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
..Bruising susceptibility (HP:0000978)

Term ID:

978

Name:

Bruising susceptibility

Synonym:

Bruisability; Bruise easily; Bruising susceptibility; Easy bruisability; Easy bruising

Definition:

An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.

Comments:

Reference:

HP:0000978

Genes and Diseases:

Child Nodes:

Sister Nodes:

Purpura (HP:0000979)

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:0000978	HP:0000978	Bruising susceptibility	0	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum	HP:0040282 - Frequent	415
HP:0000978	HP:0000978	Bruising susceptibility	0	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	94
HP:0000978	HP:0000978	Bruising susceptibility	0	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive	.	165
HP:0000978	HP:0000978	Bruising susceptibility	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040281 - Very frequent
HP:0000978	HP:0000978	Bruising susceptibility	0	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2	.
HP:0000978	HP:0000978	Bruising susceptibility	0	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.	95
HP:0000978	HP:0000978	Bruising susceptibility	0	ANKRD26 CL E G H	22852	29186	OMIM:188000	THROMBOCYTOPENIA 2; THC2		106
HP:0000978	HP:0000978	Bruising susceptibility	0	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia	HP:0040282 - Frequent	7
HP:0000978	HP:0000978	Bruising susceptibility	0	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome	.	192
HP:0000978	HP:0000978	Bruising susceptibility	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040282 - Frequent	192
HP:0000978	HP:0000978	Bruising susceptibility	0	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease	HP:0040281 - Very frequent	315
HP:0000978	HP:0000978	Bruising susceptibility	0	ATRX CL E G H	546	886	ORPHA:231401	Alpha-thalassemia-myelodysplastic syndrome	HP:0040282 - Frequent	169
HP:0000978	HP:0000978	Bruising susceptibility	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease	HP:0040282 - Frequent	169
HP:0000978	HP:0000978	Bruising susceptibility	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040282 - Frequent	38
HP:0000978	HP:0000978	Bruising susceptibility	0	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	101
HP:0000978	HP:0000978	Bruising susceptibility	0	BLOC1S3 CL E G H	388552	20914	OMIM:614077	Hermansky-Pudlak syndrome 8	.	42
HP:0000978	HP:0000978	Bruising susceptibility	0	BLOC1S5 CL E G H	63915	18561	OMIM:619172	HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0000978	HP:0000978	Bruising susceptibility	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease	HP:0040282 - Frequent	276
HP:0000978	HP:0000978	Bruising susceptibility	0	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1		276
HP:0000978	HP:0000978	Bruising susceptibility	0	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1	.	15
HP:0000978	HP:0000978	Bruising susceptibility	0	C1S CL E G H	716	1247	OMIM:617174	Ehlers-Danlos syndrome, periodontal type, 2	.	7
HP:0000978	HP:0000978	Bruising susceptibility	0	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	87
HP:0000978	HP:0000978	Bruising susceptibility	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease	HP:0040282 - Frequent	636
HP:0000978	HP:0000978	Bruising susceptibility	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1	.	27
HP:0000978	HP:0000978	Bruising susceptibility	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent	27
HP:0000978	HP:0000978	Bruising susceptibility	0	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040283 - Occasional	102
HP:0000978	HP:0000978	Bruising susceptibility	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	373
HP:0000978	HP:0000978	Bruising susceptibility	0	COL1A1 CL E G H	1277	2197	OMIM:619115	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1		373
HP:0000978	HP:0000978	Bruising susceptibility	0	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1	.	373
HP:0000978	HP:0000978	Bruising susceptibility	0	COL1A1 CL E G H	1277	2197	OMIM:166200	Osteogenesis imperfecta, type I	.	373
HP:0000978	HP:0000978	Bruising susceptibility	0	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040282 - Frequent	243
HP:0000978	HP:0000978	Bruising susceptibility	0	COL1A2 CL E G H	1278	2198	OMIM:619120	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2; OIEDS2		243
HP:0000978	HP:0000978	Bruising susceptibility	0	COL1A2 CL E G H	1278	2198	OMIM:617821	Ehlers-Danlos syndrome, arthrochalasia type, 2	.	243
HP:0000978	HP:0000978	Bruising susceptibility	0	COL1A2 CL E G H	1278	2198	OMIM:225320	Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form	.	243
HP:0000978	HP:0000978	Bruising susceptibility	0	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0000978	HP:0000978	Bruising susceptibility	0	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome	.	749
HP:0000978	HP:0000978	Bruising susceptibility	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040281 - Very frequent	749
HP:0000978	HP:0000978	Bruising susceptibility	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	660
HP:0000978	HP:0000978	Bruising susceptibility	0	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I		660
