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:
Abnormal bleeding (HP:0001892)

Grandparent Node:
Vascular skin abnormality (HP:0011276)

Parent Node:
Subcutaneous hemorrhage (HP:0001933)

..Starting node
..Purpura (HP:0000979)

Term ID:

979

Name:

Purpura

Synonym:

Blood spots; Red or purple spots on the skin

Definition:

Purpura (from Latin: purpura, meaning "purple") is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae.

Comments:

Reference:

HP:0000979

Genes and Diseases:

Child Nodes:

........

Palpable purpura (HP:0031363)

........

Macular purpura (HP:0031365)

................... HP:0000967 Petechiae
................... HP:0031364 Ecchymosis

Sister Nodes:

Bruising susceptibility (HP:0000978)

Spontaneous hematomas (HP:0007420)

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:0000979	HP:0000979	Purpura	0	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation	.	16
HP:0000979	HP:0000979	Purpura	0	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0000979	HP:0000979	Purpura	0	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.	95
HP:0000979	HP:0000979	Purpura	0	APOE CL E G H	348	613	ORPHA:158029	Sea-blue histiocytosis		39
HP:0000979	HP:0000979	Purpura	0	ARL6IP6 CL E G H	151188	24048	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040283 - Occasional	1
HP:0000979	HP:0000979	Purpura	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	1
HP:0000979	HP:0000979	Purpura	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0000979	HP:0000979	Purpura	0	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	101
HP:0000979	HP:0000979	Purpura	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0000979	HP:0000979	Purpura	0	C2 CL E G H	717	1248	OMIM:217000	Complement component 2 deficiency	.	23
HP:0000979	HP:0000979	Purpura	0	C4A CL E G H	720	1323	OMIM:614380	Complement component 4A deficiency	.	1
HP:0000979	HP:0000979	Purpura	0	CALR CL E G H	811	1455	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included		1
HP:0000979	HP:0000979	Purpura	0	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	1
HP:0000979	HP:0000979	Purpura	0	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0000979	HP:0000979	Purpura	0	CD109 CL E G H	135228	21685	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040282 - Frequent
HP:0000979	HP:0000979	Purpura	0	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	38
HP:0000979	HP:0000979	Purpura	0	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	1
HP:0000979	HP:0000979	Purpura	0	CD81 CL E G H	975	1701	OMIM:613496	Immunodeficiency, common variable, 6		1
HP:0000979	HP:0000979	Purpura	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0000979	HP:0000979	Purpura	0	CFH CL E G H	3075	4883	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.	86
HP:0000979	HP:0000979	Purpura	0	CFHR1 CL E G H	3078	4888	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.
HP:0000979	HP:0000979	Purpura	0	CFHR3 CL E G H	10878	16980	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.
HP:0000979	HP:0000979	Purpura	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1		27
HP:0000979	HP:0000979	Purpura	0	CLCN7 CL E G H	1186	2025	OMIM:611490	Osteopetrosis, autosomal recessive 4		102
HP:0000979	HP:0000979	Purpura	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome		373
HP:0000979	HP:0000979	Purpura	0	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0000979	HP:0000979	Purpura	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome		660
HP:0000979	HP:0000979	Purpura	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome		325
HP:0000979	HP:0000979	Purpura	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	6
HP:0000979	HP:0000979	Purpura	0	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	10
HP:0000979	HP:0000979	Purpura	0	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional	10
HP:0000979	HP:0000979	Purpura	0	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic		42
HP:0000979	HP:0000979	Purpura	0	ETHE1 CL E G H	23474	23287	ORPHA:51188	Ethylmalonic encephalopathy		42
HP:0000979	HP:0000979	Purpura	0	ETV6 CL E G H	2120	3495	OMIM:616216	Thrombocytopenia 5		13
HP:0000979	HP:0000979	Purpura	0	F13A1 CL E G H	2162	3531	ORPHA:331	Congenital factor XIII deficiency		60
HP:0000979	HP:0000979	Purpura	0	F13A1 CL E G H	2162	3531	OMIM:613225	Factor XIII, A subunit, deficiency of		60
HP:0000979	HP:0000979	Purpura	0	F13B CL E G H	2165	3534	ORPHA:331	Congenital factor XIII deficiency		32
HP:0000979	HP:0000979	Purpura	0	F13B CL E G H	2165	3534	OMIM:613235	Factor XIIIB deficiency		32
HP:0000979	HP:0000979	Purpura	0	F2 CL E G H	2147	3535	OMIM:613679	Congenital prothrombin deficiency		44
HP:0000979	HP:0000979	Purpura	0	FCGR2C CL E G H	9103	15626	ORPHA:3002	Immune thrombocytopenia	HP:0040282 - Frequent
HP:0000979	HP:0000979	Purpura	0	FERMT3 CL E G H	83706	23151	OMIM:612840	Leukocyte adhesion deficiency, type III		23
HP:0000979	HP:0000979	Purpura	0	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	4
HP:0000979	HP:0000979	Purpura	0	FYB1 CL E G H	2533	4036	OMIM:273900	THROMBOCYTOPENIA 3; THC3		4
HP:0000979	HP:0000979	Purpura	0	GATA1 CL E G H	2623	4170	OMIM:314050	Thrombocytopenia with beta-thalassemia, X-linked		29
HP:0000979	HP:0000979	Purpura	0	GATA1 CL E G H	2623	4170	OMIM:300367	Thrombocytopenia, X-linked, with or without dyserythropoietic anemia		29
HP:0000979	HP:0000979	Purpura	0	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal	.
HP:0000979	HP:0000979	Purpura	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0000979	HP:0000979	Purpura	0	GFI1B CL E G H	8328	4238	OMIM:187900	Bleeding disorder, platelet-type, 17		3
HP:0000979	HP:0000979	Purpura	0	GGCX CL E G H	2677	4247	OMIM:277450	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1		129
HP:0000979	HP:0000979	Purpura	0	GIMAP5 CL E G H	55340	18005	OMIM:619463	PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0000979	HP:0000979	Purpura	0	GNA11 CL E G H	2767	4379	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040283 - Occasional	16
HP:0000979	HP:0000979	Purpura	0	GNA14 CL E G H	9630	4382	ORPHA:1063	Tufted angioma	HP:0040283 - Occasional
HP:0000979	HP:0000979	Purpura	0	GP1BA CL E G H	2811	4439	ORPHA:274	Bernard-Soulier syndrome		23
HP:0000979	HP:0000979	Purpura	0	GP1BA CL E G H	2811	4439	OMIM:153670	Bernard-Soulier syndrome, type A2, autosomal dominant		23
HP:0000979	HP:0000979	Purpura	0	GP1BA CL E G H	2811	4439	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		23
