1	TERC CL E G H	7012	11727	ORPHA:88	Idiopathic aplastic anemia	HP:0040283 - Occasional		48
HP:0011873	HP:0001873	Thrombocytopenia	1	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		238
HP:0011873	HP:0001873	Thrombocytopenia	1	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2	.		238
HP:0011873	HP:0001873	Thrombocytopenia	1	TERT CL E G H	7015	11730	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.		238
HP:0011873	HP:0001873	Thrombocytopenia	1	TERT CL E G H	7015	11730	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent		238
HP:0011873	HP:0001873	Thrombocytopenia	1	TERT CL E G H	7015	11730	ORPHA:88	Idiopathic aplastic anemia	HP:0040283 - Occasional		238
HP:0011873	HP:0001873	Thrombocytopenia	1	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040283 - Occasional		3
HP:0011873	HP:0001894	Thrombocytosis	1	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040284 - Very rare		3
HP:0011873	HP:0001873	Thrombocytopenia	1	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional		3
HP:0011873	HP:0001894	Thrombocytosis	1	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional		3
HP:0011873	HP:0001873	Thrombocytopenia	1	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis	HP:0040282 - Frequent		3
HP:0011873	HP:0001873	Thrombocytopenia	1	TET2 CL E G H	54790	25941	ORPHA:98826	Refractory anemia	HP:0040284 - Very rare		3
HP:0011873	HP:0001873	Thrombocytopenia	1	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent		3
HP:0011873	HP:0001873	Thrombocytopenia	1	TFRC CL E G H	7037	11763	OMIM:616740	Immunodeficiency 46			1
HP:0011873	HP:0001894	Thrombocytosis	1	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE			13
HP:0011873	HP:0001873	Thrombocytopenia	1	THBD CL E G H	7056	11784	OMIM:612926	Hemolytic uremic syndrome, atypical, susceptibility to, 6	.		60
HP:0011873	HP:0001873	Thrombocytopenia	1	THPO CL E G H	7066	11795	ORPHA:3319	Congenital amegakaryocytic thrombocytopenia	HP:0040281 - Very frequent		23
HP:0011873	HP:0001894	Thrombocytosis	1	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis	HP:0040281 - Very frequent		23
HP:0011873	HP:0001894	Thrombocytosis	1	THPO CL E G H	7066	11795	OMIM:187950	THROMBOCYTHEMIA 1; THCYT1			23
HP:0011873	HP:0001873	Thrombocytopenia	1	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		60
HP:0011873	HP:0001873	Thrombocytopenia	1	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3	.		60
HP:0011873	HP:0001873	Thrombocytopenia	1	TINF2 CL E G H	26277	11824	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.		60
HP:0011873	HP:0001873	Thrombocytopenia	1	TINF2 CL E G H	26277	11824	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent		60
HP:0011873	HP:0001873	Thrombocytopenia	1	TLR7 CL E G H	51284	15631	OMIM:301080
HP:0011873	HP:0001873	Thrombocytopenia	1	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0011873	HP:0001873	Thrombocytopenia	1	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK	.		24
HP:0011873	HP:0001873	Thrombocytopenia	1	TNFAIP3 CL E G H	7128	11896	OMIM:616744	AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL			26
HP:0011873	HP:0001873	Thrombocytopenia	1	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency			32
HP:0011873	HP:0001873	Thrombocytopenia	1	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency			12
HP:0011873	HP:0001873	Thrombocytopenia	1	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2	.		44
HP:0011873	HP:0001873	Thrombocytopenia	1	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency			1
HP:0011873	HP:0001873	Thrombocytopenia	1	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040283 - Occasional
