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:
Subcutaneous hemorrhage (HP:0001933)

Parent Node:
Purpura (HP:0000979)

..Starting node
..Macular purpura (HP:0031365)

Term ID:

31365

Name:

Macular purpura

Synonym:

Flat purpura

Definition:

Purpura that is flat (non-palpable, not raised).

Comments:

Reference:

HP:0031365

Genes and Diseases:

Child Nodes:

........

Petechiae (HP:0000967)

........

Ecchymosis (HP:0031364)

Sister Nodes:

Palpable purpura (HP:0031363)

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:0031365	HP:0031365	Macular purpura	0	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic		95
HP:0031365	HP:0031365	Macular purpura	0	APOE CL E G H	348	613	ORPHA:158029	Sea-blue histiocytosis		39
HP:0031365	HP:0031365	Macular purpura	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0031365	HP:0031365	Macular purpura	0	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia		101
HP:0031365	HP:0031365	Macular purpura	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0031365	HP:0031365	Macular purpura	0	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis		1
HP:0031365	HP:0031365	Macular purpura	0	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0031365	HP:0031365	Macular purpura	0	CD109 CL E G H	135228	21685	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia
HP:0031365	HP:0031365	Macular purpura	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0031365	HP:0031365	Macular purpura	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1		27
HP:0031365	HP:0031365	Macular purpura	0	CLCN7 CL E G H	1186	2025	OMIM:611490	Osteopetrosis, autosomal recessive 4		102
HP:0031365	HP:0031365	Macular purpura	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome		373
HP:0031365	HP:0031365	Macular purpura	0	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0031365	HP:0031365	Macular purpura	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome		660
HP:0031365	HP:0031365	Macular purpura	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome		325
HP:0031365	HP:0031365	Macular purpura	0	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic		42
HP:0031365	HP:0031365	Macular purpura	0	ETHE1 CL E G H	23474	23287	ORPHA:51188	Ethylmalonic encephalopathy		42
HP:0031365	HP:0031365	Macular purpura	0	ETV6 CL E G H	2120	3495	OMIM:616216	Thrombocytopenia 5		13
HP:0031365	HP:0031365	Macular purpura	0	F13A1 CL E G H	2162	3531	ORPHA:331	Congenital factor XIII deficiency		60
HP:0031365	HP:0031365	Macular purpura	0	F13A1 CL E G H	2162	3531	OMIM:613225	Factor XIII, A subunit, deficiency of		60
HP:0031365	HP:0031365	Macular purpura	0	F13B CL E G H	2165	3534	ORPHA:331	Congenital factor XIII deficiency		32
HP:0031365	HP:0031365	Macular purpura	0	F13B CL E G H	2165	3534	OMIM:613235	Factor XIIIB deficiency		32
HP:0031365	HP:0031365	Macular purpura	0	F2 CL E G H	2147	3535	OMIM:613679	Congenital prothrombin deficiency		44
HP:0031365	HP:0031365	Macular purpura	0	FCGR2C CL E G H	9103	15626	ORPHA:3002	Immune thrombocytopenia
HP:0031365	HP:0031365	Macular purpura	0	FERMT3 CL E G H	83706	23151	OMIM:612840	Leukocyte adhesion deficiency, type III		23
HP:0031365	HP:0031365	Macular purpura	0	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia		4
HP:0031365	HP:0031365	Macular purpura	0	FYB1 CL E G H	2533	4036	OMIM:273900	THROMBOCYTOPENIA 3; THC3		4
HP:0031365	HP:0031365	Macular purpura	0	GATA1 CL E G H	2623	4170	OMIM:314050	Thrombocytopenia with beta-thalassemia, X-linked		29
HP:0031365	HP:0031365	Macular purpura	0	GATA1 CL E G H	2623	4170	OMIM:300367	Thrombocytopenia, X-linked, with or without dyserythropoietic anemia		29
HP:0031365	HP:0031365	Macular purpura	0	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0031365	HP:0031365	Macular purpura	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0031365	HP:0031365	Macular purpura	0	GFI1B CL E G H	8328	4238	OMIM:187900	Bleeding disorder, platelet-type, 17		3
HP:0031365	HP:0031365	Macular purpura	0	GGCX CL E G H	2677	4247	OMIM:277450	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1		129
HP:0031365	HP:0031365	Macular purpura	0	GIMAP5 CL E G H	55340	18005	OMIM:619463	PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0031365	HP:0031365	Macular purpura	0	GNA14 CL E G H	9630	4382	ORPHA:1063	Tufted angioma
HP:0031365	HP:0031365	Macular purpura	0	GP1BA CL E G H	2811	4439	ORPHA:274	Bernard-Soulier syndrome		23
HP:0031365	HP:0031365	Macular purpura	0	GP1BA CL E G H	2811	4439	OMIM:153670	Bernard-Soulier syndrome, type A2, autosomal dominant		23
HP:0031365	HP:0031365	Macular purpura	0	GP1BA CL E G H	2811	4439	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia		23
HP:0031365	HP:0031365	Macular purpura	0	GP1BB CL E G H	2812	4440	ORPHA:274	Bernard-Soulier syndrome		8