HP:0000979	HP:0000979	Purpura	0	GP1BA CL E G H	2811	4439	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040282 - Frequent	23
HP:0000979	HP:0000979	Purpura	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	8
HP:0000979	HP:0000979	Purpura	0	GP1BB CL E G H	2812	4440	ORPHA:274	Bernard-Soulier syndrome		8
HP:0000979	HP:0000979	Purpura	0	GP1BB CL E G H	2812	4440	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		8
HP:0000979	HP:0000979	Purpura	0	GP1BB CL E G H	2812	4440	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040282 - Frequent	8
HP:0000979	HP:0000979	Purpura	0	GP6 CL E G H	51206	14388	OMIM:614201	Bleeding disorder, platelet-type, 11		24
HP:0000979	HP:0000979	Purpura	0	GP9 CL E G H	2815	4444	ORPHA:274	Bernard-Soulier syndrome		21
HP:0000979	HP:0000979	Purpura	0	GP9 CL E G H	2815	4444	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		21
HP:0000979	HP:0000979	Purpura	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	3
HP:0000979	HP:0000979	Purpura	0	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional
HP:0000979	HP:0000979	Purpura	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional	1
HP:0000979	HP:0000979	Purpura	0	HOXA11 CL E G H	3207	5101	OMIM:605432	Radioulnar synostosis with amegakaryocytic thrombocytopenia	.	3
HP:0000979	HP:0000979	Purpura	0	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1		121
HP:0000979	HP:0000979	Purpura	0	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6		45
HP:0000979	HP:0000979	Purpura	0	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	32
HP:0000979	HP:0000979	Purpura	0	IFNG CL E G H	3458	5438	ORPHA:88	Idiopathic aplastic anemia		23
HP:0000979	HP:0000979	Purpura	0	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	4
HP:0000979	HP:0000979	Purpura	0	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	4
HP:0000979	HP:0000979	Purpura	0	ITGA2 CL E G H	3673	6137	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040282 - Frequent	119
HP:0000979	HP:0000979	Purpura	0	ITGA2B CL E G H	3674	6138	OMIM:187800	Bleeding disorder, platelet-type, 16		69
HP:0000979	HP:0000979	Purpura	0	ITGA2B CL E G H	3674	6138	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040282 - Frequent	69
HP:0000979	HP:0000979	Purpura	0	ITGA2B CL E G H	3674	6138	OMIM:273800	Glanzmann thrombasthenia	.	69
HP:0000979	HP:0000979	Purpura	0	ITGA2B CL E G H	3674	6138	ORPHA:849	Glanzmann thrombasthenia	HP:0040283 - Occasional	69
HP:0000979	HP:0000979	Purpura	0	ITGB3 CL E G H	3690	6156	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040282 - Frequent	80
HP:0000979	HP:0000979	Purpura	0	ITGB3 CL E G H	3690	6156	ORPHA:849	Glanzmann thrombasthenia	HP:0040283 - Occasional	80
HP:0000979	HP:0000979	Purpura	0	JAK2 CL E G H	3717	6192	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included		57
HP:0000979	HP:0000979	Purpura	0	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	57
HP:0000979	HP:0000979	Purpura	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	2
HP:0000979	HP:0000979	Purpura	0	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0000979	HP:0000979	Purpura	0	MPL CL E G H	4352	7217	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included		97
HP:0000979	HP:0000979	Purpura	0	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	97
HP:0000979	HP:0000979	Purpura	0	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	1
HP:0000979	HP:0000979	Purpura	0	MVK CL E G H	4598	7530	ORPHA:343	Hyperimmunoglobulinemia D with periodic fever	HP:0040283 - Occasional	150
HP:0000979	HP:0000979	Purpura	0	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia	HP:0040283 - Occasional	9
HP:0000979	HP:0000979	Purpura	0	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0000979	HP:0000979	Purpura	0	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2		43
HP:0000979	HP:0000979	Purpura	0	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	7
HP:0000979	HP:0000979	Purpura	0	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	11
HP:0000979	HP:0000979	Purpura	0	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome	HP:0040283 - Occasional	217
HP:0000979	HP:0000979	Purpura	0	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	12
HP:0000979	HP:0000979	Purpura	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0000979	HP:0000979	Purpura	0	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0000979	HP:0000979	Purpura	0	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria		23
HP:0000979	HP:0000979	Purpura	0	ORAI1 CL E G H	84876	25896	ORPHA:3204	Stormorken-Sjaastad-Langslet syndrome	HP:0040281 - Very frequent	19
HP:0000979	HP:0000979	Purpura	0	P2RY12 CL E G H	64805	18124	OMIM:609821	Bleeding disorder, platelet-type, 8		5
HP:0000979	HP:0000979	Purpura	0	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency		66
HP:0000979	HP:0000979	Purpura	0	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	3
HP:0000979	HP:0000979	Purpura	0	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	58
HP:0000979	HP:0000979	Purpura	0	PRF1 CL E G H	5551	9360	ORPHA:88	Idiopathic aplastic anemia		58
HP:0000979	HP:0000979	Purpura	0	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	134
HP:0000979	HP:0000979	Purpura	0	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	10
HP:0000979	HP:0000979	Purpura	0	PROC CL E G H	5624	9451	ORPHA:745	Severe hereditary thrombophilia due to congenital protein C deficiency	HP:0040282 - Frequent	65
HP:0000979	HP:0000979	Purpura	0	PROC CL E G H	5624	9451	OMIM:612304	Thrombophilia due to protein C deficiency, autosomal recessive	.	65
HP:0000979	HP:0000979	Purpura	0	PROS1 CL E G H	5627	9456	ORPHA:743	Severe hereditary thrombophilia due to congenital protein S deficiency	HP:0040281 - Very frequent	75
HP:0000979	HP:0000979	Purpura	0	PROS1 CL E G H	5627	9456	OMIM:614514	Thrombophilia due to protein S deficiency, autosomal recessive	.	75
HP:0000979	HP:0000979	Purpura	0	PROS1 CL E G H	5627	9456	OMIM:612336	Thrombophilia, hereditary, due to protein S deficiency, autosomal	.	75
HP:0000979	HP:0000979	Purpura	0	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional
HP:0000979	HP:0000979	Purpura	0	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional	3
HP:0000979	HP:0000979	Purpura	0	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2		67
HP:0000979	HP:0000979	Purpura	0	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	2
HP:0000979	HP:0000979	Purpura	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0000979	HP:0000979	Purpura	0	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome		8