HP:0000978	HP:0000978	Bruising susceptibility	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	325
HP:0000978	HP:0000978	Bruising susceptibility	0	COL5A2 CL E G H	1290	2210	OMIM:130010	Ehlers-Danlos syndrome, classic type, 2		325
HP:0000978	HP:0000978	Bruising susceptibility	0	CREB3L1 CL E G H	90993	18856	OMIM:616229	Osteogenesis imperfecta, type XVI		4
HP:0000978	HP:0000978	Bruising susceptibility	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent	13
HP:0000978	HP:0000978	Bruising susceptibility	0	DTNBP1 CL E G H	84062	17328	OMIM:614076	Hermansky-Pudlak syndrome 7	.	46
HP:0000978	HP:0000978	Bruising susceptibility	0	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	172
HP:0000978	HP:0000978	Bruising susceptibility	0	EMILIN1 CL E G H	11117	19880	OMIM:620080			2
HP:0000978	HP:0000978	Bruising susceptibility	0	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum	HP:0040282 - Frequent	151
HP:0000978	HP:0000978	Bruising susceptibility	0	ETV6 CL E G H	2120	3495	OMIM:616216	Thrombocytopenia 5	.	13
HP:0000978	HP:0000978	Bruising susceptibility	0	F10 CL E G H	2159	3528	ORPHA:328	Congenital factor X deficiency	HP:0040283 - Occasional	33
HP:0000978	HP:0000978	Bruising susceptibility	0	F13A1 CL E G H	2162	3531	ORPHA:331	Congenital factor XIII deficiency	HP:0040282 - Frequent	60
HP:0000978	HP:0000978	Bruising susceptibility	0	F13A1 CL E G H	2162	3531	OMIM:613225	Factor XIII, A subunit, deficiency of	.	60
HP:0000978	HP:0000978	Bruising susceptibility	0	F13B CL E G H	2165	3534	ORPHA:331	Congenital factor XIII deficiency	HP:0040282 - Frequent	32
HP:0000978	HP:0000978	Bruising susceptibility	0	F13B CL E G H	2165	3534	OMIM:613235	Factor XIIIB deficiency	.	32
HP:0000978	HP:0000978	Bruising susceptibility	0	F2 CL E G H	2147	3535	OMIM:613679	Congenital prothrombin deficiency	.	44
HP:0000978	HP:0000978	Bruising susceptibility	0	F5 CL E G H	2153	3542	ORPHA:326	Congenital factor V deficiency	HP:0040283 - Occasional	159
HP:0000978	HP:0000978	Bruising susceptibility	0	F5 CL E G H	2153	3542	OMIM:227400	Factor V deficiency	.	159
HP:0000978	HP:0000978	Bruising susceptibility	0	F7 CL E G H	2155	3544	ORPHA:327	Congenital factor VII deficiency	HP:0040282 - Frequent	70
HP:0000978	HP:0000978	Bruising susceptibility	0	F8 CL E G H	2157	3546	ORPHA:177926	Bleeding disorder in hemophilia A carriers without FVIII deficiency	HP:0040281 - Very frequent	303
HP:0000978	HP:0000978	Bruising susceptibility	0	F8 CL E G H	2157	3546	OMIM:306700	Hemophilia A	.	303
HP:0000978	HP:0000978	Bruising susceptibility	0	F8 CL E G H	2157	3546	ORPHA:169802	Severe hemophilia A	HP:0040282 - Frequent	303
HP:0000978	HP:0000978	Bruising susceptibility	0	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia	.	340
HP:0000978	HP:0000978	Bruising susceptibility	0	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C	.	410
HP:0000978	HP:0000978	Bruising susceptibility	0	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2	.	147
HP:0000978	HP:0000978	Bruising susceptibility	0	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E	.	73
HP:0000978	HP:0000978	Bruising susceptibility	0	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	59
HP:0000978	HP:0000978	Bruising susceptibility	0	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	37
HP:0000978	HP:0000978	Bruising susceptibility	0	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	1361
HP:0000978	HP:0000978	Bruising susceptibility	0	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0000978	HP:0000978	Bruising susceptibility	0	FCGR2C CL E G H	9103	15626	ORPHA:3002	Immune thrombocytopenia	HP:0040283 - Occasional
HP:0000978	HP:0000978	Bruising susceptibility	0	FGA CL E G H	2243	3661	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		47
HP:0000978	HP:0000978	Bruising susceptibility	0	FGB CL E G H	2244	3662	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		62
HP:0000978	HP:0000978	Bruising susceptibility	0	FGG CL E G H	2266	3694	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		34
HP:0000978	HP:0000978	Bruising susceptibility	0	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	4
HP:0000978	HP:0000978	Bruising susceptibility	0	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2	HP:0040283 - Occasional	13
HP:0000978	HP:0000978	Bruising susceptibility	0	FKBP14 CL E G H	55033	18625	ORPHA:300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency	HP:0040282 - Frequent	13
HP:0000978	HP:0000978	Bruising susceptibility	0	FLNA CL E G H	2316	3754	ORPHA:75497	X-linked Ehlers-Danlos syndrome	HP:0040281 - Very frequent	493
HP:0000978	HP:0000978	Bruising susceptibility	0	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	23
HP:0000978	HP:0000978	Bruising susceptibility	0	GATA1 CL E G H	2623	4170	OMIM:314050	Thrombocytopenia with beta-thalassemia, X-linked	.	29
HP:0000978	HP:0000978	Bruising susceptibility	0	GATA1 CL E G H	2623	4170	OMIM:300367	Thrombocytopenia, X-linked, with or without dyserythropoietic anemia	.	29
HP:0000978	HP:0000978	Bruising susceptibility	0	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome	HP:0040282 - Frequent	137
HP:0000978	HP:0000978	Bruising susceptibility	0	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1	HP:0040282 - Frequent
