Human Phenotype Ontology

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:0011276	HP:0011276	Vascular skin abnormality	0	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum		415
HP:0011276	HP:0011276	Vascular skin abnormality	0	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS		254
HP:0011276	HP:0011276	Vascular skin abnormality	0	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome		51
HP:0011276	HP:0011276	Vascular skin abnormality	0	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0011276	HP:0011276	Vascular skin abnormality	0	ACTA2 CL E G H	59	130	OMIM:611788	AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6		94
HP:0011276	HP:0011276	Vascular skin abnormality	0	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		94
HP:0011276	HP:0011276	Vascular skin abnormality	0	ACTA2 CL E G H	59	130	ORPHA:2573	Moyamoya disease		94
HP:0011276	HP:0011276	Vascular skin abnormality	0	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia		178
HP:0011276	HP:0011276	Vascular skin abnormality	0	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2		178
HP:0011276	HP:0011276	Vascular skin abnormality	0	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome		22
HP:0011276	HP:0011276	Vascular skin abnormality	0	ADA2 CL E G H	51816	1839	ORPHA:820	Sneddon syndrome	HP:0040281 - Very frequent	22
HP:0011276	HP:0011276	Vascular skin abnormality	0	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0011276	HP:0011276	Vascular skin abnormality	0	ADAM17 CL E G H	6868	195	OMIM:614328	INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1		2
HP:0011276	HP:0011276	Vascular skin abnormality	0	ADAM17 CL E G H	6868	195	ORPHA:294023	Neonatal inflammatory skin and bowel disease		2
HP:0011276	HP:0011276	Vascular skin abnormality	0	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive		165
HP:0011276	HP:0011276	Vascular skin abnormality	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome		116
HP:0011276	HP:0011276	Vascular skin abnormality	0	ADGRE2 CL E G H	30817	3337	OMIM:125630	Dermodistortive urticaria		2
HP:0011276	HP:0011276	Vascular skin abnormality	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0011276	HP:0011276	Vascular skin abnormality	0	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0011276	HP:0011276	Vascular skin abnormality	0	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA		76
HP:0011276	HP:0011276	Vascular skin abnormality	0	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria	HP:0040283 - Occasional	76
HP:0011276	HP:0011276	Vascular skin abnormality	0	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy		85
HP:0011276	HP:0011276	Vascular skin abnormality	0	AGXT CL E G H	189	341	OMIM:259900	Hyperoxaluria, primary, type I		260
HP:0011276	HP:0011276	Vascular skin abnormality	0	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic		95
HP:0011276	HP:0011276	Vascular skin abnormality	0	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome		54
HP:0011276	HP:0011276	Vascular skin abnormality	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent	54
HP:0011276	HP:0011276	Vascular skin abnormality	0	AKT3 CL E G H	10000	393	OMIM:615937	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2		19
HP:0011276	HP:0011276	Vascular skin abnormality	0	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA		89
HP:0011276	HP:0011276	Vascular skin abnormality	0	ALDH3A2 CL E G H	224	403	ORPHA:816	Sjögren-Larsson syndrome		87
HP:0011276	HP:0011276	Vascular skin abnormality	0	ALOX12B CL E G H	242	430	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2		75
HP:0011276	HP:0011276	Vascular skin abnormality	0	ALOXE3 CL E G H	59344	13743	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2		63
HP:0011276	HP:0011276	Vascular skin abnormality	0	ALOXE3 CL E G H	59344	13743	OMIM:606545	Ichthyosis, congenital, autosomal recessive 3		63
HP:0011276	HP:0011276	Vascular skin abnormality	0	ALPK1 CL E G H	80216	20917	OMIM:614979	Splenomegaly, cytopenia, and vision loss
HP:0011276	HP:0011276	Vascular skin abnormality	0	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1		2
HP:0011276	HP:0011276	Vascular skin abnormality	0	ANGPT1 CL E G H	284	484	OMIM:619361	ANGIOEDEMA, HEREDITARY, 5; HAE5		5
HP:0011276	HP:0011276	Vascular skin abnormality	0	ANKRD26 CL E G H	22852	29186	OMIM:188000	THROMBOCYTOPENIA 2; THC2		106
HP:0011276	HP:0011276	Vascular skin abnormality	0	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome		8
HP:0011276	HP:0011276	Vascular skin abnormality	0	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis		49
HP:0011276	HP:0011276	Vascular skin abnormality	0	AP1S1 CL E G H	1174	559	OMIM:609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma		1
HP:0011276	HP:0011276	Vascular skin abnormality	0	APOE CL E G H	348	613	ORPHA:158029	Sea-blue histiocytosis		39
HP:0011276	HP:0011276	Vascular skin abnormality	0	AQP5 CL E G H	362	638	ORPHA:2337	Non-epidermolytic palmoplantar keratoderma		5
HP:0011276	HP:0011276	Vascular skin abnormality	0	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome		147
HP:0011276	HP:0011276	Vascular skin abnormality	0	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1		147
HP:0011276	HP:0011276	Vascular skin abnormality	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0011276	HP:0011276	Vascular skin abnormality	0	ARL6IP6 CL E G H	151188	24048	ORPHA:1556	Cutis marmorata telangiectatica congenita		1
HP:0011276	HP:0011276	Vascular skin abnormality	0	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		7
HP:0011276	HP:0011276	Vascular skin abnormality	0	ARPC1B CL E G H	10095	704	OMIM:617718	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
HP:0011276	HP:0011276	Vascular skin abnormality	0	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0011276	HP:0011276	Vascular skin abnormality	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome		1
HP:0011276	HP:0011276	Vascular skin abnormality	0	ARX CL E G H	170302	18060	ORPHA:94083	Partington syndrome		166
HP:0011276	HP:0011276	Vascular skin abnormality	0	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis		145
HP:0011276	HP:0011276	Vascular skin abnormality	0	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		145
HP:0011276	HP:0011276	Vascular skin abnormality	0	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia		3267
HP:0011276	HP:0011276	Vascular skin abnormality	0	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0011276	HP:0011276	Vascular skin abnormality	0	ATP2C1 CL E G H	27032	13211	OMIM:169600	Benign chronic pemphigus		56
HP:0011276	HP:0011276	Vascular skin abnormality	0	ATP2C1 CL E G H	27032	13211	ORPHA:2841	Familial benign chronic pemphigus		56
HP:0011276	HP:0011276	Vascular skin abnormality	0	ATP6 CL E G H	4508	7414	ORPHA:104	Leber hereditary optic neuropathy
HP:0011276	HP:0011276	Vascular skin abnormality	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		140
HP:0011276	HP:0011276	Vascular skin abnormality	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome		140
HP:0011276	HP:0011276	Vascular skin abnormality	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		3
HP:0011276	HP:0011276	Vascular skin abnormality	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		2
HP:0011276	HP:0011276	Vascular skin abnormality	0	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease		192
HP:0011276	HP:0011276	Vascular skin abnormality	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome		192
HP:0011276	HP:0011276	Vascular skin abnormality	0	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome		192
HP:0011276	HP:0011276	Vascular skin abnormality	0	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease		315
HP:0011276	HP:0011276	Vascular skin abnormality	0	ATR CL E G H	545	882	OMIM:614564	Cutaneous telangiectasia and cancer syndrome, familial		168
HP:0011276	HP:0011276	Vascular skin abnormality	0	ATRX CL E G H	546	886	ORPHA:231401	Alpha-thalassemia-myelodysplastic syndrome		169
HP:0011276	HP:0011276	Vascular skin abnormality	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0011276	HP:0011276	Vascular skin abnormality	0	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach		169
HP:0011276	HP:0011276	Vascular skin abnormality	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome		38
HP:0011276	HP:0011276	Vascular skin abnormality	0	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome		22
HP:0011276	HP:0011276	Vascular skin abnormality	0	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia		101
HP:0011276	HP:0011276	Vascular skin abnormality	0	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome		314
HP:0011276	HP:0011276	Vascular skin abnormality	0	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome		314
HP:0011276	HP:0011276	Vascular skin abnormality	0	BLOC1S3 CL E G H	388552	20914	OMIM:614077	Hermansky-Pudlak syndrome 8		42
HP:0011276	HP:0011276	Vascular skin abnormality	0	BLOC1S5 CL E G H	63915	18561	OMIM:619172	HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0011276	HP:0011276	Vascular skin abnormality	0	BMP2 CL E G H	650	1069	OMIM:235200	Hemochromatosis, type 1		13
HP:0011276	HP:0011276	Vascular skin abnormality	0	BMPR2 CL E G H	659	1078	OMIM:178600	Pulmonary hypertension, primary, 1		525
HP:0011276	HP:0011276	Vascular skin abnormality	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0011276	HP:0011276	Vascular skin abnormality	0	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1		276
HP:0011276	HP:0011276	Vascular skin abnormality	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0011276	HP:0011276	Vascular skin abnormality	0	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy		105
HP:0011276	HP:0011276	Vascular skin abnormality	0	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1		15
HP:0011276	HP:0011276	Vascular skin abnormality	0	C1S CL E G H	716	1247	OMIM:617174	Ehlers-Danlos syndrome, periodontal type, 2		7
HP:0011276	HP:0011276	Vascular skin abnormality	0	C2 CL E G H	717	1248	OMIM:217000	Complement component 2 deficiency		23
HP:0011276	HP:0011276	Vascular skin abnormality	0	C4A CL E G H	720	1323	OMIM:614380	Complement component 4A deficiency		1
HP:0011276	HP:0011276	Vascular skin abnormality	0	CALR CL E G H	811	1455	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included		1
HP:0011276	HP:0011276	Vascular skin abnormality	0	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis		1
HP:0011276	HP:0011276	Vascular skin abnormality	0	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0011276	HP:0011276	Vascular skin abnormality	0	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0011276	HP:0011276	Vascular skin abnormality	0	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0011276	HP:0011276	Vascular skin abnormality	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome		3
HP:0011276	HP:0011276	Vascular skin abnormality	0	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy		11
HP:0011276	HP:0011276	Vascular skin abnormality	0	CAV1 CL E G H	857	1527	ORPHA:220393	Diffuse cutaneous systemic sclerosis		11
HP:0011276	HP:0011276	Vascular skin abnormality	0	CAV1 CL E G H	857	1527	ORPHA:220402	Limited cutaneous systemic sclerosis		11
HP:0011276	HP:0011276	Vascular skin abnormality	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0011276	HP:0011276	Vascular skin abnormality	0	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy		48
HP:0011276	HP:0011276	Vascular skin abnormality	0	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis		317
HP:0011276	HP:0011276	Vascular skin abnormality	0	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria		242
HP:0011276	HP:0011276	Vascular skin abnormality	0	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency		242
HP:0011276	HP:0011276	Vascular skin abnormality	0	CCM2 CL E G H	83605	21708	OMIM:603284	Cerebral cavernous malformations-2		37
HP:0011276	HP:0011276	Vascular skin abnormality	0	CCM2 CL E G H	83605	21708	ORPHA:221061	Familial cerebral cavernous malformation	HP:0040283 - Occasional	37
HP:0011276	HP:0011276	Vascular skin abnormality	0	CCN2 CL E G H	1490	2500	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0011276	HP:0011276	Vascular skin abnormality	0	CCN2 CL E G H	1490	2500	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0011276	HP:0011276	Vascular skin abnormality	0	CCR6 CL E G H	1235	1607	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0011276	HP:0011276	Vascular skin abnormality	0	CCR6 CL E G H	1235	1607	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0011276	HP:0011276	Vascular skin abnormality	0	CD109 CL E G H	135228	21685	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia
HP:0011276	HP:0011276	Vascular skin abnormality	0	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency		38
HP:0011276	HP:0011276	Vascular skin abnormality	0	CD28 CL E G H	940	1653	ORPHA:2584	Classic mycosis fungoides
HP:0011276	HP:0011276	Vascular skin abnormality	0	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency		1
HP:0011276	HP:0011276	Vascular skin abnormality	0	CD81 CL E G H	975	1701	OMIM:613496	Immunodeficiency, common variable, 6		1
HP:0011276	HP:0011276	Vascular skin abnormality	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0011276	HP:0011276	Vascular skin abnormality	0	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4		102
HP:0011276	HP:0011276	Vascular skin abnormality	0	CFH CL E G H	3075	4883	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1		86
HP:0011276	HP:0011276	Vascular skin abnormality	0	CFHR1 CL E G H	3078	4888	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0011276	HP:0011276	Vascular skin abnormality	0	CFHR3 CL E G H	10878	16980	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0011276	HP:0011276	Vascular skin abnormality	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1		27
HP:0011276	HP:0011276	Vascular skin abnormality	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		27
HP:0011276	HP:0011276	Vascular skin abnormality	0	CIB1 CL E G H	10519	16920	ORPHA:302	Epidermodysplasia verruciformis
HP:0011276	HP:0011276	Vascular skin abnormality	0	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis		102
HP:0011276	HP:0011276	Vascular skin abnormality	0	CLCN7 CL E G H	1186	2025	OMIM:611490	Osteopetrosis, autosomal recessive 4		102
HP:0011276	HP:0011276	Vascular skin abnormality	0	CLEC7A CL E G H	64581	14558	ORPHA:1334	Chronic mucocutaneous candidiasis		3
HP:0011276	HP:0011276	Vascular skin abnormality	0	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome		67
HP:0011276	HP:0011276	Vascular skin abnormality	0	COG8 CL E G H	84342	18623	ORPHA:95428	COG8-CDG		39
HP:0011276	HP:0011276	Vascular skin abnormality	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome		373
HP:0011276	HP:0011276	Vascular skin abnormality	0	COL1A1 CL E G H	1277	2197	OMIM:619115	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1		373
HP:0011276	HP:0011276	Vascular skin abnormality	0	COL1A1 CL E G H	1277	2197	ORPHA:31112	Dermatofibrosarcoma protuberans		373
HP:0011276	HP:0011276	Vascular skin abnormality	0	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1		373
HP:0011276	HP:0011276	Vascular skin abnormality	0	COL1A1 CL E G H	1277	2197	OMIM:166200	Osteogenesis imperfecta, type I		373
HP:0011276	HP:0011276	Vascular skin abnormality	0	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome		243
HP:0011276	HP:0011276	Vascular skin abnormality	0	COL1A2 CL E G H	1278	2198	OMIM:619120	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2; OIEDS2		243
HP:0011276	HP:0011276	Vascular skin abnormality	0	COL1A2 CL E G H	1278	2198	OMIM:617821	Ehlers-Danlos syndrome, arthrochalasia type, 2		243
HP:0011276	HP:0011276	Vascular skin abnormality	0	COL1A2 CL E G H	1278	2198	OMIM:225320	Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form		243
HP:0011276	HP:0011276	Vascular skin abnormality	0	COL3A1 CL E G H	1281	2201	ORPHA:2500	Acrogeria		749
HP:0011276	HP:0011276	Vascular skin abnormality	0	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0011276	HP:0011276	Vascular skin abnormality	0	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome		749
HP:0011276	HP:0011276	Vascular skin abnormality	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome		749
HP:0011276	HP:0011276	Vascular skin abnormality	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome		660
HP:0011276	HP:0011276	Vascular skin abnormality	0	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I		660
HP:0011276	HP:0011276	Vascular skin abnormality	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome		325
HP:0011276	HP:0011276	Vascular skin abnormality	0	COL5A2 CL E G H	1290	2210	OMIM:130010	Ehlers-Danlos syndrome, classic type, 2		325
HP:0011276	HP:0011276	Vascular skin abnormality	0	COL7A1 CL E G H	1294	2214	ORPHA:158673	Localized dystrophic epidermolysis bullosa, acral form		263
HP:0011276	HP:0011276	Vascular skin abnormality	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome		6
HP:0011276	HP:0011276	Vascular skin abnormality	0	COX1 CL E G H	4512	7419	ORPHA:104	Leber hereditary optic neuropathy
HP:0011276	HP:0011276	Vascular skin abnormality	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0011276	HP:0011276	Vascular skin abnormality	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0011276	HP:0011276	Vascular skin abnormality	0	COX3 CL E G H	4514	7422	ORPHA:104	Leber hereditary optic neuropathy
HP:0011276	HP:0011276	Vascular skin abnormality	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0011276	HP:0011276	Vascular skin abnormality	0	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome		6
HP:0011276	HP:0011276	Vascular skin abnormality	0	CPN1 CL E G H	1369	2312	OMIM:212070	Carboxypeptidase N deficiency		2
HP:0011276	HP:0011276	Vascular skin abnormality	0	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency		10
HP:0011276	HP:0011276	Vascular skin abnormality	0	CREB3L1 CL E G H	90993	18856	OMIM:616229	Osteogenesis imperfecta, type XVI		4
HP:0011276	HP:0011276	Vascular skin abnormality	0	CSTA CL E G H	1475	2481	ORPHA:263534	Acral peeling skin syndrome		4
HP:0011276	HP:0011276	Vascular skin abnormality	0	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts		160
HP:0011276	HP:0011276	Vascular skin abnormality	0	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita		160
HP:0011276	HP:0011276	Vascular skin abnormality	0	CTLA4 CL E G H	1493	2505	ORPHA:2584	Classic mycosis fungoides		10
HP:0011276	HP:0011276	Vascular skin abnormality	0	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis		10
HP:0011276	HP:0011276	Vascular skin abnormality	0	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy		88
HP:0011276	HP:0011276	Vascular skin abnormality	0	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis		51
HP:0011276	HP:0011276	Vascular skin abnormality	0	CTSB CL E G H	1508	2527	ORPHA:50943	Keratolytic winter erythema		1
HP:0011276	HP:0011276	Vascular skin abnormality	0	CTSB CL E G H	1508	2527	OMIM:148370	Keratolytic winter erythema		1
HP:0011276	HP:0011276	Vascular skin abnormality	0	CYLD CL E G H	1540	2584	ORPHA:211	Familial cylindromatosis		126
HP:0011276	HP:0011276	Vascular skin abnormality	0	CYLD CL E G H	1540	2584	ORPHA:867	Familial multiple trichoepithelioma		126
HP:0011276	HP:0011276	Vascular skin abnormality	0	CYTB CL E G H	4519	7427	ORPHA:104	Leber hereditary optic neuropathy
HP:0011276	HP:0011276	Vascular skin abnormality	0	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach
HP:0011276	HP:0011276	Vascular skin abnormality	0	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum		30
HP:0011276	HP:0011276	Vascular skin abnormality	0	DDB2 CL E G H	1643	2718	OMIM:278740	Xeroderma pigmentosum, complementation group E		30
HP:0011276	HP:0011276	Vascular skin abnormality	0	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN		45
HP:0011276	HP:0011276	Vascular skin abnormality	0	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome		13
HP:0011276	HP:0011276	Vascular skin abnormality	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome		159
HP:0011276	HP:0011276	Vascular skin abnormality	0	DIAPH1 CL E G H	1729	2876	ORPHA:2573	Moyamoya disease		118
HP:0011276	HP:0011276	Vascular skin abnormality	0	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita		65
HP:0011276	HP:0011276	Vascular skin abnormality	0	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome		9
HP:0011276	HP:0011276	Vascular skin abnormality	0	DLL4 CL E G H	54567	2910	OMIM:616589	Adams-Oliver syndrome 6		9
HP:0011276	HP:0011276	Vascular skin abnormality	0	DNAJC30 CL E G H	84277	16410	ORPHA:104	Leber hereditary optic neuropathy
HP:0011276	HP:0011276	Vascular skin abnormality	0	DNAJC30 CL E G H	84277	16410	OMIM:619382	LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR
HP:0011276	HP:0011276	Vascular skin abnormality	0	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis		3
HP:0011276	HP:0011276	Vascular skin abnormality	0	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome		18
HP:0011276	HP:0011276	Vascular skin abnormality	0	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2		18
HP:0011276	HP:0011276	Vascular skin abnormality	0	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE		27
HP:0011276	HP:0011276	Vascular skin abnormality	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		13
HP:0011276	HP:0011276	Vascular skin abnormality	0	DSG4 CL E G H	147409	21307	OMIM:607903	Hypotrichosis 6		63
HP:0011276	HP:0011276	Vascular skin abnormality	0	DSP CL E G H	1832	3052	OMIM:615821	Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis		747
HP:0011276	HP:0011276	Vascular skin abnormality	0	DSP CL E G H	1832	3052	OMIM:607655	Skin fragility-woolly hair syndrome		747
HP:0011276	HP:0011276	Vascular skin abnormality	0	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI		108
HP:0011276	HP:0011276	Vascular skin abnormality	0	DTNBP1 CL E G H	84062	17328	OMIM:614076	Hermansky-Pudlak syndrome 7		46
HP:0011276	HP:0011276	Vascular skin abnormality	0	EGFR CL E G H	1956	3236	ORPHA:294023	Neonatal inflammatory skin and bowel disease		257
HP:0011276	HP:0011276	Vascular skin abnormality	0	ELMO2 CL E G H	63916	17233	ORPHA:3019	Ramon syndrome		3
HP:0011276	HP:0011276	Vascular skin abnormality	0	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		172
HP:0011276	HP:0011276	Vascular skin abnormality	0	ELOVL4 CL E G H	6785	14415	OMIM:614457	Ichthyosis, spastic quadriplegia, and mental retardation		62
HP:0011276	HP:0011276	Vascular skin abnormality	0	ELOVL4 CL E G H	6785	14415	ORPHA:1955	Spinocerebellar ataxia type 34		62
HP:0011276	HP:0011276	Vascular skin abnormality	0	EMILIN1 CL E G H	11117	19880	OMIM:620080			2
HP:0011276	HP:0011276	Vascular skin abnormality	0	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia		186
HP:0011276	HP:0011276	Vascular skin abnormality	0	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1		186
HP:0011276	HP:0011276	Vascular skin abnormality	0	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum		151
HP:0011276	HP:0011276	Vascular skin abnormality	0	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome		4
HP:0011276	HP:0011276	Vascular skin abnormality	0	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4		4
HP:0011276	HP:0011276	Vascular skin abnormality	0	EPHB2 CL E G H	2048	3393	OMIM:618462	Bleeding disorder, platelet-type, 22		7
HP:0011276	HP:0011276	Vascular skin abnormality	0	EPHB4 CL E G H	2050	3395	ORPHA:137667	Capillary malformation-arteriovenous malformation	HP:0040282 - Frequent	3
HP:0011276	HP:0011276	Vascular skin abnormality	0	EPHB4 CL E G H	2050	3395	OMIM:618196	Capillary malformation-arteriovenous malformation 2		3
HP:0011276	HP:0011276	Vascular skin abnormality	0	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive		106
HP:0011276	HP:0011276	Vascular skin abnormality	0	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum		106
HP:0011276	HP:0011276	Vascular skin abnormality	0	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D		106
HP:0011276	HP:0011276	Vascular skin abnormality	0	ERCC2 CL E G H	2068	3434	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex		106
HP:0011276	HP:0011276	Vascular skin abnormality	0	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum		54
HP:0011276	HP:0011276	Vascular skin abnormality	0	ERCC3 CL E G H	2071	3435	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex		54
HP:0011276	HP:0011276	Vascular skin abnormality	0	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum		158
HP:0011276	HP:0011276	Vascular skin abnormality	0	ERCC4 CL E G H	2072	3436	OMIM:278760	Xeroderma pigmentosum, complementation group F		158
HP:0011276	HP:0011276	Vascular skin abnormality	0	ERCC4 CL E G H	2072	3436	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex		158
HP:0011276	HP:0011276	Vascular skin abnormality	0	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum		83
HP:0011276	HP:0011276	Vascular skin abnormality	0	ERCC5 CL E G H	2073	3437	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex		83
HP:0011276	HP:0011276	Vascular skin abnormality	0	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome		199
HP:0011276	HP:0011276	Vascular skin abnormality	0	ERCC6 CL E G H	2074	3438	OMIM:600630	Uv-Sensitive syndrome 1		199
HP:0011276	HP:0011276	Vascular skin abnormality	0	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic		42
HP:0011276	HP:0011276	Vascular skin abnormality	0	ETHE1 CL E G H	23474	23287	ORPHA:51188	Ethylmalonic encephalopathy		42
HP:0011276	HP:0011276	Vascular skin abnormality	0	ETV6 CL E G H	2120	3495	OMIM:616216	Thrombocytopenia 5		13
HP:0011276	HP:0011276	Vascular skin abnormality	0	F10 CL E G H	2159	3528	ORPHA:328	Congenital factor X deficiency		33
HP:0011276	HP:0011276	Vascular skin abnormality	0	F12 CL E G H	2161	3530	OMIM:610618	ANGIOEDEMA, HEREDITARY, TYPE III; HAE3		28
HP:0011276	HP:0011276	Vascular skin abnormality	0	F13A1 CL E G H	2162	3531	ORPHA:331	Congenital factor XIII deficiency		60
HP:0011276	HP:0011276	Vascular skin abnormality	0	F13A1 CL E G H	2162	3531	OMIM:613225	Factor XIII, A subunit, deficiency of		60
HP:0011276	HP:0011276	Vascular skin abnormality	0	F13B CL E G H	2165	3534	ORPHA:331	Congenital factor XIII deficiency		32
HP:0011276	HP:0011276	Vascular skin abnormality	0	F13B CL E G H	2165	3534	OMIM:613235	Factor XIIIB deficiency		32
HP:0011276	HP:0011276	Vascular skin abnormality	0	F2 CL E G H	2147	3535	OMIM:613679	Congenital prothrombin deficiency		44
HP:0011276	HP:0011276	Vascular skin abnormality	0	F5 CL E G H	2153	3542	ORPHA:326	Congenital factor V deficiency		159
HP:0011276	HP:0011276	Vascular skin abnormality	0	F5 CL E G H	2153	3542	OMIM:227400	Factor V deficiency		159
HP:0011276	HP:0011276	Vascular skin abnormality	0	F7 CL E G H	2155	3544	ORPHA:327	Congenital factor VII deficiency		70
HP:0011276	HP:0011276	Vascular skin abnormality	0	F8 CL E G H	2157	3546	ORPHA:177926	Bleeding disorder in hemophilia A carriers without FVIII deficiency		303
HP:0011276	HP:0011276	Vascular skin abnormality	0	F8 CL E G H	2157	3546	OMIM:306700	Hemophilia A		303
HP:0011276	HP:0011276	Vascular skin abnormality	0	F8 CL E G H	2157	3546	ORPHA:169805	Moderate hemophilia A		303
HP:0011276	HP:0011276	Vascular skin abnormality	0	F8 CL E G H	2157	3546	ORPHA:169802	Severe hemophilia A		303
HP:0011276	HP:0011276	Vascular skin abnormality	0	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia		340
HP:0011276	HP:0011276	Vascular skin abnormality	0	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C		410
HP:0011276	HP:0011276	Vascular skin abnormality	0	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0011276	HP:0011276	Vascular skin abnormality	0	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E		73
HP:0011276	HP:0011276	Vascular skin abnormality	0	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0011276	HP:0011276	Vascular skin abnormality	0	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome		59
HP:0011276	HP:0011276	Vascular skin abnormality	0	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome		37
HP:0011276	HP:0011276	Vascular skin abnormality	0	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0011276	HP:0011276	Vascular skin abnormality	0	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		1361
HP:0011276	HP:0011276	Vascular skin abnormality	0	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0011276	HP:0011276	Vascular skin abnormality	0	FCGR2C CL E G H	9103	15626	ORPHA:3002	Immune thrombocytopenia
HP:0011276	HP:0011276	Vascular skin abnormality	0	FECH CL E G H	2235	3647	ORPHA:79278	Autosomal erythropoietic protoporphyria		145
HP:0011276	HP:0011276	Vascular skin abnormality	0	FECH CL E G H	2235	3647	OMIM:177000	Protoporphyria, erythropoietic, 1		145
HP:0011276	HP:0011276	Vascular skin abnormality	0	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa		136
HP:0011276	HP:0011276	Vascular skin abnormality	0	FERMT1 CL E G H	55612	15889	OMIM:173650	Kindler syndrome		136
HP:0011276	HP:0011276	Vascular skin abnormality	0	FERMT3 CL E G H	83706	23151	OMIM:612840	Leukocyte adhesion deficiency, type III		23
HP:0011276	HP:0011276	Vascular skin abnormality	0	FGA CL E G H	2243	3661	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		47
HP:0011276	HP:0011276	Vascular skin abnormality	0	FGB CL E G H	2244	3662	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		62
HP:0011276	HP:0011276	Vascular skin abnormality	0	FGG CL E G H	2266	3694	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		34
HP:0011276	HP:0011276	Vascular skin abnormality	0	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia		4
HP:0011276	HP:0011276	Vascular skin abnormality	0	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2		13
HP:0011276	HP:0011276	Vascular skin abnormality	0	FKBP14 CL E G H	55033	18625	ORPHA:300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency		13
HP:0011276	HP:0011276	Vascular skin abnormality	0	FLNA CL E G H	2316	3754	ORPHA:75497	X-linked Ehlers-Danlos syndrome		493
HP:0011276	HP:0011276	Vascular skin abnormality	0	FLT4 CL E G H	2324	3767	OMIM:153100	Lymphatic malformation 1		90
HP:0011276	HP:0011276	Vascular skin abnormality	0	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy
HP:0011276	HP:0011276	Vascular skin abnormality	0	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		23
HP:0011276	HP:0011276	Vascular skin abnormality	0	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome		32
HP:0011276	HP:0011276	Vascular skin abnormality	0	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1		1
HP:0011276	HP:0011276	Vascular skin abnormality	0	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath		70
HP:0011276	HP:0011276	Vascular skin abnormality	0	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS		43
HP:0011276	HP:0011276	Vascular skin abnormality	0	FUCA1 CL E G H	2517	4006	ORPHA:349	Fucosidosis	HP:0040282 - Frequent	43
HP:0011276	HP:0011276	Vascular skin abnormality	0	FYB1 CL E G H	2533	4036	OMIM:273900	THROMBOCYTOPENIA 3; THC3		4
HP:0011276	HP:0011276	Vascular skin abnormality	0	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy		109
HP:0011276	HP:0011276	Vascular skin abnormality	0	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0011276	HP:0011276	Vascular skin abnormality	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome		10
HP:0011276	HP:0011276	Vascular skin abnormality	0	GATA1 CL E G H	2623	4170	OMIM:314050	Thrombocytopenia with beta-thalassemia, X-linked		29
HP:0011276	HP:0011276	Vascular skin abnormality	0	GATA1 CL E G H	2623	4170	OMIM:300367	Thrombocytopenia, X-linked, with or without dyserythropoietic anemia		29
HP:0011276	HP:0011276	Vascular skin abnormality	0	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome		137
HP:0011276	HP:0011276	Vascular skin abnormality	0	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1
HP:0011276	HP:0011276	Vascular skin abnormality	0	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0011276	HP:0011276	Vascular skin abnormality	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0011276	HP:0011276	Vascular skin abnormality	0	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia		8
HP:0011276	HP:0011276	Vascular skin abnormality	0	GDF2 CL E G H	2658	4217	OMIM:615506	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5; HHT5		8
HP:0011276	HP:0011276	Vascular skin abnormality	0	GFI1B CL E G H	8328	4238	OMIM:187900	Bleeding disorder, platelet-type, 17		3
HP:0011276	HP:0011276	Vascular skin abnormality	0	GGCX CL E G H	2677	4247	OMIM:277450	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1		129