HP:0000979	HP:0000979	Purpura	0	SBDS CL E G H	51119	19440	ORPHA:88	Idiopathic aplastic anemia		26
HP:0000979	HP:0000979	Purpura	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0000979	HP:0000979	Purpura	0	SH2B3 CL E G H	10019	29605	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included		4
HP:0000979	HP:0000979	Purpura	0	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	110
HP:0000979	HP:0000979	Purpura	0	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	12
HP:0000979	HP:0000979	Purpura	0	STIM1 CL E G H	6786	11386	ORPHA:3204	Stormorken-Sjaastad-Langslet syndrome	HP:0040281 - Very frequent	31
HP:0000979	HP:0000979	Purpura	0	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	85
HP:0000979	HP:0000979	Purpura	0	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	70
HP:0000979	HP:0000979	Purpura	0	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	22
HP:0000979	HP:0000979	Purpura	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	32
HP:0000979	HP:0000979	Purpura	0	TBXA2R CL E G H	6915	11608	OMIM:614009	BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO; BDPLT13		10
HP:0000979	HP:0000979	Purpura	0	TERC CL E G H	7012	11727	ORPHA:88	Idiopathic aplastic anemia		48
HP:0000979	HP:0000979	Purpura	0	TERT CL E G H	7015	11730	ORPHA:88	Idiopathic aplastic anemia		238
HP:0000979	HP:0000979	Purpura	0	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	3
HP:0000979	HP:0000979	Purpura	0	TFR2 CL E G H	7036	11762	OMIM:604250	Hemochromatosis, type 3	.	67
HP:0000979	HP:0000979	Purpura	0	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	32
HP:0000979	HP:0000979	Purpura	0	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	12
HP:0000979	HP:0000979	Purpura	0	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	1
HP:0000979	HP:0000979	Purpura	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0000979	HP:0000979	Purpura	0	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1	.	56
HP:0000979	HP:0000979	Purpura	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0000979	HP:0000979	Purpura	0	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	116
HP:0000979	HP:0000979	Purpura	0	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2		2
HP:0000979	HP:0000979	Purpura	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0000979	HP:0000979	Purpura	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0000979	HP:0000979	Purpura	0	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.	7
HP:0000979	HP:0000979	Purpura	0	WAS CL E G H	7454	12731	OMIM:313900	Thrombocytopenia 1		65
HP:0000979	HP:0000979	Purpura	0	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040282 - Frequent	65
HP:0000979	HP:0000979	Purpura	0	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome	.	65
HP:0000979	HP:0000979	Purpura	0	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040282 - Frequent	6
HP:0000979	HP:0000979	Purpura	0	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	1
HP:0000979	HP:0031363	Palpable purpura	1	CL E G H
HP:0000979	HP:0031365	Macular purpura	1	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic		95
HP:0000979	HP:0031365	Macular purpura	1	APOE CL E G H	348	613	ORPHA:158029	Sea-blue histiocytosis		39
HP:0000979	HP:0031365	Macular purpura	1	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0000979	HP:0031365	Macular purpura	1	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia		101
HP:0000979	HP:0031365	Macular purpura	1	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0000979	HP:0031365	Macular purpura	1	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis		1
HP:0000979	HP:0031365	Macular purpura	1	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0000979	HP:0031365	Macular purpura	1	CD109 CL E G H	135228	21685	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia
HP:0000979	HP:0031365	Macular purpura	1	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0000979	HP:0031365	Macular purpura	1	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1		27
HP:0000979	HP:0031365	Macular purpura	1	CLCN7 CL E G H	1186	2025	OMIM:611490	Osteopetrosis, autosomal recessive 4		102
HP:0000979	HP:0031365	Macular purpura	1	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome		373
HP:0000979	HP:0031365	Macular purpura	1	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0000979	HP:0031365	Macular purpura	1	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome		660
HP:0000979	HP:0031365	Macular purpura	1	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome		325
HP:0000979	HP:0031365	Macular purpura	1	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic		42
HP:0000979	HP:0031365	Macular purpura	1	ETHE1 CL E G H	23474	23287	ORPHA:51188	Ethylmalonic encephalopathy		42
HP:0000979	HP:0031365	Macular purpura	1	ETV6 CL E G H	2120	3495	OMIM:616216	Thrombocytopenia 5		13
HP:0000979	HP:0031365	Macular purpura	1	F13A1 CL E G H	2162	3531	ORPHA:331	Congenital factor XIII deficiency		60
HP:0000979	HP:0031365	Macular purpura	1	F13A1 CL E G H	2162	3531	OMIM:613225	Factor XIII, A subunit, deficiency of		60
HP:0000979	HP:0031365	Macular purpura	1	F13B CL E G H	2165	3534	ORPHA:331	Congenital factor XIII deficiency		32
HP:0000979	HP:0031365	Macular purpura	1	F13B CL E G H	2165	3534	OMIM:613235	Factor XIIIB deficiency		32
HP:0000979	HP:0031365	Macular purpura	1	F2 CL E G H	2147	3535	OMIM:613679	Congenital prothrombin deficiency		44
HP:0000979	HP:0031365	Macular purpura	1	FCGR2C CL E G H	9103	15626	ORPHA:3002	Immune thrombocytopenia
HP:0000979	HP:0031365	Macular purpura	1	FERMT3 CL E G H	83706	23151	OMIM:612840	Leukocyte adhesion deficiency, type III		23
HP:0000979	HP:0031365	Macular purpura	1	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia		4
HP:0000979	HP:0031365	Macular purpura	1	FYB1 CL E G H	2533	4036	OMIM:273900	THROMBOCYTOPENIA 3; THC3		4
HP:0000979	HP:0031365	Macular purpura	1	GATA1 CL E G H	2623	4170	OMIM:314050	Thrombocytopenia with beta-thalassemia, X-linked		29
HP:0000979	HP:0031365	Macular purpura	1	GATA1 CL E G H	2623	4170	OMIM:300367	Thrombocytopenia, X-linked, with or without dyserythropoietic anemia		29
HP:0000979	HP:0031365	Macular purpura	1	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0000979	HP:0031365	Macular purpura	1	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0000979	HP:0031365	Macular purpura	1	GFI1B CL E G H	8328	4238	OMIM:187900	Bleeding disorder, platelet-type, 17		3
HP:0000979	HP:0031365	Macular purpura	1	GGCX CL E G H	2677	4247	OMIM:277450	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1		129