HP:0011873	HP:0001873	Thrombocytopenia	1	TPP2 CL E G H	7174	12016	ORPHA:444463	Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
HP:0011873	HP:0001873	Thrombocytopenia	1	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0011873	HP:0001873	Thrombocytopenia	1	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome			56
HP:0011873	HP:0001873	Thrombocytopenia	1	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1			56
HP:0011873	HP:0001873	Thrombocytopenia	1	TREX1 CL E G H	11277	12269	OMIM:152700	Systemic lupus erythematosus	.		56
HP:0011873	HP:0001873	Thrombocytopenia	1	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		1
HP:0011873	HP:0001894	Thrombocytosis	1	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		1
HP:0011873	HP:0001894	Thrombocytosis	1	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome			26
HP:0011873	HP:0001873	Thrombocytopenia	1	TUBA8 CL E G H	51807	12410	OMIM:619840				21
HP:0011873	HP:0001873	Thrombocytopenia	1	TUBB1 CL E G H	81027	16257	OMIM:613112	Macrothrombocytopenia, autosomal dominant, tubb1-related			3
HP:0011873	HP:0001873	Thrombocytopenia	1	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		1
HP:0011873	HP:0001873	Thrombocytopenia	1	UBA1 CL E G H	7317	12469	OMIM:301054	VEXAS SYNDROME; VEXAS			35
HP:0011873	HP:0001873	Thrombocytopenia	1	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		2
HP:0011873	HP:0001873	Thrombocytopenia	1	UBE2T CL E G H	29089	25009	OMIM:616435	Fanconi anemia, complementation group T	.		2
HP:0011873	HP:0001873	Thrombocytopenia	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0011873	HP:0001873	Thrombocytopenia	1	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040281 - Very frequent		116
HP:0011873	HP:0001873	Thrombocytopenia	1	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0011873	HP:0001873	Thrombocytopenia	1	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040283 - Occasional		41
HP:0011873	HP:0001873	Thrombocytopenia	1	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic	.		41
HP:0011873	HP:0001873	Thrombocytopenia	1	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		8
HP:0011873	HP:0001873	Thrombocytopenia	1	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2	.		2
HP:0011873	HP:0001873	Thrombocytopenia	1	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:0011873	HP:0001873	Thrombocytopenia	1	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0011873	HP:0001873	Thrombocytopenia	1	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1			63
HP:0011873	HP:0001873	Thrombocytopenia	1	VPS45 CL E G H	11311	14579	OMIM:615285	Neutropenia, severe congenital, 5, autosomal recessive	.		7
HP:0011873	HP:0001873	Thrombocytopenia	1	VWF CL E G H	7450	12726	OMIM:613554	Von willebrand disease, type 2	.		533
HP:0011873	HP:0001873	Thrombocytopenia	1	VWF CL E G H	7450	12726	OMIM:277480	Von willebrand disease, type 3	.		533
HP:0011873	HP:0001873	Thrombocytopenia	1	WARS2 CL E G H	10352	12730	OMIM:617710	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures			2
HP:0011873	HP:0001873	Thrombocytopenia	1	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect	HP:0040283 - Occasional		2
HP:0011873	HP:0001873	Thrombocytopenia	1	WAS CL E G H	7454	12731	OMIM:313900	Thrombocytopenia 1			65
HP:0011873	HP:0001873	Thrombocytopenia	1	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040281 - Very frequent		65
HP:0011873	HP:0001873	Thrombocytopenia	1	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome			65
HP:0011873	HP:0001873	Thrombocytopenia	1	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0011873	HP:0001873	Thrombocytopenia	1	WFS1 CL E G H	7466	12762	OMIM:222300	Wolfram syndrome 1	.		389