HP:0031365	HP:0031365	Macular purpura	0	GP1BB CL E G H	2812	4440	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia		8
HP:0031365	HP:0031365	Macular purpura	0	GP6 CL E G H	51206	14388	OMIM:614201	Bleeding disorder, platelet-type, 11		24
HP:0031365	HP:0031365	Macular purpura	0	GP9 CL E G H	2815	4444	ORPHA:274	Bernard-Soulier syndrome		21
HP:0031365	HP:0031365	Macular purpura	0	HOXA11 CL E G H	3207	5101	OMIM:605432	Radioulnar synostosis with amegakaryocytic thrombocytopenia		3
HP:0031365	HP:0031365	Macular purpura	0	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1		121
HP:0031365	HP:0031365	Macular purpura	0	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6		45
HP:0031365	HP:0031365	Macular purpura	0	IFNG CL E G H	3458	5438	ORPHA:88	Idiopathic aplastic anemia		23
HP:0031365	HP:0031365	Macular purpura	0	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia		4
HP:0031365	HP:0031365	Macular purpura	0	ITGA2 CL E G H	3673	6137	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia		119
HP:0031365	HP:0031365	Macular purpura	0	ITGA2B CL E G H	3674	6138	OMIM:187800	Bleeding disorder, platelet-type, 16		69
HP:0031365	HP:0031365	Macular purpura	0	ITGA2B CL E G H	3674	6138	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia		69
HP:0031365	HP:0031365	Macular purpura	0	ITGA2B CL E G H	3674	6138	ORPHA:849	Glanzmann thrombasthenia		69
HP:0031365	HP:0031365	Macular purpura	0	ITGA2B CL E G H	3674	6138	OMIM:273800	Glanzmann thrombasthenia		69
HP:0031365	HP:0031365	Macular purpura	0	ITGB3 CL E G H	3690	6156	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia		80
HP:0031365	HP:0031365	Macular purpura	0	ITGB3 CL E G H	3690	6156	ORPHA:849	Glanzmann thrombasthenia		80
HP:0031365	HP:0031365	Macular purpura	0	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis		57
HP:0031365	HP:0031365	Macular purpura	0	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0031365	HP:0031365	Macular purpura	0	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis		97
HP:0031365	HP:0031365	Macular purpura	0	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia
HP:0031365	HP:0031365	Macular purpura	0	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2		43
HP:0031365	HP:0031365	Macular purpura	0	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia		12
HP:0031365	HP:0031365	Macular purpura	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0031365	HP:0031365	Macular purpura	0	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia
HP:0031365	HP:0031365	Macular purpura	0	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria		23
HP:0031365	HP:0031365	Macular purpura	0	P2RY12 CL E G H	64805	18124	OMIM:609821	Bleeding disorder, platelet-type, 8		5
HP:0031365	HP:0031365	Macular purpura	0	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency		66
HP:0031365	HP:0031365	Macular purpura	0	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia		3
HP:0031365	HP:0031365	Macular purpura	0	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		58
HP:0031365	HP:0031365	Macular purpura	0	PRF1 CL E G H	5551	9360	ORPHA:88	Idiopathic aplastic anemia		58
HP:0031365	HP:0031365	Macular purpura	0	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia		134
HP:0031365	HP:0031365	Macular purpura	0	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2		67
HP:0031365	HP:0031365	Macular purpura	0	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia		2
HP:0031365	HP:0031365	Macular purpura	0	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome		8
HP:0031365	HP:0031365	Macular purpura	0	SBDS CL E G H	51119	19440	ORPHA:88	Idiopathic aplastic anemia		26
HP:0031365	HP:0031365	Macular purpura	0	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia		110
HP:0031365	HP:0031365	Macular purpura	0	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia		12
HP:0031365	HP:0031365	Macular purpura	0	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		85
HP:0031365	HP:0031365	Macular purpura	0	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		70
HP:0031365	HP:0031365	Macular purpura	0	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia		22
HP:0031365	HP:0031365	Macular purpura	0	TBXA2R CL E G H	6915	11608	OMIM:614009	BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO; BDPLT13		10
HP:0031365	HP:0031365	Macular purpura	0	TERC CL E G H	7012	11727	ORPHA:88	Idiopathic aplastic anemia		48
HP:0031365	HP:0031365	Macular purpura	0	TERT CL E G H	7015	11730	ORPHA:88	Idiopathic aplastic anemia		238
HP:0031365	HP:0031365	Macular purpura	0	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis		3