HP:0000979	HP:0031365	Macular purpura	1	GIMAP5 CL E G H	55340	18005	OMIM:619463	PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0000979	HP:0031365	Macular purpura	1	GNA14 CL E G H	9630	4382	ORPHA:1063	Tufted angioma
HP:0000979	HP:0031365	Macular purpura	1	GP1BA CL E G H	2811	4439	ORPHA:274	Bernard-Soulier syndrome		23
HP:0000979	HP:0031365	Macular purpura	1	GP1BA CL E G H	2811	4439	OMIM:153670	Bernard-Soulier syndrome, type A2, autosomal dominant		23
HP:0000979	HP:0031365	Macular purpura	1	GP1BA CL E G H	2811	4439	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia		23
HP:0000979	HP:0031365	Macular purpura	1	GP1BB CL E G H	2812	4440	ORPHA:274	Bernard-Soulier syndrome		8
HP:0000979	HP:0031365	Macular purpura	1	GP1BB CL E G H	2812	4440	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia		8
HP:0000979	HP:0031365	Macular purpura	1	GP6 CL E G H	51206	14388	OMIM:614201	Bleeding disorder, platelet-type, 11		24
HP:0000979	HP:0031365	Macular purpura	1	GP9 CL E G H	2815	4444	ORPHA:274	Bernard-Soulier syndrome		21
HP:0000979	HP:0031365	Macular purpura	1	HOXA11 CL E G H	3207	5101	OMIM:605432	Radioulnar synostosis with amegakaryocytic thrombocytopenia		3
HP:0000979	HP:0031365	Macular purpura	1	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1		121
HP:0000979	HP:0031365	Macular purpura	1	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6		45
HP:0000979	HP:0031365	Macular purpura	1	IFNG CL E G H	3458	5438	ORPHA:88	Idiopathic aplastic anemia		23
HP:0000979	HP:0031365	Macular purpura	1	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia		4
HP:0000979	HP:0031365	Macular purpura	1	ITGA2 CL E G H	3673	6137	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia		119
HP:0000979	HP:0031365	Macular purpura	1	ITGA2B CL E G H	3674	6138	OMIM:187800	Bleeding disorder, platelet-type, 16		69
HP:0000979	HP:0031365	Macular purpura	1	ITGA2B CL E G H	3674	6138	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia		69
HP:0000979	HP:0031365	Macular purpura	1	ITGA2B CL E G H	3674	6138	ORPHA:849	Glanzmann thrombasthenia		69
HP:0000979	HP:0031365	Macular purpura	1	ITGA2B CL E G H	3674	6138	OMIM:273800	Glanzmann thrombasthenia		69
HP:0000979	HP:0031365	Macular purpura	1	ITGB3 CL E G H	3690	6156	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia		80
HP:0000979	HP:0031365	Macular purpura	1	ITGB3 CL E G H	3690	6156	ORPHA:849	Glanzmann thrombasthenia		80
HP:0000979	HP:0031365	Macular purpura	1	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis		57
HP:0000979	HP:0031365	Macular purpura	1	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0000979	HP:0031365	Macular purpura	1	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis		97
HP:0000979	HP:0031365	Macular purpura	1	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia
HP:0000979	HP:0031365	Macular purpura	1	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2		43
HP:0000979	HP:0031365	Macular purpura	1	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia		12
HP:0000979	HP:0031365	Macular purpura	1	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0000979	HP:0031365	Macular purpura	1	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia
HP:0000979	HP:0031365	Macular purpura	1	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria		23
HP:0000979	HP:0031365	Macular purpura	1	P2RY12 CL E G H	64805	18124	OMIM:609821	Bleeding disorder, platelet-type, 8		5
HP:0000979	HP:0031365	Macular purpura	1	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency		66
HP:0000979	HP:0031365	Macular purpura	1	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia		3
HP:0000979	HP:0031365	Macular purpura	1	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		58
HP:0000979	HP:0031365	Macular purpura	1	PRF1 CL E G H	5551	9360	ORPHA:88	Idiopathic aplastic anemia		58
HP:0000979	HP:0031365	Macular purpura	1	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia		134
HP:0000979	HP:0031365	Macular purpura	1	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2		67
HP:0000979	HP:0031365	Macular purpura	1	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia		2
HP:0000979	HP:0031365	Macular purpura	1	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome		8
HP:0000979	HP:0031365	Macular purpura	1	SBDS CL E G H	51119	19440	ORPHA:88	Idiopathic aplastic anemia		26
HP:0000979	HP:0031365	Macular purpura	1	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia		110
HP:0000979	HP:0031365	Macular purpura	1	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia		12
HP:0000979	HP:0031365	Macular purpura	1	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		85
HP:0000979	HP:0031365	Macular purpura	1	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		70
HP:0000979	HP:0031365	Macular purpura	1	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia		22
HP:0000979	HP:0031365	Macular purpura	1	TBXA2R CL E G H	6915	11608	OMIM:614009	BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO; BDPLT13		10
HP:0000979	HP:0031365	Macular purpura	1	TERC CL E G H	7012	11727	ORPHA:88	Idiopathic aplastic anemia		48
HP:0000979	HP:0031365	Macular purpura	1	TERT CL E G H	7015	11730	ORPHA:88	Idiopathic aplastic anemia		238
HP:0000979	HP:0031365	Macular purpura	1	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis		3
HP:0000979	HP:0031365	Macular purpura	1	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0000979	HP:0031365	Macular purpura	1	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1		56
HP:0000979	HP:0031365	Macular purpura	1	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		116
HP:0000979	HP:0031365	Macular purpura	1	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2		2
HP:0000979	HP:0031365	Macular purpura	1	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0000979	HP:0031365	Macular purpura	1	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0000979	HP:0031365	Macular purpura	1	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic		7
HP:0000979	HP:0031365	Macular purpura	1	WAS CL E G H	7454	12731	OMIM:313900	Thrombocytopenia 1		65
HP:0000979	HP:0031365	Macular purpura	1	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0000979	HP:0031365	Macular purpura	1	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome		65
HP:0000979	HP:0031365	Macular purpura	1	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome		6
HP:0000979	HP:0031365	Macular purpura	1	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia		1
HP:0000979	HP:0031364	Ecchymosis	2	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.	95