HP:0011276	HP:0011276	Vascular skin abnormality	0	GIMAP5 CL E G H	55340	18005	OMIM:619463	PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0011276	HP:0011276	Vascular skin abnormality	0	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia		68
HP:0011276	HP:0011276	Vascular skin abnormality	0	GJA1 CL E G H	2697	4274	ORPHA:317	Erythrokeratodermia variabilis		68
HP:0011276	HP:0011276	Vascular skin abnormality	0	GJA1 CL E G H	2697	4274	OMIM:617525	Erythrokeratodermia variabilis et progressiva 3		68
HP:0011276	HP:0011276	Vascular skin abnormality	0	GJA1 CL E G H	2697	4274	OMIM:104100	Palmoplantar keratoderma with congenital alopecia		68
HP:0011276	HP:0011276	Vascular skin abnormality	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0011276	HP:0011276	Vascular skin abnormality	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0011276	HP:0011276	Vascular skin abnormality	0	GJB3 CL E G H	2707	4285	ORPHA:317	Erythrokeratodermia variabilis		74
HP:0011276	HP:0011276	Vascular skin abnormality	0	GJB4 CL E G H	127534	4286	ORPHA:317	Erythrokeratodermia variabilis		12
HP:0011276	HP:0011276	Vascular skin abnormality	0	GJB4 CL E G H	127534	4286	OMIM:617524	Erythrokeratodermia variabilis et progressiva 2		12
HP:0011276	HP:0011276	Vascular skin abnormality	0	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease		291
HP:0011276	HP:0011276	Vascular skin abnormality	0	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease		291
HP:0011276	HP:0011276	Vascular skin abnormality	0	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I		120
HP:0011276	HP:0011276	Vascular skin abnormality	0	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL		98
HP:0011276	HP:0011276	Vascular skin abnormality	0	GNA11 CL E G H	2767	4379	ORPHA:1556	Cutis marmorata telangiectatica congenita		16
HP:0011276	HP:0011276	Vascular skin abnormality	0	GNA14 CL E G H	9630	4382	ORPHA:1063	Tufted angioma
HP:0011276	HP:0011276	Vascular skin abnormality	0	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome		7
HP:0011276	HP:0011276	Vascular skin abnormality	0	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia		101
HP:0011276	HP:0011276	Vascular skin abnormality	0	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		101
HP:0011276	HP:0011276	Vascular skin abnormality	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011276	HP:0011276	Vascular skin abnormality	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II		240
HP:0011276	HP:0011276	Vascular skin abnormality	0	GP1BA CL E G H	2811	4439	ORPHA:274	Bernard-Soulier syndrome		23
HP:0011276	HP:0011276	Vascular skin abnormality	0	GP1BA CL E G H	2811	4439	OMIM:153670	Bernard-Soulier syndrome, type A2, autosomal dominant		23
HP:0011276	HP:0011276	Vascular skin abnormality	0	GP1BA CL E G H	2811	4439	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		23
HP:0011276	HP:0011276	Vascular skin abnormality	0	GP1BA CL E G H	2811	4439	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia		23
HP:0011276	HP:0011276	Vascular skin abnormality	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome		8
HP:0011276	HP:0011276	Vascular skin abnormality	0	GP1BB CL E G H	2812	4440	ORPHA:274	Bernard-Soulier syndrome		8
HP:0011276	HP:0011276	Vascular skin abnormality	0	GP1BB CL E G H	2812	4440	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		8
HP:0011276	HP:0011276	Vascular skin abnormality	0	GP1BB CL E G H	2812	4440	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia		8
HP:0011276	HP:0011276	Vascular skin abnormality	0	GP6 CL E G H	51206	14388	OMIM:614201	Bleeding disorder, platelet-type, 11		24
HP:0011276	HP:0011276	Vascular skin abnormality	0	GP9 CL E G H	2815	4444	ORPHA:274	Bernard-Soulier syndrome		21
HP:0011276	HP:0011276	Vascular skin abnormality	0	GP9 CL E G H	2815	4444	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		21
HP:0011276	HP:0011276	Vascular skin abnormality	0	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis		2
HP:0011276	HP:0011276	Vascular skin abnormality	0	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis		53
HP:0011276	HP:0011276	Vascular skin abnormality	0	GUCY1A1 CL E G H	2982	4685	OMIM:615750	Moyamoya disease 6 with achalasia
HP:0011276	HP:0011276	Vascular skin abnormality	0	GUCY1A1 CL E G H	2982	4685	ORPHA:401945	Moyamoya disease with early-onset achalasia
HP:0011276	HP:0011276	Vascular skin abnormality	0	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0011276	HP:0011276	Vascular skin abnormality	0	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16		200
HP:0011276	HP:0011276	Vascular skin abnormality	0	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16		88
HP:0011276	HP:0011276	Vascular skin abnormality	0	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome		11
HP:0011276	HP:0011276	Vascular skin abnormality	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome		37
HP:0011276	HP:0011276	Vascular skin abnormality	0	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5		37
HP:0011276	HP:0011276	Vascular skin abnormality	0	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0011276	HP:0011276	Vascular skin abnormality	0	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection
HP:0011276	HP:0011276	Vascular skin abnormality	0	HFE CL E G H	3077	4886	OMIM:235200	Hemochromatosis, type 1		38
HP:0011276	HP:0011276	Vascular skin abnormality	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome		3
HP:0011276	HP:0011276	Vascular skin abnormality	0	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome		4
HP:0011276	HP:0011276	Vascular skin abnormality	0	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis
HP:0011276	HP:0011276	Vascular skin abnormality	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis		1
HP:0011276	HP:0011276	Vascular skin abnormality	0	HLA-DQB1 CL E G H	3119	4944	ORPHA:703	Bullous pemphigoid
HP:0011276	HP:0011276	Vascular skin abnormality	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:703	Bullous pemphigoid		2
HP:0011276	HP:0011276	Vascular skin abnormality	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:220393	Diffuse cutaneous systemic sclerosis		2
HP:0011276	HP:0011276	Vascular skin abnormality	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:220402	Limited cutaneous systemic sclerosis		2
HP:0011276	HP:0011276	Vascular skin abnormality	0	HOXA11 CL E G H	3207	5101	OMIM:605432	Radioulnar synostosis with amegakaryocytic thrombocytopenia		3
HP:0011276	HP:0011276	Vascular skin abnormality	0	HPGD CL E G H	3248	5154	OMIM:259100	Hypertrophic osteoarthropathy, primary, autosomal recessive 1		55
HP:0011276	HP:0011276	Vascular skin abnormality	0	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1		121
HP:0011276	HP:0011276	Vascular skin abnormality	0	HPS3 CL E G H	84343	15597	OMIM:614072	Hermansky-Pudlak syndrome 3		67
HP:0011276	HP:0011276	Vascular skin abnormality	0	HPS4 CL E G H	89781	15844	OMIM:614073	Hermansky-Pudlak syndrome 4		123
HP:0011276	HP:0011276	Vascular skin abnormality	0	HPS5 CL E G H	11234	17022	OMIM:614074	Hermansky-Pudlak syndrome 5		105
HP:0011276	HP:0011276	Vascular skin abnormality	0	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6		45
HP:0011276	HP:0011276	Vascular skin abnormality	0	HS3ST6 CL E G H	64711	14178	OMIM:619367	ANGIOEDEMA, HEREDITARY, 8; HAE8
HP:0011276	HP:0011276	Vascular skin abnormality	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome		345
HP:0011276	HP:0011276	Vascular skin abnormality	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia		25
HP:0011276	HP:0011276	Vascular skin abnormality	0	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency		32
HP:0011276	HP:0011276	Vascular skin abnormality	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome		28
HP:0011276	HP:0011276	Vascular skin abnormality	0	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7		28
HP:0011276	HP:0011276	Vascular skin abnormality	0	IFNG CL E G H	3458	5438	ORPHA:88	Idiopathic aplastic anemia		23
HP:0011276	HP:0011276	Vascular skin abnormality	0	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti		52
HP:0011276	HP:0011276	Vascular skin abnormality	0	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti		52
HP:0011276	HP:0011276	Vascular skin abnormality	0	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome		8
HP:0011276	HP:0011276	Vascular skin abnormality	0	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis
HP:0011276	HP:0011276	Vascular skin abnormality	0	IL12RB1 CL E G H	3594	5971	ORPHA:319552	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency		46
HP:0011276	HP:0011276	Vascular skin abnormality	0	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis		46
HP:0011276	HP:0011276	Vascular skin abnormality	0	IL17F CL E G H	112744	16404	ORPHA:1334	Chronic mucocutaneous candidiasis		14
HP:0011276	HP:0011276	Vascular skin abnormality	0	IL17RA CL E G H	23765	5985	ORPHA:1334	Chronic mucocutaneous candidiasis		196
HP:0011276	HP:0011276	Vascular skin abnormality	0	IL17RC CL E G H	84818	18358	ORPHA:1334	Chronic mucocutaneous candidiasis		4
HP:0011276	HP:0011276	Vascular skin abnormality	0	IL36RN CL E G H	26525	15561	OMIM:614204	PSORIASIS 14, PUSTULAR; PSORS14		51
HP:0011276	HP:0011276	Vascular skin abnormality	0	IL7 CL E G H	3574	6023	ORPHA:302	Epidermodysplasia verruciformis
HP:0011276	HP:0011276	Vascular skin abnormality	0	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome
HP:0011276	HP:0011276	Vascular skin abnormality	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0011276	HP:0011276	Vascular skin abnormality	0	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia		4
HP:0011276	HP:0011276	Vascular skin abnormality	0	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency		4
HP:0011276	HP:0011276	Vascular skin abnormality	0	IRF5 CL E G H	3663	6120	ORPHA:220393	Diffuse cutaneous systemic sclerosis		4
HP:0011276	HP:0011276	Vascular skin abnormality	0	IRF5 CL E G H	3663	6120	ORPHA:220402	Limited cutaneous systemic sclerosis		4
HP:0011276	HP:0011276	Vascular skin abnormality	0	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis		4
HP:0011276	HP:0011276	Vascular skin abnormality	0	ITGA2 CL E G H	3673	6137	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia		119
HP:0011276	HP:0011276	Vascular skin abnormality	0	ITGA2B CL E G H	3674	6138	OMIM:187800	Bleeding disorder, platelet-type, 16		69
HP:0011276	HP:0011276	Vascular skin abnormality	0	ITGA2B CL E G H	3674	6138	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia		69
HP:0011276	HP:0011276	Vascular skin abnormality	0	ITGA2B CL E G H	3674	6138	OMIM:273800	Glanzmann thrombasthenia		69
HP:0011276	HP:0011276	Vascular skin abnormality	0	ITGA2B CL E G H	3674	6138	ORPHA:849	Glanzmann thrombasthenia		69
HP:0011276	HP:0011276	Vascular skin abnormality	0	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital		6
HP:0011276	HP:0011276	Vascular skin abnormality	0	ITGB3 CL E G H	3690	6156	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia		80
HP:0011276	HP:0011276	Vascular skin abnormality	0	ITGB3 CL E G H	3690	6156	ORPHA:849	Glanzmann thrombasthenia		80
HP:0011276	HP:0011276	Vascular skin abnormality	0	ITGB3 CL E G H	3690	6156	OMIM:619267	GLANZMANN THROMBASTHENIA 2; GT2		80
HP:0011276	HP:0011276	Vascular skin abnormality	0	JAK2 CL E G H	3717	6192	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included		57
HP:0011276	HP:0011276	Vascular skin abnormality	0	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera		57
HP:0011276	HP:0011276	Vascular skin abnormality	0	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis		57
HP:0011276	HP:0011276	Vascular skin abnormality	0	JAM2 CL E G H	58494	14686	ORPHA:1980	Bilateral striopallidodentate calcinosis
HP:0011276	HP:0011276	Vascular skin abnormality	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome		2
HP:0011276	HP:0011276	Vascular skin abnormality	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome		1
HP:0011276	HP:0011276	Vascular skin abnormality	0	KCNQ2 CL E G H	3785	6296	ORPHA:439218	KCNQ2-related epileptic encephalopathy		528
HP:0011276	HP:0011276	Vascular skin abnormality	0	KDSR CL E G H	2531	4021	ORPHA:317	Erythrokeratodermia variabilis		4
HP:0011276	HP:0011276	Vascular skin abnormality	0	KDSR CL E G H	2531	4021	OMIM:617526	Erythrokeratodermia variabilis et progressiva 4		4
HP:0011276	HP:0011276	Vascular skin abnormality	0	KDSR CL E G H	2531	4021	ORPHA:316	Progressive symmetric erythrokeratodermia		4
HP:0011276	HP:0011276	Vascular skin abnormality	0	KIAA0319L CL E G H	79932	30071	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0011276	HP:0011276	Vascular skin abnormality	0	KIT CL E G H	3815	6342	ORPHA:280785	Bullous diffuse cutaneous mastocytosis		327
HP:0011276	HP:0011276	Vascular skin abnormality	0	KIT CL E G H	3815	6342	ORPHA:79455	Cutaneous mastocytoma		327
HP:0011276	HP:0011276	Vascular skin abnormality	0	KIT CL E G H	3815	6342	OMIM:606764	Gastrointestinal stromal tumor		327
HP:0011276	HP:0011276	Vascular skin abnormality	0	KIT CL E G H	3815	6342	OMIM:154800	Mastocytosis, cutaneous		327
HP:0011276	HP:0011276	Vascular skin abnormality	0	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		327
HP:0011276	HP:0011276	Vascular skin abnormality	0	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome		1
HP:0011276	HP:0011276	Vascular skin abnormality	0	KNG1 CL E G H	3827	6383	OMIM:619363	ANGIOEDEMA, HEREDITARY, 6; HAE6		7
HP:0011276	HP:0011276	Vascular skin abnormality	0	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3		196
HP:0011276	HP:0011276	Vascular skin abnormality	0	KRIT1 CL E G H	889	1573	ORPHA:221061	Familial cerebral cavernous malformation	HP:0040283 - Occasional	92
HP:0011276	HP:0011276	Vascular skin abnormality	0	KRT1 CL E G H	3848	6412	ORPHA:530838	KRT1-related diffuse nonepidermolytic keratoderma		100
HP:0011276	HP:0011276	Vascular skin abnormality	0	KRT10 CL E G H	3858	6413	OMIM:607602	Ichthyosis, cyclic, with epidermolytic hyperkeratosis		45
HP:0011276	HP:0011276	Vascular skin abnormality	0	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form		110
HP:0011276	HP:0011276	Vascular skin abnormality	0	KRT2 CL E G H	3849	6439	ORPHA:455	Superficial epidermolytic ichthyosis		67
HP:0011276	HP:0011276	Vascular skin abnormality	0	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form		173
HP:0011276	HP:0011276	Vascular skin abnormality	0	KRT5 CL E G H	3852	6442	ORPHA:158681	Epidermolysis bullosa simplex with circinate migratory erythema		173
HP:0011276	HP:0011276	Vascular skin abnormality	0	KRT5 CL E G H	3852	6442	OMIM:609352	EPIDERMOLYSIS BULLOSA SIMPLEX WITH MIGRATORY CIRCINATE ERYTHEMA		173
HP:0011276	HP:0011276	Vascular skin abnormality	0	KRT83 CL E G H	3889	6460	ORPHA:316	Progressive symmetric erythrokeratodermia		65
HP:0011276	HP:0011276	Vascular skin abnormality	0	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome		16
HP:0011276	HP:0011276	Vascular skin abnormality	0	LBR CL E G H	3930	6518	OMIM:613471	Reynolds syndrome		70
HP:0011276	HP:0011276	Vascular skin abnormality	0	LBR CL E G H	3930	6518	ORPHA:779	Reynolds syndrome		70
HP:0011276	HP:0011276	Vascular skin abnormality	0	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0011276	HP:0011276	Vascular skin abnormality	0	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS		1
HP:0011276	HP:0011276	Vascular skin abnormality	0	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0011276	HP:0011276	Vascular skin abnormality	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome		88
HP:0011276	HP:0011276	Vascular skin abnormality	0	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome		88
HP:0011276	HP:0011276	Vascular skin abnormality	0	LIG4 CL E G H	3981	6601	OMIM:606593	Lig4 syndrome		88
HP:0011276	HP:0011276	Vascular skin abnormality	0	LIPN CL E G H	643418	23452	OMIM:613943	Ichthyosis, congenital, autosomal recessive 8		1
HP:0011276	HP:0011276	Vascular skin abnormality	0	LMAN1 CL E G H	3998	6631	ORPHA:35909	Combined deficiency of factor V and factor VIII		56
HP:0011276	HP:0011276	Vascular skin abnormality	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome		645
HP:0011276	HP:0011276	Vascular skin abnormality	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome		645
HP:0011276	HP:0011276	Vascular skin abnormality	0	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2		645
HP:0011276	HP:0011276	Vascular skin abnormality	0	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome		165
HP:0011276	HP:0011276	Vascular skin abnormality	0	LORICRIN CL E G H	4014	6663	ORPHA:316	Progressive symmetric erythrokeratodermia
HP:0011276	HP:0011276	Vascular skin abnormality	0	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		6
HP:0011276	HP:0011276	Vascular skin abnormality	0	LRP1 CL E G H	4035	6692	ORPHA:79100	Atrophoderma vermiculata		4
HP:0011276	HP:0011276	Vascular skin abnormality	0	LRP1 CL E G H	4035	6692	OMIM:604093	Keratosis pilaris atrophicans		4
HP:0011276	HP:0011276	Vascular skin abnormality	0	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy		125
HP:0011276	HP:0011276	Vascular skin abnormality	0	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0011276	HP:0011276	Vascular skin abnormality	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0011276	HP:0011276	Vascular skin abnormality	0	LYST CL E G H	1130	1968	ORPHA:352723	Attenuated Chédiak-Higashi syndrome		239
HP:0011276	HP:0011276	Vascular skin abnormality	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome		239
HP:0011276	HP:0011276	Vascular skin abnormality	0	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome		239
HP:0011276	HP:0011276	Vascular skin abnormality	0	MANBA CL E G H	4126	6831	OMIM:248510	MANNOSIDOSIS, BETA A, LYSOSOMAL		55
HP:0011276	HP:0011276	Vascular skin abnormality	0	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1		134
HP:0011276	HP:0011276	Vascular skin abnormality	0	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0011276	HP:0011276	Vascular skin abnormality	0	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1		21
HP:0011276	HP:0011276	Vascular skin abnormality	0	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		13
HP:0011276	HP:0011276	Vascular skin abnormality	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome		22
HP:0011276	HP:0011276	Vascular skin abnormality	0	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked		22
HP:0011276	HP:0011276	Vascular skin abnormality	0	MBTPS2 CL E G H	51360	15455	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques		22
HP:0011276	HP:0011276	Vascular skin abnormality	0	MCFD2 CL E G H	90411	18451	ORPHA:35909	Combined deficiency of factor V and factor VIII		77
HP:0011276	HP:0011276	Vascular skin abnormality	0	MEFV CL E G H	4210	6998	ORPHA:342	Familial Mediterranean fever		281
HP:0011276	HP:0011276	Vascular skin abnormality	0	MEFV CL E G H	4210	6998	OMIM:608068	NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE		281
HP:0011276	HP:0011276	Vascular skin abnormality	0	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		11
HP:0011276	HP:0011276	Vascular skin abnormality	0	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis
HP:0011276	HP:0011276	Vascular skin abnormality	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0011276	HP:0011276	Vascular skin abnormality	0	MPL CL E G H	4352	7217	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included		97
HP:0011276	HP:0011276	Vascular skin abnormality	0	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera		97
HP:0011276	HP:0011276	Vascular skin abnormality	0	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis		97
HP:0011276	HP:0011276	Vascular skin abnormality	0	MRE11 CL E G H	4361	7230	OMIM:604391	Ataxia-Telangiectasia-Like disorder 1		532
HP:0011276	HP:0011276	Vascular skin abnormality	0	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency		1
HP:0011276	HP:0011276	Vascular skin abnormality	0	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis		1
HP:0011276	HP:0011276	Vascular skin abnormality	0	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma		85
HP:0011276	HP:0011276	Vascular skin abnormality	0	MVK CL E G H	4598	7530	ORPHA:343	Hyperimmunoglobulinemia D with periodic fever		150
HP:0011276	HP:0011276	Vascular skin abnormality	0	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia		9
HP:0011276	HP:0011276	Vascular skin abnormality	0	MYH11 CL E G H	4629	7569	OMIM:132900	Aortic aneurysm, familial thoracic 4		418
HP:0011276	HP:0011276	Vascular skin abnormality	0	MYH11 CL E G H	4629	7569	ORPHA:229	Familial aortic dissection		418
HP:0011276	HP:0011276	Vascular skin abnormality	0	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		418
HP:0011276	HP:0011276	Vascular skin abnormality	0	MYH9 CL E G H	4627	7579	OMIM:155100	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss		297
HP:0011276	HP:0011276	Vascular skin abnormality	0	MYH9 CL E G H	4627	7579	ORPHA:182050	MYH9-related disease		297
HP:0011276	HP:0011276	Vascular skin abnormality	0	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		326
HP:0011276	HP:0011276	Vascular skin abnormality	0	MYOF CL E G H	26509	3656	OMIM:619366	ANGIOEDEMA, HEREDITARY, 7; HAE7
HP:0011276	HP:0011276	Vascular skin abnormality	0	MYORG CL E G H	57462	19918	ORPHA:1980	Bilateral striopallidodentate calcinosis
HP:0011276	HP:0011276	Vascular skin abnormality	0	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia
HP:0011276	HP:0011276	Vascular skin abnormality	0	NAGA CL E G H	4668	7631	ORPHA:79279	Alpha-N-acetylgalactosaminidase deficiency type 1		47
HP:0011276	HP:0011276	Vascular skin abnormality	0	NAGA CL E G H	4668	7631	ORPHA:79280	Alpha-N-acetylgalactosaminidase deficiency type 2		47
HP:0011276	HP:0011276	Vascular skin abnormality	0	NAGA CL E G H	4668	7631	OMIM:609242	Kanzaki disease		47
HP:0011276	HP:0011276	Vascular skin abnormality	0	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0011276	HP:0011276	Vascular skin abnormality	0	NBEAL2 CL E G H	23218	31928	OMIM:139090	Gray platelet syndrome		127
HP:0011276	HP:0011276	Vascular skin abnormality	0	NBEAL2 CL E G H	23218	31928	ORPHA:721	Gray platelet syndrome		127
HP:0011276	HP:0011276	Vascular skin abnormality	0	ND1 CL E G H	4535	7455	ORPHA:104	Leber hereditary optic neuropathy
HP:0011276	HP:0011276	Vascular skin abnormality	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0011276	HP:0011276	Vascular skin abnormality	0	ND2 CL E G H	4536	7456	ORPHA:104	Leber hereditary optic neuropathy
HP:0011276	HP:0011276	Vascular skin abnormality	0	ND4 CL E G H	4538	7459	ORPHA:104	Leber hereditary optic neuropathy
HP:0011276	HP:0011276	Vascular skin abnormality	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0011276	HP:0011276	Vascular skin abnormality	0	ND4L CL E G H	4539	7460	ORPHA:104	Leber hereditary optic neuropathy
HP:0011276	HP:0011276	Vascular skin abnormality	0	ND5 CL E G H	4540	7461	ORPHA:104	Leber hereditary optic neuropathy
HP:0011276	HP:0011276	Vascular skin abnormality	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0011276	HP:0011276	Vascular skin abnormality	0	ND6 CL E G H	4541	7462	ORPHA:104	Leber hereditary optic neuropathy
HP:0011276	HP:0011276	Vascular skin abnormality	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0011276	HP:0011276	Vascular skin abnormality	0	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy		39
HP:0011276	HP:0011276	Vascular skin abnormality	0	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome		3
HP:0011276	HP:0011276	Vascular skin abnormality	0	NDUFS2 CL E G H	4720	7708	ORPHA:104	Leber hereditary optic neuropathy		65
HP:0011276	HP:0011276	Vascular skin abnormality	0	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2		43
HP:0011276	HP:0011276	Vascular skin abnormality	0	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1	HP:0040281 - Very frequent	43
HP:0011276	HP:0011276	Vascular skin abnormality	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome		1952
HP:0011276	HP:0011276	Vascular skin abnormality	0	NFIA CL E G H	4774	7784	ORPHA:401986	1p31p32 microdeletion syndrome		12
HP:0011276	HP:0011276	Vascular skin abnormality	0	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects		12
HP:0011276	HP:0011276	Vascular skin abnormality	0	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome		40
HP:0011276	HP:0011276	Vascular skin abnormality	0	NFIX CL E G H	4784	7788	OMIM:614753	Sotos syndrome 2		40
HP:0011276	HP:0011276	Vascular skin abnormality	0	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency		7
HP:0011276	HP:0011276	Vascular skin abnormality	0	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency		11
HP:0011276	HP:0011276	Vascular skin abnormality	0	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita		27
HP:0011276	HP:0011276	Vascular skin abnormality	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome		494
HP:0011276	HP:0011276	Vascular skin abnormality	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1		494
HP:0011276	HP:0011276	Vascular skin abnormality	0	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC		30
HP:0011276	HP:0011276	Vascular skin abnormality	0	NLRC4 CL E G H	58484	16412	OMIM:616115	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4; FCAS4		30
HP:0011276	HP:0011276	Vascular skin abnormality	0	NLRP12 CL E G H	91662	22938	OMIM:611762	Familial cold autoinflammatory syndrome 2		99
HP:0011276	HP:0011276	Vascular skin abnormality	0	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome		217
HP:0011276	HP:0011276	Vascular skin abnormality	0	NLRP3 CL E G H	114548	16400	OMIM:617772	Deafness, autosomal dominant 34, with or without inflammation		217
HP:0011276	HP:0011276	Vascular skin abnormality	0	NLRP3 CL E G H	114548	16400	OMIM:120100	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1		217
HP:0011276	HP:0011276	Vascular skin abnormality	0	NLRP3 CL E G H	114548	16400	ORPHA:47045	Familial cold urticaria		217
HP:0011276	HP:0011276	Vascular skin abnormality	0	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome		217
HP:0011276	HP:0011276	Vascular skin abnormality	0	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome		187
HP:0011276	HP:0011276	Vascular skin abnormality	0	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita		17
HP:0011276	HP:0011276	Vascular skin abnormality	0	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome		452
HP:0011276	HP:0011276	Vascular skin abnormality	0	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia		12
HP:0011276	HP:0011276	Vascular skin abnormality	0	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita		12
HP:0011276	HP:0011276	Vascular skin abnormality	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0011276	HP:0011276	Vascular skin abnormality	0	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34
HP:0011276	HP:0011276	Vascular skin abnormality	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome		84
HP:0011276	HP:0011276	Vascular skin abnormality	0	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4		97
HP:0011276	HP:0011276	Vascular skin abnormality	0	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia
HP:0011276	HP:0011276	Vascular skin abnormality	0	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria		23
HP:0011276	HP:0011276	Vascular skin abnormality	0	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome	HP:0040283 - Occasional	1
HP:0011276	HP:0011276	Vascular skin abnormality	0	ORAI1 CL E G H	84876	25896	ORPHA:3204	Stormorken-Sjaastad-Langslet syndrome		19
HP:0011276	HP:0011276	Vascular skin abnormality	0	P2RY12 CL E G H	64805	18124	OMIM:609821	Bleeding disorder, platelet-type, 8		5
HP:0011276	HP:0011276	Vascular skin abnormality	0	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita		26
HP:0011276	HP:0011276	Vascular skin abnormality	0	PCNA CL E G H	5111	8729	OMIM:615919	Ataxia-Telangiectasia-Like disorder 2		1
HP:0011276	HP:0011276	Vascular skin abnormality	0	PCNA CL E G H	5111	8729	ORPHA:438134	PCNA-related progressive neurodegenerative photosensitivity syndrome		1
HP:0011276	HP:0011276	Vascular skin abnormality	0	PDCD10 CL E G H	11235	8761	ORPHA:221061	Familial cerebral cavernous malformation	HP:0040283 - Occasional	21
HP:0011276	HP:0011276	Vascular skin abnormality	0	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0011276	HP:0011276	Vascular skin abnormality	0	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2		13
HP:0011276	HP:0011276	Vascular skin abnormality	0	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease		13
HP:0011276	HP:0011276	Vascular skin abnormality	0	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease		75
HP:0011276	HP:0011276	Vascular skin abnormality	0	PDGFB CL E G H	5155	8800	ORPHA:1980	Bilateral striopallidodentate calcinosis		9
HP:0011276	HP:0011276	Vascular skin abnormality	0	PDGFB CL E G H	5155	8800	ORPHA:31112	Dermatofibrosarcoma protuberans		9
HP:0011276	HP:0011276	Vascular skin abnormality	0	PDGFRB CL E G H	5159	8804	ORPHA:1980	Bilateral striopallidodentate calcinosis		28
HP:0011276	HP:0011276	Vascular skin abnormality	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0011276	HP:0011276	Vascular skin abnormality	0	PDSS1 CL E G H	23590	17759	OMIM:614651	Coenzyme Q10 deficiency, primary, 2		40
HP:0011276	HP:0011276	Vascular skin abnormality	0	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency		66
HP:0011276	HP:0011276	Vascular skin abnormality	0	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency		66
HP:0011276	HP:0011276	Vascular skin abnormality	0	PERP CL E G H	64065	17637	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques
HP:0011276	HP:0011276	Vascular skin abnormality	0	PEX6 CL E G H	5190	8859	ORPHA:95433	Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome		98
HP:0011276	HP:0011276	Vascular skin abnormality	0	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		8
HP:0011276	HP:0011276	Vascular skin abnormality	0	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		20
HP:0011276	HP:0011276	Vascular skin abnormality	0	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0011276	HP:0011276	Vascular skin abnormality	0	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0011276	HP:0011276	Vascular skin abnormality	0	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome		36
HP:0011276	HP:0011276	Vascular skin abnormality	0	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		36
HP:0011276	HP:0011276	Vascular skin abnormality	0	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		84
HP:0011276	HP:0011276	Vascular skin abnormality	0	PIGT CL E G H	51604	14938	OMIM:615399	Paroxysmal nocturnal hemoglobinuria 2		12
HP:0011276	HP:0011276	Vascular skin abnormality	0	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		57
HP:0011276	HP:0011276	Vascular skin abnormality	0	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		6
HP:0011276	HP:0011276	Vascular skin abnormality	0	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		2
HP:0011276	HP:0011276	Vascular skin abnormality	0	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome		162
HP:0011276	HP:0011276	Vascular skin abnormality	0	PIK3CA CL E G H	5290	8975	ORPHA:276280	Hemihyperplasia-multiple lipomatosis syndrome		162
HP:0011276	HP:0011276	Vascular skin abnormality	0	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome		162
HP:0011276	HP:0011276	Vascular skin abnormality	0	PIK3CA CL E G H	5290	8975	ORPHA:60040	Megalencephaly-capillary malformation-polymicrogyria syndrome		162
HP:0011276	HP:0011276	Vascular skin abnormality	0	PLAU CL E G H	5328	9052	OMIM:601709	Quebec platelet disorder		50
HP:0011276	HP:0011276	Vascular skin abnormality	0	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated		21
HP:0011276	HP:0011276	Vascular skin abnormality	0	PLCG2 CL E G H	5336	9066	OMIM:614468	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3		21
HP:0011276	HP:0011276	Vascular skin abnormality	0	PLEC CL E G H	5339	9069	OMIM:131950	Epidermolysis bullosa simplex, Ogna type		759
HP:0011276	HP:0011276	Vascular skin abnormality	0	PLG CL E G H	5340	9071	OMIM:619360	ANGIOEDEMA, HEREDITARY, 4; HAE4		11
HP:0011276	HP:0011276	Vascular skin abnormality	0	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1		105
HP:0011276	HP:0011276	Vascular skin abnormality	0	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency		105
HP:0011276	HP:0011276	Vascular skin abnormality	0	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness		5
HP:0011276	HP:0011276	Vascular skin abnormality	0	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia		3
HP:0011276	HP:0011276	Vascular skin abnormality	0	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR		2
HP:0011276	HP:0011276	Vascular skin abnormality	0	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome		731
