Human Phenotype Ontology

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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 thrombocytes (HP:0001872)

Parent Node:
Abnormal platelet count (HP:0011873)

..Starting node
..Thrombocytosis (HP:0001894)

Term ID:

1894

Name:

Thrombocytosis

Synonym:

Increased number of platelets in blood; Increased platelet count; Thrombocythaemia; Thrombocythemia

Definition:

Increased numbers of platelets in the peripheral blood.

Comments:

Reference:

HP:0001894

Genes and Diseases:

Child Nodes:

Sister Nodes:

Thrombocytopenia (HP:0001873)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001894	HP:0001894	Thrombocytosis	0	ABL1 CL E G H	25	76	ORPHA:521	Chronic myeloid leukemia	HP:0040282 - Frequent	51
HP:0001894	HP:0001894	Thrombocytosis	0	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency	HP:0040282 - Frequent	91
HP:0001894	HP:0001894	Thrombocytosis	0	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	22
HP:0001894	HP:0001894	Thrombocytosis	0	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0001894	HP:0001894	Thrombocytosis	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040284 - Very rare	5
HP:0001894	HP:0001894	Thrombocytosis	0	BCR CL E G H	613	1014	ORPHA:521	Chronic myeloid leukemia	HP:0040282 - Frequent	5
HP:0001894	HP:0001894	Thrombocytosis	0	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	1
HP:0001894	HP:0001894	Thrombocytosis	0	CALR CL E G H	811	1455	OMIM:187950	THROMBOCYTHEMIA 1; THCYT1		1
HP:0001894	HP:0001894	Thrombocytosis	0	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy	HP:0040284 - Very rare	9
HP:0001894	HP:0001894	Thrombocytosis	0	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant	.	79
HP:0001894	HP:0001894	Thrombocytosis	0	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0001894	HP:0001894	Thrombocytosis	0	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	29
HP:0001894	HP:0001894	Thrombocytosis	0	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia	HP:0040282 - Frequent	580
HP:0001894	HP:0001894	Thrombocytosis	0	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0001894	HP:0001894	Thrombocytosis	0	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0001894	HP:0001894	Thrombocytosis	0	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040283 - Occasional	35
HP:0001894	HP:0001894	Thrombocytosis	0	HMOX1 CL E G H	3162	5013	OMIM:614034	HEME OXYGENASE 1 DEFICIENCY; HMOX1D		3
HP:0001894	HP:0001894	Thrombocytosis	0	IFNG CL E G H	3458	5438	OMIM:618963	IMMUNODEFICIENCY 69; IMD69		23
HP:0001894	HP:0001894	Thrombocytosis	0	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR		60
HP:0001894	HP:0001894	Thrombocytosis	0	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis	HP:0040281 - Very frequent	57
HP:0001894	HP:0001894	Thrombocytosis	0	JAK2 CL E G H	3717	6192	OMIM:263300	Polycythemia vera	.	57
HP:0001894	HP:0001894	Thrombocytosis	0	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	57
HP:0001894	HP:0001894	Thrombocytosis	0	JAK2 CL E G H	3717	6192	OMIM:614521	Thrombocythemia 3	.	57
HP:0001894	HP:0001894	Thrombocytosis	0	LACC1 CL E G H	144811	26789	OMIM:618795	JUVENILE ARTHRITIS; JUVAR		1
HP:0001894	HP:0001894	Thrombocytosis	0	MARS1 CL E G H	4141	6898	OMIM:615486	Interstitial lung and liver disease
HP:0001894	HP:0001894	Thrombocytosis	0	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis	HP:0040281 - Very frequent	97
HP:0001894	HP:0001894	Thrombocytosis	0	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	97
HP:0001894	HP:0001894	Thrombocytosis	0	MPL CL E G H	4352	7217	OMIM:601977	THROMBOCYTHEMIA 2; THCYT2		97
HP:0001894	HP:0001894	Thrombocytosis	0	MTHFD1 CL E G H	4522	7432	OMIM:617780	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia	.	5
HP:0001894	HP:0001894	Thrombocytosis	0	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0001894	HP:0001894	Thrombocytosis	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia	.	150
HP:0001894	HP:0001894	Thrombocytosis	0	PSTPIP1 CL E G H	9051	9580	OMIM:604416	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne		96
HP:0001894	HP:0001894	Thrombocytosis	0	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0001894	HP:0001894	Thrombocytosis	0	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	22
HP:0001894	HP:0001894	Thrombocytosis	0	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	3
HP:0001894	HP:0001894	Thrombocytosis	0	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0001894	HP:0001894	Thrombocytosis	0	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	3
HP:0001894	HP:0001894	Thrombocytosis	0	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0001894	HP:0001894	Thrombocytosis	0	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0001894	HP:0001894	Thrombocytosis	0	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0001894	HP:0001894	Thrombocytosis	0	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	11
HP:0001894	HP:0001894	Thrombocytosis	0	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	40
HP:0001894	HP:0001894	Thrombocytosis	0	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	26
HP:0001894	HP:0001894	Thrombocytosis	0	RPS14 CL E G H	6208	10387	ORPHA:86841	Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality	HP:0040282 - Frequent
HP:0001894	HP:0001894	Thrombocytosis	0	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0001894	HP:0001894	Thrombocytosis	0	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	5
HP:0001894	HP:0001894	Thrombocytosis	0	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	42
HP:0001894	HP:0001894	Thrombocytosis	0	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1		42
HP:0001894	HP:0001894	Thrombocytosis	0	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0001894	HP:0001894	Thrombocytosis	0	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	22
HP:0001894	HP:0001894	Thrombocytosis	0	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	20
HP:0001894	HP:0001894	Thrombocytosis	0	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0001894	HP:0001894	Thrombocytosis	0	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0001894	HP:0001894	Thrombocytosis	0	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	3
HP:0001894	HP:0001894	Thrombocytosis	0	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	20
HP:0001894	HP:0001894	Thrombocytosis	0	RPSA CL E G H	3921	6502	OMIM:271400	Asplenia, isolated congenital	HP:0040283 - Occasional	9
HP:0001894	HP:0001894	Thrombocytosis	0	RUNX1 CL E G H	861	10471	ORPHA:521	Chronic myeloid leukemia	HP:0040282 - Frequent	181
HP:0001894	HP:0001894	Thrombocytosis	0	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040284 - Very rare	19
HP:0001894	HP:0001894	Thrombocytosis	0	SH2B3 CL E G H	10019	29605	OMIM:187950	THROMBOCYTHEMIA 1; THCYT1		4
HP:0001894	HP:0001894	Thrombocytosis	0	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040283 - Occasional
HP:0001894	HP:0001894	Thrombocytosis	0	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040283 - Occasional
HP:0001894	HP:0001894	Thrombocytosis	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	HP:0040283 - Occasional
HP:0001894	HP:0001894	Thrombocytosis	0	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0001894	HP:0001894	Thrombocytosis	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040284 - Very rare	271
HP:0001894	HP:0001894	Thrombocytosis	0	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040284 - Very rare	3
HP:0001894	HP:0001894	Thrombocytosis	0	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	3
HP:0001894	HP:0001894	Thrombocytosis	0	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE		13
HP:0001894	HP:0001894	Thrombocytosis	0	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis	HP:0040281 - Very frequent	23
HP:0001894	HP:0001894	Thrombocytosis	0	THPO CL E G H	7066	11795	OMIM:187950	THROMBOCYTHEMIA 1; THCYT1		23
HP:0001894	HP:0001894	Thrombocytosis	0	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0001894	HP:0001894	Thrombocytosis	0	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26