HP:0000979	HP:0000967	Petechiae	2	APOE CL E G H	348	613	ORPHA:158029	Sea-blue histiocytosis	HP:0040281 - Very frequent	39
HP:0000979	HP:0031364	Ecchymosis	2	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0000979	HP:0031364	Ecchymosis	2	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	101
HP:0000979	HP:0000967	Petechiae	2	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	101
HP:0000979	HP:0031364	Ecchymosis	2	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0000979	HP:0031364	Ecchymosis	2	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	1
HP:0000979	HP:0000967	Petechiae	2	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	1
HP:0000979	HP:0000967	Petechiae	2	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0000979	HP:0000967	Petechiae	2	CD109 CL E G H	135228	21685	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040282 - Frequent
HP:0000979	HP:0031364	Ecchymosis	2	CD109 CL E G H	135228	21685	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040283 - Occasional
HP:0000979	HP:0031364	Ecchymosis	2	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0000979	HP:0031364	Ecchymosis	2	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1	.	27
HP:0000979	HP:0000967	Petechiae	2	CLCN7 CL E G H	1186	2025	OMIM:611490	Osteopetrosis, autosomal recessive 4	.	102
HP:0000979	HP:0031364	Ecchymosis	2	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	373
HP:0000979	HP:0031364	Ecchymosis	2	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0000979	HP:0031364	Ecchymosis	2	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	660
HP:0000979	HP:0031364	Ecchymosis	2	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	325
HP:0000979	HP:0000967	Petechiae	2	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic	.	42
HP:0000979	HP:0000967	Petechiae	2	ETHE1 CL E G H	23474	23287	ORPHA:51188	Ethylmalonic encephalopathy	HP:0040282 - Frequent	42
HP:0000979	HP:0000967	Petechiae	2	ETV6 CL E G H	2120	3495	OMIM:616216	Thrombocytopenia 5	.	13
HP:0000979	HP:0031364	Ecchymosis	2	F13A1 CL E G H	2162	3531	ORPHA:331	Congenital factor XIII deficiency	HP:0040283 - Occasional	60
HP:0000979	HP:0031364	Ecchymosis	2	F13A1 CL E G H	2162	3531	OMIM:613225	Factor XIII, A subunit, deficiency of	.	60
HP:0000979	HP:0031364	Ecchymosis	2	F13B CL E G H	2165	3534	ORPHA:331	Congenital factor XIII deficiency	HP:0040283 - Occasional	32
HP:0000979	HP:0031364	Ecchymosis	2	F13B CL E G H	2165	3534	OMIM:613235	Factor XIIIB deficiency	.	32
HP:0000979	HP:0031364	Ecchymosis	2	F2 CL E G H	2147	3535	OMIM:613679	Congenital prothrombin deficiency	.	44
HP:0000979	HP:0000967	Petechiae	2	FCGR2C CL E G H	9103	15626	ORPHA:3002	Immune thrombocytopenia	HP:0040282 - Frequent
HP:0000979	HP:0000967	Petechiae	2	FERMT3 CL E G H	83706	23151	OMIM:612840	Leukocyte adhesion deficiency, type III	.	23
HP:0000979	HP:0031364	Ecchymosis	2	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	4
HP:0000979	HP:0000967	Petechiae	2	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	4
HP:0000979	HP:0000967	Petechiae	2	FYB1 CL E G H	2533	4036	OMIM:273900	THROMBOCYTOPENIA 3; THC3		4
HP:0000979	HP:0000967	Petechiae	2	GATA1 CL E G H	2623	4170	OMIM:314050	Thrombocytopenia with beta-thalassemia, X-linked	.	29
HP:0000979	HP:0000967	Petechiae	2	GATA1 CL E G H	2623	4170	OMIM:300367	Thrombocytopenia, X-linked, with or without dyserythropoietic anemia	.	29
HP:0000979	HP:0000967	Petechiae	2	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal	.
HP:0000979	HP:0031364	Ecchymosis	2	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040284 - Very rare
HP:0000979	HP:0000967	Petechiae	2	GFI1B CL E G H	8328	4238	OMIM:187900	Bleeding disorder, platelet-type, 17	.	3
HP:0000979	HP:0031364	Ecchymosis	2	GFI1B CL E G H	8328	4238	OMIM:187900	Bleeding disorder, platelet-type, 17	.	3
HP:0000979	HP:0031364	Ecchymosis	2	GGCX CL E G H	2677	4247	OMIM:277450	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1	.	129
HP:0000979	HP:0000967	Petechiae	2	GIMAP5 CL E G H	55340	18005	OMIM:619463	PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0000979	HP:0031364	Ecchymosis	2	GIMAP5 CL E G H	55340	18005	OMIM:619463	PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0000979	HP:0000967	Petechiae	2	GNA14 CL E G H	9630	4382	ORPHA:1063	Tufted angioma	HP:0040283 - Occasional
HP:0000979	HP:0000967	Petechiae	2	GP1BA CL E G H	2811	4439	ORPHA:274	Bernard-Soulier syndrome	HP:0040282 - Frequent	23
HP:0000979	HP:0000967	Petechiae	2	GP1BA CL E G H	2811	4439	OMIM:153670	Bernard-Soulier syndrome, type A2, autosomal dominant	.	23
HP:0000979	HP:0031364	Ecchymosis	2	GP1BA CL E G H	2811	4439	OMIM:153670	Bernard-Soulier syndrome, type A2, autosomal dominant	.	23
HP:0000979	HP:0000967	Petechiae	2	GP1BA CL E G H	2811	4439	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040282 - Frequent	23
HP:0000979	HP:0031364	Ecchymosis	2	GP1BA CL E G H	2811	4439	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040283 - Occasional	23
HP:0000979	HP:0000967	Petechiae	2	GP1BB CL E G H	2812	4440	ORPHA:274	Bernard-Soulier syndrome	HP:0040282 - Frequent	8
HP:0000979	HP:0031364	Ecchymosis	2	GP1BB CL E G H	2812	4440	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040283 - Occasional	8
HP:0000979	HP:0000967	Petechiae	2	GP1BB CL E G H	2812	4440	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040282 - Frequent	8
HP:0000979	HP:0031364	Ecchymosis	2	GP6 CL E G H	51206	14388	OMIM:614201	Bleeding disorder, platelet-type, 11	.	24
HP:0000979	HP:0000967	Petechiae	2	GP9 CL E G H	2815	4444	ORPHA:274	Bernard-Soulier syndrome	HP:0040282 - Frequent	21
HP:0000979	HP:0000967	Petechiae	2	HOXA11 CL E G H	3207	5101	OMIM:605432	Radioulnar synostosis with amegakaryocytic thrombocytopenia	.	3
HP:0000979	HP:0031364	Ecchymosis	2	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1		121
HP:0000979	HP:0031364	Ecchymosis	2	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6		45
HP:0000979	HP:0031364	Ecchymosis	2	IFNG CL E G H	3458	5438	ORPHA:88	Idiopathic aplastic anemia	HP:0040283 - Occasional	23
HP:0000979	HP:0000967	Petechiae	2	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	4
HP:0000979	HP:0031364	Ecchymosis	2	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	4
HP:0000979	HP:0031364	Ecchymosis	2	ITGA2 CL E G H	3673	6137	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040283 - Occasional	119
HP:0000979	HP:0000967	Petechiae	2	ITGA2 CL E G H	3673	6137	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040282 - Frequent	119