HP:0031365	HP:0031365	Macular purpura	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0031365	HP:0031365	Macular purpura	0	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1		56
HP:0031365	HP:0031365	Macular purpura	0	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		116
HP:0031365	HP:0031365	Macular purpura	0	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2		2
HP:0031365	HP:0031365	Macular purpura	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0031365	HP:0031365	Macular purpura	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0031365	HP:0031365	Macular purpura	0	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic		7
HP:0031365	HP:0031365	Macular purpura	0	WAS CL E G H	7454	12731	OMIM:313900	Thrombocytopenia 1		65
HP:0031365	HP:0031365	Macular purpura	0	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome		65
HP:0031365	HP:0031365	Macular purpura	0	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0031365	HP:0031365	Macular purpura	0	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome		6
HP:0031365	HP:0031365	Macular purpura	0	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia		1
HP:0031365	HP:0031364	Ecchymosis	1	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.	95
HP:0031365	HP:0000967	Petechiae	1	APOE CL E G H	348	613	ORPHA:158029	Sea-blue histiocytosis	HP:0040281 - Very frequent	39
HP:0031365	HP:0031364	Ecchymosis	1	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0031365	HP:0000967	Petechiae	1	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	101
HP:0031365	HP:0031364	Ecchymosis	1	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	101
HP:0031365	HP:0031364	Ecchymosis	1	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0031365	HP:0031364	Ecchymosis	1	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	1
HP:0031365	HP:0000967	Petechiae	1	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	1
HP:0031365	HP:0000967	Petechiae	1	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0031365	HP:0000967	Petechiae	1	CD109 CL E G H	135228	21685	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040282 - Frequent
HP:0031365	HP:0031364	Ecchymosis	1	CD109 CL E G H	135228	21685	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040283 - Occasional
HP:0031365	HP:0031364	Ecchymosis	1	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0031365	HP:0031364	Ecchymosis	1	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1	.	27
HP:0031365	HP:0000967	Petechiae	1	CLCN7 CL E G H	1186	2025	OMIM:611490	Osteopetrosis, autosomal recessive 4	.	102
HP:0031365	HP:0031364	Ecchymosis	1	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	373
HP:0031365	HP:0031364	Ecchymosis	1	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0031365	HP:0031364	Ecchymosis	1	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	660
HP:0031365	HP:0031364	Ecchymosis	1	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	325
HP:0031365	HP:0000967	Petechiae	1	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic	.	42
HP:0031365	HP:0000967	Petechiae	1	ETHE1 CL E G H	23474	23287	ORPHA:51188	Ethylmalonic encephalopathy	HP:0040282 - Frequent	42
HP:0031365	HP:0000967	Petechiae	1	ETV6 CL E G H	2120	3495	OMIM:616216	Thrombocytopenia 5	.	13
HP:0031365	HP:0031364	Ecchymosis	1	F13A1 CL E G H	2162	3531	ORPHA:331	Congenital factor XIII deficiency	HP:0040283 - Occasional	60
HP:0031365	HP:0031364	Ecchymosis	1	F13A1 CL E G H	2162	3531	OMIM:613225	Factor XIII, A subunit, deficiency of	.	60
HP:0031365	HP:0031364	Ecchymosis	1	F13B CL E G H	2165	3534	ORPHA:331	Congenital factor XIII deficiency	HP:0040283 - Occasional	32
HP:0031365	HP:0031364	Ecchymosis	1	F13B CL E G H	2165	3534	OMIM:613235	Factor XIIIB deficiency	.	32
HP:0031365	HP:0031364	Ecchymosis	1	F2 CL E G H	2147	3535	OMIM:613679	Congenital prothrombin deficiency	.	44
HP:0031365	HP:0000967	Petechiae	1	FCGR2C CL E G H	9103	15626	ORPHA:3002	Immune thrombocytopenia	HP:0040282 - Frequent
HP:0031365	HP:0000967	Petechiae	1	FERMT3 CL E G H	83706	23151	OMIM:612840	Leukocyte adhesion deficiency, type III	.	23
HP:0031365	HP:0000967	Petechiae	1	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	4
HP:0031365	HP:0031364	Ecchymosis	1	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	4
HP:0031365	HP:0000967	Petechiae	1	FYB1 CL E G H	2533	4036	OMIM:273900	THROMBOCYTOPENIA 3; THC3		4
HP:0031365	HP:0000967	Petechiae	1	GATA1 CL E G H	2623	4170	OMIM:314050	Thrombocytopenia with beta-thalassemia, X-linked	.	29
HP:0031365	HP:0000967	Petechiae	1	GATA1 CL E G H	2623	4170	OMIM:300367	Thrombocytopenia, X-linked, with or without dyserythropoietic anemia	.	29
HP:0031365	HP:0000967	Petechiae	1	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal	.
HP:0031365	HP:0031364	Ecchymosis	1	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040284 - Very rare