HP:0000978	HP:0000978	Bruising susceptibility	0	GFI1B CL E G H	8328	4238	OMIM:187900	Bleeding disorder, platelet-type, 17	.	3
HP:0000978	HP:0000978	Bruising susceptibility	0	GGCX CL E G H	2677	4247	OMIM:277450	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1	.	129
HP:0000978	HP:0000978	Bruising susceptibility	0	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia	.	101
HP:0000978	HP:0000978	Bruising susceptibility	0	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia	HP:0040282 - Frequent	101
HP:0000978	HP:0000978	Bruising susceptibility	0	GP1BA CL E G H	2811	4439	ORPHA:274	Bernard-Soulier syndrome	HP:0040283 - Occasional	23
HP:0000978	HP:0000978	Bruising susceptibility	0	GP1BA CL E G H	2811	4439	OMIM:153670	Bernard-Soulier syndrome, type A2, autosomal dominant	.	23
HP:0000978	HP:0000978	Bruising susceptibility	0	GP1BB CL E G H	2812	4440	ORPHA:274	Bernard-Soulier syndrome	HP:0040283 - Occasional	8
HP:0000978	HP:0000978	Bruising susceptibility	0	GP6 CL E G H	51206	14388	OMIM:614201	Bleeding disorder, platelet-type, 11	.	24
HP:0000978	HP:0000978	Bruising susceptibility	0	GP9 CL E G H	2815	4444	ORPHA:274	Bernard-Soulier syndrome	HP:0040283 - Occasional	21
HP:0000978	HP:0000978	Bruising susceptibility	0	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis	HP:0040282 - Frequent	53
HP:0000978	HP:0000978	Bruising susceptibility	0	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040282 - Frequent	200
HP:0000978	HP:0000978	Bruising susceptibility	0	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040282 - Frequent	88
HP:0000978	HP:0000978	Bruising susceptibility	0	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional
HP:0000978	HP:0000978	Bruising susceptibility	0	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1	.	121
HP:0000978	HP:0000978	Bruising susceptibility	0	HPS3 CL E G H	84343	15597	OMIM:614072	Hermansky-Pudlak syndrome 3	.	67
HP:0000978	HP:0000978	Bruising susceptibility	0	HPS4 CL E G H	89781	15844	OMIM:614073	Hermansky-Pudlak syndrome 4	.	123
HP:0000978	HP:0000978	Bruising susceptibility	0	HPS5 CL E G H	11234	17022	OMIM:614074	Hermansky-Pudlak syndrome 5	.	105
HP:0000978	HP:0000978	Bruising susceptibility	0	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6	.	45
HP:0000978	HP:0000978	Bruising susceptibility	0	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome	HP:0040283 - Occasional
HP:0000978	HP:0000978	Bruising susceptibility	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0000978	HP:0000978	Bruising susceptibility	0	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	4
HP:0000978	HP:0000978	Bruising susceptibility	0	ITGA2B CL E G H	3674	6138	ORPHA:849	Glanzmann thrombasthenia	HP:0040282 - Frequent	69
HP:0000978	HP:0000978	Bruising susceptibility	0	ITGA2B CL E G H	3674	6138	OMIM:273800	Glanzmann thrombasthenia	.	69
HP:0000978	HP:0000978	Bruising susceptibility	0	ITGB3 CL E G H	3690	6156	ORPHA:849	Glanzmann thrombasthenia	HP:0040282 - Frequent	80
HP:0000978	HP:0000978	Bruising susceptibility	0	ITGB3 CL E G H	3690	6156	OMIM:619267	GLANZMANN THROMBASTHENIA 2; GT2		80
HP:0000978	HP:0000978	Bruising susceptibility	0	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera	HP:0040281 - Very frequent	57
HP:0000978	HP:0000978	Bruising susceptibility	0	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3		196
HP:0000978	HP:0000978	Bruising susceptibility	0	LMAN1 CL E G H	3998	6631	ORPHA:35909	Combined deficiency of factor V and factor VIII	HP:0040282 - Frequent	56
HP:0000978	HP:0000978	Bruising susceptibility	0	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	6
HP:0000978	HP:0000978	Bruising susceptibility	0	LYST CL E G H	1130	1968	ORPHA:352723	Attenuated Chédiak-Higashi syndrome	HP:0040281 - Very frequent	239
HP:0000978	HP:0000978	Bruising susceptibility	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040282 - Frequent	239
HP:0000978	HP:0000978	Bruising susceptibility	0	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome		239
HP:0000978	HP:0000978	Bruising susceptibility	0	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1		134
HP:0000978	HP:0000978	Bruising susceptibility	0	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0000978	HP:0000978	Bruising susceptibility	0	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	13
HP:0000978	HP:0000978	Bruising susceptibility	0	MCFD2 CL E G H	90411	18451	ORPHA:35909	Combined deficiency of factor V and factor VIII	HP:0040282 - Frequent	77
HP:0000978	HP:0000978	Bruising susceptibility	0	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	11
HP:0000978	HP:0000978	Bruising susceptibility	0	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera	HP:0040281 - Very frequent	97
HP:0000978	HP:0000978	Bruising susceptibility	0	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma	HP:0040283 - Occasional	85
HP:0000978	HP:0000978	Bruising susceptibility	0	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	418
HP:0000978	HP:0000978	Bruising susceptibility	0	MYH9 CL E G H	4627	7579	OMIM:155100	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	.	297
HP:0000978	HP:0000978	Bruising susceptibility	0	MYH9 CL E G H	4627	7579	ORPHA:182050	MYH9-related disease	HP:0040282 - Frequent	297