HP:0011276	HP:0011276	Vascular skin abnormality	0	POLE CL E G H	5426	9177	OMIM:615139	Facial dysmorphism, immunodeficiency, livedo, and short stature		1129
HP:0011276	HP:0011276	Vascular skin abnormality	0	POLH CL E G H	5429	9181	ORPHA:90342	Xeroderma pigmentosum variant		155
HP:0011276	HP:0011276	Vascular skin abnormality	0	POLH CL E G H	5429	9181	OMIM:278750	Xeroderma pigmentosum, Variant type		155
HP:0011276	HP:0011276	Vascular skin abnormality	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0011276	HP:0011276	Vascular skin abnormality	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0011276	HP:0011276	Vascular skin abnormality	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia		20
HP:0011276	HP:0011276	Vascular skin abnormality	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia		20
HP:0011276	HP:0011276	Vascular skin abnormality	0	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis
HP:0011276	HP:0011276	Vascular skin abnormality	0	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy		42
HP:0011276	HP:0011276	Vascular skin abnormality	0	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3		42
HP:0011276	HP:0011276	Vascular skin abnormality	0	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy		42
HP:0011276	HP:0011276	Vascular skin abnormality	0	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2		2
HP:0011276	HP:0011276	Vascular skin abnormality	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome		148
HP:0011276	HP:0011276	Vascular skin abnormality	0	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome		58
HP:0011276	HP:0011276	Vascular skin abnormality	0	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		58
HP:0011276	HP:0011276	Vascular skin abnormality	0	PRF1 CL E G H	5551	9360	ORPHA:88	Idiopathic aplastic anemia		58
HP:0011276	HP:0011276	Vascular skin abnormality	0	PRKACA CL E G H	5566	9380	OMIM:615830	Pigmented nodular adrenocortical disease, primary, 4		2
HP:0011276	HP:0011276	Vascular skin abnormality	0	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease		2
HP:0011276	HP:0011276	Vascular skin abnormality	0	PRKACG CL E G H	5568	9382	OMIM:616176	Bleeding disorder, platelet-type, 19		2
HP:0011276	HP:0011276	Vascular skin abnormality	0	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia		134
HP:0011276	HP:0011276	Vascular skin abnormality	0	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0011276	HP:0011276	Vascular skin abnormality	0	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1		134
HP:0011276	HP:0011276	Vascular skin abnormality	0	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease		134
HP:0011276	HP:0011276	Vascular skin abnormality	0	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0011276	HP:0011276	Vascular skin abnormality	0	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency		10
HP:0011276	HP:0011276	Vascular skin abnormality	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0011276	HP:0011276	Vascular skin abnormality	0	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		41
HP:0011276	HP:0011276	Vascular skin abnormality	0	PROC CL E G H	5624	9451	ORPHA:745	Severe hereditary thrombophilia due to congenital protein C deficiency		65
HP:0011276	HP:0011276	Vascular skin abnormality	0	PROC CL E G H	5624	9451	OMIM:612304	Thrombophilia due to protein C deficiency, autosomal recessive		65
HP:0011276	HP:0011276	Vascular skin abnormality	0	PROS1 CL E G H	5627	9456	ORPHA:743	Severe hereditary thrombophilia due to congenital protein S deficiency		75
HP:0011276	HP:0011276	Vascular skin abnormality	0	PROS1 CL E G H	5627	9456	OMIM:614514	Thrombophilia due to protein S deficiency, autosomal recessive		75
HP:0011276	HP:0011276	Vascular skin abnormality	0	PROS1 CL E G H	5627	9456	OMIM:612336	Thrombophilia, hereditary, due to protein S deficiency, autosomal		75
HP:0011276	HP:0011276	Vascular skin abnormality	0	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis
HP:0011276	HP:0011276	Vascular skin abnormality	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0011276	HP:0011276	Vascular skin abnormality	0	PSMG2 CL E G H	56984	24929	OMIM:619183	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0011276	HP:0011276	Vascular skin abnormality	0	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism		6
HP:0011276	HP:0011276	Vascular skin abnormality	0	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome		948
HP:0011276	HP:0011276	Vascular skin abnormality	0	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome		948
HP:0011276	HP:0011276	Vascular skin abnormality	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent	948
HP:0011276	HP:0011276	Vascular skin abnormality	0	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1		291
HP:0011276	HP:0011276	Vascular skin abnormality	0	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis		3
HP:0011276	HP:0011276	Vascular skin abnormality	0	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB		53
HP:0011276	HP:0011276	Vascular skin abnormality	0	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB		53
HP:0011276	HP:0011276	Vascular skin abnormality	0	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2		67
HP:0011276	HP:0011276	Vascular skin abnormality	0	RAC2 CL E G H	5880	9802	OMIM:618987	IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C		9
HP:0011276	HP:0011276	Vascular skin abnormality	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome		25
HP:0011276	HP:0011276	Vascular skin abnormality	0	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4		25
HP:0011276	HP:0011276	Vascular skin abnormality	0	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia		2
HP:0011276	HP:0011276	Vascular skin abnormality	0	RASA1 CL E G H	5921	9871	ORPHA:137667	Capillary malformation-arteriovenous malformation	HP:0040282 - Frequent	88
HP:0011276	HP:0011276	Vascular skin abnormality	0	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome		88
HP:0011276	HP:0011276	Vascular skin abnormality	0	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0011276	HP:0011276	Vascular skin abnormality	0	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome		3
HP:0011276	HP:0011276	Vascular skin abnormality	0	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2		445
HP:0011276	HP:0011276	Vascular skin abnormality	0	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS		445
HP:0011276	HP:0011276	Vascular skin abnormality	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome		16
HP:0011276	HP:0011276	Vascular skin abnormality	0	RHOH CL E G H	399	686	OMIM:618307	Epidermodysplasia verruciformis, susceptibility to, 4
HP:0011276	HP:0011276	Vascular skin abnormality	0	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome		43
HP:0011276	HP:0011276	Vascular skin abnormality	0	RIN2 CL E G H	54453	18750	ORPHA:217335	RIN2 syndrome		43
HP:0011276	HP:0011276	Vascular skin abnormality	0	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome		33
HP:0011276	HP:0011276	Vascular skin abnormality	0	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome		34
HP:0011276	HP:0011276	Vascular skin abnormality	0	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome		60
HP:0011276	HP:0011276	Vascular skin abnormality	0	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive		3
HP:0011276	HP:0011276	Vascular skin abnormality	0	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome		7
HP:0011276	HP:0011276	Vascular skin abnormality	0	RNF213 CL E G H	57674	14539	ORPHA:2573	Moyamoya disease		14
HP:0011276	HP:0011276	Vascular skin abnormality	0	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0011276	HP:0011276	Vascular skin abnormality	0	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome		65
HP:0011276	HP:0011276	Vascular skin abnormality	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0011276	HP:0011276	Vascular skin abnormality	0	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita		77
HP:0011276	HP:0011276	Vascular skin abnormality	0	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis		181
HP:0011276	HP:0011276	Vascular skin abnormality	0	RUNX1 CL E G H	861	10471	OMIM:601399	Platelet disorder, familial, with associated myeloid malignancy		181
HP:0011276	HP:0011276	Vascular skin abnormality	0	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome		8
HP:0011276	HP:0011276	Vascular skin abnormality	0	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome		55
HP:0011276	HP:0011276	Vascular skin abnormality	0	SBDS CL E G H	51119	19440	ORPHA:88	Idiopathic aplastic anemia		26
HP:0011276	HP:0011276	Vascular skin abnormality	0	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1		77
HP:0011276	HP:0011276	Vascular skin abnormality	0	SCN10A CL E G H	6336	10582	ORPHA:90026	Primary erythromelalgia		146
HP:0011276	HP:0011276	Vascular skin abnormality	0	SCN11A CL E G H	11280	10583	ORPHA:90026	Primary erythromelalgia		19
HP:0011276	HP:0011276	Vascular skin abnormality	0	SCN9A CL E G H	6335	10597	ORPHA:90026	Primary erythromelalgia		318
HP:0011276	HP:0011276	Vascular skin abnormality	0	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome		237
HP:0011276	HP:0011276	Vascular skin abnormality	0	SDHB CL E G H	6390	10681	OMIM:606764	Gastrointestinal stromal tumor		237
HP:0011276	HP:0011276	Vascular skin abnormality	0	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome		147
HP:0011276	HP:0011276	Vascular skin abnormality	0	SDHC CL E G H	6391	10682	OMIM:606764	Gastrointestinal stromal tumor		147
HP:0011276	HP:0011276	Vascular skin abnormality	0	SDHD CL E G H	6392	10683	ORPHA:100093	Carcinoid syndrome		129
HP:0011276	HP:0011276	Vascular skin abnormality	0	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome		129
HP:0011276	HP:0011276	Vascular skin abnormality	0	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome		60
HP:0011276	HP:0011276	Vascular skin abnormality	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0011276	HP:0011276	Vascular skin abnormality	0	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0011276	HP:0011276	Vascular skin abnormality	0	SERPINE1 CL E G H	5054	8583	ORPHA:465	Congenital plasminogen activator inhibitor type 1 deficiency		39
HP:0011276	HP:0011276	Vascular skin abnormality	0	SERPINF2 CL E G H	5345	9075	ORPHA:79	Congenital alpha2-antiplasmin deficiency		8
HP:0011276	HP:0011276	Vascular skin abnormality	0	SERPINF2 CL E G H	5345	9075	OMIM:262850	Plasmin inhibitor deficiency		8
HP:0011276	HP:0011276	Vascular skin abnormality	0	SERPING1 CL E G H	710	1228	OMIM:106100	Angioedema, hereditary, 1		64
HP:0011276	HP:0011276	Vascular skin abnormality	0	SERPING1 CL E G H	710	1228	ORPHA:100050	Hereditary angioedema type 1		64
HP:0011276	HP:0011276	Vascular skin abnormality	0	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1		162
HP:0011276	HP:0011276	Vascular skin abnormality	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type		49
HP:0011276	HP:0011276	Vascular skin abnormality	0	SH2B3 CL E G H	10019	29605	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included		4
HP:0011276	HP:0011276	Vascular skin abnormality	0	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0011276	HP:0011276	Vascular skin abnormality	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome		150
HP:0011276	HP:0011276	Vascular skin abnormality	0	SLC20A2 CL E G H	6575	10947	ORPHA:1980	Bilateral striopallidodentate calcinosis		70
HP:0011276	HP:0011276	Vascular skin abnormality	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0011276	HP:0011276	Vascular skin abnormality	0	SLC27A4 CL E G H	10999	10998	OMIM:608649	ICHTHYOSIS PREMATURITY SYNDROME; IPS		26
HP:0011276	HP:0011276	Vascular skin abnormality	0	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome		68
HP:0011276	HP:0011276	Vascular skin abnormality	0	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0011276	HP:0011276	Vascular skin abnormality	0	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome		178
HP:0011276	HP:0011276	Vascular skin abnormality	0	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome		178
HP:0011276	HP:0011276	Vascular skin abnormality	0	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf		24
HP:0011276	HP:0011276	Vascular skin abnormality	0	SLC35A1 CL E G H	10559	11021	ORPHA:238459	SLC35A1-CDG		24
HP:0011276	HP:0011276	Vascular skin abnormality	0	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib		110
HP:0011276	HP:0011276	Vascular skin abnormality	0	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic		110
HP:0011276	HP:0011276	Vascular skin abnormality	0	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3		24
HP:0011276	HP:0011276	Vascular skin abnormality	0	SLC39A13 CL E G H	91252	20859	ORPHA:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome		24
HP:0011276	HP:0011276	Vascular skin abnormality	0	SLC39A4 CL E G H	55630	17129	ORPHA:37	Acrodermatitis enteropathica		55
HP:0011276	HP:0011276	Vascular skin abnormality	0	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type		55
HP:0011276	HP:0011276	Vascular skin abnormality	0	SLC51A CL E G H	200931	29955	OMIM:619484	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6; PFIC6
HP:0011276	HP:0011276	Vascular skin abnormality	0	SLFN14 CL E G H	342618	32689	OMIM:616913	Bleeding disorder, platelet-type, 20		6
HP:0011276	HP:0011276	Vascular skin abnormality	0	SLURP1 CL E G H	57152	18746	ORPHA:87503	Mal de Meleda		15
HP:0011276	HP:0011276	Vascular skin abnormality	0	SLURP1 CL E G H	57152	18746	OMIM:248300	Meleda disease		15
HP:0011276	HP:0011276	Vascular skin abnormality	0	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		7
HP:0011276	HP:0011276	Vascular skin abnormality	0	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome		260
HP:0011276	HP:0011276	Vascular skin abnormality	0	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		260
HP:0011276	HP:0011276	Vascular skin abnormality	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0011276	HP:0011276	Vascular skin abnormality	0	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		504
HP:0011276	HP:0011276	Vascular skin abnormality	0	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia		504
HP:0011276	HP:0011276	Vascular skin abnormality	0	SMAD4 CL E G H	4089	6770	OMIM:175050	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome		504
HP:0011276	HP:0011276	Vascular skin abnormality	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome		135
HP:0011276	HP:0011276	Vascular skin abnormality	0	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2		135
HP:0011276	HP:0011276	Vascular skin abnormality	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome		91
HP:0011276	HP:0011276	Vascular skin abnormality	0	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3		91
HP:0011276	HP:0011276	Vascular skin abnormality	0	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis		2
HP:0011276	HP:0011276	Vascular skin abnormality	0	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4		315
HP:0011276	HP:0011276	Vascular skin abnormality	0	SOX18 CL E G H	54345	11194	OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia syndrome		7
HP:0011276	HP:0011276	Vascular skin abnormality	0	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome		7
HP:0011276	HP:0011276	Vascular skin abnormality	0	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome		7
HP:0011276	HP:0011276	Vascular skin abnormality	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome		4
HP:0011276	HP:0011276	Vascular skin abnormality	0	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis
HP:0011276	HP:0011276	Vascular skin abnormality	0	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome		100
HP:0011276	HP:0011276	Vascular skin abnormality	0	SPINK5 CL E G H	11005	15464	ORPHA:634	Netherton syndrome		100
HP:0011276	HP:0011276	Vascular skin abnormality	0	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0011276	HP:0011276	Vascular skin abnormality	0	SREBF1 CL E G H	6720	11289	OMIM:619016	IFAP SYNDROME 2; IFAP2		1
HP:0011276	HP:0011276	Vascular skin abnormality	0	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis		1
HP:0011276	HP:0011276	Vascular skin abnormality	0	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		1
HP:0011276	HP:0011276	Vascular skin abnormality	0	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome		9
HP:0011276	HP:0011276	Vascular skin abnormality	0	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia		110
HP:0011276	HP:0011276	Vascular skin abnormality	0	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome		110
HP:0011276	HP:0011276	Vascular skin abnormality	0	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia		12
HP:0011276	HP:0011276	Vascular skin abnormality	0	STIM1 CL E G H	6786	11386	ORPHA:3204	Stormorken-Sjaastad-Langslet syndrome		31
HP:0011276	HP:0011276	Vascular skin abnormality	0	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0011276	HP:0011276	Vascular skin abnormality	0	STN1 CL E G H	79991	26200	OMIM:617341	Cerebroretinal microangiopathy with calcifications and cysts 2		2
HP:0011276	HP:0011276	Vascular skin abnormality	0	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		85
HP:0011276	HP:0011276	Vascular skin abnormality	0	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome		237
HP:0011276	HP:0011276	Vascular skin abnormality	0	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		70
HP:0011276	HP:0011276	Vascular skin abnormality	0	SULT2B1 CL E G H	6820	11459	OMIM:617571	Ichthyosis, congenital, autosomal recessive 14		4
HP:0011276	HP:0011276	Vascular skin abnormality	0	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0011276	HP:0011276	Vascular skin abnormality	0	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0011276	HP:0011276	Vascular skin abnormality	0	TALDO1 CL E G H	6888	11559	ORPHA:101028	Transaldolase deficiency		34
HP:0011276	HP:0011276	Vascular skin abnormality	0	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency		34
HP:0011276	HP:0011276	Vascular skin abnormality	0	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia		22
HP:0011276	HP:0011276	Vascular skin abnormality	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome		32
HP:0011276	HP:0011276	Vascular skin abnormality	0	TBXA2R CL E G H	6915	11608	OMIM:614009	BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO; BDPLT13		10
HP:0011276	HP:0011276	Vascular skin abnormality	0	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis		241
HP:0011276	HP:0011276	Vascular skin abnormality	0	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis		82
HP:0011276	HP:0011276	Vascular skin abnormality	0	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita		48
HP:0011276	HP:0011276	Vascular skin abnormality	0	TERC CL E G H	7012	11727	ORPHA:88	Idiopathic aplastic anemia		48
HP:0011276	HP:0011276	Vascular skin abnormality	0	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita		238
HP:0011276	HP:0011276	Vascular skin abnormality	0	TERT CL E G H	7015	11730	ORPHA:88	Idiopathic aplastic anemia		238
HP:0011276	HP:0011276	Vascular skin abnormality	0	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis		3
HP:0011276	HP:0011276	Vascular skin abnormality	0	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera		3
HP:0011276	HP:0011276	Vascular skin abnormality	0	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis		3
HP:0011276	HP:0011276	Vascular skin abnormality	0	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		3
HP:0011276	HP:0011276	Vascular skin abnormality	0	TFR2 CL E G H	7036	11762	OMIM:604250	Hemochromatosis, type 3		67
HP:0011276	HP:0011276	Vascular skin abnormality	0	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		162
HP:0011276	HP:0011276	Vascular skin abnormality	0	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4		162
HP:0011276	HP:0011276	Vascular skin abnormality	0	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		85
HP:0011276	HP:0011276	Vascular skin abnormality	0	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0011276	HP:0011276	Vascular skin abnormality	0	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		239
HP:0011276	HP:0011276	Vascular skin abnormality	0	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome		239
HP:0011276	HP:0011276	Vascular skin abnormality	0	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		253
HP:0011276	HP:0011276	Vascular skin abnormality	0	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome		253
HP:0011276	HP:0011276	Vascular skin abnormality	0	TGM1 CL E G H	7051	11777	ORPHA:281127	Acral self-healing collodion baby		98
HP:0011276	HP:0011276	Vascular skin abnormality	0	TGM5 CL E G H	9333	11781	ORPHA:263534	Acral peeling skin syndrome		44
HP:0011276	HP:0011276	Vascular skin abnormality	0	TGM5 CL E G H	9333	11781	OMIM:609796	Peeling skin syndrome, Acral type		44
HP:0011276	HP:0011276	Vascular skin abnormality	0	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita		60
HP:0011276	HP:0011276	Vascular skin abnormality	0	TMC6 CL E G H	11322	18021	ORPHA:302	Epidermodysplasia verruciformis		10
HP:0011276	HP:0011276	Vascular skin abnormality	0	TMC8 CL E G H	147138	20474	ORPHA:302	Epidermodysplasia verruciformis		4
HP:0011276	HP:0011276	Vascular skin abnormality	0	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency		32
HP:0011276	HP:0011276	Vascular skin abnormality	0	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency		12
HP:0011276	HP:0011276	Vascular skin abnormality	0	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome		131
HP:0011276	HP:0011276	Vascular skin abnormality	0	TNFRSF1B CL E G H	7133	11917	ORPHA:2584	Classic mycosis fungoides
HP:0011276	HP:0011276	Vascular skin abnormality	0	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis		44
HP:0011276	HP:0011276	Vascular skin abnormality	0	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency		1
HP:0011276	HP:0011276	Vascular skin abnormality	0	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis
HP:0011276	HP:0011276	Vascular skin abnormality	0	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis		71
HP:0011276	HP:0011276	Vascular skin abnormality	0	TNXB CL E G H	7148	11976	ORPHA:230839	Classical-like Ehlers-Danlos syndrome type 1		134
HP:0011276	HP:0011276	Vascular skin abnormality	0	TNXB CL E G H	7148	11976	OMIM:606408	Ehlers-Danlos syndrome, classic-like		134
HP:0011276	HP:0011276	Vascular skin abnormality	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0011276	HP:0011276	Vascular skin abnormality	0	TRAF3IP2 CL E G H	10758	1343	ORPHA:1334	Chronic mucocutaneous candidiasis		4
HP:0011276	HP:0011276	Vascular skin abnormality	0	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome		56
HP:0011276	HP:0011276	Vascular skin abnormality	0	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1		56
HP:0011276	HP:0011276	Vascular skin abnormality	0	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations		56
HP:0011276	HP:0011276	Vascular skin abnormality	0	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy		56
HP:0011276	HP:0011276	Vascular skin abnormality	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0011276	HP:0011276	Vascular skin abnormality	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0011276	HP:0011276	Vascular skin abnormality	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0011276	HP:0011276	Vascular skin abnormality	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0011276	HP:0011276	Vascular skin abnormality	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0011276	HP:0011276	Vascular skin abnormality	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0011276	HP:0011276	Vascular skin abnormality	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0011276	HP:0011276	Vascular skin abnormality	0	TRPM4 CL E G H	54795	17993	ORPHA:316	Progressive symmetric erythrokeratodermia		124
HP:0011276	HP:0011276	Vascular skin abnormality	0	TRPV3 CL E G H	162514	18084	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques		151
HP:0011276	HP:0011276	Vascular skin abnormality	0	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy		39
HP:0011276	HP:0011276	Vascular skin abnormality	0	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita		1
HP:0011276	HP:0011276	Vascular skin abnormality	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0011276	HP:0011276	Vascular skin abnormality	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0011276	HP:0011276	Vascular skin abnormality	0	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		116
HP:0011276	HP:0011276	Vascular skin abnormality	0	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita		8
HP:0011276	HP:0011276	Vascular skin abnormality	0	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0011276	HP:0011276	Vascular skin abnormality	0	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome		1
HP:0011276	HP:0011276	Vascular skin abnormality	0	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2		2
HP:0011276	HP:0011276	Vascular skin abnormality	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0011276	HP:0011276	Vascular skin abnormality	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0011276	HP:0011276	Vascular skin abnormality	0	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic		7
HP:0011276	HP:0011276	Vascular skin abnormality	0	UVSSA CL E G H	57654	29304	OMIM:614640	Uv-Sensitive syndrome 3		3
HP:0011276	HP:0011276	Vascular skin abnormality	0	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E		26
HP:0011276	HP:0011276	Vascular skin abnormality	0	VWF CL E G H	7450	12726	OMIM:193400	Von willebrand disease, type 1		533
HP:0011276	HP:0011276	Vascular skin abnormality	0	VWF CL E G H	7450	12726	OMIM:613554	Von willebrand disease, type 2		533
HP:0011276	HP:0011276	Vascular skin abnormality	0	VWF CL E G H	7450	12726	OMIM:277480	Von willebrand disease, type 3		533
HP:0011276	HP:0011276	Vascular skin abnormality	0	WAS CL E G H	7454	12731	OMIM:313900	Thrombocytopenia 1		65
HP:0011276	HP:0011276	Vascular skin abnormality	0	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome		65
HP:0011276	HP:0011276	Vascular skin abnormality	0	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0011276	HP:0011276	Vascular skin abnormality	0	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome		6
HP:0011276	HP:0011276	Vascular skin abnormality	0	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia		71
HP:0011276	HP:0011276	Vascular skin abnormality	0	WNT10A CL E G H	80326	13829	ORPHA:50944	Schöpf-Schulz-Passarge syndrome		71
HP:0011276	HP:0011276	Vascular skin abnormality	0	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita		40
HP:0011276	HP:0011276	Vascular skin abnormality	0	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome		310
HP:0011276	HP:0011276	Vascular skin abnormality	0	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum		34
HP:0011276	HP:0011276	Vascular skin abnormality	0	XPA CL E G H	7507	12814	OMIM:278700	Xeroderma pigmentosum, complementation group A		34
HP:0011276	HP:0011276	Vascular skin abnormality	0	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum		86
HP:0011276	HP:0011276	Vascular skin abnormality	0	XPC CL E G H	7508	12816	OMIM:278720	Xeroderma pigmentosum, complementation group C		86
HP:0011276	HP:0011276	Vascular skin abnormality	0	XPNPEP2 CL E G H	7512	12823	OMIM:300909	Acquired angioedema		4
HP:0011276	HP:0011276	Vascular skin abnormality	0	XPNPEP2 CL E G H	7512	12823	ORPHA:100057	Renin-angiotensin-aldosterone system-blocker-induced angioedema		4
HP:0011276	HP:0011276	Vascular skin abnormality	0	XPR1 CL E G H	9213	12827	ORPHA:1980	Bilateral striopallidodentate calcinosis		4
HP:0011276	HP:0011276	Vascular skin abnormality	0	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome		9
HP:0011276	HP:0011276	Vascular skin abnormality	0	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia		1
HP:0011276	HP:0011276	Vascular skin abnormality	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome		83
HP:0011276	HP:0011276	Vascular skin abnormality	0	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy		83
HP:0011276	HP:0011276	Vascular skin abnormality	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal		83
HP:0011276	HP:0011276	Vascular skin abnormality	0	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy		14
HP:0011276	HP:0011276	Vascular skin abnormality	0	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome		397
HP:0011276	HP:0011137	Non-pruritic urticaria	1	CL E G H
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum		415
HP:0011276	HP:0001009	Telangiectasia	1	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum		415
HP:0011276	HP:0000965	Cutis marmorata	1	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS		254
HP:0011276	HP:0000965	Cutis marmorata	1	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome	.	51
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0011276	HP:0033832	Livedo	1	ACTA2 CL E G H	59	130	OMIM:611788	AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6		94
HP:0011276	HP:0000965	Cutis marmorata	1	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040281 - Very frequent	94
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		94
HP:0011276	HP:0001009	Telangiectasia	1	ACTA2 CL E G H	59	130	ORPHA:2573	Moyamoya disease	HP:0040281 - Very frequent	94
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia		178
HP:0011276	HP:0001009	Telangiectasia	1	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia		178
HP:0011276	HP:0001009	Telangiectasia	1	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2		178
HP:0011276	HP:0000965	Cutis marmorata	1	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome	.	22
HP:0011276	HP:0033832	Livedo	1	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome		22
HP:0011276	HP:0000965	Cutis marmorata	1	ADA2 CL E G H	51816	1839	ORPHA:820	Sneddon syndrome	HP:0040281 - Very frequent	22
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0011276	HP:0000965	Cutis marmorata	1	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0011276	HP:0033832	Livedo	1	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0011276	HP:0010783	Erythema	1	ADAM17 CL E G H	6868	195	OMIM:614328	INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1		2
HP:0011276	HP:0010783	Erythema	1	ADAM17 CL E G H	6868	195	ORPHA:294023	Neonatal inflammatory skin and bowel disease	HP:0040282 - Frequent	2
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive		165
HP:0011276	HP:0000965	Cutis marmorata	1	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	116
HP:0011276	HP:0001025	Urticaria	1	ADGRE2 CL E G H	30817	3337	OMIM:125630	Dermodistortive urticaria	.	2
HP:0011276	HP:0010783	Erythema	1	ADGRE2 CL E G H	30817	3337	OMIM:125630	Dermodistortive urticaria		2
HP:0011276	HP:0007394	Prominent superficial blood vessels	1	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0011276	HP:0007394	Prominent superficial blood vessels	1	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0011276	HP:0001014	Angiokeratoma	1	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA		76
HP:0011276	HP:0007394	Prominent superficial blood vessels	1	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy		85
HP:0011276	HP:0000965	Cutis marmorata	1	AGXT CL E G H	189	341	OMIM:259900	Hyperoxaluria, primary, type I	.	260
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic		95
HP:0011276	HP:0010783	Erythema	1	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic		95
HP:0011276	HP:0001009	Telangiectasia	1	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome		54
HP:0011276	HP:0000965	Cutis marmorata	1	AKT3 CL E G H	10000	393	OMIM:615937	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2	.	19
HP:0011276	HP:0007394	Prominent superficial blood vessels	1	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA	.	89
HP:0011276	HP:0001025	Urticaria	1	ALDH3A2 CL E G H	224	403	ORPHA:816	Sjögren-Larsson syndrome	HP:0040283 - Occasional	87
HP:0011276	HP:0010783	Erythema	1	ALDH3A2 CL E G H	224	403	ORPHA:816	Sjögren-Larsson syndrome	HP:0040281 - Very frequent	87
HP:0011276	HP:0010783	Erythema	1	ALOX12B CL E G H	242	430	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2	HP:0040283 - Occasional	75
HP:0011276	HP:0010783	Erythema	1	ALOXE3 CL E G H	59344	13743	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2	HP:0040283 - Occasional	63
HP:0011276	HP:0010783	Erythema	1	ALOXE3 CL E G H	59344	13743	OMIM:606545	Ichthyosis, congenital, autosomal recessive 3	HP:0040283 - Occasional	63
HP:0011276	HP:0001025	Urticaria	1	ALPK1 CL E G H	80216	20917	OMIM:614979	Splenomegaly, cytopenia, and vision loss	.