HP:0031365	HP:0031364	Ecchymosis	1	GFI1B CL E G H	8328	4238	OMIM:187900	Bleeding disorder, platelet-type, 17	.	3
HP:0031365	HP:0000967	Petechiae	1	GFI1B CL E G H	8328	4238	OMIM:187900	Bleeding disorder, platelet-type, 17	.	3
HP:0031365	HP:0031364	Ecchymosis	1	GGCX CL E G H	2677	4247	OMIM:277450	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1	.	129
HP:0031365	HP:0031364	Ecchymosis	1	GIMAP5 CL E G H	55340	18005	OMIM:619463	PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0031365	HP:0000967	Petechiae	1	GIMAP5 CL E G H	55340	18005	OMIM:619463	PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0031365	HP:0000967	Petechiae	1	GNA14 CL E G H	9630	4382	ORPHA:1063	Tufted angioma	HP:0040283 - Occasional
HP:0031365	HP:0000967	Petechiae	1	GP1BA CL E G H	2811	4439	ORPHA:274	Bernard-Soulier syndrome	HP:0040282 - Frequent	23
HP:0031365	HP:0031364	Ecchymosis	1	GP1BA CL E G H	2811	4439	OMIM:153670	Bernard-Soulier syndrome, type A2, autosomal dominant	.	23
HP:0031365	HP:0000967	Petechiae	1	GP1BA CL E G H	2811	4439	OMIM:153670	Bernard-Soulier syndrome, type A2, autosomal dominant	.	23
HP:0031365	HP:0031364	Ecchymosis	1	GP1BA CL E G H	2811	4439	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040283 - Occasional	23
HP:0031365	HP:0000967	Petechiae	1	GP1BA CL E G H	2811	4439	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040282 - Frequent	23
HP:0031365	HP:0000967	Petechiae	1	GP1BB CL E G H	2812	4440	ORPHA:274	Bernard-Soulier syndrome	HP:0040282 - Frequent	8
HP:0031365	HP:0000967	Petechiae	1	GP1BB CL E G H	2812	4440	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040282 - Frequent	8
HP:0031365	HP:0031364	Ecchymosis	1	GP1BB CL E G H	2812	4440	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040283 - Occasional	8
HP:0031365	HP:0031364	Ecchymosis	1	GP6 CL E G H	51206	14388	OMIM:614201	Bleeding disorder, platelet-type, 11	.	24
HP:0031365	HP:0000967	Petechiae	1	GP9 CL E G H	2815	4444	ORPHA:274	Bernard-Soulier syndrome	HP:0040282 - Frequent	21
HP:0031365	HP:0000967	Petechiae	1	HOXA11 CL E G H	3207	5101	OMIM:605432	Radioulnar synostosis with amegakaryocytic thrombocytopenia	.	3
HP:0031365	HP:0031364	Ecchymosis	1	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1		121
HP:0031365	HP:0031364	Ecchymosis	1	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6		45
HP:0031365	HP:0031364	Ecchymosis	1	IFNG CL E G H	3458	5438	ORPHA:88	Idiopathic aplastic anemia	HP:0040283 - Occasional	23
HP:0031365	HP:0000967	Petechiae	1	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	4
HP:0031365	HP:0031364	Ecchymosis	1	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	4
HP:0031365	HP:0031364	Ecchymosis	1	ITGA2 CL E G H	3673	6137	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040283 - Occasional	119
HP:0031365	HP:0000967	Petechiae	1	ITGA2 CL E G H	3673	6137	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040282 - Frequent	119
HP:0031365	HP:0000967	Petechiae	1	ITGA2B CL E G H	3674	6138	OMIM:187800	Bleeding disorder, platelet-type, 16	.	69
HP:0031365	HP:0031364	Ecchymosis	1	ITGA2B CL E G H	3674	6138	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040283 - Occasional	69
HP:0031365	HP:0000967	Petechiae	1	ITGA2B CL E G H	3674	6138	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040282 - Frequent	69
HP:0031365	HP:0031364	Ecchymosis	1	ITGA2B CL E G H	3674	6138	ORPHA:849	Glanzmann thrombasthenia	HP:0040283 - Occasional	69
HP:0031365	HP:0031364	Ecchymosis	1	ITGA2B CL E G H	3674	6138	OMIM:273800	Glanzmann thrombasthenia		69
HP:0031365	HP:0031364	Ecchymosis	1	ITGB3 CL E G H	3690	6156	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040283 - Occasional	80
HP:0031365	HP:0000967	Petechiae	1	ITGB3 CL E G H	3690	6156	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040282 - Frequent	80
HP:0031365	HP:0031364	Ecchymosis	1	ITGB3 CL E G H	3690	6156	ORPHA:849	Glanzmann thrombasthenia	HP:0040283 - Occasional	80
HP:0031365	HP:0031364	Ecchymosis	1	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	57
HP:0031365	HP:0000967	Petechiae	1	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	57
HP:0031365	HP:0000967	Petechiae	1	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0031365	HP:0000967	Petechiae	1	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	97
HP:0031365	HP:0031364	Ecchymosis	1	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	97
HP:0031365	HP:0031364	Ecchymosis	1	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0031365	HP:0000967	Petechiae	1	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0031365	HP:0000967	Petechiae	1	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2	HP:0040283 - Occasional	43