HP:0000979	HP:0000967	Petechiae	2	ITGA2B CL E G H	3674	6138	OMIM:187800	Bleeding disorder, platelet-type, 16	.	69
HP:0000979	HP:0031364	Ecchymosis	2	ITGA2B CL E G H	3674	6138	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040283 - Occasional	69
HP:0000979	HP:0000967	Petechiae	2	ITGA2B CL E G H	3674	6138	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040282 - Frequent	69
HP:0000979	HP:0031364	Ecchymosis	2	ITGA2B CL E G H	3674	6138	ORPHA:849	Glanzmann thrombasthenia	HP:0040283 - Occasional	69
HP:0000979	HP:0031364	Ecchymosis	2	ITGA2B CL E G H	3674	6138	OMIM:273800	Glanzmann thrombasthenia		69
HP:0000979	HP:0031364	Ecchymosis	2	ITGB3 CL E G H	3690	6156	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040283 - Occasional	80
HP:0000979	HP:0000967	Petechiae	2	ITGB3 CL E G H	3690	6156	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040282 - Frequent	80
HP:0000979	HP:0031364	Ecchymosis	2	ITGB3 CL E G H	3690	6156	ORPHA:849	Glanzmann thrombasthenia	HP:0040283 - Occasional	80
HP:0000979	HP:0000967	Petechiae	2	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	57
HP:0000979	HP:0031364	Ecchymosis	2	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	57
HP:0000979	HP:0000967	Petechiae	2	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0000979	HP:0000967	Petechiae	2	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	97
HP:0000979	HP:0031364	Ecchymosis	2	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	97
HP:0000979	HP:0031364	Ecchymosis	2	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0000979	HP:0000967	Petechiae	2	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0000979	HP:0000967	Petechiae	2	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2	HP:0040283 - Occasional	43
HP:0000979	HP:0000967	Petechiae	2	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	12
HP:0000979	HP:0031364	Ecchymosis	2	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	12
HP:0000979	HP:0031364	Ecchymosis	2	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0000979	HP:0000967	Petechiae	2	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0000979	HP:0031364	Ecchymosis	2	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0000979	HP:0000967	Petechiae	2	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria	.	23
HP:0000979	HP:0031364	Ecchymosis	2	P2RY12 CL E G H	64805	18124	OMIM:609821	Bleeding disorder, platelet-type, 8	.	5
HP:0000979	HP:0000967	Petechiae	2	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency		66
HP:0000979	HP:0000967	Petechiae	2	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	3
HP:0000979	HP:0031364	Ecchymosis	2	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	3
HP:0000979	HP:0031364	Ecchymosis	2	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	58
HP:0000979	HP:0000967	Petechiae	2	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	58
HP:0000979	HP:0031364	Ecchymosis	2	PRF1 CL E G H	5551	9360	ORPHA:88	Idiopathic aplastic anemia	HP:0040283 - Occasional	58
HP:0000979	HP:0000967	Petechiae	2	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	134
HP:0000979	HP:0031364	Ecchymosis	2	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	134
HP:0000979	HP:0000967	Petechiae	2	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2	HP:0040283 - Occasional	67
HP:0000979	HP:0031364	Ecchymosis	2	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	2
HP:0000979	HP:0000967	Petechiae	2	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	2
HP:0000979	HP:0000967	Petechiae	2	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome	.	8
HP:0000979	HP:0031364	Ecchymosis	2	SBDS CL E G H	51119	19440	ORPHA:88	Idiopathic aplastic anemia	HP:0040283 - Occasional	26
HP:0000979	HP:0031364	Ecchymosis	2	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	110
HP:0000979	HP:0000967	Petechiae	2	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	110
HP:0000979	HP:0000967	Petechiae	2	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	12
HP:0000979	HP:0031364	Ecchymosis	2	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	12
HP:0000979	HP:0000967	Petechiae	2	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	85
HP:0000979	HP:0031364	Ecchymosis	2	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	85
HP:0000979	HP:0031364	Ecchymosis	2	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	70
HP:0000979	HP:0000967	Petechiae	2	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	70
HP:0000979	HP:0000967	Petechiae	2	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	22
HP:0000979	HP:0031364	Ecchymosis	2	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	22
HP:0000979	HP:0031364	Ecchymosis	2	TBXA2R CL E G H	6915	11608	OMIM:614009	BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO; BDPLT13		10
HP:0000979	HP:0031364	Ecchymosis	2	TERC CL E G H	7012	11727	ORPHA:88	Idiopathic aplastic anemia	HP:0040283 - Occasional	48
HP:0000979	HP:0031364	Ecchymosis	2	TERT CL E G H	7015	11730	ORPHA:88	Idiopathic aplastic anemia	HP:0040283 - Occasional	238
HP:0000979	HP:0000967	Petechiae	2	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	3
HP:0000979	HP:0031364	Ecchymosis	2	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	3
HP:0000979	HP:0031364	Ecchymosis	2	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0000979	HP:0000967	Petechiae	2	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1		56
HP:0000979	HP:0000967	Petechiae	2	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	116
HP:0000979	HP:0031364	Ecchymosis	2	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	116
HP:0000979	HP:0000967	Petechiae	2	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2	.	2
HP:0000979	HP:0031364	Ecchymosis	2	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0000979	HP:0031364	Ecchymosis	2	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0000979	HP:0031364	Ecchymosis	2	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.	7
HP:0000979	HP:0000967	Petechiae	2	WAS CL E G H	7454	12731	OMIM:313900	Thrombocytopenia 1	.	65
HP:0000979	HP:0000967	Petechiae	2	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040282 - Frequent	65
HP:0000979	HP:0000967	Petechiae	2	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome	.	65
HP:0000979	HP:0000967	Petechiae	2	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040282 - Frequent	6
HP:0000979	HP:0031364	Ecchymosis	2	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	1
HP:0000979	HP:0000967	Petechiae	2	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	1