HP:0011873	HP:0001873	Thrombocytopenia	1	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040281 - Very frequent		6
HP:0011873	HP:0001873	Thrombocytopenia	1	WIPF1 CL E G H	7456	12736	OMIM:614493	WISKOTT-ALDRICH SYNDROME 2; WAS2			6
HP:0011873	HP:0001873	Thrombocytopenia	1	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		40
HP:0011873	HP:0001873	Thrombocytopenia	1	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1	.		81
HP:0011873	HP:0001873	Thrombocytopenia	1	XPR1 CL E G H	9213	12827	ORPHA:1980	Bilateral striopallidodentate calcinosis	HP:0040281 - Very frequent		4
HP:0011873	HP:0001873	Thrombocytopenia	1	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		125
HP:0011873	HP:0001873	Thrombocytopenia	1	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency			46
HP:0011873	HP:0001873	Thrombocytopenia	1	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		1
HP:0011873	HP:0001873	Thrombocytopenia	1	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0011873	HP:0011874	Heparin-induced thrombocytopenia	2	CL E G H
HP:0011873	HP:0004813	Post-transfusion thrombocytopenia	2	CL E G H
HP:0011873	HP:0001973	Autoimmune thrombocytopenia	2	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia	HP:0040283 - Occasional		16
HP:0011873	HP:0001973	Autoimmune thrombocytopenia	2	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation			16
HP:0011873	HP:0001973	Autoimmune thrombocytopenia	2	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:0011873	HP:0004809	Neonatal alloimmune thrombocytopenia	2	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		116
HP:0011873	HP:0001973	Autoimmune thrombocytopenia	2	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62	.
HP:0011873	HP:0004859	Amegakaryocytic thrombocytopenia	2	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1	.		276
HP:0011873	HP:0001973	Autoimmune thrombocytopenia	2	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent		87
HP:0011873	HP:0001973	Autoimmune thrombocytopenia	2	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA	.		87
HP:0011873	HP:0004809	Neonatal alloimmune thrombocytopenia	2	CD109 CL E G H	135228	21685	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040280 - Obligate
HP:0011873	HP:0001973	Autoimmune thrombocytopenia	2	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent		38
HP:0011873	HP:0001973	Autoimmune thrombocytopenia	2	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent		1
HP:0011873	HP:0001973	Autoimmune thrombocytopenia	2	CD81 CL E G H	975	1701	OMIM:613496	Immunodeficiency, common variable, 6			1
HP:0011873	HP:0001973	Autoimmune thrombocytopenia	2	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional		118
HP:0011873	HP:0001973	Autoimmune thrombocytopenia	2	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent		10
HP:0011873	HP:0001973	Autoimmune thrombocytopenia	2	CTLA4 CL E G H	1493	2505	OMIM:616100	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5			10
HP:0011873	HP:0001973	Autoimmune thrombocytopenia	2	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0011873	HP:0040185	Macrothrombocytopenia	2	DIAPH1 CL E G H	1729	2876	OMIM:124900	Deafness, autosomal dominant 1			118
HP:0011873	HP:0001973	Autoimmune thrombocytopenia	2	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent		59
HP:0011873	HP:0001973	Autoimmune thrombocytopenia	2	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome	.		59
HP:0011873	HP:0001973	Autoimmune thrombocytopenia	2	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent		37
HP:0011873	HP:0001973	Autoimmune thrombocytopenia	2	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome	.		37