HP:0011276	HP:0001009	Telangiectasia	1	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1	HP:0040282 - Frequent	2
HP:0011276	HP:0010783	Erythema	1	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1		2
HP:0011276	HP:0100665	Angioedema	1	ANGPT1 CL E G H	284	484	OMIM:619361	ANGIOEDEMA, HEREDITARY, 5; HAE5		5
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	ANKRD26 CL E G H	22852	29186	OMIM:188000	THROMBOCYTOPENIA 2; THC2		106
HP:0011276	HP:0007394	Prominent superficial blood vessels	1	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome		8
HP:0011276	HP:0001009	Telangiectasia	1	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis		49
HP:0011276	HP:0001025	Urticaria	1	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis	HP:0040281 - Very frequent	49
HP:0011276	HP:0010783	Erythema	1	AP1S1 CL E G H	1174	559	OMIM:609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	.	1
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	APOE CL E G H	348	613	ORPHA:158029	Sea-blue histiocytosis		39
HP:0011276	HP:0010783	Erythema	1	AQP5 CL E G H	362	638	ORPHA:2337	Non-epidermolytic palmoplantar keratoderma	HP:0040282 - Frequent	5
HP:0011276	HP:0000965	Cutis marmorata	1	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent	147
HP:0011276	HP:0000965	Cutis marmorata	1	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1	.	147
HP:0011276	HP:0000965	Cutis marmorata	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	ARL6IP6 CL E G H	151188	24048	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040281 - Very frequent	1
HP:0011276	HP:0001009	Telangiectasia	1	ARL6IP6 CL E G H	151188	24048	ORPHA:1556	Cutis marmorata telangiectatica congenita		1
HP:0011276	HP:0000965	Cutis marmorata	1	ARL6IP6 CL E G H	151188	24048	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040281 - Very frequent	1
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		7
HP:0011276	HP:0200029	Vasculitis in the skin	1	ARPC1B CL E G H	10095	704	OMIM:617718	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
HP:0011276	HP:0001009	Telangiectasia	1	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome		1
HP:0011276	HP:0001009	Telangiectasia	1	ARX CL E G H	170302	18060	ORPHA:94083	Partington syndrome		166
HP:0011276	HP:0001025	Urticaria	1	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	145
HP:0011276	HP:0001025	Urticaria	1	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	145
HP:0011276	HP:0001009	Telangiectasia	1	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia		3267
HP:0011276	HP:0001009	Telangiectasia	1	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0011276	HP:0010783	Erythema	1	ATP2C1 CL E G H	27032	13211	OMIM:169600	Benign chronic pemphigus	.	56
HP:0011276	HP:0010783	Erythema	1	ATP2C1 CL E G H	27032	13211	ORPHA:2841	Familial benign chronic pemphigus	HP:0040281 - Very frequent	56
HP:0011276	HP:0001009	Telangiectasia	1	ATP6 CL E G H	4508	7414	ORPHA:104	Leber hereditary optic neuropathy
HP:0011276	HP:0007394	Prominent superficial blood vessels	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		140
HP:0011276	HP:0007394	Prominent superficial blood vessels	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome		140
HP:0011276	HP:0007394	Prominent superficial blood vessels	1	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		3
HP:0011276	HP:0007394	Prominent superficial blood vessels	1	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		2
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease		192
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome		192
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome		192
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease		315
HP:0011276	HP:0033832	Livedo	1	ATR CL E G H	545	882	OMIM:614564	Cutaneous telangiectasia and cancer syndrome, familial		168
HP:0011276	HP:0001009	Telangiectasia	1	ATR CL E G H	545	882	OMIM:614564	Cutaneous telangiectasia and cancer syndrome, familial	.	168
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	ATRX CL E G H	546	886	ORPHA:231401	Alpha-thalassemia-myelodysplastic syndrome		169
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0011276	HP:0001009	Telangiectasia	1	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach		169
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome		38
HP:0011276	HP:0007394	Prominent superficial blood vessels	1	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome		22
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia		101
HP:0011276	HP:0001009	Telangiectasia	1	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040283 - Occasional	314
HP:0011276	HP:0001009	Telangiectasia	1	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome		314
HP:0011276	HP:0010783	Erythema	1	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome		314
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	BLOC1S3 CL E G H	388552	20914	OMIM:614077	Hermansky-Pudlak syndrome 8		42
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	BLOC1S5 CL E G H	63915	18561	OMIM:619172	HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0011276	HP:0001009	Telangiectasia	1	BMP2 CL E G H	650	1069	OMIM:235200	Hemochromatosis, type 1	.	13
HP:0011276	HP:0001009	Telangiectasia	1	BMPR2 CL E G H	659	1078	OMIM:178600	Pulmonary hypertension, primary, 1	.	525
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1		276
HP:0011276	HP:0000965	Cutis marmorata	1	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent
HP:0011276	HP:0007394	Prominent superficial blood vessels	1	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy		105
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1		15
HP:0011276	HP:0007394	Prominent superficial blood vessels	1	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1		15
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	C1S CL E G H	716	1247	OMIM:617174	Ehlers-Danlos syndrome, periodontal type, 2		7
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	C2 CL E G H	717	1248	OMIM:217000	Complement component 2 deficiency		23
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	C4A CL E G H	720	1323	OMIM:614380	Complement component 4A deficiency		1
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	CALR CL E G H	811	1455	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included		1
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis		1
HP:0011276	HP:0001025	Urticaria	1	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0011276	HP:0001025	Urticaria	1	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	87
HP:0011276	HP:0001025	Urticaria	1	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA	.	87
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0011276	HP:0001009	Telangiectasia	1	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	3
HP:0011276	HP:0007394	Prominent superficial blood vessels	1	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy		11
HP:0011276	HP:0001009	Telangiectasia	1	CAV1 CL E G H	857	1527	ORPHA:220393	Diffuse cutaneous systemic sclerosis		11
HP:0011276	HP:0001009	Telangiectasia	1	CAV1 CL E G H	857	1527	ORPHA:220402	Limited cutaneous systemic sclerosis		11
HP:0011276	HP:0000965	Cutis marmorata	1	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0011276	HP:0007394	Prominent superficial blood vessels	1	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy		48
HP:0011276	HP:0001025	Urticaria	1	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	317
HP:0011276	HP:0001025	Urticaria	1	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria	HP:0040283 - Occasional	242
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria	HP:0040283 - Occasional	242
HP:0011276	HP:0000965	Cutis marmorata	1	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency	.	242
HP:0011276	HP:0001009	Telangiectasia	1	CCM2 CL E G H	83605	21708	OMIM:603284	Cerebral cavernous malformations-2	.	37
HP:0011276	HP:0001009	Telangiectasia	1	CCN2 CL E G H	1490	2500	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0011276	HP:0001009	Telangiectasia	1	CCN2 CL E G H	1490	2500	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0011276	HP:0001009	Telangiectasia	1	CCR6 CL E G H	1235	1607	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0011276	HP:0001009	Telangiectasia	1	CCR6 CL E G H	1235	1607	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	CD109 CL E G H	135228	21685	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency		38
HP:0011276	HP:0010783	Erythema	1	CD28 CL E G H	940	1653	ORPHA:2584	Classic mycosis fungoides	HP:0040281 - Very frequent
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency		1
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	CD81 CL E G H	975	1701	OMIM:613496	Immunodeficiency, common variable, 6		1
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0011276	HP:0010783	Erythema	1	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4	HP:0040283 - Occasional	102
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	CFH CL E G H	3075	4883	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1		86
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	CFHR1 CL E G H	3078	4888	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	CFHR3 CL E G H	10878	16980	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1		27
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent	27
HP:0011276	HP:0001009	Telangiectasia	1	CIB1 CL E G H	10519	16920	ORPHA:302	Epidermodysplasia verruciformis
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis		102
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	CLCN7 CL E G H	1186	2025	OMIM:611490	Osteopetrosis, autosomal recessive 4		102
HP:0011276	HP:0010783	Erythema	1	CLEC7A CL E G H	64581	14558	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040281 - Very frequent	3
HP:0011276	HP:0007394	Prominent superficial blood vessels	1	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome		67
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	COG8 CL E G H	84342	18623	ORPHA:95428	COG8-CDG		39
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome		373
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	COL1A1 CL E G H	1277	2197	OMIM:619115	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1		373
HP:0011276	HP:0010783	Erythema	1	COL1A1 CL E G H	1277	2197	ORPHA:31112	Dermatofibrosarcoma protuberans	HP:0040281 - Very frequent	373
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1		373
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	COL1A1 CL E G H	1277	2197	OMIM:166200	Osteogenesis imperfecta, type I		373
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome		243
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	COL1A2 CL E G H	1278	2198	OMIM:619120	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2; OIEDS2		243
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	COL1A2 CL E G H	1278	2198	OMIM:617821	Ehlers-Danlos syndrome, arthrochalasia type, 2		243
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	COL1A2 CL E G H	1278	2198	OMIM:225320	Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form		243
HP:0011276	HP:0001009	Telangiectasia	1	COL3A1 CL E G H	1281	2201	ORPHA:2500	Acrogeria		749
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome		749
HP:0011276	HP:0001009	Telangiectasia	1	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome		749
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome		749
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome		660
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I		660
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome		325
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	COL5A2 CL E G H	1290	2210	OMIM:130010	Ehlers-Danlos syndrome, classic type, 2		325
HP:0011276	HP:0001009	Telangiectasia	1	COL7A1 CL E G H	1294	2214	ORPHA:158673	Localized dystrophic epidermolysis bullosa, acral form	HP:0040282 - Frequent	263
HP:0011276	HP:0010783	Erythema	1	COL7A1 CL E G H	1294	2214	ORPHA:158673	Localized dystrophic epidermolysis bullosa, acral form	HP:0040282 - Frequent	263
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome		6
HP:0011276	HP:0001009	Telangiectasia	1	COX1 CL E G H	4512	7419	ORPHA:104	Leber hereditary optic neuropathy
HP:0011276	HP:0010783	Erythema	1	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0011276	HP:0010783	Erythema	1	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0011276	HP:0001009	Telangiectasia	1	COX3 CL E G H	4514	7422	ORPHA:104	Leber hereditary optic neuropathy
HP:0011276	HP:0010783	Erythema	1	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0011276	HP:0010783	Erythema	1	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040281 - Very frequent	6
HP:0011276	HP:0100665	Angioedema	1	CPN1 CL E G H	1369	2312	OMIM:212070	Carboxypeptidase N deficiency	.	2
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency		10
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	CREB3L1 CL E G H	90993	18856	OMIM:616229	Osteogenesis imperfecta, type XVI		4
HP:0011276	HP:0010783	Erythema	1	CSTA CL E G H	1475	2481	ORPHA:263534	Acral peeling skin syndrome	HP:0040282 - Frequent	4
HP:0011276	HP:0001009	Telangiectasia	1	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts		160
HP:0011276	HP:0001009	Telangiectasia	1	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita		160
HP:0011276	HP:0010783	Erythema	1	CTLA4 CL E G H	1493	2505	ORPHA:2584	Classic mycosis fungoides	HP:0040281 - Very frequent	10
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis		10
HP:0011276	HP:0001009	Telangiectasia	1	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy		88
HP:0011276	HP:0001009	Telangiectasia	1	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis		51
HP:0011276	HP:0010783	Erythema	1	CTSB CL E G H	1508	2527	ORPHA:50943	Keratolytic winter erythema	HP:0040281 - Very frequent	1
HP:0011276	HP:0010783	Erythema	1	CTSB CL E G H	1508	2527	OMIM:148370	Keratolytic winter erythema	.	1
HP:0011276	HP:0001009	Telangiectasia	1	CYLD CL E G H	1540	2584	ORPHA:211	Familial cylindromatosis		126
HP:0011276	HP:0001009	Telangiectasia	1	CYLD CL E G H	1540	2584	ORPHA:867	Familial multiple trichoepithelioma		126
HP:0011276	HP:0001009	Telangiectasia	1	CYTB CL E G H	4519	7427	ORPHA:104	Leber hereditary optic neuropathy
HP:0011276	HP:0001009	Telangiectasia	1	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach
HP:0011276	HP:0010783	Erythema	1	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	30
HP:0011276	HP:0001009	Telangiectasia	1	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	30
HP:0011276	HP:0001009	Telangiectasia	1	DDB2 CL E G H	1643	2718	OMIM:278740	Xeroderma pigmentosum, complementation group E	.	30
HP:0011276	HP:0010783	Erythema	1	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN		45
HP:0011276	HP:0000965	Cutis marmorata	1	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome	.	13
HP:0011276	HP:0000965	Cutis marmorata	1	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040282 - Frequent	159
HP:0011276	HP:0001009	Telangiectasia	1	DIAPH1 CL E G H	1729	2876	ORPHA:2573	Moyamoya disease	HP:0040281 - Very frequent	118
HP:0011276	HP:0001009	Telangiectasia	1	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita		65
HP:0011276	HP:0000965	Cutis marmorata	1	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent	9
HP:0011276	HP:0000965	Cutis marmorata	1	DLL4 CL E G H	54567	2910	OMIM:616589	Adams-Oliver syndrome 6	HP:0040283 - Occasional	9
HP:0011276	HP:0001009	Telangiectasia	1	DNAJC30 CL E G H	84277	16410	ORPHA:104	Leber hereditary optic neuropathy
HP:0011276	HP:0001009	Telangiectasia	1	DNAJC30 CL E G H	84277	16410	OMIM:619382	LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR
HP:0011276	HP:0100665	Angioedema	1	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis	HP:0040282 - Frequent	3
HP:0011276	HP:0000965	Cutis marmorata	1	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent	18
HP:0011276	HP:0000965	Cutis marmorata	1	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2	.	18
HP:0011276	HP:0001009	Telangiectasia	1	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE	.	27
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent	13
HP:0011276	HP:0010783	Erythema	1	DSG4 CL E G H	147409	21307	OMIM:607903	Hypotrichosis 6	.	63
HP:0011276	HP:0010783	Erythema	1	DSP CL E G H	1832	3052	OMIM:615821	Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis	.	747
HP:0011276	HP:0010783	Erythema	1	DSP CL E G H	1832	3052	OMIM:607655	Skin fragility-woolly hair syndrome		747
HP:0011276	HP:0010783	Erythema	1	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI		108
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	DTNBP1 CL E G H	84062	17328	OMIM:614076	Hermansky-Pudlak syndrome 7		46
HP:0011276	HP:0010783	Erythema	1	EGFR CL E G H	1956	3236	ORPHA:294023	Neonatal inflammatory skin and bowel disease	HP:0040282 - Frequent	257
HP:0011276	HP:0001009	Telangiectasia	1	ELMO2 CL E G H	63916	17233	ORPHA:3019	Ramon syndrome		3
HP:0011276	HP:0000965	Cutis marmorata	1	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040281 - Very frequent	172
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		172
HP:0011276	HP:0010783	Erythema	1	ELOVL4 CL E G H	6785	14415	OMIM:614457	Ichthyosis, spastic quadriplegia, and mental retardation	.	62
HP:0011276	HP:0001025	Urticaria	1	ELOVL4 CL E G H	6785	14415	ORPHA:1955	Spinocerebellar ataxia type 34	HP:0040281 - Very frequent	62
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	EMILIN1 CL E G H	11117	19880	OMIM:620080			2
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia		186
HP:0011276	HP:0001009	Telangiectasia	1	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia		186
HP:0011276	HP:0001009	Telangiectasia	1	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1		186
HP:0011276	HP:0001009	Telangiectasia	1	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum		151
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum		151
HP:0011276	HP:0000965	Cutis marmorata	1	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent	4
HP:0011276	HP:0000965	Cutis marmorata	1	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4	HP:0040283 - Occasional	4
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	EPHB2 CL E G H	2048	3393	OMIM:618462	Bleeding disorder, platelet-type, 22		7
HP:0011276	HP:0001009	Telangiectasia	1	EPHB4 CL E G H	2050	3395	ORPHA:137667	Capillary malformation-arteriovenous malformation	HP:0040283 - Occasional	3
HP:0011276	HP:0001009	Telangiectasia	1	EPHB4 CL E G H	2050	3395	OMIM:618196	Capillary malformation-arteriovenous malformation 2	.	3
HP:0011276	HP:0001009	Telangiectasia	1	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive	.	106
HP:0011276	HP:0001009	Telangiectasia	1	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	106
HP:0011276	HP:0010783	Erythema	1	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	106
HP:0011276	HP:0001009	Telangiectasia	1	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D	.	106
HP:0011276	HP:0001025	Urticaria	1	ERCC2 CL E G H	2068	3434	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent	106
HP:0011276	HP:0010783	Erythema	1	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	54
HP:0011276	HP:0001009	Telangiectasia	1	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	54
HP:0011276	HP:0001025	Urticaria	1	ERCC3 CL E G H	2071	3435	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent	54
HP:0011276	HP:0001009	Telangiectasia	1	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	158
HP:0011276	HP:0010783	Erythema	1	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	158
HP:0011276	HP:0010783	Erythema	1	ERCC4 CL E G H	2072	3436	OMIM:278760	Xeroderma pigmentosum, complementation group F		158
HP:0011276	HP:0001025	Urticaria	1	ERCC4 CL E G H	2072	3436	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent	158
HP:0011276	HP:0001009	Telangiectasia	1	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	83
HP:0011276	HP:0010783	Erythema	1	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	83
HP:0011276	HP:0001025	Urticaria	1	ERCC5 CL E G H	2073	3437	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent	83
HP:0011276	HP:0001009	Telangiectasia	1	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome	.	199
HP:0011276	HP:0001009	Telangiectasia	1	ERCC6 CL E G H	2074	3438	OMIM:600630	Uv-Sensitive syndrome 1	.	199
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic		42
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	ETHE1 CL E G H	23474	23287	ORPHA:51188	Ethylmalonic encephalopathy		42
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	ETV6 CL E G H	2120	3495	OMIM:616216	Thrombocytopenia 5		13
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	F10 CL E G H	2159	3528	ORPHA:328	Congenital factor X deficiency		33
HP:0011276	HP:0100665	Angioedema	1	F12 CL E G H	2161	3530	OMIM:610618	ANGIOEDEMA, HEREDITARY, TYPE III; HAE3		28
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	F13A1 CL E G H	2162	3531	ORPHA:331	Congenital factor XIII deficiency	HP:0040282 - Frequent	60
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	F13A1 CL E G H	2162	3531	OMIM:613225	Factor XIII, A subunit, deficiency of		60
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	F13B CL E G H	2165	3534	ORPHA:331	Congenital factor XIII deficiency	HP:0040282 - Frequent	32
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	F13B CL E G H	2165	3534	OMIM:613235	Factor XIIIB deficiency		32
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	F2 CL E G H	2147	3535	OMIM:613679	Congenital prothrombin deficiency		44
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	F5 CL E G H	2153	3542	ORPHA:326	Congenital factor V deficiency		159
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	F5 CL E G H	2153	3542	OMIM:227400	Factor V deficiency		159
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	F7 CL E G H	2155	3544	ORPHA:327	Congenital factor VII deficiency		70
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	F8 CL E G H	2157	3546	ORPHA:177926	Bleeding disorder in hemophilia A carriers without FVIII deficiency		303
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	F8 CL E G H	2157	3546	OMIM:306700	Hemophilia A		303
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	F8 CL E G H	2157	3546	ORPHA:169805	Moderate hemophilia A	HP:0040282 - Frequent	303
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	F8 CL E G H	2157	3546	ORPHA:169802	Severe hemophilia A		303
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia		340
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C		410
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E		73
HP:0011276	HP:0001025	Urticaria	1	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	59
HP:0011276	HP:0001025	Urticaria	1	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	59
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0011276	HP:0001025	Urticaria	1	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	37
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0011276	HP:0001025	Urticaria	1	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	37
HP:0011276	HP:0000965	Cutis marmorata	1	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040281 - Very frequent	1361
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		1361
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	FCGR2C CL E G H	9103	15626	ORPHA:3002	Immune thrombocytopenia
HP:0011276	HP:0010783	Erythema	1	FECH CL E G H	2235	3647	ORPHA:79278	Autosomal erythropoietic protoporphyria	HP:0040281 - Very frequent	145
HP:0011276	HP:0010783	Erythema	1	FECH CL E G H	2235	3647	OMIM:177000	Protoporphyria, erythropoietic, 1	.	145
HP:0011276	HP:0010783	Erythema	1	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa	HP:0040281 - Very frequent	136
HP:0011276	HP:0001009	Telangiectasia	1	FERMT1 CL E G H	55612	15889	OMIM:173650	Kindler syndrome		136
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	FERMT3 CL E G H	83706	23151	OMIM:612840	Leukocyte adhesion deficiency, type III		23
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	FGA CL E G H	2243	3661	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		47
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	FGB CL E G H	2244	3662	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		62
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	FGG CL E G H	2266	3694	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		34
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia		4
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2		13
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	FKBP14 CL E G H	55033	18625	ORPHA:300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency		13
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	FLNA CL E G H	2316	3754	ORPHA:75497	X-linked Ehlers-Danlos syndrome		493
HP:0011276	HP:0007394	Prominent superficial blood vessels	1	FLT4 CL E G H	2324	3767	OMIM:153100	Lymphatic malformation 1		90
HP:0011276	HP:0007394	Prominent superficial blood vessels	1	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		23
HP:0011276	HP:0000965	Cutis marmorata	1	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040281 - Very frequent	23
HP:0011276	HP:0001025	Urticaria	1	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	HP:0040283 - Occasional	32
HP:0011276	HP:0001009	Telangiectasia	1	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1		1
HP:0011276	HP:0000965	Cutis marmorata	1	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath	.	70
HP:0011276	HP:0001014	Angiokeratoma	1	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS	.	43
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	FYB1 CL E G H	2533	4036	OMIM:273900	THROMBOCYTOPENIA 3; THC3		4
HP:0011276	HP:0001009	Telangiectasia	1	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy		109
HP:0011276	HP:0007394	Prominent superficial blood vessels	1	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0011276	HP:0001009	Telangiectasia	1	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	10
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	GATA1 CL E G H	2623	4170	OMIM:314050	Thrombocytopenia with beta-thalassemia, X-linked		29
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	GATA1 CL E G H	2623	4170	OMIM:300367	Thrombocytopenia, X-linked, with or without dyserythropoietic anemia		29
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome		137
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia		8
HP:0011276	HP:0001009	Telangiectasia	1	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia		8
HP:0011276	HP:0001009	Telangiectasia	1	GDF2 CL E G H	2658	4217	OMIM:615506	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5; HHT5		8
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	GFI1B CL E G H	8328	4238	OMIM:187900	Bleeding disorder, platelet-type, 17		3
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	GGCX CL E G H	2677	4247	OMIM:277450	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1		129
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	GIMAP5 CL E G H	55340	18005	OMIM:619463	PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0011276	HP:0010783	Erythema	1	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia		68
HP:0011276	HP:0010783	Erythema	1	GJA1 CL E G H	2697	4274	ORPHA:317	Erythrokeratodermia variabilis	HP:0040281 - Very frequent	68
HP:0011276	HP:0010783	Erythema	1	GJA1 CL E G H	2697	4274	OMIM:617525	Erythrokeratodermia variabilis et progressiva 3	.	68
HP:0011276	HP:0010783	Erythema	1	GJA1 CL E G H	2697	4274	OMIM:104100	Palmoplantar keratoderma with congenital alopecia		68
HP:0011276	HP:0010783	Erythema	1	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0011276	HP:0010783	Erythema	1	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0011276	HP:0010783	Erythema	1	GJB3 CL E G H	2707	4285	ORPHA:317	Erythrokeratodermia variabilis	HP:0040281 - Very frequent	74
HP:0011276	HP:0010783	Erythema	1	GJB4 CL E G H	127534	4286	ORPHA:317	Erythrokeratodermia variabilis	HP:0040281 - Very frequent	12
HP:0011276	HP:0010783	Erythema	1	GJB4 CL E G H	127534	4286	OMIM:617524	Erythrokeratodermia variabilis et progressiva 2	.	12
HP:0011276	HP:0001014	Angiokeratoma	1	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease	.	291
HP:0011276	HP:0001009	Telangiectasia	1	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease		291
HP:0011276	HP:0001014	Angiokeratoma	1	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040281 - Very frequent	291
HP:0011276	HP:0001014	Angiokeratoma	1	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I		120
HP:0011276	HP:0010783	Erythema	1	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL		98
HP:0011276	HP:0000965	Cutis marmorata	1	GNA11 CL E G H	2767	4379	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040281 - Very frequent	16
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	GNA11 CL E G H	2767	4379	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040281 - Very frequent	16
HP:0011276	HP:0001009	Telangiectasia	1	GNA11 CL E G H	2767	4379	ORPHA:1556	Cutis marmorata telangiectatica congenita		16
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	GNA14 CL E G H	9630	4382	ORPHA:1063	Tufted angioma
HP:0011276	HP:0001009	Telangiectasia	1	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome		7
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia		101
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		101
HP:0011276	HP:0001025	Urticaria	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011276	HP:0010783	Erythema	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011276	HP:0001009	Telangiectasia	1	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II		240
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	GP1BA CL E G H	2811	4439	ORPHA:274	Bernard-Soulier syndrome		23
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	GP1BA CL E G H	2811	4439	OMIM:153670	Bernard-Soulier syndrome, type A2, autosomal dominant		23
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	GP1BA CL E G H	2811	4439	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		23
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	GP1BA CL E G H	2811	4439	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia		23
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome		8
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	GP1BB CL E G H	2812	4440	ORPHA:274	Bernard-Soulier syndrome		8
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	GP1BB CL E G H	2812	4440	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		8
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	GP1BB CL E G H	2812	4440	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia		8
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	GP6 CL E G H	51206	14388	OMIM:614201	Bleeding disorder, platelet-type, 11		24
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	GP9 CL E G H	2815	4444	ORPHA:274	Bernard-Soulier syndrome		21
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	GP9 CL E G H	2815	4444	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		21
HP:0011276	HP:0001009	Telangiectasia	1	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis		2
HP:0011276	HP:0007394	Prominent superficial blood vessels	1	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis		2
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis		53
HP:0011276	HP:0000965	Cutis marmorata	1	GUCY1A1 CL E G H	2982	4685	OMIM:615750	Moyamoya disease 6 with achalasia	HP:0040283 - Occasional
HP:0011276	HP:0000965	Cutis marmorata	1	GUCY1A1 CL E G H	2982	4685	ORPHA:401945	Moyamoya disease with early-onset achalasia	HP:0040283 - Occasional
HP:0011276	HP:0000965	Cutis marmorata	1	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16		200
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16		88
HP:0011276	HP:0010783	Erythema	1	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040281 - Very frequent	11
HP:0011276	HP:0000965	Cutis marmorata	1	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	37
HP:0011276	HP:0000965	Cutis marmorata	1	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5		37
HP:0011276	HP:0000965	Cutis marmorata	1	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0011276	HP:0000965	Cutis marmorata	1	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040281 - Very frequent
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection
HP:0011276	HP:0001009	Telangiectasia	1	HFE CL E G H	3077	4886	OMIM:235200	Hemochromatosis, type 1	.	38
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome		3
HP:0011276	HP:0010783	Erythema	1	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome	HP:0040281 - Very frequent	4
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis		1
HP:0011276	HP:0010783	Erythema	1	HLA-DQB1 CL E G H	3119	4944	ORPHA:703	Bullous pemphigoid	HP:0040281 - Very frequent
HP:0011276	HP:0001025	Urticaria	1	HLA-DQB1 CL E G H	3119	4944	ORPHA:703	Bullous pemphigoid	HP:0040281 - Very frequent
HP:0011276	HP:0001025	Urticaria	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:703	Bullous pemphigoid	HP:0040281 - Very frequent	2
HP:0011276	HP:0010783	Erythema	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:703	Bullous pemphigoid	HP:0040281 - Very frequent	2
HP:0011276	HP:0001009	Telangiectasia	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:220393	Diffuse cutaneous systemic sclerosis		2
HP:0011276	HP:0001009	Telangiectasia	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:220402	Limited cutaneous systemic sclerosis		2
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	HOXA11 CL E G H	3207	5101	OMIM:605432	Radioulnar synostosis with amegakaryocytic thrombocytopenia		3
HP:0011276	HP:0010783	Erythema	1	HPGD CL E G H	3248	5154	OMIM:259100	Hypertrophic osteoarthropathy, primary, autosomal recessive 1	.	55
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1		121
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	HPS3 CL E G H	84343	15597	OMIM:614072	Hermansky-Pudlak syndrome 3		67
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	HPS4 CL E G H	89781	15844	OMIM:614073	Hermansky-Pudlak syndrome 4		123
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	HPS5 CL E G H	11234	17022	OMIM:614074	Hermansky-Pudlak syndrome 5		105
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6		45
HP:0011276	HP:0100665	Angioedema	1	HS3ST6 CL E G H	64711	14178	OMIM:619367	ANGIOEDEMA, HEREDITARY, 8; HAE8
HP:0011276	HP:0001009	Telangiectasia	1	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	345
HP:0011276	HP:0001009	Telangiectasia	1	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia		25
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency		32
HP:0011276	HP:0000965	Cutis marmorata	1	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	28
HP:0011276	HP:0001025	Urticaria	1	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7		28
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	IFNG CL E G H	3458	5438	ORPHA:88	Idiopathic aplastic anemia		23
HP:0011276	HP:0010783	Erythema	1	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040281 - Very frequent	52
HP:0011276	HP:0010783	Erythema	1	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti	.	52
HP:0011276	HP:0001009	Telangiectasia	1	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti		52
HP:0011276	HP:0010783	Erythema	1	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome	HP:0040281 - Very frequent	8
HP:0011276	HP:0001025	Urticaria	1	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis
HP:0011276	HP:0200029	Vasculitis in the skin	1	IL12RB1 CL E G H	3594	5971	ORPHA:319552	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	HP:0040284 - Very rare	46
HP:0011276	HP:0001025	Urticaria	1	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis		46
HP:0011276	HP:0010783	Erythema	1	IL17F CL E G H	112744	16404	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040281 - Very frequent	14
HP:0011276	HP:0010783	Erythema	1	IL17RA CL E G H	23765	5985	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040281 - Very frequent	196
HP:0011276	HP:0010783	Erythema	1	IL17RC CL E G H	84818	18358	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040281 - Very frequent	4
HP:0011276	HP:0010783	Erythema	1	IL36RN CL E G H	26525	15561	OMIM:614204	PSORIASIS 14, PUSTULAR; PSORS14		51
HP:0011276	HP:0001009	Telangiectasia	1	IL7 CL E G H	3574	6023	ORPHA:302	Epidermodysplasia verruciformis
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0011276	HP:0007394	Prominent superficial blood vessels	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia		4
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency		4
HP:0011276	HP:0001009	Telangiectasia	1	IRF5 CL E G H	3663	6120	ORPHA:220393	Diffuse cutaneous systemic sclerosis		4
HP:0011276	HP:0001009	Telangiectasia	1	IRF5 CL E G H	3663	6120	ORPHA:220402	Limited cutaneous systemic sclerosis		4
HP:0011276	HP:0001025	Urticaria	1	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis		4
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	ITGA2 CL E G H	3673	6137	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia		119
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	ITGA2B CL E G H	3674	6138	OMIM:187800	Bleeding disorder, platelet-type, 16		69
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	ITGA2B CL E G H	3674	6138	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia		69
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	ITGA2B CL E G H	3674	6138	ORPHA:849	Glanzmann thrombasthenia		69
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	ITGA2B CL E G H	3674	6138	OMIM:273800	Glanzmann thrombasthenia		69
HP:0011276	HP:0010783	Erythema	1	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital	.	6
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	ITGB3 CL E G H	3690	6156	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia		80
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	ITGB3 CL E G H	3690	6156	ORPHA:849	Glanzmann thrombasthenia		80
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	ITGB3 CL E G H	3690	6156	OMIM:619267	GLANZMANN THROMBASTHENIA 2; GT2		80
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	JAK2 CL E G H	3717	6192	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included		57
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera		57
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis		57
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	JAM2 CL E G H	58494	14686	ORPHA:1980	Bilateral striopallidodentate calcinosis	HP:0040281 - Very frequent
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome		2
HP:0011276	HP:0001009	Telangiectasia	1	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	1
HP:0011276	HP:0010783	Erythema	1	KCNQ2 CL E G H	3785	6296	ORPHA:439218	KCNQ2-related epileptic encephalopathy		528
HP:0011276	HP:0010783	Erythema	1	KDSR CL E G H	2531	4021	ORPHA:317	Erythrokeratodermia variabilis	HP:0040281 - Very frequent	4
HP:0011276	HP:0010783	Erythema	1	KDSR CL E G H	2531	4021	OMIM:617526	Erythrokeratodermia variabilis et progressiva 4	.	4
HP:0011276	HP:0010783	Erythema	1	KDSR CL E G H	2531	4021	ORPHA:316	Progressive symmetric erythrokeratodermia	HP:0040281 - Very frequent	4
HP:0011276	HP:0001009	Telangiectasia	1	KIAA0319L CL E G H	79932	30071	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0011276	HP:0001025	Urticaria	1	KIT CL E G H	3815	6342	ORPHA:280785	Bullous diffuse cutaneous mastocytosis	HP:0040281 - Very frequent	327
HP:0011276	HP:0001025	Urticaria	1	KIT CL E G H	3815	6342	ORPHA:79455	Cutaneous mastocytoma	HP:0040281 - Very frequent	327
HP:0011276	HP:0100665	Angioedema	1	KIT CL E G H	3815	6342	ORPHA:79455	Cutaneous mastocytoma		327
HP:0011276	HP:0010783	Erythema	1	KIT CL E G H	3815	6342	ORPHA:79455	Cutaneous mastocytoma		327
HP:0011276	HP:0001009	Telangiectasia	1	KIT CL E G H	3815	6342	ORPHA:79455	Cutaneous mastocytoma		327
HP:0011276	HP:0001025	Urticaria	1	KIT CL E G H	3815	6342	OMIM:606764	Gastrointestinal stromal tumor	.	327
HP:0011276	HP:0001025	Urticaria	1	KIT CL E G H	3815	6342	OMIM:154800	Mastocytosis, cutaneous	.	327
HP:0011276	HP:0010783	Erythema	1	KIT CL E G H	3815	6342	OMIM:154800	Mastocytosis, cutaneous	.	327
HP:0011276	HP:0001009	Telangiectasia	1	KIT CL E G H	3815	6342	OMIM:154800	Mastocytosis, cutaneous		327
HP:0011276	HP:0001025	Urticaria	1	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	327
HP:0011276	HP:0001009	Telangiectasia	1	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome		1
HP:0011276	HP:0100665	Angioedema	1	KNG1 CL E G H	3827	6383	OMIM:619363	ANGIOEDEMA, HEREDITARY, 6; HAE6		7
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3		196
HP:0011276	HP:0010783	Erythema	1	KRT1 CL E G H	3848	6412	ORPHA:530838	KRT1-related diffuse nonepidermolytic keratoderma	HP:0040282 - Frequent	100
HP:0011276	HP:0010783	Erythema	1	KRT10 CL E G H	3858	6413	OMIM:607602	Ichthyosis, cyclic, with epidermolytic hyperkeratosis	.	45
HP:0011276	HP:0010783	Erythema	1	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040281 - Very frequent	110
HP:0011276	HP:0010783	Erythema	1	KRT2 CL E G H	3849	6439	ORPHA:455	Superficial epidermolytic ichthyosis	HP:0040283 - Occasional	67
HP:0011276	HP:0010783	Erythema	1	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040281 - Very frequent	173
HP:0011276	HP:0010783	Erythema	1	KRT5 CL E G H	3852	6442	ORPHA:158681	Epidermolysis bullosa simplex with circinate migratory erythema		173
HP:0011276	HP:0010783	Erythema	1	KRT5 CL E G H	3852	6442	OMIM:609352	EPIDERMOLYSIS BULLOSA SIMPLEX WITH MIGRATORY CIRCINATE ERYTHEMA		173
HP:0011276	HP:0010783	Erythema	1	KRT83 CL E G H	3889	6460	ORPHA:316	Progressive symmetric erythrokeratodermia	HP:0040281 - Very frequent	65
HP:0011276	HP:0000965	Cutis marmorata	1	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome	HP:0040282 - Frequent	16
HP:0011276	HP:0001009	Telangiectasia	1	LBR CL E G H	3930	6518	OMIM:613471	Reynolds syndrome		70
HP:0011276	HP:0001009	Telangiectasia	1	LBR CL E G H	3930	6518	ORPHA:779	Reynolds syndrome		70
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0011276	HP:0007394	Prominent superficial blood vessels	1	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS		1
HP:0011276	HP:0001009	Telangiectasia	1	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0011276	HP:0000965	Cutis marmorata	1	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional	88
HP:0011276	HP:0001009	Telangiectasia	1	LIG4 CL E G H	3981	6601	OMIM:606593	Lig4 syndrome	HP:0040284 - Very rare	88
HP:0011276	HP:0001009	Telangiectasia	1	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome		88
HP:0011276	HP:0010783	Erythema	1	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome	HP:0040282 - Frequent	88
HP:0011276	HP:0010783	Erythema	1	LIPN CL E G H	643418	23452	OMIM:613943	Ichthyosis, congenital, autosomal recessive 8	.	1
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	LMAN1 CL E G H	3998	6631	ORPHA:35909	Combined deficiency of factor V and factor VIII		56
HP:0011276	HP:0007394	Prominent superficial blood vessels	1	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome		645
HP:0011276	HP:0001009	Telangiectasia	1	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome		645
HP:0011276	HP:0007394	Prominent superficial blood vessels	1	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040281 - Very frequent	645
HP:0011276	HP:0007394	Prominent superficial blood vessels	1	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2		645
HP:0011276	HP:0001009	Telangiectasia	1	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040283 - Occasional	165
HP:0011276	HP:0010783	Erythema	1	LORICRIN CL E G H	4014	6663	ORPHA:316	Progressive symmetric erythrokeratodermia	HP:0040281 - Very frequent
HP:0011276	HP:0000965	Cutis marmorata	1	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040281 - Very frequent	6
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		6
HP:0011276	HP:0010783	Erythema	1	LRP1 CL E G H	4035	6692	ORPHA:79100	Atrophoderma vermiculata	HP:0040283 - Occasional	4
HP:0011276	HP:0010783	Erythema	1	LRP1 CL E G H	4035	6692	OMIM:604093	Keratosis pilaris atrophicans		4
HP:0011276	HP:0001009	Telangiectasia	1	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy		125
HP:0011276	HP:0000965	Cutis marmorata	1	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0011276	HP:0001009	Telangiectasia	1	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	LYST CL E G H	1130	1968	ORPHA:352723	Attenuated Chédiak-Higashi syndrome		239
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome		239
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome		239
HP:0011276	HP:0001014	Angiokeratoma	1	MANBA CL E G H	4126	6831	OMIM:248510	MANNOSIDOSIS, BETA A, LYSOSOMAL	.	55
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1		134
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0011276	HP:0001009	Telangiectasia	1	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1		21
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		13
HP:0011276	HP:0000965	Cutis marmorata	1	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040281 - Very frequent	13
HP:0011276	HP:0010783	Erythema	1	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040282 - Frequent	22
HP:0011276	HP:0001025	Urticaria	1	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040283 - Occasional	22