HP:0000978	HP:0000978	Bruising susceptibility	0	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	326
HP:0000978	HP:0000978	Bruising susceptibility	0	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0000978	HP:0000978	Bruising susceptibility	0	NBEAL2 CL E G H	23218	31928	OMIM:139090	Gray platelet syndrome	.	127
HP:0000978	HP:0000978	Bruising susceptibility	0	NBEAL2 CL E G H	23218	31928	ORPHA:721	Gray platelet syndrome	HP:0040281 - Very frequent	127
HP:0000978	HP:0000978	Bruising susceptibility	0	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome	HP:0040282 - Frequent	40
HP:0000978	HP:0000978	Bruising susceptibility	0	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	12
HP:0000978	HP:0000978	Bruising susceptibility	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease	HP:0040282 - Frequent	79
HP:0000978	HP:0000978	Bruising susceptibility	0	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4	HP:0040283 - Occasional	97
HP:0000978	HP:0000978	Bruising susceptibility	0	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0000978	HP:0000978	Bruising susceptibility	0	P2RY12 CL E G H	64805	18124	OMIM:609821	Bleeding disorder, platelet-type, 8		5
HP:0000978	HP:0000978	Bruising susceptibility	0	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0000978	HP:0000978	Bruising susceptibility	0	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2	.	13
HP:0000978	HP:0000978	Bruising susceptibility	0	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease		13
HP:0000978	HP:0000978	Bruising susceptibility	0	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease		75
HP:0000978	HP:0000978	Bruising susceptibility	0	PLAU CL E G H	5328	9052	OMIM:601709	Quebec platelet disorder	.	50
HP:0000978	HP:0000978	Bruising susceptibility	0	PLEC CL E G H	5339	9069	OMIM:131950	Epidermolysis bullosa simplex, Ogna type	.	759
HP:0000978	HP:0000978	Bruising susceptibility	0	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1		105
HP:0000978	HP:0000978	Bruising susceptibility	0	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040281 - Very frequent	105
HP:0000978	HP:0000978	Bruising susceptibility	0	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness	.	5
HP:0000978	HP:0000978	Bruising susceptibility	0	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	3
HP:0000978	HP:0000978	Bruising susceptibility	0	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome	HP:0040282 - Frequent	58
HP:0000978	HP:0000978	Bruising susceptibility	0	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040283 - Occasional	58
HP:0000978	HP:0000978	Bruising susceptibility	0	PRKACA CL E G H	5566	9380	OMIM:615830	Pigmented nodular adrenocortical disease, primary, 4	.	2
HP:0000978	HP:0000978	Bruising susceptibility	0	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease		2
HP:0000978	HP:0000978	Bruising susceptibility	0	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	134
HP:0000978	HP:0000978	Bruising susceptibility	0	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0000978	HP:0000978	Bruising susceptibility	0	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1	.	134
HP:0000978	HP:0000978	Bruising susceptibility	0	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease		134
HP:0000978	HP:0000978	Bruising susceptibility	0	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	10
HP:0000978	HP:0000978	Bruising susceptibility	0	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	41
HP:0000978	HP:0000978	Bruising susceptibility	0	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1		291
HP:0000978	HP:0000978	Bruising susceptibility	0	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB		53
HP:0000978	HP:0000978	Bruising susceptibility	0	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	2
HP:0000978	HP:0000978	Bruising susceptibility	0	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent
HP:0000978	HP:0000978	Bruising susceptibility	0	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome	.	43
HP:0000978	HP:0000978	Bruising susceptibility	0	RIN2 CL E G H	54453	18750	ORPHA:217335	RIN2 syndrome	HP:0040282 - Frequent	43
HP:0000978	HP:0000978	Bruising susceptibility	0	RUNX1 CL E G H	861	10471	OMIM:601399	Platelet disorder, familial, with associated myeloid malignancy	.	181
HP:0000978	HP:0000978	Bruising susceptibility	0	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1	HP:0040282 - Frequent	77
HP:0000978	HP:0000978	Bruising susceptibility	0	SERPINF2 CL E G H	5345	9075	ORPHA:79	Congenital alpha2-antiplasmin deficiency	HP:0040283 - Occasional	8
HP:0000978	HP:0000978	Bruising susceptibility	0	SERPINF2 CL E G H	5345	9075	OMIM:262850	Plasmin inhibitor deficiency	.	8
HP:0000978	HP:0000978	Bruising susceptibility	0	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type	.
HP:0000978	HP:0000978	Bruising susceptibility	0	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome	.	178
HP:0000978	HP:0000978	Bruising susceptibility	0	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040283 - Occasional	110
HP:0000978	HP:0000978	Bruising susceptibility	0	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3	.	24
HP:0000978	HP:0000978	Bruising susceptibility	0	SLC39A13 CL E G H	91252	20859	ORPHA:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040281 - Very frequent	24