HP:0011873	HP:0001973	Autoimmune thrombocytopenia	2	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	HP:0040283 - Occasional		32
HP:0011873	HP:0001973	Autoimmune thrombocytopenia	2	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked			32
HP:0011873	HP:0004854	Intermittent thrombocytopenia	2	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive			37
HP:0011873	HP:0001973	Autoimmune thrombocytopenia	2	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease	.		160
HP:0011873	HP:0040185	Macrothrombocytopenia	2	GATA1 CL E G H	2623	4170	ORPHA:67044	Thrombocytopenia with congenital dyserythropoietic anemia	HP:0040281 - Very frequent		29
HP:0011873	HP:0001905	Congenital thrombocytopenia	2	GATA1 CL E G H	2623	4170	OMIM:300367	Thrombocytopenia, X-linked, with or without dyserythropoietic anemia	.		29
HP:0011873	HP:0040185	Macrothrombocytopenia	2	GFI1B CL E G H	8328	4238	OMIM:187900	Bleeding disorder, platelet-type, 17			3
HP:0011873	HP:0040185	Macrothrombocytopenia	2	GP1BA CL E G H	2811	4439	ORPHA:274	Bernard-Soulier syndrome	HP:0040281 - Very frequent		23
HP:0011873	HP:0040185	Macrothrombocytopenia	2	GP1BA CL E G H	2811	4439	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS			23
HP:0011873	HP:0004809	Neonatal alloimmune thrombocytopenia	2	GP1BA CL E G H	2811	4439	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040280 - Obligate		23
HP:0011873	HP:0004854	Intermittent thrombocytopenia	2	GP1BA CL E G H	2811	4439	OMIM:177820	Pseudo-Von willebrand disease	.		23
HP:0011873	HP:0040185	Macrothrombocytopenia	2	GP1BB CL E G H	2812	4440	ORPHA:274	Bernard-Soulier syndrome	HP:0040281 - Very frequent		8
HP:0011873	HP:0040185	Macrothrombocytopenia	2	GP1BB CL E G H	2812	4440	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS			8
HP:0011873	HP:0004809	Neonatal alloimmune thrombocytopenia	2	GP1BB CL E G H	2812	4440	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040280 - Obligate		8
HP:0011873	HP:0040185	Macrothrombocytopenia	2	GP9 CL E G H	2815	4444	ORPHA:274	Bernard-Soulier syndrome	HP:0040281 - Very frequent		21
HP:0011873	HP:0040185	Macrothrombocytopenia	2	GP9 CL E G H	2815	4444	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS			21
HP:0011873	HP:0004859	Amegakaryocytic thrombocytopenia	2	HOXA11 CL E G H	3207	5101	ORPHA:71289	Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome	HP:0040282 - Frequent		3
HP:0011873	HP:0001905	Congenital thrombocytopenia	2	HOXA11 CL E G H	3207	5101	OMIM:605432	Radioulnar synostosis with amegakaryocytic thrombocytopenia	.		3
HP:0011873	HP:0004859	Amegakaryocytic thrombocytopenia	2	HOXA11 CL E G H	3207	5101	OMIM:605432	Radioulnar synostosis with amegakaryocytic thrombocytopenia	.		3
HP:0011873	HP:0001973	Autoimmune thrombocytopenia	2	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent		32
HP:0011873	HP:0004809	Neonatal alloimmune thrombocytopenia	2	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		28
HP:0011873	HP:0001973	Autoimmune thrombocytopenia	2	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	HP:0040283 - Occasional		94
HP:0011873	HP:0001973	Autoimmune thrombocytopenia	2	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent		4
HP:0011873	HP:0004809	Neonatal alloimmune thrombocytopenia	2	ITGA2 CL E G H	3673	6137	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040280 - Obligate		119
HP:0011873	HP:0040185	Macrothrombocytopenia	2	ITGA2B CL E G H	3674	6138	OMIM:187800	Bleeding disorder, platelet-type, 16			69
HP:0011873	HP:0004809	Neonatal alloimmune thrombocytopenia	2	ITGA2B CL E G H	3674	6138	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040280 - Obligate		69