HP:0011276	HP:0010783	Erythema	1	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked		22
HP:0011276	HP:0010783	Erythema	1	MBTPS2 CL E G H	51360	15455	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	HP:0040281 - Very frequent	22
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	MCFD2 CL E G H	90411	18451	ORPHA:35909	Combined deficiency of factor V and factor VIII		77
HP:0011276	HP:0010783	Erythema	1	MEFV CL E G H	4210	6998	ORPHA:342	Familial Mediterranean fever	HP:0040282 - Frequent	281
HP:0011276	HP:0010783	Erythema	1	MEFV CL E G H	4210	6998	OMIM:608068	NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE		281
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		11
HP:0011276	HP:0000965	Cutis marmorata	1	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040281 - Very frequent	11
HP:0011276	HP:0001025	Urticaria	1	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis
HP:0011276	HP:0001009	Telangiectasia	1	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	MPL CL E G H	4352	7217	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included		97
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera		97
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis		97
HP:0011276	HP:0001009	Telangiectasia	1	MRE11 CL E G H	4361	7230	OMIM:604391	Ataxia-Telangiectasia-Like disorder 1	.	532
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency		1
HP:0011276	HP:0001009	Telangiectasia	1	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis		1
HP:0011276	HP:0007394	Prominent superficial blood vessels	1	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis		1
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma		85
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	MVK CL E G H	4598	7530	ORPHA:343	Hyperimmunoglobulinemia D with periodic fever		150
HP:0011276	HP:0001025	Urticaria	1	MVK CL E G H	4598	7530	ORPHA:343	Hyperimmunoglobulinemia D with periodic fever	HP:0040282 - Frequent	150
HP:0011276	HP:0010783	Erythema	1	MVK CL E G H	4598	7530	ORPHA:343	Hyperimmunoglobulinemia D with periodic fever	HP:0040283 - Occasional	150
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia		9
HP:0011276	HP:0001025	Urticaria	1	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia	HP:0040283 - Occasional	9
HP:0011276	HP:0000965	Cutis marmorata	1	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia	HP:0040283 - Occasional	9
HP:0011276	HP:0033832	Livedo	1	MYH11 CL E G H	4629	7569	OMIM:132900	Aortic aneurysm, familial thoracic 4		418
HP:0011276	HP:0000965	Cutis marmorata	1	MYH11 CL E G H	4629	7569	ORPHA:229	Familial aortic dissection	HP:0040283 - Occasional	418
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		418
HP:0011276	HP:0000965	Cutis marmorata	1	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040281 - Very frequent	418
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	MYH9 CL E G H	4627	7579	OMIM:155100	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss		297
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	MYH9 CL E G H	4627	7579	ORPHA:182050	MYH9-related disease		297
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		326
HP:0011276	HP:0000965	Cutis marmorata	1	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040281 - Very frequent	326
HP:0011276	HP:0100665	Angioedema	1	MYOF CL E G H	26509	3656	OMIM:619366	ANGIOEDEMA, HEREDITARY, 7; HAE7
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	MYORG CL E G H	57462	19918	ORPHA:1980	Bilateral striopallidodentate calcinosis	HP:0040281 - Very frequent
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia
HP:0011276	HP:0001009	Telangiectasia	1	NAGA CL E G H	4668	7631	ORPHA:79279	Alpha-N-acetylgalactosaminidase deficiency type 1	HP:0040282 - Frequent	47
HP:0011276	HP:0001014	Angiokeratoma	1	NAGA CL E G H	4668	7631	ORPHA:79280	Alpha-N-acetylgalactosaminidase deficiency type 2		47
HP:0011276	HP:0001009	Telangiectasia	1	NAGA CL E G H	4668	7631	ORPHA:79280	Alpha-N-acetylgalactosaminidase deficiency type 2		47
HP:0011276	HP:0001014	Angiokeratoma	1	NAGA CL E G H	4668	7631	OMIM:609242	Kanzaki disease		47
HP:0011276	HP:0001009	Telangiectasia	1	NAGA CL E G H	4668	7631	OMIM:609242	Kanzaki disease		47
HP:0011276	HP:0010783	Erythema	1	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	NBEAL2 CL E G H	23218	31928	OMIM:139090	Gray platelet syndrome		127
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	NBEAL2 CL E G H	23218	31928	ORPHA:721	Gray platelet syndrome		127
HP:0011276	HP:0001009	Telangiectasia	1	ND1 CL E G H	4535	7455	ORPHA:104	Leber hereditary optic neuropathy
HP:0011276	HP:0010783	Erythema	1	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0011276	HP:0001009	Telangiectasia	1	ND2 CL E G H	4536	7456	ORPHA:104	Leber hereditary optic neuropathy
HP:0011276	HP:0001009	Telangiectasia	1	ND4 CL E G H	4538	7459	ORPHA:104	Leber hereditary optic neuropathy
HP:0011276	HP:0010783	Erythema	1	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0011276	HP:0001009	Telangiectasia	1	ND4L CL E G H	4539	7460	ORPHA:104	Leber hereditary optic neuropathy
HP:0011276	HP:0001009	Telangiectasia	1	ND5 CL E G H	4540	7461	ORPHA:104	Leber hereditary optic neuropathy
HP:0011276	HP:0010783	Erythema	1	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0011276	HP:0001009	Telangiectasia	1	ND6 CL E G H	4541	7462	ORPHA:104	Leber hereditary optic neuropathy
HP:0011276	HP:0010783	Erythema	1	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0011276	HP:0001009	Telangiectasia	1	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy		39
HP:0011276	HP:0010783	Erythema	1	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040281 - Very frequent	3
HP:0011276	HP:0001009	Telangiectasia	1	NDUFS2 CL E G H	4720	7708	ORPHA:104	Leber hereditary optic neuropathy		65
HP:0011276	HP:0001009	Telangiectasia	1	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2	HP:0040283 - Occasional	43
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2		43
HP:0011276	HP:0001009	Telangiectasia	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome		1952
HP:0011276	HP:0000965	Cutis marmorata	1	NFIA CL E G H	4774	7784	ORPHA:401986	1p31p32 microdeletion syndrome		12
HP:0011276	HP:0000965	Cutis marmorata	1	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects	.	12
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome		40
HP:0011276	HP:0000965	Cutis marmorata	1	NFIX CL E G H	4784	7788	OMIM:614753	Sotos syndrome 2	.	40
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency		7
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency		11
HP:0011276	HP:0001009	Telangiectasia	1	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita		27
HP:0011276	HP:0000965	Cutis marmorata	1	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	494
HP:0011276	HP:0000965	Cutis marmorata	1	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.	494
HP:0011276	HP:0001025	Urticaria	1	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC		30
HP:0011276	HP:0001025	Urticaria	1	NLRC4 CL E G H	58484	16412	OMIM:616115	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4; FCAS4		30
HP:0011276	HP:0001025	Urticaria	1	NLRP12 CL E G H	91662	22938	OMIM:611762	Familial cold autoinflammatory syndrome 2		99
HP:0011276	HP:0001025	Urticaria	1	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome	HP:0040281 - Very frequent	217
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome		217
HP:0011276	HP:0001025	Urticaria	1	NLRP3 CL E G H	114548	16400	OMIM:617772	Deafness, autosomal dominant 34, with or without inflammation	.	217
HP:0011276	HP:0001025	Urticaria	1	NLRP3 CL E G H	114548	16400	OMIM:120100	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1		217
HP:0011276	HP:0001025	Urticaria	1	NLRP3 CL E G H	114548	16400	ORPHA:47045	Familial cold urticaria	HP:0040281 - Very frequent	217
HP:0011276	HP:0010783	Erythema	1	NLRP3 CL E G H	114548	16400	ORPHA:47045	Familial cold urticaria	HP:0040281 - Very frequent	217
HP:0011276	HP:0001025	Urticaria	1	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome	HP:0040282 - Frequent	217
HP:0011276	HP:0010783	Erythema	1	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome	HP:0040281 - Very frequent	187
HP:0011276	HP:0001009	Telangiectasia	1	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita		17
HP:0011276	HP:0000965	Cutis marmorata	1	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent	452
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia		12
HP:0011276	HP:0001009	Telangiectasia	1	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita		12
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0011276	HP:0010783	Erythema	1	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects	.	34
HP:0011276	HP:0000965	Cutis marmorata	1	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional	84
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4		97
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria		23
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	ORAI1 CL E G H	84876	25896	ORPHA:3204	Stormorken-Sjaastad-Langslet syndrome		19
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	P2RY12 CL E G H	64805	18124	OMIM:609821	Bleeding disorder, platelet-type, 8		5
HP:0011276	HP:0001009	Telangiectasia	1	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita		26
HP:0011276	HP:0001009	Telangiectasia	1	PCNA CL E G H	5111	8729	OMIM:615919	Ataxia-Telangiectasia-Like disorder 2	.	1
HP:0011276	HP:0001009	Telangiectasia	1	PCNA CL E G H	5111	8729	ORPHA:438134	PCNA-related progressive neurodegenerative photosensitivity syndrome		1
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2		13
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease		13
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease		75
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	PDGFB CL E G H	5155	8800	ORPHA:1980	Bilateral striopallidodentate calcinosis	HP:0040281 - Very frequent	9
HP:0011276	HP:0010783	Erythema	1	PDGFB CL E G H	5155	8800	ORPHA:31112	Dermatofibrosarcoma protuberans	HP:0040281 - Very frequent	9
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	PDGFRB CL E G H	5159	8804	ORPHA:1980	Bilateral striopallidodentate calcinosis	HP:0040281 - Very frequent	28
HP:0011276	HP:0001009	Telangiectasia	1	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0011276	HP:0000965	Cutis marmorata	1	PDSS1 CL E G H	23590	17759	OMIM:614651	Coenzyme Q10 deficiency, primary, 2	.	40
HP:0011276	HP:0001009	Telangiectasia	1	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency		66
HP:0011276	HP:0010783	Erythema	1	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency	HP:0040281 - Very frequent	66
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency		66
HP:0011276	HP:0010783	Erythema	1	PERP CL E G H	64065	17637	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	HP:0040281 - Very frequent
HP:0011276	HP:0001009	Telangiectasia	1	PEX6 CL E G H	5190	8859	ORPHA:95433	Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome		98
HP:0011276	HP:0001009	Telangiectasia	1	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	8
HP:0011276	HP:0001009	Telangiectasia	1	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	20
HP:0011276	HP:0010783	Erythema	1	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0011276	HP:0200029	Vasculitis in the skin	1	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23	.	15
HP:0011276	HP:0200029	Vasculitis in the skin	1	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040282 - Frequent	15
HP:0011276	HP:0010783	Erythema	1	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome	HP:0040281 - Very frequent	36
HP:0011276	HP:0001009	Telangiectasia	1	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	36
HP:0011276	HP:0001009	Telangiectasia	1	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	84
HP:0011276	HP:0001025	Urticaria	1	PIGT CL E G H	51604	14938	OMIM:615399	Paroxysmal nocturnal hemoglobinuria 2	.	12
HP:0011276	HP:0001009	Telangiectasia	1	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	57
HP:0011276	HP:0001009	Telangiectasia	1	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	6
HP:0011276	HP:0001009	Telangiectasia	1	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	2
HP:0011276	HP:0001009	Telangiectasia	1	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome		162
HP:0011276	HP:0001009	Telangiectasia	1	PIK3CA CL E G H	5290	8975	ORPHA:276280	Hemihyperplasia-multiple lipomatosis syndrome		162
HP:0011276	HP:0000965	Cutis marmorata	1	PIK3CA CL E G H	5290	8975	ORPHA:60040	Megalencephaly-capillary malformation-polymicrogyria syndrome	HP:0040282 - Frequent	162
HP:0011276	HP:0001009	Telangiectasia	1	PIK3CA CL E G H	5290	8975	ORPHA:60040	Megalencephaly-capillary malformation-polymicrogyria syndrome		162
HP:0011276	HP:0000965	Cutis marmorata	1	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome	.	162
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	PLAU CL E G H	5328	9052	OMIM:601709	Quebec platelet disorder		50
HP:0011276	HP:0010783	Erythema	1	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated	.	21
HP:0011276	HP:0001025	Urticaria	1	PLCG2 CL E G H	5336	9066	OMIM:614468	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3		21
HP:0011276	HP:0100665	Angioedema	1	PLCG2 CL E G H	5336	9066	OMIM:614468	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3		21
HP:0011276	HP:0010783	Erythema	1	PLCG2 CL E G H	5336	9066	OMIM:614468	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3		21
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	PLEC CL E G H	5339	9069	OMIM:131950	Epidermolysis bullosa simplex, Ogna type		759
HP:0011276	HP:0100665	Angioedema	1	PLG CL E G H	5340	9071	OMIM:619360	ANGIOEDEMA, HEREDITARY, 4; HAE4		11
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1		105
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency		105
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness		5
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia		3
HP:0011276	HP:0000965	Cutis marmorata	1	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR		2
HP:0011276	HP:0001009	Telangiectasia	1	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	.	731
HP:0011276	HP:0001009	Telangiectasia	1	POLE CL E G H	5426	9177	OMIM:615139	Facial dysmorphism, immunodeficiency, livedo, and short stature		1129
HP:0011276	HP:0033832	Livedo	1	POLE CL E G H	5426	9177	OMIM:615139	Facial dysmorphism, immunodeficiency, livedo, and short stature		1129
HP:0011276	HP:0001009	Telangiectasia	1	POLH CL E G H	5429	9181	ORPHA:90342	Xeroderma pigmentosum variant	HP:0040282 - Frequent	155
HP:0011276	HP:0001009	Telangiectasia	1	POLH CL E G H	5429	9181	OMIM:278750	Xeroderma pigmentosum, Variant type	.	155
HP:0011276	HP:0007394	Prominent superficial blood vessels	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0011276	HP:0007394	Prominent superficial blood vessels	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0011276	HP:0001009	Telangiectasia	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0011276	HP:0001009	Telangiectasia	1	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia		20
HP:0011276	HP:0010783	Erythema	1	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040282 - Frequent	20
HP:0011276	HP:0001025	Urticaria	1	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis
HP:0011276	HP:0007394	Prominent superficial blood vessels	1	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy		42
HP:0011276	HP:0007394	Prominent superficial blood vessels	1	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3		42
HP:0011276	HP:0007394	Prominent superficial blood vessels	1	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy		42
HP:0011276	HP:0007394	Prominent superficial blood vessels	1	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2		2
HP:0011276	HP:0001009	Telangiectasia	1	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	148
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome		58
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		58
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	PRF1 CL E G H	5551	9360	ORPHA:88	Idiopathic aplastic anemia		58
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	PRKACA CL E G H	5566	9380	OMIM:615830	Pigmented nodular adrenocortical disease, primary, 4		2
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease		2
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	PRKACG CL E G H	5568	9382	OMIM:616176	Bleeding disorder, platelet-type, 19		2
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia		134
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1		134
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease		134
HP:0011276	HP:0001025	Urticaria	1	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	10
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency		10
HP:0011276	HP:0001009	Telangiectasia	1	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0011276	HP:0000965	Cutis marmorata	1	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040281 - Very frequent	41
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		41
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	PROC CL E G H	5624	9451	ORPHA:745	Severe hereditary thrombophilia due to congenital protein C deficiency		65
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	PROC CL E G H	5624	9451	OMIM:612304	Thrombophilia due to protein C deficiency, autosomal recessive		65
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	PROS1 CL E G H	5627	9456	ORPHA:743	Severe hereditary thrombophilia due to congenital protein S deficiency	HP:0040282 - Frequent	75
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	PROS1 CL E G H	5627	9456	OMIM:614514	Thrombophilia due to protein S deficiency, autosomal recessive		75
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	PROS1 CL E G H	5627	9456	OMIM:612336	Thrombophilia, hereditary, due to protein S deficiency, autosomal		75
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis
HP:0011276	HP:0010783	Erythema	1	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms	.	20
HP:0011276	HP:0010783	Erythema	1	PSMG2 CL E G H	56984	24929	OMIM:619183	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0011276	HP:0000965	Cutis marmorata	1	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism	.	6
HP:0011276	HP:0007394	Prominent superficial blood vessels	1	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism		6
HP:0011276	HP:0000965	Cutis marmorata	1	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome	HP:0040283 - Occasional	948
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome	HP:0040282 - Frequent	948
HP:0011276	HP:0001009	Telangiectasia	1	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome	HP:0040283 - Occasional	948
HP:0011276	HP:0001009	Telangiectasia	1	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome		948
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1		291
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis		3
HP:0011276	HP:0007394	Prominent superficial blood vessels	1	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB		53
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB		53
HP:0011276	HP:0007394	Prominent superficial blood vessels	1	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB		53
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2		67
HP:0011276	HP:0001025	Urticaria	1	RAC2 CL E G H	5880	9802	OMIM:618987	IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C		9
HP:0011276	HP:0000965	Cutis marmorata	1	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	25
HP:0011276	HP:0000965	Cutis marmorata	1	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4	HP:0040283 - Occasional	25
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia		2
HP:0011276	HP:0001009	Telangiectasia	1	RASA1 CL E G H	5921	9871	ORPHA:137667	Capillary malformation-arteriovenous malformation	HP:0040283 - Occasional	88
HP:0011276	HP:0007394	Prominent superficial blood vessels	1	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome	HP:0040282 - Frequent	88
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0011276	HP:0001025	Urticaria	1	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional
HP:0011276	HP:0000965	Cutis marmorata	1	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent	3
HP:0011276	HP:0010783	Erythema	1	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2	HP:0040281 - Very frequent	445
HP:0011276	HP:0001009	Telangiectasia	1	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS		445
HP:0011276	HP:0001009	Telangiectasia	1	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	16
HP:0011276	HP:0010783	Erythema	1	RHOH CL E G H	399	686	OMIM:618307	Epidermodysplasia verruciformis, susceptibility to, 4
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome		43
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	RIN2 CL E G H	54453	18750	ORPHA:217335	RIN2 syndrome		43
HP:0011276	HP:0000965	Cutis marmorata	1	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	33
HP:0011276	HP:0000965	Cutis marmorata	1	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	34
HP:0011276	HP:0000965	Cutis marmorata	1	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	60
HP:0011276	HP:0000965	Cutis marmorata	1	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive	.	3
HP:0011276	HP:0010783	Erythema	1	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome	HP:0040283 - Occasional	7
HP:0011276	HP:0001009	Telangiectasia	1	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome	HP:0040283 - Occasional	7
HP:0011276	HP:0001009	Telangiectasia	1	RNF213 CL E G H	57674	14539	ORPHA:2573	Moyamoya disease	HP:0040281 - Very frequent	14
HP:0011276	HP:0000965	Cutis marmorata	1	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0011276	HP:0000965	Cutis marmorata	1	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome	.	65
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0011276	HP:0001009	Telangiectasia	1	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita		77
HP:0011276	HP:0001025	Urticaria	1	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	181
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	RUNX1 CL E G H	861	10471	OMIM:601399	Platelet disorder, familial, with associated myeloid malignancy		181
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome		8
HP:0011276	HP:0000965	Cutis marmorata	1	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	55
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	SBDS CL E G H	51119	19440	ORPHA:88	Idiopathic aplastic anemia		26
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1		77
HP:0011276	HP:0010783	Erythema	1	SCN10A CL E G H	6336	10582	ORPHA:90026	Primary erythromelalgia	HP:0040281 - Very frequent	146
HP:0011276	HP:0010783	Erythema	1	SCN11A CL E G H	11280	10583	ORPHA:90026	Primary erythromelalgia	HP:0040281 - Very frequent	19
HP:0011276	HP:0010783	Erythema	1	SCN9A CL E G H	6335	10597	ORPHA:90026	Primary erythromelalgia	HP:0040281 - Very frequent	318
HP:0011276	HP:0001009	Telangiectasia	1	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome		237
HP:0011276	HP:0001025	Urticaria	1	SDHB CL E G H	6390	10681	OMIM:606764	Gastrointestinal stromal tumor	.	237
HP:0011276	HP:0001009	Telangiectasia	1	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome		147
HP:0011276	HP:0001025	Urticaria	1	SDHC CL E G H	6391	10682	OMIM:606764	Gastrointestinal stromal tumor	.	147
HP:0011276	HP:0001009	Telangiectasia	1	SDHD CL E G H	6392	10683	ORPHA:100093	Carcinoid syndrome		129
HP:0011276	HP:0001009	Telangiectasia	1	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome		129
HP:0011276	HP:0001009	Telangiectasia	1	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome		60
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0011276	HP:0007394	Prominent superficial blood vessels	1	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0011276	HP:0001009	Telangiectasia	1	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	SERPINE1 CL E G H	5054	8583	ORPHA:465	Congenital plasminogen activator inhibitor type 1 deficiency	HP:0040282 - Frequent	39
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	SERPINF2 CL E G H	5345	9075	ORPHA:79	Congenital alpha2-antiplasmin deficiency		8
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	SERPINF2 CL E G H	5345	9075	OMIM:262850	Plasmin inhibitor deficiency		8
HP:0011276	HP:0010783	Erythema	1	SERPING1 CL E G H	710	1228	OMIM:106100	Angioedema, hereditary, 1	.	64
HP:0011276	HP:0100665	Angioedema	1	SERPING1 CL E G H	710	1228	OMIM:106100	Angioedema, hereditary, 1	.	64
HP:0011276	HP:0001025	Urticaria	1	SERPING1 CL E G H	710	1228	ORPHA:100050	Hereditary angioedema type 1	HP:0040281 - Very frequent	64
HP:0011276	HP:0001009	Telangiectasia	1	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1		162
HP:0011276	HP:0001025	Urticaria	1	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.	49
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	SH2B3 CL E G H	10019	29605	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included		4
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0011276	HP:0001009	Telangiectasia	1	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	150
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	SLC20A2 CL E G H	6575	10947	ORPHA:1980	Bilateral striopallidodentate calcinosis	HP:0040281 - Very frequent	70
HP:0011276	HP:0007394	Prominent superficial blood vessels	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0011276	HP:0001025	Urticaria	1	SLC27A4 CL E G H	10999	10998	OMIM:608649	ICHTHYOSIS PREMATURITY SYNDROME; IPS		26
HP:0011276	HP:0001009	Telangiectasia	1	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome		68
HP:0011276	HP:0001009	Telangiectasia	1	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome		178
HP:0011276	HP:0001009	Telangiectasia	1	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome		178
HP:0011276	HP:0001009	Telangiectasia	1	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome		178
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf		24
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	SLC35A1 CL E G H	10559	11021	ORPHA:238459	SLC35A1-CDG	HP:0040281 - Very frequent	24
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib		110
HP:0011276	HP:0001009	Telangiectasia	1	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic		110
HP:0011276	HP:0007394	Prominent superficial blood vessels	1	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3		24
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3		24
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	SLC39A13 CL E G H	91252	20859	ORPHA:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome		24
HP:0011276	HP:0010783	Erythema	1	SLC39A4 CL E G H	55630	17129	ORPHA:37	Acrodermatitis enteropathica	HP:0040281 - Very frequent	55
HP:0011276	HP:0010783	Erythema	1	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type		55
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	SLC51A CL E G H	200931	29955	OMIM:619484	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6; PFIC6
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	SLFN14 CL E G H	342618	32689	OMIM:616913	Bleeding disorder, platelet-type, 20		6
HP:0011276	HP:0010783	Erythema	1	SLURP1 CL E G H	57152	18746	ORPHA:87503	Mal de Meleda		15
HP:0011276	HP:0010783	Erythema	1	SLURP1 CL E G H	57152	18746	OMIM:248300	Meleda disease		15
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		7
HP:0011276	HP:0000965	Cutis marmorata	1	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040281 - Very frequent	7
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome		260
HP:0011276	HP:0000965	Cutis marmorata	1	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040281 - Very frequent	260
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		260
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		504
HP:0011276	HP:0000965	Cutis marmorata	1	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040281 - Very frequent	504
HP:0011276	HP:0001009	Telangiectasia	1	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia		504
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia		504
HP:0011276	HP:0001009	Telangiectasia	1	SMAD4 CL E G H	4089	6770	OMIM:175050	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome		504
HP:0011276	HP:0000965	Cutis marmorata	1	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	135
HP:0011276	HP:0000965	Cutis marmorata	1	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2	.	135
HP:0011276	HP:0000965	Cutis marmorata	1	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	91
HP:0011276	HP:0000965	Cutis marmorata	1	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3		91
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis		2
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4		315
HP:0011276	HP:0001009	Telangiectasia	1	SOX18 CL E G H	54345	11194	OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia syndrome		7
HP:0011276	HP:0001009	Telangiectasia	1	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome		7
HP:0011276	HP:0000965	Cutis marmorata	1	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	HP:0040282 - Frequent	7
HP:0011276	HP:0001009	Telangiectasia	1	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome		7
HP:0011276	HP:0001009	Telangiectasia	1	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	4
HP:0011276	HP:0001025	Urticaria	1	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis
HP:0011276	HP:0001025	Urticaria	1	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome	.	100
HP:0011276	HP:0100665	Angioedema	1	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome	.	100
HP:0011276	HP:0001025	Urticaria	1	SPINK5 CL E G H	11005	15464	ORPHA:634	Netherton syndrome	HP:0040281 - Very frequent	100
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0011276	HP:0010783	Erythema	1	SREBF1 CL E G H	6720	11289	OMIM:619016	IFAP SYNDROME 2; IFAP2		1
HP:0011276	HP:0001025	Urticaria	1	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	1
HP:0011276	HP:0001025	Urticaria	1	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	1
HP:0011276	HP:0000965	Cutis marmorata	1	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome	HP:0040283 - Occasional	9
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia		110
HP:0011276	HP:0010783	Erythema	1	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome	.	110
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia		12
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	STIM1 CL E G H	6786	11386	ORPHA:3204	Stormorken-Sjaastad-Langslet syndrome		31
HP:0011276	HP:0001009	Telangiectasia	1	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0011276	HP:0000965	Cutis marmorata	1	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0011276	HP:0033832	Livedo	1	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0011276	HP:0010783	Erythema	1	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0011276	HP:0001009	Telangiectasia	1	STN1 CL E G H	79991	26200	OMIM:617341	Cerebroretinal microangiopathy with calcifications and cysts 2		2
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		85
HP:0011276	HP:0001009	Telangiectasia	1	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040283 - Occasional	237
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		70
HP:0011276	HP:0010783	Erythema	1	SULT2B1 CL E G H	6820	11459	OMIM:617571	Ichthyosis, congenital, autosomal recessive 14	.	4
HP:0011276	HP:0001025	Urticaria	1	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0011276	HP:0200029	Vasculitis in the skin	1	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0011276	HP:0001009	Telangiectasia	1	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency		34
HP:0011276	HP:0001009	Telangiectasia	1	TALDO1 CL E G H	6888	11559	ORPHA:101028	Transaldolase deficiency	HP:0040282 - Frequent	34
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia		22
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome		32
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	TBXA2R CL E G H	6915	11608	OMIM:614009	BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO; BDPLT13		10
HP:0011276	HP:0007394	Prominent superficial blood vessels	1	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis		241
HP:0011276	HP:0001009	Telangiectasia	1	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis		241
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis		82
HP:0011276	HP:0001009	Telangiectasia	1	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita		48
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	TERC CL E G H	7012	11727	ORPHA:88	Idiopathic aplastic anemia		48
HP:0011276	HP:0001009	Telangiectasia	1	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita		238
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	TERT CL E G H	7015	11730	ORPHA:88	Idiopathic aplastic anemia		238
HP:0011276	HP:0001025	Urticaria	1	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	3
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera		3
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis		3
HP:0011276	HP:0001025	Urticaria	1	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	3
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	TFR2 CL E G H	7036	11762	OMIM:604250	Hemochromatosis, type 3		67
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		162
HP:0011276	HP:0000965	Cutis marmorata	1	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040281 - Very frequent	162
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4		162
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		85
HP:0011276	HP:0000965	Cutis marmorata	1	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040281 - Very frequent	85
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0011276	HP:0000965	Cutis marmorata	1	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040281 - Very frequent	239
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		239
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome		239
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		253
HP:0011276	HP:0000965	Cutis marmorata	1	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040281 - Very frequent	253
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome		253
HP:0011276	HP:0010783	Erythema	1	TGM1 CL E G H	7051	11777	ORPHA:281127	Acral self-healing collodion baby	HP:0040281 - Very frequent	98
HP:0011276	HP:0010783	Erythema	1	TGM5 CL E G H	9333	11781	ORPHA:263534	Acral peeling skin syndrome	HP:0040282 - Frequent	44
HP:0011276	HP:0010783	Erythema	1	TGM5 CL E G H	9333	11781	OMIM:609796	Peeling skin syndrome, Acral type	.	44
HP:0011276	HP:0001009	Telangiectasia	1	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita		60
HP:0011276	HP:0001009	Telangiectasia	1	TMC6 CL E G H	11322	18021	ORPHA:302	Epidermodysplasia verruciformis		10
HP:0011276	HP:0001009	Telangiectasia	1	TMC8 CL E G H	147138	20474	ORPHA:302	Epidermodysplasia verruciformis		4
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency		32
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency		12
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome		131
HP:0011276	HP:0010783	Erythema	1	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome	HP:0040282 - Frequent	131
HP:0011276	HP:0010783	Erythema	1	TNFRSF1B CL E G H	7133	11917	ORPHA:2584	Classic mycosis fungoides	HP:0040281 - Very frequent
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis		44
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency		1
HP:0011276	HP:0001025	Urticaria	1	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis
HP:0011276	HP:0001025	Urticaria	1	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis		71
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	TNXB CL E G H	7148	11976	ORPHA:230839	Classical-like Ehlers-Danlos syndrome type 1		134
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	TNXB CL E G H	7148	11976	OMIM:606408	Ehlers-Danlos syndrome, classic-like		134
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0011276	HP:0010783	Erythema	1	TRAF3IP2 CL E G H	10758	1343	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040281 - Very frequent	4
HP:0011276	HP:0000965	Cutis marmorata	1	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	56
HP:0011276	HP:0010783	Erythema	1	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1		56
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1		56
HP:0011276	HP:0001009	Telangiectasia	1	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	HP:0040283 - Occasional	56
HP:0011276	HP:0200029	Vasculitis in the skin	1	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations		56
HP:0011276	HP:0001009	Telangiectasia	1	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy	.	56
HP:0011276	HP:0200029	Vasculitis in the skin	1	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy	.	56
HP:0011276	HP:0010783	Erythema	1	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0011276	HP:0010783	Erythema	1	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0011276	HP:0010783	Erythema	1	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0011276	HP:0010783	Erythema	1	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0011276	HP:0010783	Erythema	1	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0011276	HP:0010783	Erythema	1	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0011276	HP:0010783	Erythema	1	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0011276	HP:0010783	Erythema	1	TRPM4 CL E G H	54795	17993	ORPHA:316	Progressive symmetric erythrokeratodermia	HP:0040281 - Very frequent	124
HP:0011276	HP:0010783	Erythema	1	TRPV3 CL E G H	162514	18084	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	HP:0040281 - Very frequent	151
HP:0011276	HP:0001009	Telangiectasia	1	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy		39
HP:0011276	HP:0001009	Telangiectasia	1	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita		1
HP:0011276	HP:0001009	Telangiectasia	1	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		116
HP:0011276	HP:0001009	Telangiectasia	1	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita		8
HP:0011276	HP:0001009	Telangiectasia	1	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0011276	HP:0001009	Telangiectasia	1	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome		1
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2		2
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0011276	HP:0010783	Erythema	1	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic		7
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic		7
HP:0011276	HP:0001009	Telangiectasia	1	UVSSA CL E G H	57654	29304	OMIM:614640	Uv-Sensitive syndrome 3	.	3
HP:0011276	HP:0001009	Telangiectasia	1	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E		26
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	VWF CL E G H	7450	12726	OMIM:193400	Von willebrand disease, type 1		533
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	VWF CL E G H	7450	12726	OMIM:613554	Von willebrand disease, type 2		533
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	VWF CL E G H	7450	12726	OMIM:277480	Von willebrand disease, type 3		533
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	WAS CL E G H	7454	12731	OMIM:313900	Thrombocytopenia 1		65
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0011276	HP:0001025	Urticaria	1	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040283 - Occasional	65
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome		65
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome		6
HP:0011276	HP:0001025	Urticaria	1	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040283 - Occasional	6
HP:0011276	HP:0010783	Erythema	1	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia	.	71
HP:0011276	HP:0001009	Telangiectasia	1	WNT10A CL E G H	80326	13829	ORPHA:50944	Schöpf-Schulz-Passarge syndrome		71
HP:0011276	HP:0001009	Telangiectasia	1	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita		40
HP:0011276	HP:0001009	Telangiectasia	1	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome		310
HP:0011276	HP:0010783	Erythema	1	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	34
HP:0011276	HP:0001009	Telangiectasia	1	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	34
HP:0011276	HP:0001009	Telangiectasia	1	XPA CL E G H	7507	12814	OMIM:278700	Xeroderma pigmentosum, complementation group A	.	34
HP:0011276	HP:0010783	Erythema	1	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	86
HP:0011276	HP:0001009	Telangiectasia	1	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	86
HP:0011276	HP:0001009	Telangiectasia	1	XPC CL E G H	7508	12816	OMIM:278720	Xeroderma pigmentosum, complementation group C	.	86
HP:0011276	HP:0100665	Angioedema	1	XPNPEP2 CL E G H	7512	12823	OMIM:300909	Acquired angioedema	.	4
HP:0011276	HP:0100665	Angioedema	1	XPNPEP2 CL E G H	7512	12823	ORPHA:100057	Renin-angiotensin-aldosterone system-blocker-induced angioedema		4
HP:0011276	HP:0010783	Erythema	1	XPNPEP2 CL E G H	7512	12823	ORPHA:100057	Renin-angiotensin-aldosterone system-blocker-induced angioedema		4
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	XPR1 CL E G H	9213	12827	ORPHA:1980	Bilateral striopallidodentate calcinosis	HP:0040281 - Very frequent	4
HP:0011276	HP:0001009	Telangiectasia	1	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome		9
HP:0011276	HP:0010783	Erythema	1	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome	HP:0040282 - Frequent	9
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia		1
HP:0011276	HP:0007394	Prominent superficial blood vessels	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040281 - Very frequent	83
HP:0011276	HP:0007394	Prominent superficial blood vessels	1	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy		83
HP:0011276	HP:0007394	Prominent superficial blood vessels	1	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.	83
HP:0011276	HP:0001009	Telangiectasia	1	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy		14
HP:0011276	HP:0001933	Subcutaneous hemorrhage	1	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome		397
HP:0011276	HP:0034411	Angiokeratoma of Mibelli	2	CL E G H
HP:0011276	HP:0034410	Angiokeratoma circumscriptum naeviforme	2	CL E G H
HP:0011276	HP:0031181	Necrolytic migratory erythema	2	CL E G H
HP:0011276	HP:0034409	Fordyce angiokeratoma	2	CL E G H
HP:0011276	HP:0034408	Solitary angiokeratoma	2	CL E G H
HP:0011276	HP:0410133	Chronic idiopathic urticaria	2	CL E G H
HP:0011276	HP:0025536	V-sign	2	CL E G H
HP:0011276	HP:0033622	Migratory erythematous plaque	2	CL E G H
HP:0011276	HP:0025535	Shawl sign	2	CL E G H
HP:0011276	HP:0040323	Erythema of the eyelids	2	CL E G H
HP:0011276	HP:0033167	Neutrophilic urticarial dermatosis	2	CL E G H
HP:0011276	HP:0100585	Telangiectasia of the skin	2	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum	HP:0040283 - Occasional	415
HP:0011276	HP:0000978	Bruising susceptibility	2	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum	HP:0040282 - Frequent	415
HP:0011276	HP:0000979	Purpura	2	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation	.	16
HP:0011276	HP:0033505	Livedo reticularis	2	ACTA2 CL E G H	59	130	OMIM:611788	AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6		94
HP:0011276	HP:0000978	Bruising susceptibility	2	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	94
HP:0011276	HP:0100579	Mucosal telangiectasiae	2	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040281 - Very frequent	178
HP:0011276	HP:0007420	Spontaneous hematomas	2	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040282 - Frequent	178
HP:0011276	HP:0100585	Telangiectasia of the skin	2	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040281 - Very frequent	178
HP:0011276	HP:0007763	Retinal telangiectasia	2	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	178
HP:0011276	HP:0001232	Nail bed telangiectasia	2	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.	178
HP:0011276	HP:0100579	Mucosal telangiectasiae	2	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2		178
HP:0011276	HP:0100585	Telangiectasia of the skin	2	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2		178
HP:0011276	HP:0033260	Livedo racemosa	2	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome		22
HP:0011276	HP:0033505	Livedo reticularis	2	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome		22
HP:0011276	HP:0000979	Purpura	2	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0011276	HP:0033260	Livedo racemosa	2	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0011276	HP:0033195	Perianal erythema	2	ADAM17 CL E G H	6868	195	OMIM:614328	INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1		2
HP:0011276	HP:0033194	Perioral erythema	2	ADAM17 CL E G H	6868	195	OMIM:614328	INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1		2
HP:0011276	HP:0000978	Bruising susceptibility	2	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive	.	165
HP:0011276	HP:0001041	Facial erythema	2	ADGRE2 CL E G H	30817	3337	OMIM:125630	Dermodistortive urticaria	.	2
HP:0011276	HP:0000978	Bruising susceptibility	2	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040281 - Very frequent
HP:0011276	HP:0001015	Prominent superficial veins	2	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0011276	HP:0000978	Bruising susceptibility	2	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2	.
