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:
Purpura (HP:0000979)

Parent Node:
Macular purpura (HP:0031365)

..Starting node
..Ecchymosis (HP:0031364)

Term ID:

31364

Name:

Ecchymosis

Synonym:

Ecchymoses

Definition:

A purpuric lesion that is larger than 1 cm in diameter.

Comments:

Reference:

HP:0031364

Genes and Diseases:

Child Nodes:

Sister Nodes:

Petechiae (HP:0000967)

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:0031364	HP:0031364	Ecchymosis	0	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.	95
HP:0031364	HP:0031364	Ecchymosis	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0031364	HP:0031364	Ecchymosis	0	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	101
HP:0031364	HP:0031364	Ecchymosis	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0031364	HP:0031364	Ecchymosis	0	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	1
HP:0031364	HP:0031364	Ecchymosis	0	CD109 CL E G H	135228	21685	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040283 - Occasional
HP:0031364	HP:0031364	Ecchymosis	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0031364	HP:0031364	Ecchymosis	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1	.	27
HP:0031364	HP:0031364	Ecchymosis	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	373
HP:0031364	HP:0031364	Ecchymosis	0	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0031364	HP:0031364	Ecchymosis	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	660
HP:0031364	HP:0031364	Ecchymosis	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	325
HP:0031364	HP:0031364	Ecchymosis	0	F13A1 CL E G H	2162	3531	ORPHA:331	Congenital factor XIII deficiency	HP:0040283 - Occasional	60
HP:0031364	HP:0031364	Ecchymosis	0	F13A1 CL E G H	2162	3531	OMIM:613225	Factor XIII, A subunit, deficiency of	.	60
HP:0031364	HP:0031364	Ecchymosis	0	F13B CL E G H	2165	3534	ORPHA:331	Congenital factor XIII deficiency	HP:0040283 - Occasional	32
HP:0031364	HP:0031364	Ecchymosis	0	F13B CL E G H	2165	3534	OMIM:613235	Factor XIIIB deficiency	.	32
HP:0031364	HP:0031364	Ecchymosis	0	F2 CL E G H	2147	3535	OMIM:613679	Congenital prothrombin deficiency	.	44
HP:0031364	HP:0031364	Ecchymosis	0	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	4
HP:0031364	HP:0031364	Ecchymosis	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040284 - Very rare
HP:0031364	HP:0031364	Ecchymosis	0	GFI1B CL E G H	8328	4238	OMIM:187900	Bleeding disorder, platelet-type, 17	.	3
HP:0031364	HP:0031364	Ecchymosis	0	GGCX CL E G H	2677	4247	OMIM:277450	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1	.	129
HP:0031364	HP:0031364	Ecchymosis	0	GIMAP5 CL E G H	55340	18005	OMIM:619463	PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0031364	HP:0031364	Ecchymosis	0	GP1BA CL E G H	2811	4439	OMIM:153670	Bernard-Soulier syndrome, type A2, autosomal dominant	.	23
HP:0031364	HP:0031364	Ecchymosis	0	GP1BA CL E G H	2811	4439	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040283 - Occasional	23
HP:0031364	HP:0031364	Ecchymosis	0	GP1BB CL E G H	2812	4440	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040283 - Occasional	8
HP:0031364	HP:0031364	Ecchymosis	0	GP6 CL E G H	51206	14388	OMIM:614201	Bleeding disorder, platelet-type, 11	.	24
HP:0031364	HP:0031364	Ecchymosis	0	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1		121
HP:0031364	HP:0031364	Ecchymosis	0	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6		45
HP:0031364	HP:0031364	Ecchymosis	0	IFNG CL E G H	3458	5438	ORPHA:88	Idiopathic aplastic anemia	HP:0040283 - Occasional	23
HP:0031364	HP:0031364	Ecchymosis	0	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	4
HP:0031364	HP:0031364	Ecchymosis	0	ITGA2 CL E G H	3673	6137	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040283 - Occasional	119
HP:0031364	HP:0031364	Ecchymosis	0	ITGA2B CL E G H	3674	6138	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040283 - Occasional	69