HP:0000978	HP:0000978	Bruising susceptibility	0	SLC51A CL E G H	200931	29955	OMIM:619484	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6; PFIC6
HP:0000978	HP:0000978	Bruising susceptibility	0	SLFN14 CL E G H	342618	32689	OMIM:616913	Bleeding disorder, platelet-type, 20	.	6
HP:0000978	HP:0000978	Bruising susceptibility	0	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	7
HP:0000978	HP:0000978	Bruising susceptibility	0	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome	HP:0040282 - Frequent	260
HP:0000978	HP:0000978	Bruising susceptibility	0	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	260
HP:0000978	HP:0000978	Bruising susceptibility	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0000978	HP:0000978	Bruising susceptibility	0	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	504
HP:0000978	HP:0000978	Bruising susceptibility	0	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040283 - Occasional	2
HP:0000978	HP:0000978	Bruising susceptibility	0	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4		315
HP:0000978	HP:0000978	Bruising susceptibility	0	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0000978	HP:0000978	Bruising susceptibility	0	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	110
HP:0000978	HP:0000978	Bruising susceptibility	0	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	12
HP:0000978	HP:0000978	Bruising susceptibility	0	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040283 - Occasional	85
HP:0000978	HP:0000978	Bruising susceptibility	0	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040283 - Occasional	70
HP:0000978	HP:0000978	Bruising susceptibility	0	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	22
HP:0000978	HP:0000978	Bruising susceptibility	0	TBXA2R CL E G H	6915	11608	OMIM:614009	BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO; BDPLT13		10
HP:0000978	HP:0000978	Bruising susceptibility	0	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040283 - Occasional	82
HP:0000978	HP:0000978	Bruising susceptibility	0	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera	HP:0040281 - Very frequent	3
HP:0000978	HP:0000978	Bruising susceptibility	0	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	162
HP:0000978	HP:0000978	Bruising susceptibility	0	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4		162
HP:0000978	HP:0000978	Bruising susceptibility	0	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	85
HP:0000978	HP:0000978	Bruising susceptibility	0	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0000978	HP:0000978	Bruising susceptibility	0	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	239
HP:0000978	HP:0000978	Bruising susceptibility	0	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome	HP:0040283 - Occasional	239
HP:0000978	HP:0000978	Bruising susceptibility	0	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	253
HP:0000978	HP:0000978	Bruising susceptibility	0	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome	HP:0040283 - Occasional	253
HP:0000978	HP:0000978	Bruising susceptibility	0	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome	HP:0040283 - Occasional	131
HP:0000978	HP:0000978	Bruising susceptibility	0	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040283 - Occasional	44
HP:0000978	HP:0000978	Bruising susceptibility	0	TNXB CL E G H	7148	11976	ORPHA:230839	Classical-like Ehlers-Danlos syndrome type 1	HP:0040282 - Frequent	134
HP:0000978	HP:0000978	Bruising susceptibility	0	TNXB CL E G H	7148	11976	OMIM:606408	Ehlers-Danlos syndrome, classic-like	.	134
HP:0000978	HP:0000978	Bruising susceptibility	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease	HP:0040282 - Frequent	911
HP:0000978	HP:0000978	Bruising susceptibility	0	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040283 - Occasional	116
HP:0000978	HP:0000978	Bruising susceptibility	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease	HP:0040282 - Frequent	1
HP:0000978	HP:0000978	Bruising susceptibility	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease	HP:0040282 - Frequent	7
HP:0000978	HP:0000978	Bruising susceptibility	0	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.	7
HP:0000978	HP:0000978	Bruising susceptibility	0	VWF CL E G H	7450	12726	OMIM:193400	Von willebrand disease, type 1		533
HP:0000978	HP:0000978	Bruising susceptibility	0	VWF CL E G H	7450	12726	OMIM:613554	Von willebrand disease, type 2	.	533
HP:0000978	HP:0000978	Bruising susceptibility	0	VWF CL E G H	7450	12726	OMIM:277480	Von willebrand disease, type 3	.	533
HP:0000978	HP:0000978	Bruising susceptibility	0	WAS CL E G H	7454	12731	OMIM:313900	Thrombocytopenia 1	.	65
HP:0000978	HP:0000978	Bruising susceptibility	0	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040281 - Very frequent	65
HP:0000978	HP:0000978	Bruising susceptibility	0	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040281 - Very frequent	6
HP:0000978	HP:0000978	Bruising susceptibility	0	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	1
HP:0000978	HP:0000978	Bruising susceptibility	0	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome	HP:0040282 - Frequent	397