HP:0011276	HP:0001015	Prominent superficial veins	2	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0011276	HP:0001071	Angiokeratoma corporis diffusum	2	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA	.	76
HP:0011276	HP:0001015	Prominent superficial veins	2	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	85
HP:0011276	HP:0001041	Facial erythema	2	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.	95
HP:0011276	HP:0000978	Bruising susceptibility	2	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.	95
HP:0011276	HP:0000979	Purpura	2	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.	95
HP:0011276	HP:0100579	Mucosal telangiectasiae	2	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	54
HP:0011276	HP:0001041	Facial erythema	2	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1	HP:0040282 - Frequent	2
HP:0011276	HP:0000978	Bruising susceptibility	2	ANKRD26 CL E G H	22852	29186	OMIM:188000	THROMBOCYTOPENIA 2; THC2		106
HP:0011276	HP:0001015	Prominent superficial veins	2	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome		8
HP:0011276	HP:0100585	Telangiectasia of the skin	2	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis	HP:0040281 - Very frequent	49
HP:0011276	HP:0000979	Purpura	2	APOE CL E G H	348	613	ORPHA:158029	Sea-blue histiocytosis		39
HP:0011276	HP:0100585	Telangiectasia of the skin	2	ARL6IP6 CL E G H	151188	24048	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040282 - Frequent	1
HP:0011276	HP:0000979	Purpura	2	ARL6IP6 CL E G H	151188	24048	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040283 - Occasional	1
HP:0011276	HP:0000978	Bruising susceptibility	2	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia	HP:0040282 - Frequent	7
HP:0011276	HP:0100585	Telangiectasia of the skin	2	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0011276	HP:0000979	Purpura	2	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	1
HP:0011276	HP:0100585	Telangiectasia of the skin	2	ARX CL E G H	170302	18060	ORPHA:94083	Partington syndrome		166
HP:0011276	HP:0100579	Mucosal telangiectasiae	2	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0011276	HP:0100579	Mucosal telangiectasiae	2	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia	HP:0040281 - Very frequent	3267
HP:0011276	HP:0100585	Telangiectasia of the skin	2	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia	HP:0040281 - Very frequent	3267
HP:0011276	HP:0007763	Retinal telangiectasia	2	ATP6 CL E G H	4508	7414	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0011276	HP:0001015	Prominent superficial veins	2	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		140
HP:0011276	HP:0001015	Prominent superficial veins	2	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome		140
HP:0011276	HP:0001015	Prominent superficial veins	2	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		3
HP:0011276	HP:0001015	Prominent superficial veins	2	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		2
HP:0011276	HP:0007420	Spontaneous hematomas	2	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease	HP:0040283 - Occasional	192
HP:0011276	HP:0000978	Bruising susceptibility	2	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome	.	192
HP:0011276	HP:0000978	Bruising susceptibility	2	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040282 - Frequent	192
HP:0011276	HP:0000978	Bruising susceptibility	2	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease	HP:0040281 - Very frequent	315
HP:0011276	HP:0100585	Telangiectasia of the skin	2	ATR CL E G H	545	882	OMIM:614564	Cutaneous telangiectasia and cancer syndrome, familial		168
HP:0011276	HP:0000978	Bruising susceptibility	2	ATRX CL E G H	546	886	ORPHA:231401	Alpha-thalassemia-myelodysplastic syndrome	HP:0040282 - Frequent	169
HP:0011276	HP:0000978	Bruising susceptibility	2	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease	HP:0040282 - Frequent	169
HP:0011276	HP:0000979	Purpura	2	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0011276	HP:0100585	Telangiectasia of the skin	2	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach		169
HP:0011276	HP:0000978	Bruising susceptibility	2	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040282 - Frequent	38
HP:0011276	HP:0001015	Prominent superficial veins	2	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome		22
HP:0011276	HP:0000979	Purpura	2	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	101
HP:0011276	HP:0000978	Bruising susceptibility	2	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	101
HP:0011276	HP:0001041	Facial erythema	2	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome		314
HP:0011276	HP:0100585	Telangiectasia of the skin	2	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome		314
HP:0011276	HP:0000978	Bruising susceptibility	2	BLOC1S3 CL E G H	388552	20914	OMIM:614077	Hermansky-Pudlak syndrome 8	.	42
HP:0011276	HP:0000978	Bruising susceptibility	2	BLOC1S5 CL E G H	63915	18561	OMIM:619172	HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0011276	HP:0000979	Purpura	2	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0011276	HP:0000978	Bruising susceptibility	2	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease	HP:0040282 - Frequent	276
HP:0011276	HP:0000978	Bruising susceptibility	2	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1		276
HP:0011276	HP:0001015	Prominent superficial veins	2	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	105
HP:0011276	HP:0000978	Bruising susceptibility	2	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1	.	15
HP:0011276	HP:0001015	Prominent superficial veins	2	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1		15
HP:0011276	HP:0000978	Bruising susceptibility	2	C1S CL E G H	716	1247	OMIM:617174	Ehlers-Danlos syndrome, periodontal type, 2	.	7
HP:0011276	HP:0000979	Purpura	2	C2 CL E G H	717	1248	OMIM:217000	Complement component 2 deficiency	.	23
HP:0011276	HP:0000979	Purpura	2	C4A CL E G H	720	1323	OMIM:614380	Complement component 4A deficiency	.	1
HP:0011276	HP:0000979	Purpura	2	CALR CL E G H	811	1455	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included		1
HP:0011276	HP:0000979	Purpura	2	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	1
HP:0011276	HP:0410134	Physical urticaria	2	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0011276	HP:0000978	Bruising susceptibility	2	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	87
HP:0011276	HP:0000979	Purpura	2	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0011276	HP:0001015	Prominent superficial veins	2	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	11
HP:0011276	HP:0100585	Telangiectasia of the skin	2	CAV1 CL E G H	857	1527	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent	11
HP:0011276	HP:0100585	Telangiectasia of the skin	2	CAV1 CL E G H	857	1527	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040282 - Frequent	11
HP:0011276	HP:0100579	Mucosal telangiectasiae	2	CAV1 CL E G H	857	1527	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040282 - Frequent	11
HP:0011276	HP:0001015	Prominent superficial veins	2	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	48
HP:0011276	HP:0100585	Telangiectasia of the skin	2	CCN2 CL E G H	1490	2500	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent
HP:0011276	HP:0100579	Mucosal telangiectasiae	2	CCN2 CL E G H	1490	2500	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040282 - Frequent
HP:0011276	HP:0100585	Telangiectasia of the skin	2	CCN2 CL E G H	1490	2500	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040282 - Frequent
HP:0011276	HP:0100585	Telangiectasia of the skin	2	CCR6 CL E G H	1235	1607	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent
HP:0011276	HP:0100585	Telangiectasia of the skin	2	CCR6 CL E G H	1235	1607	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040282 - Frequent
HP:0011276	HP:0100579	Mucosal telangiectasiae	2	CCR6 CL E G H	1235	1607	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040282 - Frequent
HP:0011276	HP:0007420	Spontaneous hematomas	2	CD109 CL E G H	135228	21685	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040282 - Frequent
HP:0011276	HP:0000979	Purpura	2	CD109 CL E G H	135228	21685	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040282 - Frequent
HP:0011276	HP:0000979	Purpura	2	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	38
HP:0011276	HP:0000979	Purpura	2	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	1
HP:0011276	HP:0000979	Purpura	2	CD81 CL E G H	975	1701	OMIM:613496	Immunodeficiency, common variable, 6		1
HP:0011276	HP:0000978	Bruising susceptibility	2	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease	HP:0040282 - Frequent	636
HP:0011276	HP:0000979	Purpura	2	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0011276	HP:0000979	Purpura	2	CFH CL E G H	3075	4883	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.	86
HP:0011276	HP:0000979	Purpura	2	CFHR1 CL E G H	3078	4888	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.
HP:0011276	HP:0000979	Purpura	2	CFHR3 CL E G H	10878	16980	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.
HP:0011276	HP:0000978	Bruising susceptibility	2	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1	.	27
HP:0011276	HP:0000979	Purpura	2	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1		27
HP:0011276	HP:0000978	Bruising susceptibility	2	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent	27
HP:0011276	HP:0100585	Telangiectasia of the skin	2	CIB1 CL E G H	10519	16920	ORPHA:302	Epidermodysplasia verruciformis	HP:0040283 - Occasional
HP:0011276	HP:0000978	Bruising susceptibility	2	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040283 - Occasional	102
HP:0011276	HP:0000979	Purpura	2	CLCN7 CL E G H	1186	2025	OMIM:611490	Osteopetrosis, autosomal recessive 4		102
HP:0011276	HP:0001015	Prominent superficial veins	2	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome	.	67
HP:0011276	HP:0007420	Spontaneous hematomas	2	COG8 CL E G H	84342	18623	ORPHA:95428	COG8-CDG	HP:0040283 - Occasional	39
HP:0011276	HP:0000978	Bruising susceptibility	2	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	373
HP:0011276	HP:0000979	Purpura	2	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome		373
HP:0011276	HP:0000978	Bruising susceptibility	2	COL1A1 CL E G H	1277	2197	OMIM:619115	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1		373
HP:0011276	HP:0000978	Bruising susceptibility	2	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1	.	373
HP:0011276	HP:0000978	Bruising susceptibility	2	COL1A1 CL E G H	1277	2197	OMIM:166200	Osteogenesis imperfecta, type I	.	373
HP:0011276	HP:0000978	Bruising susceptibility	2	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040282 - Frequent	243
HP:0011276	HP:0000978	Bruising susceptibility	2	COL1A2 CL E G H	1278	2198	OMIM:619120	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2; OIEDS2		243
HP:0011276	HP:0000978	Bruising susceptibility	2	COL1A2 CL E G H	1278	2198	OMIM:617821	Ehlers-Danlos syndrome, arthrochalasia type, 2	.	243
HP:0011276	HP:0000978	Bruising susceptibility	2	COL1A2 CL E G H	1278	2198	OMIM:225320	Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form	.	243
HP:0011276	HP:0100585	Telangiectasia of the skin	2	COL3A1 CL E G H	1281	2201	ORPHA:2500	Acrogeria	HP:0040282 - Frequent	749
HP:0011276	HP:0000978	Bruising susceptibility	2	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0011276	HP:0000979	Purpura	2	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0011276	HP:0000978	Bruising susceptibility	2	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome	.	749
HP:0011276	HP:0000978	Bruising susceptibility	2	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040281 - Very frequent	749
HP:0011276	HP:0100585	Telangiectasia of the skin	2	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040282 - Frequent	749
HP:0011276	HP:0000979	Purpura	2	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome		660
HP:0011276	HP:0000978	Bruising susceptibility	2	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	660
HP:0011276	HP:0000978	Bruising susceptibility	2	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I		660
HP:0011276	HP:0000978	Bruising susceptibility	2	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	325
HP:0011276	HP:0000979	Purpura	2	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome		325
HP:0011276	HP:0000978	Bruising susceptibility	2	COL5A2 CL E G H	1290	2210	OMIM:130010	Ehlers-Danlos syndrome, classic type, 2		325
HP:0011276	HP:0000979	Purpura	2	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	6
HP:0011276	HP:0007763	Retinal telangiectasia	2	COX1 CL E G H	4512	7419	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0011276	HP:0007763	Retinal telangiectasia	2	COX3 CL E G H	4514	7422	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0011276	HP:0000979	Purpura	2	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	10
HP:0011276	HP:0000978	Bruising susceptibility	2	CREB3L1 CL E G H	90993	18856	OMIM:616229	Osteogenesis imperfecta, type XVI		4
HP:0011276	HP:0007763	Retinal telangiectasia	2	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts	.	160
HP:0011276	HP:0100585	Telangiectasia of the skin	2	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	160
HP:0011276	HP:0000979	Purpura	2	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional	10
HP:0011276	HP:0007763	Retinal telangiectasia	2	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy		88
HP:0011276	HP:0100579	Mucosal telangiectasiae	2	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis		51
HP:0011276	HP:0100585	Telangiectasia of the skin	2	CYLD CL E G H	1540	2584	ORPHA:211	Familial cylindromatosis	HP:0040281 - Very frequent	126
HP:0011276	HP:0100585	Telangiectasia of the skin	2	CYLD CL E G H	1540	2584	ORPHA:867	Familial multiple trichoepithelioma	HP:0040282 - Frequent	126
HP:0011276	HP:0007763	Retinal telangiectasia	2	CYTB CL E G H	4519	7427	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0011276	HP:0100585	Telangiectasia of the skin	2	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach
HP:0011276	HP:0100585	Telangiectasia of the skin	2	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	30
HP:0011276	HP:0100579	Mucosal telangiectasiae	2	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum		30
HP:0011276	HP:0100585	Telangiectasia of the skin	2	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	65
HP:0011276	HP:0007763	Retinal telangiectasia	2	DNAJC30 CL E G H	84277	16410	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0011276	HP:0007763	Retinal telangiectasia	2	DNAJC30 CL E G H	84277	16410	OMIM:619382	LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR
HP:0011276	HP:0000978	Bruising susceptibility	2	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent	13
HP:0011276	HP:0025493	Palmoplantar erythema	2	DSP CL E G H	1832	3052	OMIM:607655	Skin fragility-woolly hair syndrome		747
HP:0011276	HP:0000978	Bruising susceptibility	2	DTNBP1 CL E G H	84062	17328	OMIM:614076	Hermansky-Pudlak syndrome 7	.	46
HP:0011276	HP:0100585	Telangiectasia of the skin	2	ELMO2 CL E G H	63916	17233	ORPHA:3019	Ramon syndrome	HP:0040283 - Occasional	3
HP:0011276	HP:0000978	Bruising susceptibility	2	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	172
HP:0011276	HP:0000978	Bruising susceptibility	2	EMILIN1 CL E G H	11117	19880	OMIM:620080			2
HP:0011276	HP:0100579	Mucosal telangiectasiae	2	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040281 - Very frequent	186
HP:0011276	HP:0007420	Spontaneous hematomas	2	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040282 - Frequent	186
HP:0011276	HP:0007763	Retinal telangiectasia	2	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	186
HP:0011276	HP:0100585	Telangiectasia of the skin	2	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040281 - Very frequent	186
HP:0011276	HP:0100585	Telangiectasia of the skin	2	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1		186
HP:0011276	HP:0001232	Nail bed telangiectasia	2	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1	.	186
HP:0011276	HP:0100579	Mucosal telangiectasiae	2	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1		186
HP:0011276	HP:0000978	Bruising susceptibility	2	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum	HP:0040282 - Frequent	151
HP:0011276	HP:0100585	Telangiectasia of the skin	2	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum	HP:0040283 - Occasional	151
HP:0011276	HP:0100579	Mucosal telangiectasiae	2	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum		106
HP:0011276	HP:0100585	Telangiectasia of the skin	2	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	106
HP:0011276	HP:0100579	Mucosal telangiectasiae	2	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum		54
HP:0011276	HP:0100585	Telangiectasia of the skin	2	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	54
HP:0011276	HP:0100579	Mucosal telangiectasiae	2	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum		158
HP:0011276	HP:0100585	Telangiectasia of the skin	2	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	158
HP:0011276	HP:0100579	Mucosal telangiectasiae	2	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum		83
HP:0011276	HP:0100585	Telangiectasia of the skin	2	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	83
HP:0011276	HP:0000979	Purpura	2	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic		42
HP:0011276	HP:0000979	Purpura	2	ETHE1 CL E G H	23474	23287	ORPHA:51188	Ethylmalonic encephalopathy		42
HP:0011276	HP:0000978	Bruising susceptibility	2	ETV6 CL E G H	2120	3495	OMIM:616216	Thrombocytopenia 5	.	13
HP:0011276	HP:0000979	Purpura	2	ETV6 CL E G H	2120	3495	OMIM:616216	Thrombocytopenia 5		13
HP:0011276	HP:0000978	Bruising susceptibility	2	F10 CL E G H	2159	3528	ORPHA:328	Congenital factor X deficiency	HP:0040283 - Occasional	33
HP:0011276	HP:0007420	Spontaneous hematomas	2	F10 CL E G H	2159	3528	ORPHA:328	Congenital factor X deficiency	HP:0040283 - Occasional	33
HP:0011276	HP:0007420	Spontaneous hematomas	2	F13A1 CL E G H	2162	3531	ORPHA:331	Congenital factor XIII deficiency	HP:0040282 - Frequent	60
HP:0011276	HP:0000979	Purpura	2	F13A1 CL E G H	2162	3531	ORPHA:331	Congenital factor XIII deficiency		60
HP:0011276	HP:0000978	Bruising susceptibility	2	F13A1 CL E G H	2162	3531	ORPHA:331	Congenital factor XIII deficiency	HP:0040282 - Frequent	60
HP:0011276	HP:0000979	Purpura	2	F13A1 CL E G H	2162	3531	OMIM:613225	Factor XIII, A subunit, deficiency of		60
HP:0011276	HP:0000978	Bruising susceptibility	2	F13A1 CL E G H	2162	3531	OMIM:613225	Factor XIII, A subunit, deficiency of	.	60
HP:0011276	HP:0007420	Spontaneous hematomas	2	F13A1 CL E G H	2162	3531	OMIM:613225	Factor XIII, A subunit, deficiency of	.	60
HP:0011276	HP:0000978	Bruising susceptibility	2	F13B CL E G H	2165	3534	ORPHA:331	Congenital factor XIII deficiency	HP:0040282 - Frequent	32
HP:0011276	HP:0000979	Purpura	2	F13B CL E G H	2165	3534	ORPHA:331	Congenital factor XIII deficiency		32
HP:0011276	HP:0007420	Spontaneous hematomas	2	F13B CL E G H	2165	3534	ORPHA:331	Congenital factor XIII deficiency	HP:0040282 - Frequent	32
HP:0011276	HP:0000979	Purpura	2	F13B CL E G H	2165	3534	OMIM:613235	Factor XIIIB deficiency		32
HP:0011276	HP:0000978	Bruising susceptibility	2	F13B CL E G H	2165	3534	OMIM:613235	Factor XIIIB deficiency	.	32
HP:0011276	HP:0000978	Bruising susceptibility	2	F2 CL E G H	2147	3535	OMIM:613679	Congenital prothrombin deficiency	.	44
HP:0011276	HP:0000979	Purpura	2	F2 CL E G H	2147	3535	OMIM:613679	Congenital prothrombin deficiency		44
HP:0011276	HP:0007420	Spontaneous hematomas	2	F5 CL E G H	2153	3542	ORPHA:326	Congenital factor V deficiency	HP:0040283 - Occasional	159
HP:0011276	HP:0000978	Bruising susceptibility	2	F5 CL E G H	2153	3542	ORPHA:326	Congenital factor V deficiency	HP:0040283 - Occasional	159
HP:0011276	HP:0000978	Bruising susceptibility	2	F5 CL E G H	2153	3542	OMIM:227400	Factor V deficiency	.	159
HP:0011276	HP:0000978	Bruising susceptibility	2	F7 CL E G H	2155	3544	ORPHA:327	Congenital factor VII deficiency	HP:0040282 - Frequent	70
HP:0011276	HP:0007420	Spontaneous hematomas	2	F8 CL E G H	2157	3546	ORPHA:177926	Bleeding disorder in hemophilia A carriers without FVIII deficiency	HP:0040284 - Very rare	303
HP:0011276	HP:0000978	Bruising susceptibility	2	F8 CL E G H	2157	3546	ORPHA:177926	Bleeding disorder in hemophilia A carriers without FVIII deficiency	HP:0040281 - Very frequent	303
HP:0011276	HP:0000978	Bruising susceptibility	2	F8 CL E G H	2157	3546	OMIM:306700	Hemophilia A	.	303
HP:0011276	HP:0007420	Spontaneous hematomas	2	F8 CL E G H	2157	3546	ORPHA:169805	Moderate hemophilia A	HP:0040284 - Very rare	303
HP:0011276	HP:0000978	Bruising susceptibility	2	F8 CL E G H	2157	3546	ORPHA:169802	Severe hemophilia A	HP:0040282 - Frequent	303
HP:0011276	HP:0000978	Bruising susceptibility	2	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia	.	340
HP:0011276	HP:0000978	Bruising susceptibility	2	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C	.	410
HP:0011276	HP:0000978	Bruising susceptibility	2	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2	.	147
HP:0011276	HP:0000978	Bruising susceptibility	2	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E	.	73
HP:0011276	HP:0000978	Bruising susceptibility	2	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	59
HP:0011276	HP:0000978	Bruising susceptibility	2	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	37
HP:0011276	HP:0000978	Bruising susceptibility	2	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	1361
HP:0011276	HP:0000978	Bruising susceptibility	2	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0011276	HP:0000978	Bruising susceptibility	2	FCGR2C CL E G H	9103	15626	ORPHA:3002	Immune thrombocytopenia	HP:0040283 - Occasional
HP:0011276	HP:0000979	Purpura	2	FCGR2C CL E G H	9103	15626	ORPHA:3002	Immune thrombocytopenia	HP:0040282 - Frequent
HP:0011276	HP:0100585	Telangiectasia of the skin	2	FERMT1 CL E G H	55612	15889	OMIM:173650	Kindler syndrome		136
HP:0011276	HP:0000979	Purpura	2	FERMT3 CL E G H	83706	23151	OMIM:612840	Leukocyte adhesion deficiency, type III		23
HP:0011276	HP:0000978	Bruising susceptibility	2	FGA CL E G H	2243	3661	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		47
HP:0011276	HP:0000978	Bruising susceptibility	2	FGB CL E G H	2244	3662	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		62
HP:0011276	HP:0000978	Bruising susceptibility	2	FGG CL E G H	2266	3694	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		34
HP:0011276	HP:0000979	Purpura	2	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	4
HP:0011276	HP:0000978	Bruising susceptibility	2	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	4
HP:0011276	HP:0000978	Bruising susceptibility	2	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2	HP:0040283 - Occasional	13
HP:0011276	HP:0000978	Bruising susceptibility	2	FKBP14 CL E G H	55033	18625	ORPHA:300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency	HP:0040282 - Frequent	13
HP:0011276	HP:0000978	Bruising susceptibility	2	FLNA CL E G H	2316	3754	ORPHA:75497	X-linked Ehlers-Danlos syndrome	HP:0040281 - Very frequent	493
HP:0011276	HP:0001015	Prominent superficial veins	2	FLT4 CL E G H	2324	3767	OMIM:153100	Lymphatic malformation 1		90
HP:0011276	HP:0001015	Prominent superficial veins	2	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional
HP:0011276	HP:0000978	Bruising susceptibility	2	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	23
HP:0011276	HP:0007763	Retinal telangiectasia	2	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1	.	1
HP:0011276	HP:0000979	Purpura	2	FYB1 CL E G H	2533	4036	OMIM:273900	THROMBOCYTOPENIA 3; THC3		4
HP:0011276	HP:0007763	Retinal telangiectasia	2	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy		109
HP:0011276	HP:0001015	Prominent superficial veins	2	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0011276	HP:0000979	Purpura	2	GATA1 CL E G H	2623	4170	OMIM:314050	Thrombocytopenia with beta-thalassemia, X-linked		29
HP:0011276	HP:0000978	Bruising susceptibility	2	GATA1 CL E G H	2623	4170	OMIM:314050	Thrombocytopenia with beta-thalassemia, X-linked	.	29
HP:0011276	HP:0000978	Bruising susceptibility	2	GATA1 CL E G H	2623	4170	OMIM:300367	Thrombocytopenia, X-linked, with or without dyserythropoietic anemia	.	29
HP:0011276	HP:0000979	Purpura	2	GATA1 CL E G H	2623	4170	OMIM:300367	Thrombocytopenia, X-linked, with or without dyserythropoietic anemia		29
HP:0011276	HP:0000978	Bruising susceptibility	2	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome	HP:0040282 - Frequent	137
HP:0011276	HP:0000978	Bruising susceptibility	2	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1	HP:0040282 - Frequent
HP:0011276	HP:0000979	Purpura	2	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal	.