Genes (60) :ABL1 ACAT1 ADA2 ATP6V1B2 BCR CALR CD55 ELANE ELF4 GATA1 HBB HLA-DQA1 HLA-DQB1 HMGCL HMOX1 IFNG IFNGR1 JAK2 LACC1 MARS1 MPL MTHFD1 PIK3CD PMM2 PSTPIP1 REL RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPS10 RPS14 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RPSA RUNX1 SF3B1 SH2B3 SKIC2 SKIC3 STING1 TBC1D24 TET2 TGFB1 THPO TSR2 TTC7A

Diseases (36) :ORPHA:521 ORPHA:134 ORPHA:124 OMIM:615688 ORPHA:79500 ORPHA:824 OMIM:187950 OMIM:226300 OMIM:202700 OMIM:301074 ORPHA:232 OMIM:212750 ORPHA:20 OMIM:614034 OMIM:618963 OMIM:209950 ORPHA:71493 OMIM:263300 OMIM:614521 OMIM:618795 OMIM:615486 OMIM:601977 OMIM:617780 OMIM:619281 OMIM:212065 OMIM:604416 OMIM:619652 ORPHA:86841 OMIM:105650 OMIM:271400 ORPHA:75564 ORPHA:84064 OMIM:222470 OMIM:615934 OMIM:618213 OMIM:243150

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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