Genes (158) :ABCC6 ACTA2 ADAMTS2 AEBP1 AIP ANKRD26 ARMC5 ATP7A ATP7B ATRX B3GALT6 BCOR BLOC1S3 BLOC1S5 BRAF C1R C1S CASP10 CDH23 CHST14 CLCN7 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 CREB3L1 DSE DTNBP1 ELN EMILIN1 ENPP1 ETV6 F10 F13A1 F13B F2 F5 F7 F8 FANCA FANCC FANCD2 FANCE FAS FASLG FBN1 FCGR2C FGA FGB FGG FIP1L1 FKBP14 FLNA FOXE3 GATA1 GATA2 GBA1 GFI1B GGCX GNAS GP1BA GP1BB GP6 GP9 GSN HBA1 HBA2 HEY2 HPS1 HPS3 HPS4 HPS5 HPS6 IPO8 IRF2BP2 ITGA2B ITGB3 JAK2 KRAS LMAN1 LOX LYST MAP2K1 MAPK1 MAT2A MCFD2 MFAP5 MPL MTAP MYH11 MYH9 MYLK NABP1 NBEAL2 NFIX NPM1 NR3C1 NTRK1 NUMA1 P2RY12 PDE11A PDE8B PLAU PLEC PLOD1 PLOD3 PML PRDM5 PRF1 PRKACA PRKAR1A PRKCD PRKG1 PTPN11 PYCR1 RARA RASGRP1 RIN2 RUNX1 SCARB2 SERPINF2 SIK3 SLC2A10 SLC37A4 SLC39A13 SLC51A SLFN14 SMAD2 SMAD3 SMAD4 SNX10 SOS1 SPRED2 STAT3 STAT5B STX11 STXBP2 TBL1XR1 TBXA2R TCIRG1 TET2 TGFB2 TGFB3 TGFBR1 TGFBR2 TNFRSF1A TNFSF11 TNXB TP53 UNC13D USP48 USP8 VWF WAS WIPF1 ZBTB16 ZNF469