HP:0011276	HP:0000979	Purpura	2	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0011276	HP:0007420	Spontaneous hematomas	2	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040282 - Frequent	8
HP:0011276	HP:0100579	Mucosal telangiectasiae	2	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040281 - Very frequent	8
HP:0011276	HP:0100585	Telangiectasia of the skin	2	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040281 - Very frequent	8
HP:0011276	HP:0007763	Retinal telangiectasia	2	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	8
HP:0011276	HP:0000978	Bruising susceptibility	2	GFI1B CL E G H	8328	4238	OMIM:187900	Bleeding disorder, platelet-type, 17	.	3
HP:0011276	HP:0000979	Purpura	2	GFI1B CL E G H	8328	4238	OMIM:187900	Bleeding disorder, platelet-type, 17		3
HP:0011276	HP:0000978	Bruising susceptibility	2	GGCX CL E G H	2677	4247	OMIM:277450	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1	.	129
HP:0011276	HP:0000979	Purpura	2	GGCX CL E G H	2677	4247	OMIM:277450	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1		129
HP:0011276	HP:0000979	Purpura	2	GIMAP5 CL E G H	55340	18005	OMIM:619463	PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0011276	HP:0001041	Facial erythema	2	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia		68
HP:0011276	HP:0025493	Palmoplantar erythema	2	GJA1 CL E G H	2697	4274	OMIM:104100	Palmoplantar keratoderma with congenital alopecia		68
HP:0011276	HP:0025493	Palmoplantar erythema	2	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0011276	HP:0025493	Palmoplantar erythema	2	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0011276	HP:0100585	Telangiectasia of the skin	2	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040281 - Very frequent	291
HP:0011276	HP:0001071	Angiokeratoma corporis diffusum	2	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease		291
HP:0011276	HP:0100579	Mucosal telangiectasiae	2	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040281 - Very frequent	291
HP:0011276	HP:0001071	Angiokeratoma corporis diffusum	2	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I	.	120
HP:0011276	HP:0100585	Telangiectasia of the skin	2	GNA11 CL E G H	2767	4379	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040282 - Frequent	16
HP:0011276	HP:0000979	Purpura	2	GNA11 CL E G H	2767	4379	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040283 - Occasional	16
HP:0011276	HP:0000979	Purpura	2	GNA14 CL E G H	9630	4382	ORPHA:1063	Tufted angioma	HP:0040283 - Occasional
HP:0011276	HP:0100579	Mucosal telangiectasiae	2	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome		7
HP:0011276	HP:0000978	Bruising susceptibility	2	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia	.	101
HP:0011276	HP:0000978	Bruising susceptibility	2	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia	HP:0040282 - Frequent	101
HP:0011276	HP:0001041	Facial erythema	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011276	HP:0100585	Telangiectasia of the skin	2	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II		240
HP:0011276	HP:0007420	Spontaneous hematomas	2	GP1BA CL E G H	2811	4439	ORPHA:274	Bernard-Soulier syndrome	HP:0040282 - Frequent	23
HP:0011276	HP:0000978	Bruising susceptibility	2	GP1BA CL E G H	2811	4439	ORPHA:274	Bernard-Soulier syndrome	HP:0040283 - Occasional	23
HP:0011276	HP:0000979	Purpura	2	GP1BA CL E G H	2811	4439	ORPHA:274	Bernard-Soulier syndrome		23
HP:0011276	HP:0000979	Purpura	2	GP1BA CL E G H	2811	4439	OMIM:153670	Bernard-Soulier syndrome, type A2, autosomal dominant		23
HP:0011276	HP:0000978	Bruising susceptibility	2	GP1BA CL E G H	2811	4439	OMIM:153670	Bernard-Soulier syndrome, type A2, autosomal dominant	.	23
HP:0011276	HP:0000979	Purpura	2	GP1BA CL E G H	2811	4439	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		23
HP:0011276	HP:0000979	Purpura	2	GP1BA CL E G H	2811	4439	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040282 - Frequent	23
HP:0011276	HP:0007420	Spontaneous hematomas	2	GP1BA CL E G H	2811	4439	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040282 - Frequent	23
HP:0011276	HP:0000979	Purpura	2	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	8
HP:0011276	HP:0007420	Spontaneous hematomas	2	GP1BB CL E G H	2812	4440	ORPHA:274	Bernard-Soulier syndrome	HP:0040282 - Frequent	8
HP:0011276	HP:0000978	Bruising susceptibility	2	GP1BB CL E G H	2812	4440	ORPHA:274	Bernard-Soulier syndrome	HP:0040283 - Occasional	8
HP:0011276	HP:0000979	Purpura	2	GP1BB CL E G H	2812	4440	ORPHA:274	Bernard-Soulier syndrome		8
HP:0011276	HP:0000979	Purpura	2	GP1BB CL E G H	2812	4440	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		8
HP:0011276	HP:0000979	Purpura	2	GP1BB CL E G H	2812	4440	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040282 - Frequent	8
HP:0011276	HP:0007420	Spontaneous hematomas	2	GP1BB CL E G H	2812	4440	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040282 - Frequent	8
HP:0011276	HP:0000978	Bruising susceptibility	2	GP6 CL E G H	51206	14388	OMIM:614201	Bleeding disorder, platelet-type, 11	.	24
HP:0011276	HP:0000979	Purpura	2	GP6 CL E G H	51206	14388	OMIM:614201	Bleeding disorder, platelet-type, 11		24
HP:0011276	HP:0000978	Bruising susceptibility	2	GP9 CL E G H	2815	4444	ORPHA:274	Bernard-Soulier syndrome	HP:0040283 - Occasional	21
HP:0011276	HP:0007420	Spontaneous hematomas	2	GP9 CL E G H	2815	4444	ORPHA:274	Bernard-Soulier syndrome	HP:0040282 - Frequent	21
HP:0011276	HP:0000979	Purpura	2	GP9 CL E G H	2815	4444	ORPHA:274	Bernard-Soulier syndrome		21
HP:0011276	HP:0000979	Purpura	2	GP9 CL E G H	2815	4444	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		21
HP:0011276	HP:0100585	Telangiectasia of the skin	2	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis		2
HP:0011276	HP:0001015	Prominent superficial veins	2	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis		2
HP:0011276	HP:0000978	Bruising susceptibility	2	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis	HP:0040282 - Frequent	53
HP:0011276	HP:0000978	Bruising susceptibility	2	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040282 - Frequent	200
HP:0011276	HP:0000978	Bruising susceptibility	2	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040282 - Frequent	88
HP:0011276	HP:0000978	Bruising susceptibility	2	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional
HP:0011276	HP:0000979	Purpura	2	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	3
HP:0011276	HP:0000979	Purpura	2	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional
HP:0011276	HP:0000979	Purpura	2	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional	1
HP:0011276	HP:0100585	Telangiectasia of the skin	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent	2
HP:0011276	HP:0100585	Telangiectasia of the skin	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040282 - Frequent	2
HP:0011276	HP:0100579	Mucosal telangiectasiae	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040282 - Frequent	2
HP:0011276	HP:0000979	Purpura	2	HOXA11 CL E G H	3207	5101	OMIM:605432	Radioulnar synostosis with amegakaryocytic thrombocytopenia	.	3
HP:0011276	HP:0000979	Purpura	2	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1		121
HP:0011276	HP:0000978	Bruising susceptibility	2	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1	.	121
HP:0011276	HP:0000978	Bruising susceptibility	2	HPS3 CL E G H	84343	15597	OMIM:614072	Hermansky-Pudlak syndrome 3	.	67
HP:0011276	HP:0000978	Bruising susceptibility	2	HPS4 CL E G H	89781	15844	OMIM:614073	Hermansky-Pudlak syndrome 4	.	123
HP:0011276	HP:0000978	Bruising susceptibility	2	HPS5 CL E G H	11234	17022	OMIM:614074	Hermansky-Pudlak syndrome 5	.	105
HP:0011276	HP:0000979	Purpura	2	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6		45
HP:0011276	HP:0000978	Bruising susceptibility	2	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6	.	45
HP:0011276	HP:0100585	Telangiectasia of the skin	2	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia		25
HP:0011276	HP:0000979	Purpura	2	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	32
HP:0011276	HP:0000979	Purpura	2	IFNG CL E G H	3458	5438	ORPHA:88	Idiopathic aplastic anemia		23
HP:0011276	HP:0100585	Telangiectasia of the skin	2	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040281 - Very frequent	52
HP:0011276	HP:0410134	Physical urticaria	2	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis
HP:0011276	HP:0410134	Physical urticaria	2	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis		46
HP:0011276	HP:0100585	Telangiectasia of the skin	2	IL7 CL E G H	3574	6023	ORPHA:302	Epidermodysplasia verruciformis	HP:0040283 - Occasional
HP:0011276	HP:0000978	Bruising susceptibility	2	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome	HP:0040283 - Occasional
HP:0011276	HP:0000978	Bruising susceptibility	2	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0011276	HP:0000979	Purpura	2	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	4
HP:0011276	HP:0000978	Bruising susceptibility	2	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	4
HP:0011276	HP:0000979	Purpura	2	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	4
HP:0011276	HP:0100585	Telangiectasia of the skin	2	IRF5 CL E G H	3663	6120	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent	4
HP:0011276	HP:0100579	Mucosal telangiectasiae	2	IRF5 CL E G H	3663	6120	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040282 - Frequent	4
HP:0011276	HP:0100585	Telangiectasia of the skin	2	IRF5 CL E G H	3663	6120	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040282 - Frequent	4
HP:0011276	HP:0410134	Physical urticaria	2	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis		4
HP:0011276	HP:0007420	Spontaneous hematomas	2	ITGA2 CL E G H	3673	6137	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040282 - Frequent	119
HP:0011276	HP:0000979	Purpura	2	ITGA2 CL E G H	3673	6137	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040282 - Frequent	119
HP:0011276	HP:0000979	Purpura	2	ITGA2B CL E G H	3674	6138	OMIM:187800	Bleeding disorder, platelet-type, 16		69
HP:0011276	HP:0000979	Purpura	2	ITGA2B CL E G H	3674	6138	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040282 - Frequent	69
HP:0011276	HP:0007420	Spontaneous hematomas	2	ITGA2B CL E G H	3674	6138	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040282 - Frequent	69
HP:0011276	HP:0000979	Purpura	2	ITGA2B CL E G H	3674	6138	ORPHA:849	Glanzmann thrombasthenia	HP:0040283 - Occasional	69
HP:0011276	HP:0000978	Bruising susceptibility	2	ITGA2B CL E G H	3674	6138	OMIM:273800	Glanzmann thrombasthenia	.	69
HP:0011276	HP:0007420	Spontaneous hematomas	2	ITGA2B CL E G H	3674	6138	ORPHA:849	Glanzmann thrombasthenia	HP:0040283 - Occasional	69
HP:0011276	HP:0000978	Bruising susceptibility	2	ITGA2B CL E G H	3674	6138	ORPHA:849	Glanzmann thrombasthenia	HP:0040282 - Frequent	69
HP:0011276	HP:0000979	Purpura	2	ITGA2B CL E G H	3674	6138	OMIM:273800	Glanzmann thrombasthenia	.	69
HP:0011276	HP:0000979	Purpura	2	ITGB3 CL E G H	3690	6156	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040282 - Frequent	80
HP:0011276	HP:0007420	Spontaneous hematomas	2	ITGB3 CL E G H	3690	6156	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040282 - Frequent	80
HP:0011276	HP:0000978	Bruising susceptibility	2	ITGB3 CL E G H	3690	6156	ORPHA:849	Glanzmann thrombasthenia	HP:0040282 - Frequent	80
HP:0011276	HP:0000979	Purpura	2	ITGB3 CL E G H	3690	6156	ORPHA:849	Glanzmann thrombasthenia	HP:0040283 - Occasional	80
HP:0011276	HP:0007420	Spontaneous hematomas	2	ITGB3 CL E G H	3690	6156	ORPHA:849	Glanzmann thrombasthenia	HP:0040283 - Occasional	80
HP:0011276	HP:0000978	Bruising susceptibility	2	ITGB3 CL E G H	3690	6156	OMIM:619267	GLANZMANN THROMBASTHENIA 2; GT2		80
HP:0011276	HP:0000979	Purpura	2	JAK2 CL E G H	3717	6192	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included		57
HP:0011276	HP:0000978	Bruising susceptibility	2	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera	HP:0040281 - Very frequent	57
HP:0011276	HP:0000979	Purpura	2	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	57
HP:0011276	HP:0000979	Purpura	2	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	2
HP:0011276	HP:0001041	Facial erythema	2	KCNQ2 CL E G H	3785	6296	ORPHA:439218	KCNQ2-related epileptic encephalopathy	HP:0040282 - Frequent	528
HP:0011276	HP:0100585	Telangiectasia of the skin	2	KIAA0319L CL E G H	79932	30071	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040282 - Frequent
HP:0011276	HP:0100579	Mucosal telangiectasiae	2	KIAA0319L CL E G H	79932	30071	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040282 - Frequent
HP:0011276	HP:0100585	Telangiectasia of the skin	2	KIT CL E G H	3815	6342	ORPHA:79455	Cutaneous mastocytoma		327
HP:0011276	HP:0007583	Telangiectasia macularis eruptiva perstans	2	KIT CL E G H	3815	6342	ORPHA:79455	Cutaneous mastocytoma		327
HP:0011276	HP:0025081	Darier's sign	2	KIT CL E G H	3815	6342	ORPHA:79455	Cutaneous mastocytoma		327
HP:0011276	HP:0410134	Physical urticaria	2	KIT CL E G H	3815	6342	ORPHA:79455	Cutaneous mastocytoma		327
HP:0011276	HP:0007583	Telangiectasia macularis eruptiva perstans	2	KIT CL E G H	3815	6342	OMIM:154800	Mastocytosis, cutaneous	.	327
HP:0011276	HP:0100579	Mucosal telangiectasiae	2	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	1
HP:0011276	HP:0000978	Bruising susceptibility	2	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3		196
HP:0011276	HP:0031180	Erythema migrans	2	KRT5 CL E G H	3852	6442	ORPHA:158681	Epidermolysis bullosa simplex with circinate migratory erythema	HP:0040282 - Frequent	173
HP:0011276	HP:0031180	Erythema migrans	2	KRT5 CL E G H	3852	6442	OMIM:609352	EPIDERMOLYSIS BULLOSA SIMPLEX WITH MIGRATORY CIRCINATE ERYTHEMA		173
HP:0011276	HP:0100585	Telangiectasia of the skin	2	LBR CL E G H	3930	6518	OMIM:613471	Reynolds syndrome		70
HP:0011276	HP:0100585	Telangiectasia of the skin	2	LBR CL E G H	3930	6518	ORPHA:779	Reynolds syndrome	HP:0040282 - Frequent	70
HP:0011276	HP:0100579	Mucosal telangiectasiae	2	LBR CL E G H	3930	6518	OMIM:613471	Reynolds syndrome		70
HP:0011276	HP:0100579	Mucosal telangiectasiae	2	LBR CL E G H	3930	6518	ORPHA:779	Reynolds syndrome	HP:0040282 - Frequent	70
HP:0011276	HP:0000979	Purpura	2	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0011276	HP:0001015	Prominent superficial veins	2	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS		1
HP:0011276	HP:0100579	Mucosal telangiectasiae	2	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0011276	HP:0100585	Telangiectasia of the skin	2	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome	HP:0040283 - Occasional	88
HP:0011276	HP:0000978	Bruising susceptibility	2	LMAN1 CL E G H	3998	6631	ORPHA:35909	Combined deficiency of factor V and factor VIII	HP:0040282 - Frequent	56
HP:0011276	HP:0100585	Telangiectasia of the skin	2	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent	645
HP:0011276	HP:0001015	Prominent superficial veins	2	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent	645
HP:0011276	HP:0001015	Prominent superficial veins	2	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2	.	645
HP:0011276	HP:0000978	Bruising susceptibility	2	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	6
HP:0011276	HP:0007763	Retinal telangiectasia	2	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy		125
HP:0011276	HP:0000978	Bruising susceptibility	2	LYST CL E G H	1130	1968	ORPHA:352723	Attenuated Chédiak-Higashi syndrome	HP:0040281 - Very frequent	239
HP:0011276	HP:0000978	Bruising susceptibility	2	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040282 - Frequent	239
HP:0011276	HP:0000978	Bruising susceptibility	2	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome		239
HP:0011276	HP:0000978	Bruising susceptibility	2	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1		134
HP:0011276	HP:0000978	Bruising susceptibility	2	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0011276	HP:0100579	Mucosal telangiectasiae	2	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1		21
HP:0011276	HP:0000978	Bruising susceptibility	2	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	13
HP:0011276	HP:0001041	Facial erythema	2	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked	.	22
HP:0011276	HP:0000978	Bruising susceptibility	2	MCFD2 CL E G H	90411	18451	ORPHA:35909	Combined deficiency of factor V and factor VIII	HP:0040282 - Frequent	77
HP:0011276	HP:0000978	Bruising susceptibility	2	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	11
HP:0011276	HP:0410134	Physical urticaria	2	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis
HP:0011276	HP:0000979	Purpura	2	MPL CL E G H	4352	7217	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included		97
HP:0011276	HP:0000978	Bruising susceptibility	2	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera	HP:0040281 - Very frequent	97
HP:0011276	HP:0000979	Purpura	2	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	97
HP:0011276	HP:0000979	Purpura	2	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	1
HP:0011276	HP:0001015	Prominent superficial veins	2	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis		1
HP:0011276	HP:0100585	Telangiectasia of the skin	2	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis		1
HP:0011276	HP:0000978	Bruising susceptibility	2	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma	HP:0040283 - Occasional	85
HP:0011276	HP:0000979	Purpura	2	MVK CL E G H	4598	7530	ORPHA:343	Hyperimmunoglobulinemia D with periodic fever	HP:0040283 - Occasional	150
HP:0011276	HP:0000979	Purpura	2	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia	HP:0040283 - Occasional	9
HP:0011276	HP:0033505	Livedo reticularis	2	MYH11 CL E G H	4629	7569	OMIM:132900	Aortic aneurysm, familial thoracic 4		418
HP:0011276	HP:0000978	Bruising susceptibility	2	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	418
HP:0011276	HP:0000978	Bruising susceptibility	2	MYH9 CL E G H	4627	7579	OMIM:155100	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	.	297
HP:0011276	HP:0000978	Bruising susceptibility	2	MYH9 CL E G H	4627	7579	ORPHA:182050	MYH9-related disease	HP:0040282 - Frequent	297
HP:0011276	HP:0000978	Bruising susceptibility	2	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	326
HP:0011276	HP:0000979	Purpura	2	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0011276	HP:0000978	Bruising susceptibility	2	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0011276	HP:0100585	Telangiectasia of the skin	2	NAGA CL E G H	4668	7631	ORPHA:79279	Alpha-N-acetylgalactosaminidase deficiency type 1	HP:0040282 - Frequent	47
HP:0011276	HP:0100585	Telangiectasia of the skin	2	NAGA CL E G H	4668	7631	ORPHA:79280	Alpha-N-acetylgalactosaminidase deficiency type 2	HP:0040281 - Very frequent	47
HP:0011276	HP:0100579	Mucosal telangiectasiae	2	NAGA CL E G H	4668	7631	ORPHA:79280	Alpha-N-acetylgalactosaminidase deficiency type 2		47
HP:0011276	HP:0001071	Angiokeratoma corporis diffusum	2	NAGA CL E G H	4668	7631	ORPHA:79280	Alpha-N-acetylgalactosaminidase deficiency type 2	HP:0040281 - Very frequent	47
HP:0011276	HP:0100579	Mucosal telangiectasiae	2	NAGA CL E G H	4668	7631	OMIM:609242	Kanzaki disease		47
HP:0011276	HP:0001071	Angiokeratoma corporis diffusum	2	NAGA CL E G H	4668	7631	OMIM:609242	Kanzaki disease	.	47
HP:0011276	HP:0000978	Bruising susceptibility	2	NBEAL2 CL E G H	23218	31928	OMIM:139090	Gray platelet syndrome	.	127
HP:0011276	HP:0000978	Bruising susceptibility	2	NBEAL2 CL E G H	23218	31928	ORPHA:721	Gray platelet syndrome	HP:0040281 - Very frequent	127
HP:0011276	HP:0007763	Retinal telangiectasia	2	ND1 CL E G H	4535	7455	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0011276	HP:0007763	Retinal telangiectasia	2	ND2 CL E G H	4536	7456	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0011276	HP:0007763	Retinal telangiectasia	2	ND4 CL E G H	4538	7459	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0011276	HP:0007763	Retinal telangiectasia	2	ND4L CL E G H	4539	7460	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0011276	HP:0007763	Retinal telangiectasia	2	ND5 CL E G H	4540	7461	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0011276	HP:0007763	Retinal telangiectasia	2	ND6 CL E G H	4541	7462	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0011276	HP:0007763	Retinal telangiectasia	2	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy		39
HP:0011276	HP:0007763	Retinal telangiectasia	2	NDUFS2 CL E G H	4720	7708	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent	65
HP:0011276	HP:0000979	Purpura	2	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2		43
HP:0011276	HP:0100585	Telangiectasia of the skin	2	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040282 - Frequent	1952
HP:0011276	HP:0000978	Bruising susceptibility	2	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome	HP:0040282 - Frequent	40
HP:0011276	HP:0000979	Purpura	2	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	7
HP:0011276	HP:0000979	Purpura	2	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	11
HP:0011276	HP:0100585	Telangiectasia of the skin	2	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	27
HP:0011276	HP:0000979	Purpura	2	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome	HP:0040283 - Occasional	217
HP:0011276	HP:0100585	Telangiectasia of the skin	2	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	17
HP:0011276	HP:0000978	Bruising susceptibility	2	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	12
HP:0011276	HP:0000979	Purpura	2	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	12
HP:0011276	HP:0100585	Telangiectasia of the skin	2	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	12
HP:0011276	HP:0000979	Purpura	2	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0011276	HP:0000978	Bruising susceptibility	2	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease	HP:0040282 - Frequent	79
HP:0011276	HP:0000978	Bruising susceptibility	2	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4	HP:0040283 - Occasional	97
HP:0011276	HP:0000978	Bruising susceptibility	2	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0011276	HP:0000979	Purpura	2	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0011276	HP:0000979	Purpura	2	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria		23
HP:0011276	HP:0000979	Purpura	2	ORAI1 CL E G H	84876	25896	ORPHA:3204	Stormorken-Sjaastad-Langslet syndrome	HP:0040281 - Very frequent	19
HP:0011276	HP:0000979	Purpura	2	P2RY12 CL E G H	64805	18124	OMIM:609821	Bleeding disorder, platelet-type, 8		5
HP:0011276	HP:0000978	Bruising susceptibility	2	P2RY12 CL E G H	64805	18124	OMIM:609821	Bleeding disorder, platelet-type, 8		5
HP:0011276	HP:0100585	Telangiectasia of the skin	2	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	26
HP:0011276	HP:0100579	Mucosal telangiectasiae	2	PCNA CL E G H	5111	8729	OMIM:615919	Ataxia-Telangiectasia-Like disorder 2		1
HP:0011276	HP:0100585	Telangiectasia of the skin	2	PCNA CL E G H	5111	8729	ORPHA:438134	PCNA-related progressive neurodegenerative photosensitivity syndrome	HP:0040281 - Very frequent	1
HP:0011276	HP:0007763	Retinal telangiectasia	2	PCNA CL E G H	5111	8729	ORPHA:438134	PCNA-related progressive neurodegenerative photosensitivity syndrome	HP:0040282 - Frequent	1
HP:0011276	HP:0000978	Bruising susceptibility	2	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0011276	HP:0000978	Bruising susceptibility	2	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2	.	13
HP:0011276	HP:0000978	Bruising susceptibility	2	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease		13
HP:0011276	HP:0000978	Bruising susceptibility	2	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease		75
HP:0011276	HP:0007489	Diffuse telangiectasia	2	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency	.	66
HP:0011276	HP:0000979	Purpura	2	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency		66
HP:0011276	HP:0100579	Mucosal telangiectasiae	2	PEX6 CL E G H	5190	8859	ORPHA:95433	Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome		98
HP:0011276	HP:0100579	Mucosal telangiectasiae	2	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	162
HP:0011276	HP:0100585	Telangiectasia of the skin	2	PIK3CA CL E G H	5290	8975	ORPHA:276280	Hemihyperplasia-multiple lipomatosis syndrome	HP:0040283 - Occasional	162
HP:0011276	HP:0100585	Telangiectasia of the skin	2	PIK3CA CL E G H	5290	8975	ORPHA:60040	Megalencephaly-capillary malformation-polymicrogyria syndrome	HP:0040281 - Very frequent	162
HP:0011276	HP:0000978	Bruising susceptibility	2	PLAU CL E G H	5328	9052	OMIM:601709	Quebec platelet disorder	.	50
HP:0011276	HP:0410134	Physical urticaria	2	PLCG2 CL E G H	5336	9066	OMIM:614468	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3		21
HP:0011276	HP:0000978	Bruising susceptibility	2	PLEC CL E G H	5339	9069	OMIM:131950	Epidermolysis bullosa simplex, Ogna type	.	759
HP:0011276	HP:0000978	Bruising susceptibility	2	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1		105
HP:0011276	HP:0000978	Bruising susceptibility	2	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:0011276	HP:0000978	Bruising susceptibility	2	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness	.	5
HP:0011276	HP:0000979	Purpura	2	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	3
HP:0011276	HP:0000978	Bruising susceptibility	2	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	3
HP:0011276	HP:0100585	Telangiectasia of the skin	2	POLE CL E G H	5426	9177	OMIM:615139	Facial dysmorphism, immunodeficiency, livedo, and short stature		1129
HP:0011276	HP:0001015	Prominent superficial veins	2	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0011276	HP:0001015	Prominent superficial veins	2	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0011276	HP:0100585	Telangiectasia of the skin	2	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040281 - Very frequent	20
HP:0011276	HP:0410134	Physical urticaria	2	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis
HP:0011276	HP:0001015	Prominent superficial veins	2	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	42
HP:0011276	HP:0001015	Prominent superficial veins	2	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3	.	42
HP:0011276	HP:0001015	Prominent superficial veins	2	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy		42
HP:0011276	HP:0001015	Prominent superficial veins	2	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2	HP:0040283 - Occasional	2
HP:0011276	HP:0000978	Bruising susceptibility	2	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome	HP:0040282 - Frequent	58
HP:0011276	HP:0000979	Purpura	2	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	58
HP:0011276	HP:0000978	Bruising susceptibility	2	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040283 - Occasional	58
HP:0011276	HP:0000979	Purpura	2	PRF1 CL E G H	5551	9360	ORPHA:88	Idiopathic aplastic anemia		58
HP:0011276	HP:0000978	Bruising susceptibility	2	PRKACA CL E G H	5566	9380	OMIM:615830	Pigmented nodular adrenocortical disease, primary, 4	.	2
HP:0011276	HP:0000978	Bruising susceptibility	2	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease		2
HP:0011276	HP:0007420	Spontaneous hematomas	2	PRKACG CL E G H	5568	9382	OMIM:616176	Bleeding disorder, platelet-type, 19	.	2
HP:0011276	HP:0000979	Purpura	2	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	134
HP:0011276	HP:0000978	Bruising susceptibility	2	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	134
HP:0011276	HP:0000978	Bruising susceptibility	2	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0011276	HP:0000978	Bruising susceptibility	2	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1	.	134
HP:0011276	HP:0000978	Bruising susceptibility	2	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease		134
HP:0011276	HP:0000978	Bruising susceptibility	2	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	10
HP:0011276	HP:0000979	Purpura	2	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	10
HP:0011276	HP:0000978	Bruising susceptibility	2	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	41
HP:0011276	HP:0000979	Purpura	2	PROC CL E G H	5624	9451	ORPHA:745	Severe hereditary thrombophilia due to congenital protein C deficiency	HP:0040282 - Frequent	65
HP:0011276	HP:0000979	Purpura	2	PROC CL E G H	5624	9451	OMIM:612304	Thrombophilia due to protein C deficiency, autosomal recessive	.	65
HP:0011276	HP:0000979	Purpura	2	PROS1 CL E G H	5627	9456	ORPHA:743	Severe hereditary thrombophilia due to congenital protein S deficiency	HP:0040281 - Very frequent	75
HP:0011276	HP:0000979	Purpura	2	PROS1 CL E G H	5627	9456	OMIM:614514	Thrombophilia due to protein S deficiency, autosomal recessive	.	75
HP:0011276	HP:0000979	Purpura	2	PROS1 CL E G H	5627	9456	OMIM:612336	Thrombophilia, hereditary, due to protein S deficiency, autosomal	.	75
HP:0011276	HP:0000979	Purpura	2	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional
HP:0011276	HP:0001015	Prominent superficial veins	2	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism		6
HP:0011276	HP:0100579	Mucosal telangiectasiae	2	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	948
HP:0011276	HP:0000978	Bruising susceptibility	2	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1		291
HP:0011276	HP:0000979	Purpura	2	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional	3
HP:0011276	HP:0000978	Bruising susceptibility	2	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB		53
HP:0011276	HP:0001015	Prominent superficial veins	2	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB	.	53
HP:0011276	HP:0001015	Prominent superficial veins	2	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB		53
HP:0011276	HP:0000979	Purpura	2	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2		67
HP:0011276	HP:0000978	Bruising susceptibility	2	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	2
HP:0011276	HP:0000979	Purpura	2	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	2
HP:0011276	HP:0000978	Bruising susceptibility	2	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent
HP:0011276	HP:0001041	Facial erythema	2	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2	HP:0040282 - Frequent	445
HP:0011276	HP:0001041	Facial erythema	2	RHOH CL E G H	399	686	OMIM:618307	Epidermodysplasia verruciformis, susceptibility to, 4	.
HP:0011276	HP:0000978	Bruising susceptibility	2	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome	.	43
HP:0011276	HP:0000978	Bruising susceptibility	2	RIN2 CL E G H	54453	18750	ORPHA:217335	RIN2 syndrome	HP:0040282 - Frequent	43
HP:0011276	HP:0100579	Mucosal telangiectasiae	2	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome		7
HP:0011276	HP:0000979	Purpura	2	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0011276	HP:0100585	Telangiectasia of the skin	2	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	77
HP:0011276	HP:0000978	Bruising susceptibility	2	RUNX1 CL E G H	861	10471	OMIM:601399	Platelet disorder, familial, with associated myeloid malignancy	.	181
HP:0011276	HP:0000979	Purpura	2	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome		8
HP:0011276	HP:0000979	Purpura	2	SBDS CL E G H	51119	19440	ORPHA:88	Idiopathic aplastic anemia		26
HP:0011276	HP:0000978	Bruising susceptibility	2	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1	HP:0040282 - Frequent	77
HP:0011276	HP:0100579	Mucosal telangiectasiae	2	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	237
HP:0011276	HP:0100579	Mucosal telangiectasiae	2	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	147
HP:0011276	HP:0100585	Telangiectasia of the skin	2	SDHD CL E G H	6392	10683	ORPHA:100093	Carcinoid syndrome		129
HP:0011276	HP:0100579	Mucosal telangiectasiae	2	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	129
HP:0011276	HP:0100579	Mucosal telangiectasiae	2	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	60
HP:0011276	HP:0000979	Purpura	2	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0011276	HP:0001015	Prominent superficial veins	2	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0011276	HP:0100585	Telangiectasia of the skin	2	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0011276	HP:0000978	Bruising susceptibility	2	SERPINF2 CL E G H	5345	9075	ORPHA:79	Congenital alpha2-antiplasmin deficiency	HP:0040283 - Occasional	8
HP:0011276	HP:0000978	Bruising susceptibility	2	SERPINF2 CL E G H	5345	9075	OMIM:262850	Plasmin inhibitor deficiency	.	8
HP:0011276	HP:0410134	Physical urticaria	2	SERPING1 CL E G H	710	1228	ORPHA:100050	Hereditary angioedema type 1		64
HP:0011276	HP:0100579	Mucosal telangiectasiae	2	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1		162
HP:0011276	HP:0000979	Purpura	2	SH2B3 CL E G H	10019	29605	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included		4
HP:0011276	HP:0000978	Bruising susceptibility	2	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type	.
HP:0011276	HP:0001015	Prominent superficial veins	2	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0011276	HP:0410134	Physical urticaria	2	SLC27A4 CL E G H	10999	10998	OMIM:608649	ICHTHYOSIS PREMATURITY SYNDROME; IPS		26
HP:0011276	HP:0100585	Telangiectasia of the skin	2	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome		68
HP:0011276	HP:0100585	Telangiectasia of the skin	2	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0011276	HP:0000978	Bruising susceptibility	2	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome	.	178
HP:0011276	HP:0100585	Telangiectasia of the skin	2	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome		178
HP:0011276	HP:0100585	Telangiectasia of the skin	2	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040281 - Very frequent	178
HP:0011276	HP:0000978	Bruising susceptibility	2	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:0011276	HP:0100585	Telangiectasia of the skin	2	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic		110
HP:0011276	HP:0001015	Prominent superficial veins	2	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3	.	24
HP:0011276	HP:0000978	Bruising susceptibility	2	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3	.	24
HP:0011276	HP:0000978	Bruising susceptibility	2	SLC39A13 CL E G H	91252	20859	ORPHA:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040281 - Very frequent	24
HP:0011276	HP:0033195	Perianal erythema	2	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type		55
HP:0011276	HP:0033194	Perioral erythema	2	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type		55
HP:0011276	HP:0000978	Bruising susceptibility	2	SLC51A CL E G H	200931	29955	OMIM:619484	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6; PFIC6
HP:0011276	HP:0000978	Bruising susceptibility	2	SLFN14 CL E G H	342618	32689	OMIM:616913	Bleeding disorder, platelet-type, 20	.	6
HP:0011276	HP:0033194	Perioral erythema	2	SLURP1 CL E G H	57152	18746	OMIM:248300	Meleda disease		15
HP:0011276	HP:0000978	Bruising susceptibility	2	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	7
HP:0011276	HP:0000978	Bruising susceptibility	2	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome	HP:0040282 - Frequent	260
HP:0011276	HP:0000978	Bruising susceptibility	2	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	260
HP:0011276	HP:0000978	Bruising susceptibility	2	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0011276	HP:0000978	Bruising susceptibility	2	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	504
HP:0011276	HP:0007420	Spontaneous hematomas	2	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040282 - Frequent	504
HP:0011276	HP:0007763	Retinal telangiectasia	2	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	504
HP:0011276	HP:0100579	Mucosal telangiectasiae	2	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040281 - Very frequent	504
HP:0011276	HP:0100585	Telangiectasia of the skin	2	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040281 - Very frequent	504
HP:0011276	HP:0000978	Bruising susceptibility	2	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040283 - Occasional	2
HP:0011276	HP:0000978	Bruising susceptibility	2	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4		315
HP:0011276	HP:0100585	Telangiectasia of the skin	2	SOX18 CL E G H	54345	11194	OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia syndrome		7
HP:0011276	HP:0100585	Telangiectasia of the skin	2	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome		7
HP:0011276	HP:0100585	Telangiectasia of the skin	2	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome		7
HP:0011276	HP:0410134	Physical urticaria	2	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis
HP:0011276	HP:0000978	Bruising susceptibility	2	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0011276	HP:0033194	Perioral erythema	2	SREBF1 CL E G H	6720	11289	OMIM:619016	IFAP SYNDROME 2; IFAP2		1
HP:0011276	HP:0000978	Bruising susceptibility	2	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	110
HP:0011276	HP:0000979	Purpura	2	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	110
HP:0011276	HP:0000978	Bruising susceptibility	2	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	12
HP:0011276	HP:0000979	Purpura	2	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	12
HP:0011276	HP:0000979	Purpura	2	STIM1 CL E G H	6786	11386	ORPHA:3204	Stormorken-Sjaastad-Langslet syndrome	HP:0040281 - Very frequent	31
HP:0011276	HP:0033505	Livedo reticularis	2	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0011276	HP:0007763	Retinal telangiectasia	2	STN1 CL E G H	79991	26200	OMIM:617341	Cerebroretinal microangiopathy with calcifications and cysts 2	.	2
HP:0011276	HP:0000979	Purpura	2	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	85
HP:0011276	HP:0000978	Bruising susceptibility	2	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040283 - Occasional	85
HP:0011276	HP:0000979	Purpura	2	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	70
HP:0011276	HP:0000978	Bruising susceptibility	2	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040283 - Occasional	70
HP:0011276	HP:0410134	Physical urticaria	2	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0011276	HP:0000978	Bruising susceptibility	2	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	22
HP:0011276	HP:0000979	Purpura	2	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	22
HP:0011276	HP:0000979	Purpura	2	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	32
HP:0011276	HP:0000978	Bruising susceptibility	2	TBXA2R CL E G H	6915	11608	OMIM:614009	BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO; BDPLT13		10
HP:0011276	HP:0000979	Purpura	2	TBXA2R CL E G H	6915	11608	OMIM:614009	BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO; BDPLT13		10
HP:0011276	HP:0001015	Prominent superficial veins	2	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis		241
HP:0011276	HP:0100585	Telangiectasia of the skin	2	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis		241
HP:0011276	HP:0000978	Bruising susceptibility	2	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040283 - Occasional	82
HP:0011276	HP:0100585	Telangiectasia of the skin	2	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	48
HP:0011276	HP:0000979	Purpura	2	TERC CL E G H	7012	11727	ORPHA:88	Idiopathic aplastic anemia		48
HP:0011276	HP:0100585	Telangiectasia of the skin	2	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	238
HP:0011276	HP:0000979	Purpura	2	TERT CL E G H	7015	11730	ORPHA:88	Idiopathic aplastic anemia		238
HP:0011276	HP:0000978	Bruising susceptibility	2	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera	HP:0040281 - Very frequent	3
HP:0011276	HP:0000979	Purpura	2	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	3
HP:0011276	HP:0000979	Purpura	2	TFR2 CL E G H	7036	11762	OMIM:604250	Hemochromatosis, type 3	.	67
HP:0011276	HP:0000978	Bruising susceptibility	2	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	162
HP:0011276	HP:0000978	Bruising susceptibility	2	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4		162
HP:0011276	HP:0000978	Bruising susceptibility	2	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	85