HP:0031365	HP:0031364	Ecchymosis	1	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	12
HP:0031365	HP:0000967	Petechiae	1	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	12
HP:0031365	HP:0031364	Ecchymosis	1	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0031365	HP:0031364	Ecchymosis	1	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0031365	HP:0000967	Petechiae	1	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0031365	HP:0000967	Petechiae	1	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria	.	23
HP:0031365	HP:0031364	Ecchymosis	1	P2RY12 CL E G H	64805	18124	OMIM:609821	Bleeding disorder, platelet-type, 8	.	5
HP:0031365	HP:0000967	Petechiae	1	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency		66
HP:0031365	HP:0000967	Petechiae	1	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	3
HP:0031365	HP:0031364	Ecchymosis	1	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	3
HP:0031365	HP:0000967	Petechiae	1	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	58
HP:0031365	HP:0031364	Ecchymosis	1	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	58
HP:0031365	HP:0031364	Ecchymosis	1	PRF1 CL E G H	5551	9360	ORPHA:88	Idiopathic aplastic anemia	HP:0040283 - Occasional	58
HP:0031365	HP:0000967	Petechiae	1	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	134
HP:0031365	HP:0031364	Ecchymosis	1	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	134
HP:0031365	HP:0000967	Petechiae	1	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2	HP:0040283 - Occasional	67
HP:0031365	HP:0031364	Ecchymosis	1	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	2
HP:0031365	HP:0000967	Petechiae	1	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	2
HP:0031365	HP:0000967	Petechiae	1	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome	.	8
HP:0031365	HP:0031364	Ecchymosis	1	SBDS CL E G H	51119	19440	ORPHA:88	Idiopathic aplastic anemia	HP:0040283 - Occasional	26
HP:0031365	HP:0031364	Ecchymosis	1	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	110
HP:0031365	HP:0000967	Petechiae	1	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	110
HP:0031365	HP:0000967	Petechiae	1	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	12
HP:0031365	HP:0031364	Ecchymosis	1	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	12
HP:0031365	HP:0000967	Petechiae	1	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	85
HP:0031365	HP:0031364	Ecchymosis	1	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	85
HP:0031365	HP:0031364	Ecchymosis	1	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	70
HP:0031365	HP:0000967	Petechiae	1	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	70
HP:0031365	HP:0031364	Ecchymosis	1	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	22
HP:0031365	HP:0000967	Petechiae	1	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	22
HP:0031365	HP:0031364	Ecchymosis	1	TBXA2R CL E G H	6915	11608	OMIM:614009	BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO; BDPLT13		10
HP:0031365	HP:0031364	Ecchymosis	1	TERC CL E G H	7012	11727	ORPHA:88	Idiopathic aplastic anemia	HP:0040283 - Occasional	48
HP:0031365	HP:0031364	Ecchymosis	1	TERT CL E G H	7015	11730	ORPHA:88	Idiopathic aplastic anemia	HP:0040283 - Occasional	238
HP:0031365	HP:0031364	Ecchymosis	1	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	3
HP:0031365	HP:0000967	Petechiae	1	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	3
HP:0031365	HP:0031364	Ecchymosis	1	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0031365	HP:0000967	Petechiae	1	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1		56
HP:0031365	HP:0031364	Ecchymosis	1	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	116
HP:0031365	HP:0000967	Petechiae	1	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	116
HP:0031365	HP:0000967	Petechiae	1	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2	.	2
HP:0031365	HP:0031364	Ecchymosis	1	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0031365	HP:0031364	Ecchymosis	1	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0031365	HP:0031364	Ecchymosis	1	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.	7
HP:0031365	HP:0000967	Petechiae	1	WAS CL E G H	7454	12731	OMIM:313900	Thrombocytopenia 1	.	65
HP:0031365	HP:0000967	Petechiae	1	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040282 - Frequent	65
HP:0031365	HP:0000967	Petechiae	1	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome	.	65
HP:0031365	HP:0000967	Petechiae	1	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040282 - Frequent	6
HP:0031365	HP:0000967	Petechiae	1	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	1
HP:0031365	HP:0031364	Ecchymosis	1	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	1