Genes (120) :ACP5 ADA2 AIP APOE ARL6IP6 ARVCF ATRX BCOR BRAF C2 C4A CALR CASP10 CD109 CD19 CD81 CDH23 CFH CFHR1 CFHR3 CHST14 CLCN7 COL1A1 COL3A1 COL5A1 COL5A2 COMT CR2 CTLA4 ETHE1 ETV6 F13A1 F13B F2 FCGR2C FERMT3 FIP1L1 FYB1 GATA1 GBA1 GFI1B GGCX GIMAP5 GNA11 GNA14 GP1BA GP1BB GP6 GP9 HIRA HLA-DPA1 HLA-DPB1 HOXA11 HPS1 HPS6 ICOS IFNG IRF2BP2 ITGA2 ITGA2B ITGB3 JAK2 JMJD1C LCP2 MPL MS4A1 MVK MYD88 NABP1 NEU1 NFKB1 NFKB2 NLRP3 NPM1 NR3C1 NUMA1 OCLN ORAI1 P2RY12 PEPD PML PRF1 PRKAR1A PRKCD PROC PROS1 PRTN3 PTPN22 RAB27A RARA RREB1 SAMD9 SBDS SEC24C SH2B3 STAT3 STAT5B STIM1 STX11 STXBP2 TBL1XR1 TBX1 TBXA2R TERC TERT TET2 TFR2 TNFRSF13B TNFRSF13C TNFSF12 TP53 TREX1 UFD1 UNC13D USP18 USP48 USP8 WAS WIPF1 ZBTB16