HP:0011873	HP:0004809	Neonatal alloimmune thrombocytopenia	2	ITGB3 CL E G H	3690	6156	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040280 - Obligate		80
HP:0011873	HP:0001973	Autoimmune thrombocytopenia	2	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1			51
HP:0011873	HP:0001973	Autoimmune thrombocytopenia	2	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.		53
HP:0011873	HP:0001973	Autoimmune thrombocytopenia	2	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.		660
HP:0011873	HP:0001973	Autoimmune thrombocytopenia	2	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic	.		196
HP:0011873	HP:0001973	Autoimmune thrombocytopenia	2	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52			2
HP:0011873	HP:0001973	Autoimmune thrombocytopenia	2	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8			45
HP:0011873	HP:0004809	Neonatal alloimmune thrombocytopenia	2	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0011873	HP:0001973	Autoimmune thrombocytopenia	2	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN			17
HP:0011873	HP:0004859	Amegakaryocytic thrombocytopenia	2	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1	.		134
HP:0011873	HP:0004859	Amegakaryocytic thrombocytopenia	2	MECOM CL E G H	2122	3498	ORPHA:71289	Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome	HP:0040282 - Frequent		4
HP:0011873	HP:0001905	Congenital thrombocytopenia	2	MECOM CL E G H	2122	3498	OMIM:616738	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2			4
HP:0011873	HP:0004859	Amegakaryocytic thrombocytopenia	2	MPL CL E G H	4352	7217	OMIM:604498	Amegakaryocytic thrombocytopenia, congenital	.		97
HP:0011873	HP:0001973	Autoimmune thrombocytopenia	2	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent		1
HP:0011873	HP:0040185	Macrothrombocytopenia	2	MYH9 CL E G H	4627	7579	OMIM:155100	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss			297
HP:0011873	HP:0001905	Congenital thrombocytopenia	2	MYH9 CL E G H	4627	7579	ORPHA:182050	MYH9-related disease	HP:0040281 - Very frequent		297
HP:0011873	HP:0001973	Autoimmune thrombocytopenia	2	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent		7
HP:0011873	HP:0001973	Autoimmune thrombocytopenia	2	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent		11
HP:0011873	HP:0001973	Autoimmune thrombocytopenia	2	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome	HP:0040283 - Occasional		11
HP:0011873	HP:0001973	Autoimmune thrombocytopenia	2	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic	.		102
HP:0011873	HP:0001973	Autoimmune thrombocytopenia	2	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency	.		52
HP:0011873	HP:0001973	Autoimmune thrombocytopenia	2	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency	HP:0040284 - Very rare		52
HP:0011873	HP:0040185	Macrothrombocytopenia	2	PRKACG CL E G H	5568	9382	OMIM:616176	Bleeding disorder, platelet-type, 19	.		2
HP:0011873	HP:0001973	Autoimmune thrombocytopenia	2	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent		10
HP:0011873	HP:0001973	Autoimmune thrombocytopenia	2	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3			10
HP:0011873	HP:0001973	Autoimmune thrombocytopenia	2	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent		10
HP:0011873	HP:0004859	Amegakaryocytic thrombocytopenia	2	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1	.		291
HP:0011873	HP:0001973	Autoimmune thrombocytopenia	2	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent
HP:0011873	HP:0001973	Autoimmune thrombocytopenia	2	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0011873	HP:0001973	Autoimmune thrombocytopenia	2	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional		38