Diseases (139) :ORPHA:758 ORPHA:91387 OMIM:225410 ORPHA:536532 OMIM:618000 OMIM:219090 OMIM:188000 ORPHA:189427 OMIM:304150 ORPHA:198 ORPHA:905 ORPHA:231401 ORPHA:96253 ORPHA:536467 ORPHA:520 OMIM:614077 OMIM:619172 OMIM:163950 OMIM:130080 OMIM:617174 ORPHA:3261 OMIM:601776 ORPHA:2953 ORPHA:667 ORPHA:287 OMIM:619115 OMIM:130060 OMIM:166200 ORPHA:230851 OMIM:619120 OMIM:617821 OMIM:225320 OMIM:130050 OMIM:618343 ORPHA:286 OMIM:130000 OMIM:130010 OMIM:616229 OMIM:614076 OMIM:620080 OMIM:616216 ORPHA:328 ORPHA:331 OMIM:613225 OMIM:613235 OMIM:613679 ORPHA:326 OMIM:227400 ORPHA:327 ORPHA:177926 OMIM:306700 ORPHA:169802 OMIM:227650 OMIM:227645 OMIM:227646 OMIM:600901 OMIM:616914 ORPHA:3002 OMIM:202400 OMIM:614557 ORPHA:300179 ORPHA:75497 OMIM:314050 OMIM:300367 ORPHA:3226 ORPHA:77259 OMIM:187900 OMIM:277450 OMIM:219080 ORPHA:274 OMIM:153670 OMIM:614201 ORPHA:85448 ORPHA:98791 OMIM:203300 OMIM:614072 OMIM:614073 OMIM:614074 OMIM:614075 ORPHA:60030 OMIM:619472 ORPHA:849 OMIM:273800 OMIM:619267 ORPHA:729 OMIM:609942 ORPHA:35909 ORPHA:352723 ORPHA:167 OMIM:214500 OMIM:619087 OMIM:112250 OMIM:155100 ORPHA:182050 OMIM:139090 ORPHA:721 ORPHA:561 ORPHA:642 OMIM:609821 ORPHA:1359 OMIM:610475 ORPHA:189439 OMIM:601709 OMIM:131950 OMIM:225400 ORPHA:1900 OMIM:612394 ORPHA:90354 ORPHA:540 OMIM:615830 OMIM:610489 OMIM:612940 OMIM:613075 ORPHA:217335 OMIM:601399 ORPHA:79 OMIM:262850 OMIM:618162 OMIM:208050 ORPHA:79259 OMIM:612350 ORPHA:157965 OMIM:619484 OMIM:616913 ORPHA:284984 OMIM:613795 OMIM:610733 OMIM:619745 OMIM:614009 OMIM:614816 OMIM:615582 ORPHA:32960 ORPHA:230839 OMIM:606408 OMIM:193400 OMIM:613554 OMIM:277480 OMIM:313900 ORPHA:906

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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