Diseases (75) :OMIM:607944 OMIM:615688 OMIM:219090 ORPHA:158029 ORPHA:1556 ORPHA:567 ORPHA:96253 ORPHA:520 OMIM:217000 OMIM:614380 OMIM:254450 ORPHA:824 OMIM:603909 ORPHA:853 ORPHA:1572 OMIM:613496 OMIM:235400 OMIM:601776 OMIM:611490 ORPHA:287 OMIM:130050 ORPHA:900 OMIM:602473 ORPHA:51188 OMIM:616216 ORPHA:331 OMIM:613225 OMIM:613235 OMIM:613679 ORPHA:3002 OMIM:612840 OMIM:273900 OMIM:314050 OMIM:300367 OMIM:608013 ORPHA:2072 OMIM:187900 OMIM:277450 OMIM:619463 ORPHA:1063 ORPHA:274 OMIM:153670 OMIM:231200 OMIM:614201 OMIM:605432 OMIM:203300 OMIM:614075 ORPHA:88 OMIM:187800 OMIM:273800 ORPHA:849 OMIM:619374 ORPHA:343 ORPHA:33226 ORPHA:93400 ORPHA:1451 OMIM:251290 ORPHA:3204 OMIM:609821 OMIM:170100 ORPHA:540 ORPHA:745 OMIM:612304 ORPHA:743 OMIM:614514 OMIM:612336 ORPHA:79477 OMIM:617053 OMIM:614009 OMIM:604250 OMIM:225750 OMIM:617397 OMIM:313900 ORPHA:906 OMIM:301000

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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