HP:0011873	HP:0001973	Autoimmune thrombocytopenia	2	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional		26
HP:0011873	HP:0001973	Autoimmune thrombocytopenia	2	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional		34
HP:0011873	HP:0004809	Neonatal alloimmune thrombocytopenia	2	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		33
HP:0011873	HP:0004809	Neonatal alloimmune thrombocytopenia	2	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		34
HP:0011873	HP:0004809	Neonatal alloimmune thrombocytopenia	2	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		60
HP:0011873	HP:0004809	Neonatal alloimmune thrombocytopenia	2	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0011873	HP:0004809	Neonatal alloimmune thrombocytopenia	2	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		55
HP:0011873	HP:0001973	Autoimmune thrombocytopenia	2	SASH3 CL E G H	54440	15975	OMIM:301082				1
HP:0011873	HP:0040185	Macrothrombocytopenia	2	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf	.		24
HP:0011873	HP:0001973	Autoimmune thrombocytopenia	2	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B	HP:0040284 - Very rare		164
HP:0011873	HP:0001973	Autoimmune thrombocytopenia	2	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD			6
HP:0011873	HP:0001973	Autoimmune thrombocytopenia	2	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040283 - Occasional		89
HP:0011873	HP:0001905	Congenital thrombocytopenia	2	STAT2 CL E G H	6773	11363	OMIM:618886	PSEUDO-TORCH SYNDROME 3; PTORCH3			9
HP:0011873	HP:0001973	Autoimmune thrombocytopenia	2	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1			110
HP:0011873	HP:0004854	Intermittent thrombocytopenia	2	TFRC CL E G H	7037	11763	OMIM:616740	Immunodeficiency 46			1
HP:0011873	HP:0001973	Autoimmune thrombocytopenia	2	TLR7 CL E G H	51284	15631	OMIM:301080
HP:0011873	HP:0001973	Autoimmune thrombocytopenia	2	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent		32
HP:0011873	HP:0001973	Autoimmune thrombocytopenia	2	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent		12
HP:0011873	HP:0001973	Autoimmune thrombocytopenia	2	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent		1
HP:0011873	HP:0001973	Autoimmune thrombocytopenia	2	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040283 - Occasional
HP:0011873	HP:0001973	Autoimmune thrombocytopenia	2	TPP2 CL E G H	7174	12016	ORPHA:444463	Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome	HP:0040280 - Obligate
HP:0011873	HP:0001973	Autoimmune thrombocytopenia	2	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0011873	HP:0004809	Neonatal alloimmune thrombocytopenia	2	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		56
HP:0011873	HP:0040185	Macrothrombocytopenia	2	TUBA8 CL E G H	51807	12410	OMIM:619840				21
HP:0011873	HP:0040185	Macrothrombocytopenia	2	TUBB1 CL E G H	81027	16257	OMIM:613112	Macrothrombocytopenia, autosomal dominant, tubb1-related			3
HP:0011873	HP:0001905	Congenital thrombocytopenia	2	WAS CL E G H	7454	12731	OMIM:313900	Thrombocytopenia 1	.		65
HP:0011873	HP:0004854	Intermittent thrombocytopenia	2	WAS CL E G H	7454	12731	OMIM:313900	Thrombocytopenia 1	.		65
HP:0011873	HP:0004854	Intermittent thrombocytopenia	2	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0011873	HP:0001973	Autoimmune thrombocytopenia	2	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency	HP:0040284 - Very rare		46