HP:0031364	HP:0031364	Ecchymosis	0	ITGA2B CL E G H	3674	6138	ORPHA:849	Glanzmann thrombasthenia	HP:0040283 - Occasional	69
HP:0031364	HP:0031364	Ecchymosis	0	ITGA2B CL E G H	3674	6138	OMIM:273800	Glanzmann thrombasthenia		69
HP:0031364	HP:0031364	Ecchymosis	0	ITGB3 CL E G H	3690	6156	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040283 - Occasional	80
HP:0031364	HP:0031364	Ecchymosis	0	ITGB3 CL E G H	3690	6156	ORPHA:849	Glanzmann thrombasthenia	HP:0040283 - Occasional	80
HP:0031364	HP:0031364	Ecchymosis	0	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	57
HP:0031364	HP:0031364	Ecchymosis	0	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	97
HP:0031364	HP:0031364	Ecchymosis	0	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0031364	HP:0031364	Ecchymosis	0	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	12
HP:0031364	HP:0031364	Ecchymosis	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0031364	HP:0031364	Ecchymosis	0	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0031364	HP:0031364	Ecchymosis	0	P2RY12 CL E G H	64805	18124	OMIM:609821	Bleeding disorder, platelet-type, 8	.	5
HP:0031364	HP:0031364	Ecchymosis	0	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	3
HP:0031364	HP:0031364	Ecchymosis	0	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	58
HP:0031364	HP:0031364	Ecchymosis	0	PRF1 CL E G H	5551	9360	ORPHA:88	Idiopathic aplastic anemia	HP:0040283 - Occasional	58
HP:0031364	HP:0031364	Ecchymosis	0	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	134
HP:0031364	HP:0031364	Ecchymosis	0	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	2
HP:0031364	HP:0031364	Ecchymosis	0	SBDS CL E G H	51119	19440	ORPHA:88	Idiopathic aplastic anemia	HP:0040283 - Occasional	26
HP:0031364	HP:0031364	Ecchymosis	0	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	110
HP:0031364	HP:0031364	Ecchymosis	0	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	12
HP:0031364	HP:0031364	Ecchymosis	0	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	85
HP:0031364	HP:0031364	Ecchymosis	0	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	70
HP:0031364	HP:0031364	Ecchymosis	0	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	22
HP:0031364	HP:0031364	Ecchymosis	0	TBXA2R CL E G H	6915	11608	OMIM:614009	BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO; BDPLT13		10
HP:0031364	HP:0031364	Ecchymosis	0	TERC CL E G H	7012	11727	ORPHA:88	Idiopathic aplastic anemia	HP:0040283 - Occasional	48
HP:0031364	HP:0031364	Ecchymosis	0	TERT CL E G H	7015	11730	ORPHA:88	Idiopathic aplastic anemia	HP:0040283 - Occasional	238
HP:0031364	HP:0031364	Ecchymosis	0	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	3
HP:0031364	HP:0031364	Ecchymosis	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0031364	HP:0031364	Ecchymosis	0	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	116
HP:0031364	HP:0031364	Ecchymosis	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0031364	HP:0031364	Ecchymosis	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0031364	HP:0031364	Ecchymosis	0	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.	7
HP:0031364	HP:0031364	Ecchymosis	0	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	1

Genes (56) :AIP ATRX BCOR BRAF CALR CD109 CDH23 CHST14 COL1A1 COL3A1 COL5A1 COL5A2 F13A1 F13B F2 FIP1L1 GBA1 GFI1B GGCX GIMAP5 GP1BA GP1BB GP6 HPS1 HPS6 IFNG IRF2BP2 ITGA2 ITGA2B ITGB3 JAK2 MPL NABP1 NPM1 NR3C1 NUMA1 P2RY12 PML PRF1 PRKAR1A RARA SBDS STAT3 STAT5B STX11 STXBP2 TBL1XR1 TBXA2R TERC TERT TET2 TP53 UNC13D USP48 USP8 ZBTB16

Diseases (26) :OMIM:219090 ORPHA:96253 ORPHA:520 ORPHA:824 ORPHA:853 OMIM:601776 ORPHA:287 OMIM:130050 ORPHA:331 OMIM:613225 OMIM:613235 OMIM:613679 ORPHA:2072 OMIM:187900 OMIM:277450 OMIM:619463 OMIM:153670 OMIM:614201 OMIM:203300 OMIM:614075 ORPHA:88 ORPHA:849 OMIM:273800 OMIM:609821 ORPHA:540 OMIM:614009

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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