Genes (78) :AIP APOE ATRX BCOR BRAF CALR CASP10 CD109 CDH23 CHST14 CLCN7 COL1A1 COL3A1 COL5A1 COL5A2 ETHE1 ETV6 F13A1 F13B F2 FCGR2C FERMT3 FIP1L1 FYB1 GATA1 GBA1 GFI1B GGCX GIMAP5 GNA14 GP1BA GP1BB GP6 GP9 HOXA11 HPS1 HPS6 IFNG IRF2BP2 ITGA2 ITGA2B ITGB3 JAK2 LCP2 MPL NABP1 NEU1 NPM1 NR3C1 NUMA1 OCLN P2RY12 PEPD PML PRF1 PRKAR1A RAB27A RARA SAMD9 SBDS STAT3 STAT5B STX11 STXBP2 TBL1XR1 TBXA2R TERC TERT TET2 TP53 TREX1 UNC13D USP18 USP48 USP8 WAS WIPF1 ZBTB16

Diseases (53) :OMIM:219090 ORPHA:158029 ORPHA:96253 ORPHA:520 ORPHA:824 OMIM:603909 ORPHA:853 OMIM:601776 OMIM:611490 ORPHA:287 OMIM:130050 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:614201 OMIM:605432 OMIM:203300 OMIM:614075 ORPHA:88 OMIM:187800 ORPHA:849 OMIM:273800 OMIM:619374 ORPHA:93400 OMIM:251290 OMIM:609821 OMIM:170100 ORPHA:540 ORPHA:79477 OMIM:617053 OMIM:614009 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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