Genes (399) :ABCA1 ABCD4 ABCG8 ABL1 ACAD9 ACAT1 ACD ACP5 ACTN1 ADA ADA2 ADAMTS13 ADAR ADH5 AGK ALG12 ALG8 AMN ANKRD11 ANKRD26 AP3B1 APOE ARHGAP31 ARHGEF1 ARPC1B ARVCF ASAH1 ASXL1 ATP6AP1 ATP6V1B2 ATP7B ATRX BCOR BCR BLOC1S6 BRAF BRCA1 BRCA2 BRIP1 BTK BTNL2 C3 CA2 CALR CASP10 CBL CD109 CD19 CD36 CD40LG CD46 CD55 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 ELF4 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 HBB HEATR3 HELLPAR HIRA HLA-B HLA-DQA1 HLA-DQB1 HLA-DRB1 HLCS HMGCL HMOX1 HOXA11 HSCB ICOS IFIH1 IFNG IFNGR1 IKZF1 IKZF5 IL6ST IL7R IRAK1 IRF2BP2 IRF8 ITGA2 ITGA2B ITGB3 ITK IVD JAK2 JAM2 JMJD1C KDM6A KIF15 KIT KMT2D KRAS LACC1 LARS2 LAT LBR LIG4 LIPA LMBRD1 LRBA LSM11 LYST MAD2L2 MADD MAGT1 MAP2K1 MARS1 MECOM MED12 MMAA MMAB MMACHC MMUT MOGS MPIG6B MPL MS4A1 MTHFD1 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 PIK3CD PIK3CG PKHD1 PLAU PML PMM2 PNP POLRMT POMP PPIL1 PRDX1 PRF1 PRIM1 PRKACG PRKAR1A PRKCD PSAP PSMB4 PSMB8 PSMB9 PSTPIP1 PTPN11 PTPN22 RAD51 RAD51C RAG1 RAG2 RARA RASGRP1 RBM8A RBPJ REL RFWD3 RFX5 RFXANK RFXAP RNASEH2A RNASEH2B RNASEH2C RNU7-1 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPS10 RPS14 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RPSA RRAS2 RREB1 RTEL1 RUNX1 RYR1 SALL4 SAMD9 SAMD9L SAMHD1 SARS2 SASH3 SBDS SC5D SCARB2 SEC24C SF3B1 SH2B3 SH2D1A SKIC2 SKIC3 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 STING1 STOX1 STT3B STX11 STXBP2 TALDO1 TBC1D24 TBL1XR1 TBX1 TBXAS1 TCIRG1 TCN2 TERC TERT TET2 TFRC TGFB1 THBD THPO TINF2 TLR7 TLR8 TMEM165 TNFAIP3 TNFRSF13B TNFRSF13C TNFSF11 TNFSF12 TOM1 TPP2 TREX1 TSR2 TTC7A 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 (355) :ORPHA:31150 OMIM:614857 OMIM:210250 ORPHA:521 ORPHA:99901 OMIM:611126 ORPHA:134 ORPHA:3322 ORPHA:1855 OMIM:607944 OMIM:615193 OMIM:102700 ORPHA:124 OMIM:615688 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 ORPHA:79500 OMIM:277900 ORPHA:905 ORPHA:231401 ORPHA:520 OMIM:614171 OMIM:163950 ORPHA:84 ORPHA:47 ORPHA:797 OMIM:612925 ORPHA:2785 ORPHA:824 OMIM:187950 ORPHA:3261 OMIM:603909 ORPHA:853 ORPHA:1572 OMIM:608404 OMIM:308230 ORPHA:244242 OMIM:612922 OMIM:226300 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:202700 OMIM:301074 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 ORPHA:232 OMIM:620072 ORPHA:36426 OMIM:212750 OMIM:253270 ORPHA:79242 ORPHA:20 OMIM:614034 ORPHA:71289 OMIM:605432 OMIM:619523 OMIM:615846 ORPHA:88 OMIM:618963 OMIM:209950 OMIM:619130 OMIM:619751 ORPHA:169154 ORPHA:93552 OMIM:226990 OMIM:187800 OMIM:619271 OMIM:613011 OMIM:243500 ORPHA:71493 OMIM:263300 OMIM:614521 ORPHA:1980 OMIM:147920 OMIM:619981 ORPHA:261323 OMIM:614470 OMIM:618795 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:615486 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:601977 OMIM:617780 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:619281 OMIM:619802 OMIM:601709 OMIM:212065 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 OMIM:604416 ORPHA:331206 OMIM:618534 ORPHA:3320 OMIM:274000 OMIM:619652 OMIM:610333 OMIM:610329 ORPHA:86841 OMIM:105650 OMIM:271400 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:84064 OMIM:222470 OMIM:249270 ORPHA:49827 OMIM:603585 ORPHA:238459 OMIM:619525 OMIM:619693 OMIM:229050 ORPHA:90045 OMIM:222700 ORPHA:470 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:615934 OMIM:615597 ORPHA:370924 OMIM:603552 OMIM:613101 OMIM:606003 ORPHA:101028 OMIM:188400 OMIM:231095 OMIM:259700 ORPHA:859 OMIM:127550 OMIM:613989 ORPHA:98826 OMIM:616740 OMIM:618213 OMIM:612926 OMIM:613990 OMIM:301080 OMIM:301078 OMIM:614727 OMIM:616744 OMIM:259710 ORPHA:444463 OMIM:619220 OMIM:225750 OMIM:243150 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 ORPHA:906 OMIM:301000 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.

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