HP:0011276	HP:0000978	Bruising susceptibility	2	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0011276	HP:0000978	Bruising susceptibility	2	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	239
HP:0011276	HP:0000978	Bruising susceptibility	2	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome	HP:0040283 - Occasional	239
HP:0011276	HP:0000978	Bruising susceptibility	2	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	253
HP:0011276	HP:0000978	Bruising susceptibility	2	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome	HP:0040283 - Occasional	253
HP:0011276	HP:0100585	Telangiectasia of the skin	2	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	60
HP:0011276	HP:0100585	Telangiectasia of the skin	2	TMC6 CL E G H	11322	18021	ORPHA:302	Epidermodysplasia verruciformis	HP:0040283 - Occasional	10
HP:0011276	HP:0100585	Telangiectasia of the skin	2	TMC8 CL E G H	147138	20474	ORPHA:302	Epidermodysplasia verruciformis	HP:0040283 - Occasional	4
HP:0011276	HP:0000979	Purpura	2	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	32
HP:0011276	HP:0000979	Purpura	2	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	12
HP:0011276	HP:0000978	Bruising susceptibility	2	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome	HP:0040283 - Occasional	131
HP:0011276	HP:0000978	Bruising susceptibility	2	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040283 - Occasional	44
HP:0011276	HP:0000979	Purpura	2	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	1
HP:0011276	HP:0410134	Physical urticaria	2	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis
HP:0011276	HP:0410134	Physical urticaria	2	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis		71
HP:0011276	HP:0000978	Bruising susceptibility	2	TNXB CL E G H	7148	11976	ORPHA:230839	Classical-like Ehlers-Danlos syndrome type 1	HP:0040282 - Frequent	134
HP:0011276	HP:0000978	Bruising susceptibility	2	TNXB CL E G H	7148	11976	OMIM:606408	Ehlers-Danlos syndrome, classic-like	.	134
HP:0011276	HP:0000978	Bruising susceptibility	2	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease	HP:0040282 - Frequent	911
HP:0011276	HP:0000979	Purpura	2	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0011276	HP:0000979	Purpura	2	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1	.	56
HP:0011276	HP:0200030	Punctate vasculitis skin lesions	2	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	HP:0040284 - Very rare	56
HP:0011276	HP:0200030	Punctate vasculitis skin lesions	2	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy	.	56
HP:0011276	HP:0007763	Retinal telangiectasia	2	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy		39
HP:0011276	HP:0100585	Telangiectasia of the skin	2	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	1
HP:0011276	HP:0000979	Purpura	2	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0011276	HP:0000978	Bruising susceptibility	2	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040283 - Occasional	116
HP:0011276	HP:0000979	Purpura	2	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	116
HP:0011276	HP:0100585	Telangiectasia of the skin	2	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	8
HP:0011276	HP:0100579	Mucosal telangiectasiae	2	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	1
HP:0011276	HP:0000979	Purpura	2	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2		2
HP:0011276	HP:0000978	Bruising susceptibility	2	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease	HP:0040282 - Frequent	1
HP:0011276	HP:0000979	Purpura	2	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0011276	HP:0000978	Bruising susceptibility	2	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease	HP:0040282 - Frequent	7
HP:0011276	HP:0000979	Purpura	2	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0011276	HP:0000979	Purpura	2	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.	7
HP:0011276	HP:0001041	Facial erythema	2	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.	7
HP:0011276	HP:0000978	Bruising susceptibility	2	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.	7
HP:0011276	HP:0100585	Telangiectasia of the skin	2	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E		26
HP:0011276	HP:0000978	Bruising susceptibility	2	VWF CL E G H	7450	12726	OMIM:193400	Von willebrand disease, type 1		533
HP:0011276	HP:0000978	Bruising susceptibility	2	VWF CL E G H	7450	12726	OMIM:613554	Von willebrand disease, type 2	.	533
HP:0011276	HP:0000978	Bruising susceptibility	2	VWF CL E G H	7450	12726	OMIM:277480	Von willebrand disease, type 3	.	533
HP:0011276	HP:0000978	Bruising susceptibility	2	WAS CL E G H	7454	12731	OMIM:313900	Thrombocytopenia 1	.	65
HP:0011276	HP:0000979	Purpura	2	WAS CL E G H	7454	12731	OMIM:313900	Thrombocytopenia 1		65
HP:0011276	HP:0000979	Purpura	2	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome	.	65
HP:0011276	HP:0000978	Bruising susceptibility	2	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040281 - Very frequent	65
HP:0011276	HP:0000979	Purpura	2	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040282 - Frequent	65
HP:0011276	HP:0007420	Spontaneous hematomas	2	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040281 - Very frequent	65
HP:0011276	HP:0007420	Spontaneous hematomas	2	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040281 - Very frequent	6
HP:0011276	HP:0000979	Purpura	2	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040282 - Frequent	6
HP:0011276	HP:0000978	Bruising susceptibility	2	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040281 - Very frequent	6
HP:0011276	HP:0025493	Palmoplantar erythema	2	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia		71
HP:0011276	HP:0100585	Telangiectasia of the skin	2	WNT10A CL E G H	80326	13829	ORPHA:50944	Schöpf-Schulz-Passarge syndrome		71
HP:0011276	HP:0100585	Telangiectasia of the skin	2	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	40
HP:0011276	HP:0100585	Telangiectasia of the skin	2	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome	HP:0040282 - Frequent	310
HP:0011276	HP:0100579	Mucosal telangiectasiae	2	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum		34
HP:0011276	HP:0100585	Telangiectasia of the skin	2	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	34
HP:0011276	HP:0100585	Telangiectasia of the skin	2	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	86
HP:0011276	HP:0100579	Mucosal telangiectasiae	2	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum		86
HP:0011276	HP:0100585	Telangiectasia of the skin	2	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome	HP:0040283 - Occasional	9
HP:0011276	HP:0000978	Bruising susceptibility	2	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	1
HP:0011276	HP:0000979	Purpura	2	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	1
HP:0011276	HP:0001015	Prominent superficial veins	2	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy		83
HP:0011276	HP:0007763	Retinal telangiectasia	2	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy		14
HP:0011276	HP:0000978	Bruising susceptibility	2	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome	HP:0040282 - Frequent	397
HP:0011276	HP:0410138	Vibratory urticaria	3	CL E G H
HP:0011276	HP:0031363	Palpable purpura	3	CL E G H
HP:0011276	HP:0009893	Telangiectasia of the ear	3	CL E G H
HP:0011276	HP:0410137	Solar urticaria	3	CL E G H
HP:0011276	HP:0007586	Telangiectases producing 'marbled' skin	3	CL E G H
HP:0011276	HP:0410136	Aquagenic urticaria	3	CL E G H
HP:0011276	HP:0025555	Periungual teleangiectasia	3	CL E G H
HP:0011276	HP:0100885	Lateral venous anomaly	3	CL E G H
HP:0011276	HP:0033370	Bronchial telangiectasia	3	CL E G H
HP:0011276	HP:0000524	Conjunctival telangiectasia	3	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	178
HP:0011276	HP:0000228	Oral cavity telangiectasia	3	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2		178
HP:0011276	HP:0000524	Conjunctival telangiectasia	3	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.	178
HP:0011276	HP:0007380	Facial telangiectasia	3	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2		178
HP:0011276	HP:0100869	Palmar telangiectasia	3	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2		178
HP:0011276	HP:0006107	Fingerpad telangiectases	3	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.	178
HP:0011276	HP:0000434	Nasal mucosa telangiectasia	3	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.	178
HP:0011276	HP:0002604	Gastrointestinal telangiectasia	3	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.	178
HP:0011276	HP:0007457	Prominent veins on trunk	3	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040282 - Frequent
HP:0011276	HP:0031365	Macular purpura	3	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic		95
HP:0011276	HP:0001043	Prominent scalp veins	3	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome	.	8
HP:0011276	HP:0031365	Macular purpura	3	APOE CL E G H	348	613	ORPHA:158029	Sea-blue histiocytosis		39
HP:0011276	HP:0007380	Facial telangiectasia	3	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0011276	HP:0007380	Facial telangiectasia	3	ARX CL E G H	170302	18060	ORPHA:94083	Partington syndrome	HP:0040283 - Occasional	166
HP:0011276	HP:0000524	Conjunctival telangiectasia	3	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA	.	3267
HP:0011276	HP:0007457	Prominent veins on trunk	3	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	140
HP:0011276	HP:0007457	Prominent veins on trunk	3	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent	140
HP:0011276	HP:0007457	Prominent veins on trunk	3	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	3
HP:0011276	HP:0007457	Prominent veins on trunk	3	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	2
HP:0011276	HP:0007380	Facial telangiectasia	3	ATR CL E G H	545	882	OMIM:614564	Cutaneous telangiectasia and cancer syndrome, familial		168
HP:0011276	HP:0031365	Macular purpura	3	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0011276	HP:0007380	Facial telangiectasia	3	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040284 - Very rare	169
HP:0011276	HP:0031365	Macular purpura	3	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia		101
HP:0011276	HP:0007380	Facial telangiectasia	3	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome		314
HP:0011276	HP:0031365	Macular purpura	3	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0011276	HP:0031365	Macular purpura	3	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis		1
HP:0011276	HP:0410135	Cold urticaria	3	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0011276	HP:0031365	Macular purpura	3	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0011276	HP:0031365	Macular purpura	3	CD109 CL E G H	135228	21685	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia
HP:0011276	HP:0031365	Macular purpura	3	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0011276	HP:0031365	Macular purpura	3	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1		27
HP:0011276	HP:0031365	Macular purpura	3	CLCN7 CL E G H	1186	2025	OMIM:611490	Osteopetrosis, autosomal recessive 4		102
HP:0011276	HP:0031365	Macular purpura	3	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome		373
HP:0011276	HP:0031365	Macular purpura	3	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0011276	HP:0031365	Macular purpura	3	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome		660
HP:0011276	HP:0031365	Macular purpura	3	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome		325
HP:0011276	HP:0030503	Macular telangiectasia	3	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	88
HP:0011276	HP:0000524	Conjunctival telangiectasia	3	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis	.	51
HP:0011276	HP:0007380	Facial telangiectasia	3	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040284 - Very rare
HP:0011276	HP:0000524	Conjunctival telangiectasia	3	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	30
HP:0011276	HP:0000524	Conjunctival telangiectasia	3	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	186
HP:0011276	HP:0002604	Gastrointestinal telangiectasia	3	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1	.	186
HP:0011276	HP:0000524	Conjunctival telangiectasia	3	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1	.	186
HP:0011276	HP:0000228	Oral cavity telangiectasia	3	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1		186
HP:0011276	HP:0006107	Fingerpad telangiectases	3	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1	.	186
HP:0011276	HP:0000434	Nasal mucosa telangiectasia	3	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1	.	186
HP:0011276	HP:0000524	Conjunctival telangiectasia	3	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	106
HP:0011276	HP:0000524	Conjunctival telangiectasia	3	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	54
HP:0011276	HP:0000524	Conjunctival telangiectasia	3	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	158
HP:0011276	HP:0000524	Conjunctival telangiectasia	3	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	83
HP:0011276	HP:0031365	Macular purpura	3	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic		42
HP:0011276	HP:0031365	Macular purpura	3	ETHE1 CL E G H	23474	23287	ORPHA:51188	Ethylmalonic encephalopathy		42
HP:0011276	HP:0031365	Macular purpura	3	ETV6 CL E G H	2120	3495	OMIM:616216	Thrombocytopenia 5		13
HP:0011276	HP:0031365	Macular purpura	3	F13A1 CL E G H	2162	3531	ORPHA:331	Congenital factor XIII deficiency		60
HP:0011276	HP:0031365	Macular purpura	3	F13A1 CL E G H	2162	3531	OMIM:613225	Factor XIII, A subunit, deficiency of		60
HP:0011276	HP:0031365	Macular purpura	3	F13B CL E G H	2165	3534	ORPHA:331	Congenital factor XIII deficiency		32
HP:0011276	HP:0031365	Macular purpura	3	F13B CL E G H	2165	3534	OMIM:613235	Factor XIIIB deficiency		32
HP:0011276	HP:0031365	Macular purpura	3	F2 CL E G H	2147	3535	OMIM:613679	Congenital prothrombin deficiency		44
HP:0011276	HP:0031365	Macular purpura	3	FCGR2C CL E G H	9103	15626	ORPHA:3002	Immune thrombocytopenia
HP:0011276	HP:0031365	Macular purpura	3	FERMT3 CL E G H	83706	23151	OMIM:612840	Leukocyte adhesion deficiency, type III		23
HP:0011276	HP:0031365	Macular purpura	3	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia		4
HP:0011276	HP:0031365	Macular purpura	3	FYB1 CL E G H	2533	4036	OMIM:273900	THROMBOCYTOPENIA 3; THC3		4
HP:0011276	HP:0030503	Macular telangiectasia	3	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	109
HP:0011276	HP:0031365	Macular purpura	3	GATA1 CL E G H	2623	4170	OMIM:314050	Thrombocytopenia with beta-thalassemia, X-linked		29
HP:0011276	HP:0031365	Macular purpura	3	GATA1 CL E G H	2623	4170	OMIM:300367	Thrombocytopenia, X-linked, with or without dyserythropoietic anemia		29
HP:0011276	HP:0031365	Macular purpura	3	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0011276	HP:0031365	Macular purpura	3	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0011276	HP:0000524	Conjunctival telangiectasia	3	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	8
HP:0011276	HP:0031365	Macular purpura	3	GFI1B CL E G H	8328	4238	OMIM:187900	Bleeding disorder, platelet-type, 17		3
HP:0011276	HP:0031365	Macular purpura	3	GGCX CL E G H	2677	4247	OMIM:277450	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1		129
HP:0011276	HP:0031365	Macular purpura	3	GIMAP5 CL E G H	55340	18005	OMIM:619463	PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0011276	HP:0000524	Conjunctival telangiectasia	3	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040281 - Very frequent	291
HP:0011276	HP:0031365	Macular purpura	3	GNA14 CL E G H	9630	4382	ORPHA:1063	Tufted angioma
HP:0011276	HP:0000524	Conjunctival telangiectasia	3	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome	HP:0040283 - Occasional	7
HP:0011276	HP:0007380	Facial telangiectasia	3	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II		240
HP:0011276	HP:0031365	Macular purpura	3	GP1BA CL E G H	2811	4439	ORPHA:274	Bernard-Soulier syndrome		23
HP:0011276	HP:0031365	Macular purpura	3	GP1BA CL E G H	2811	4439	OMIM:153670	Bernard-Soulier syndrome, type A2, autosomal dominant		23
HP:0011276	HP:0031365	Macular purpura	3	GP1BA CL E G H	2811	4439	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia		23
HP:0011276	HP:0031365	Macular purpura	3	GP1BB CL E G H	2812	4440	ORPHA:274	Bernard-Soulier syndrome		8
HP:0011276	HP:0031365	Macular purpura	3	GP1BB CL E G H	2812	4440	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia		8
HP:0011276	HP:0031365	Macular purpura	3	GP6 CL E G H	51206	14388	OMIM:614201	Bleeding disorder, platelet-type, 11		24
HP:0011276	HP:0031365	Macular purpura	3	GP9 CL E G H	2815	4444	ORPHA:274	Bernard-Soulier syndrome		21
HP:0011276	HP:0012522	Spider hemangioma	3	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent	2
HP:0011276	HP:0030168	Dilated superficial abdominal veins	3	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent	2
HP:0011276	HP:0100869	Palmar telangiectasia	3	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent	2
HP:0011276	HP:0031365	Macular purpura	3	HOXA11 CL E G H	3207	5101	OMIM:605432	Radioulnar synostosis with amegakaryocytic thrombocytopenia		3
HP:0011276	HP:0031365	Macular purpura	3	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1		121
HP:0011276	HP:0031365	Macular purpura	3	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6		45
HP:0011276	HP:0031365	Macular purpura	3	IFNG CL E G H	3458	5438	ORPHA:88	Idiopathic aplastic anemia		23
HP:0011276	HP:0011971	Dermatographic urticaria	3	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent
HP:0011276	HP:0011971	Dermatographic urticaria	3	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent	46
HP:0011276	HP:0031365	Macular purpura	3	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia		4
HP:0011276	HP:0011971	Dermatographic urticaria	3	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent	4
HP:0011276	HP:0031365	Macular purpura	3	ITGA2 CL E G H	3673	6137	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia		119
HP:0011276	HP:0031365	Macular purpura	3	ITGA2B CL E G H	3674	6138	OMIM:187800	Bleeding disorder, platelet-type, 16		69
HP:0011276	HP:0031365	Macular purpura	3	ITGA2B CL E G H	3674	6138	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia		69
HP:0011276	HP:0031365	Macular purpura	3	ITGA2B CL E G H	3674	6138	OMIM:273800	Glanzmann thrombasthenia		69
HP:0011276	HP:0031365	Macular purpura	3	ITGA2B CL E G H	3674	6138	ORPHA:849	Glanzmann thrombasthenia		69
HP:0011276	HP:0031365	Macular purpura	3	ITGB3 CL E G H	3690	6156	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia		80
HP:0011276	HP:0031365	Macular purpura	3	ITGB3 CL E G H	3690	6156	ORPHA:849	Glanzmann thrombasthenia		80
HP:0011276	HP:0031365	Macular purpura	3	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis		57
HP:0011276	HP:0011971	Dermatographic urticaria	3	KIT CL E G H	3815	6342	ORPHA:79455	Cutaneous mastocytoma		327
HP:0011276	HP:0100869	Palmar telangiectasia	3	LBR CL E G H	3930	6518	OMIM:613471	Reynolds syndrome	.	70
HP:0011276	HP:0000228	Oral cavity telangiectasia	3	LBR CL E G H	3930	6518	OMIM:613471	Reynolds syndrome		70
HP:0011276	HP:0031365	Macular purpura	3	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0011276	HP:0000524	Conjunctival telangiectasia	3	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0011276	HP:0030503	Macular telangiectasia	3	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	125
HP:0011276	HP:0000524	Conjunctival telangiectasia	3	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1	.	21
HP:0011276	HP:0011971	Dermatographic urticaria	3	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent
HP:0011276	HP:0031365	Macular purpura	3	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis		97
HP:0011276	HP:0030168	Dilated superficial abdominal veins	3	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent	1
HP:0011276	HP:0100869	Palmar telangiectasia	3	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent	1
HP:0011276	HP:0012522	Spider hemangioma	3	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent	1
HP:0011276	HP:0031365	Macular purpura	3	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia
HP:0011276	HP:0000228	Oral cavity telangiectasia	3	NAGA CL E G H	4668	7631	ORPHA:79280	Alpha-N-acetylgalactosaminidase deficiency type 2		47
HP:0011276	HP:0000228	Oral cavity telangiectasia	3	NAGA CL E G H	4668	7631	OMIM:609242	Kanzaki disease		47
HP:0011276	HP:0030503	Macular telangiectasia	3	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	39
HP:0011276	HP:0031365	Macular purpura	3	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2		43
HP:0011276	HP:0031365	Macular purpura	3	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia		12
HP:0011276	HP:0031365	Macular purpura	3	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0011276	HP:0031365	Macular purpura	3	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia
HP:0011276	HP:0031365	Macular purpura	3	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria		23
HP:0011276	HP:0031365	Macular purpura	3	P2RY12 CL E G H	64805	18124	OMIM:609821	Bleeding disorder, platelet-type, 8		5
HP:0011276	HP:0000524	Conjunctival telangiectasia	3	PCNA CL E G H	5111	8729	OMIM:615919	Ataxia-Telangiectasia-Like disorder 2	.	1
HP:0011276	HP:0031365	Macular purpura	3	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency		66
HP:0011276	HP:0000524	Conjunctival telangiectasia	3	PEX6 CL E G H	5190	8859	ORPHA:95433	Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome	HP:0040282 - Frequent	98
HP:0011276	HP:0011971	Dermatographic urticaria	3	PLCG2 CL E G H	5336	9066	OMIM:614468	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3		21
HP:0011276	HP:0410135	Cold urticaria	3	PLCG2 CL E G H	5336	9066	OMIM:614468	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3		21
HP:0011276	HP:0031365	Macular purpura	3	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia		3
HP:0011276	HP:0007380	Facial telangiectasia	3	POLE CL E G H	5426	9177	OMIM:615139	Facial dysmorphism, immunodeficiency, livedo, and short stature		1129
HP:0011276	HP:0001043	Prominent scalp veins	3	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040281 - Very frequent	138
HP:0011276	HP:0001043	Prominent scalp veins	3	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0011276	HP:0011971	Dermatographic urticaria	3	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent
HP:0011276	HP:0007457	Prominent veins on trunk	3	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040284 - Very rare	42
HP:0011276	HP:0031365	Macular purpura	3	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		58
HP:0011276	HP:0031365	Macular purpura	3	PRF1 CL E G H	5551	9360	ORPHA:88	Idiopathic aplastic anemia		58
HP:0011276	HP:0031365	Macular purpura	3	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia		134
HP:0011276	HP:0001043	Prominent scalp veins	3	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism	.	6
HP:0011276	HP:0031365	Macular purpura	3	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2		67
HP:0011276	HP:0031365	Macular purpura	3	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia		2
HP:0011276	HP:0000524	Conjunctival telangiectasia	3	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome	HP:0040283 - Occasional	7
HP:0011276	HP:0031365	Macular purpura	3	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome		8
HP:0011276	HP:0031365	Macular purpura	3	SBDS CL E G H	51119	19440	ORPHA:88	Idiopathic aplastic anemia		26
HP:0011276	HP:0007380	Facial telangiectasia	3	SDHD CL E G H	6392	10683	ORPHA:100093	Carcinoid syndrome	HP:0040283 - Occasional	129
HP:0011276	HP:0012522	Spider hemangioma	3	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent
HP:0011276	HP:0030168	Dilated superficial abdominal veins	3	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent
HP:0011276	HP:0100869	Palmar telangiectasia	3	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent
HP:0011276	HP:0011971	Dermatographic urticaria	3	SERPING1 CL E G H	710	1228	ORPHA:100050	Hereditary angioedema type 1	HP:0040281 - Very frequent	64
HP:0011276	HP:0000524	Conjunctival telangiectasia	3	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1	HP:0040283 - Occasional	162
HP:0011276	HP:0011971	Dermatographic urticaria	3	SLC27A4 CL E G H	10999	10998	OMIM:608649	ICHTHYOSIS PREMATURITY SYNDROME; IPS		26
HP:0011276	HP:0007380	Facial telangiectasia	3	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome	HP:0040283 - Occasional	68
HP:0011276	HP:0007380	Facial telangiectasia	3	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0011276	HP:0007380	Facial telangiectasia	3	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome		178
HP:0011276	HP:0012522	Spider hemangioma	3	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic	.	110
HP:0011276	HP:0000524	Conjunctival telangiectasia	3	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	504
HP:0011276	HP:0100869	Palmar telangiectasia	3	SOX18 CL E G H	54345	11194	OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia syndrome	.	7
HP:0011276	HP:0007621	Telangiectasia of extensor surfaces	3	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome	.	7
HP:0011276	HP:0100869	Palmar telangiectasia	3	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	HP:0040281 - Very frequent	7
HP:0011276	HP:0100870	Plantar telangiectasia	3	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	HP:0040281 - Very frequent	7
HP:0011276	HP:0007380	Facial telangiectasia	3	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome		7
HP:0011276	HP:0011971	Dermatographic urticaria	3	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent
HP:0011276	HP:0031365	Macular purpura	3	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia		110
HP:0011276	HP:0031365	Macular purpura	3	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia		12
HP:0011276	HP:0031365	Macular purpura	3	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		85
HP:0011276	HP:0031365	Macular purpura	3	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		70
HP:0011276	HP:0011971	Dermatographic urticaria	3	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0011276	HP:0031365	Macular purpura	3	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia		22
HP:0011276	HP:0031365	Macular purpura	3	TBXA2R CL E G H	6915	11608	OMIM:614009	BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO; BDPLT13		10
HP:0011276	HP:0100869	Palmar telangiectasia	3	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent	241
HP:0011276	HP:0012522	Spider hemangioma	3	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent	241
HP:0011276	HP:0030168	Dilated superficial abdominal veins	3	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent	241
HP:0011276	HP:0031365	Macular purpura	3	TERC CL E G H	7012	11727	ORPHA:88	Idiopathic aplastic anemia		48
HP:0011276	HP:0031365	Macular purpura	3	TERT CL E G H	7015	11730	ORPHA:88	Idiopathic aplastic anemia		238
HP:0011276	HP:0031365	Macular purpura	3	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis		3
HP:0011276	HP:0011971	Dermatographic urticaria	3	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent
HP:0011276	HP:0011971	Dermatographic urticaria	3	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent	71
HP:0011276	HP:0031365	Macular purpura	3	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0011276	HP:0031365	Macular purpura	3	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1		56
HP:0011276	HP:0030503	Macular telangiectasia	3	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	39
HP:0011276	HP:0031365	Macular purpura	3	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		116
HP:0011276	HP:0031365	Macular purpura	3	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2		2
HP:0011276	HP:0031365	Macular purpura	3	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0011276	HP:0031365	Macular purpura	3	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0011276	HP:0031365	Macular purpura	3	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic		7
HP:0011276	HP:0007380	Facial telangiectasia	3	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E		26
HP:0011276	HP:0031365	Macular purpura	3	WAS CL E G H	7454	12731	OMIM:313900	Thrombocytopenia 1		65
HP:0011276	HP:0031365	Macular purpura	3	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome		65
HP:0011276	HP:0031365	Macular purpura	3	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0011276	HP:0031365	Macular purpura	3	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome		6
HP:0011276	HP:0007380	Facial telangiectasia	3	WNT10A CL E G H	80326	13829	ORPHA:50944	Schöpf-Schulz-Passarge syndrome	HP:0040281 - Very frequent	71
HP:0011276	HP:0000524	Conjunctival telangiectasia	3	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	34
HP:0011276	HP:0000524	Conjunctival telangiectasia	3	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	86
HP:0011276	HP:0031365	Macular purpura	3	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia		1
HP:0011276	HP:0030503	Macular telangiectasia	3	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	14
HP:0011276	HP:0025203	Caput medusae	4	CL E G H
HP:0011276	HP:0000214	Lip telangiectasia	4	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.	178
HP:0011276	HP:0002707	Palate telangiectasia	4	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.	178
HP:0011276	HP:0000227	Tongue telangiectasia	4	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.	178
HP:0011276	HP:0031364	Ecchymosis	4	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.	95
HP:0011276	HP:0000967	Petechiae	4	APOE CL E G H	348	613	ORPHA:158029	Sea-blue histiocytosis	HP:0040281 - Very frequent	39
HP:0011276	HP:0031364	Ecchymosis	4	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0011276	HP:0000967	Petechiae	4	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	101
HP:0011276	HP:0031364	Ecchymosis	4	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	101
HP:0011276	HP:0005598	Facial telangiectasia in butterfly midface distribution	4	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome	.	314
HP:0011276	HP:0031364	Ecchymosis	4	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0011276	HP:0031364	Ecchymosis	4	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	1
HP:0011276	HP:0000967	Petechiae	4	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	1
HP:0011276	HP:0000967	Petechiae	4	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0011276	HP:0000967	Petechiae	4	CD109 CL E G H	135228	21685	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040282 - Frequent
HP:0011276	HP:0031364	Ecchymosis	4	CD109 CL E G H	135228	21685	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040283 - Occasional
HP:0011276	HP:0031364	Ecchymosis	4	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0011276	HP:0031364	Ecchymosis	4	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1	.	27
HP:0011276	HP:0000967	Petechiae	4	CLCN7 CL E G H	1186	2025	OMIM:611490	Osteopetrosis, autosomal recessive 4	.	102
HP:0011276	HP:0031364	Ecchymosis	4	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	373
HP:0011276	HP:0031364	Ecchymosis	4	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0011276	HP:0031364	Ecchymosis	4	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	660
HP:0011276	HP:0031364	Ecchymosis	4	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	325
HP:0011276	HP:0000214	Lip telangiectasia	4	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1	.	186
HP:0011276	HP:0002707	Palate telangiectasia	4	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1	.	186
HP:0011276	HP:0000227	Tongue telangiectasia	4	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1	.	186
HP:0011276	HP:0000967	Petechiae	4	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic	.	42
HP:0011276	HP:0000967	Petechiae	4	ETHE1 CL E G H	23474	23287	ORPHA:51188	Ethylmalonic encephalopathy	HP:0040282 - Frequent	42
HP:0011276	HP:0000967	Petechiae	4	ETV6 CL E G H	2120	3495	OMIM:616216	Thrombocytopenia 5	.	13
HP:0011276	HP:0031364	Ecchymosis	4	F13A1 CL E G H	2162	3531	ORPHA:331	Congenital factor XIII deficiency	HP:0040283 - Occasional	60
HP:0011276	HP:0031364	Ecchymosis	4	F13A1 CL E G H	2162	3531	OMIM:613225	Factor XIII, A subunit, deficiency of	.	60
HP:0011276	HP:0031364	Ecchymosis	4	F13B CL E G H	2165	3534	ORPHA:331	Congenital factor XIII deficiency	HP:0040283 - Occasional	32
HP:0011276	HP:0031364	Ecchymosis	4	F13B CL E G H	2165	3534	OMIM:613235	Factor XIIIB deficiency	.	32
HP:0011276	HP:0031364	Ecchymosis	4	F2 CL E G H	2147	3535	OMIM:613679	Congenital prothrombin deficiency	.	44
HP:0011276	HP:0000967	Petechiae	4	FCGR2C CL E G H	9103	15626	ORPHA:3002	Immune thrombocytopenia	HP:0040282 - Frequent
HP:0011276	HP:0000967	Petechiae	4	FERMT3 CL E G H	83706	23151	OMIM:612840	Leukocyte adhesion deficiency, type III	.	23
HP:0011276	HP:0031364	Ecchymosis	4	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	4
HP:0011276	HP:0000967	Petechiae	4	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	4
HP:0011276	HP:0000967	Petechiae	4	FYB1 CL E G H	2533	4036	OMIM:273900	THROMBOCYTOPENIA 3; THC3		4
HP:0011276	HP:0000967	Petechiae	4	GATA1 CL E G H	2623	4170	OMIM:314050	Thrombocytopenia with beta-thalassemia, X-linked	.	29
HP:0011276	HP:0000967	Petechiae	4	GATA1 CL E G H	2623	4170	OMIM:300367	Thrombocytopenia, X-linked, with or without dyserythropoietic anemia	.	29
HP:0011276	HP:0000967	Petechiae	4	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal	.
HP:0011276	HP:0031364	Ecchymosis	4	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040284 - Very rare
HP:0011276	HP:0031364	Ecchymosis	4	GFI1B CL E G H	8328	4238	OMIM:187900	Bleeding disorder, platelet-type, 17	.	3
HP:0011276	HP:0000967	Petechiae	4	GFI1B CL E G H	8328	4238	OMIM:187900	Bleeding disorder, platelet-type, 17	.	3
HP:0011276	HP:0031364	Ecchymosis	4	GGCX CL E G H	2677	4247	OMIM:277450	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1	.	129
HP:0011276	HP:0031364	Ecchymosis	4	GIMAP5 CL E G H	55340	18005	OMIM:619463	PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0011276	HP:0000967	Petechiae	4	GIMAP5 CL E G H	55340	18005	OMIM:619463	PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0011276	HP:0000967	Petechiae	4	GNA14 CL E G H	9630	4382	ORPHA:1063	Tufted angioma	HP:0040283 - Occasional
HP:0011276	HP:0007421	Telangiectases of the cheeks	4	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040283 - Occasional	240
HP:0011276	HP:0000967	Petechiae	4	GP1BA CL E G H	2811	4439	ORPHA:274	Bernard-Soulier syndrome	HP:0040282 - Frequent	23
HP:0011276	HP:0031364	Ecchymosis	4	GP1BA CL E G H	2811	4439	OMIM:153670	Bernard-Soulier syndrome, type A2, autosomal dominant	.	23
HP:0011276	HP:0000967	Petechiae	4	GP1BA CL E G H	2811	4439	OMIM:153670	Bernard-Soulier syndrome, type A2, autosomal dominant	.	23
HP:0011276	HP:0031364	Ecchymosis	4	GP1BA CL E G H	2811	4439	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040283 - Occasional	23
HP:0011276	HP:0000967	Petechiae	4	GP1BA CL E G H	2811	4439	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040282 - Frequent	23
HP:0011276	HP:0000967	Petechiae	4	GP1BB CL E G H	2812	4440	ORPHA:274	Bernard-Soulier syndrome	HP:0040282 - Frequent	8
HP:0011276	HP:0031364	Ecchymosis	4	GP1BB CL E G H	2812	4440	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040283 - Occasional	8
HP:0011276	HP:0000967	Petechiae	4	GP1BB CL E G H	2812	4440	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040282 - Frequent	8
HP:0011276	HP:0031364	Ecchymosis	4	GP6 CL E G H	51206	14388	OMIM:614201	Bleeding disorder, platelet-type, 11	.	24
HP:0011276	HP:0000967	Petechiae	4	GP9 CL E G H	2815	4444	ORPHA:274	Bernard-Soulier syndrome	HP:0040282 - Frequent	21
HP:0011276	HP:0000967	Petechiae	4	HOXA11 CL E G H	3207	5101	OMIM:605432	Radioulnar synostosis with amegakaryocytic thrombocytopenia	.	3
HP:0011276	HP:0031364	Ecchymosis	4	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1		121
HP:0011276	HP:0031364	Ecchymosis	4	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6		45
HP:0011276	HP:0031364	Ecchymosis	4	IFNG CL E G H	3458	5438	ORPHA:88	Idiopathic aplastic anemia	HP:0040283 - Occasional	23
HP:0011276	HP:0000967	Petechiae	4	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	4
HP:0011276	HP:0031364	Ecchymosis	4	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	4
HP:0011276	HP:0031364	Ecchymosis	4	ITGA2 CL E G H	3673	6137	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040283 - Occasional	119
HP:0011276	HP:0000967	Petechiae	4	ITGA2 CL E G H	3673	6137	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040282 - Frequent	119
HP:0011276	HP:0000967	Petechiae	4	ITGA2B CL E G H	3674	6138	OMIM:187800	Bleeding disorder, platelet-type, 16	.	69
HP:0011276	HP:0031364	Ecchymosis	4	ITGA2B CL E G H	3674	6138	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040283 - Occasional	69
HP:0011276	HP:0000967	Petechiae	4	ITGA2B CL E G H	3674	6138	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040282 - Frequent	69
HP:0011276	HP:0031364	Ecchymosis	4	ITGA2B CL E G H	3674	6138	ORPHA:849	Glanzmann thrombasthenia	HP:0040283 - Occasional	69
HP:0011276	HP:0031364	Ecchymosis	4	ITGA2B CL E G H	3674	6138	OMIM:273800	Glanzmann thrombasthenia		69
HP:0011276	HP:0000967	Petechiae	4	ITGB3 CL E G H	3690	6156	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040282 - Frequent	80
HP:0011276	HP:0031364	Ecchymosis	4	ITGB3 CL E G H	3690	6156	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040283 - Occasional	80
HP:0011276	HP:0031364	Ecchymosis	4	ITGB3 CL E G H	3690	6156	ORPHA:849	Glanzmann thrombasthenia	HP:0040283 - Occasional	80
HP:0011276	HP:0031364	Ecchymosis	4	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	57
HP:0011276	HP:0000967	Petechiae	4	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	57
HP:0011276	HP:0000214	Lip telangiectasia	4	LBR CL E G H	3930	6518	OMIM:613471	Reynolds syndrome	.	70
HP:0011276	HP:0000967	Petechiae	4	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0011276	HP:0000967	Petechiae	4	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	97
HP:0011276	HP:0031364	Ecchymosis	4	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	97
HP:0011276	HP:0000967	Petechiae	4	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0011276	HP:0031364	Ecchymosis	4	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0011276	HP:0000214	Lip telangiectasia	4	NAGA CL E G H	4668	7631	ORPHA:79280	Alpha-N-acetylgalactosaminidase deficiency type 2	HP:0040281 - Very frequent	47
HP:0011276	HP:0007428	Telangiectasia of the oral mucosa	4	NAGA CL E G H	4668	7631	ORPHA:79280	Alpha-N-acetylgalactosaminidase deficiency type 2	HP:0040281 - Very frequent	47
HP:0011276	HP:0000214	Lip telangiectasia	4	NAGA CL E G H	4668	7631	OMIM:609242	Kanzaki disease	.	47
HP:0011276	HP:0007428	Telangiectasia of the oral mucosa	4	NAGA CL E G H	4668	7631	OMIM:609242	Kanzaki disease	.	47
HP:0011276	HP:0000967	Petechiae	4	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2	HP:0040283 - Occasional	43
HP:0011276	HP:0031364	Ecchymosis	4	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	12
HP:0011276	HP:0000967	Petechiae	4	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	12
HP:0011276	HP:0031364	Ecchymosis	4	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0011276	HP:0031364	Ecchymosis	4	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0011276	HP:0000967	Petechiae	4	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0011276	HP:0000967	Petechiae	4	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria	.	23
HP:0011276	HP:0031364	Ecchymosis	4	P2RY12 CL E G H	64805	18124	OMIM:609821	Bleeding disorder, platelet-type, 8	.	5
HP:0011276	HP:0000967	Petechiae	4	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency		66
HP:0011276	HP:0000967	Petechiae	4	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	3
HP:0011276	HP:0031364	Ecchymosis	4	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	3
HP:0011276	HP:0007421	Telangiectases of the cheeks	4	POLE CL E G H	5426	9177	OMIM:615139	Facial dysmorphism, immunodeficiency, livedo, and short stature	.	1129
HP:0011276	HP:0000967	Petechiae	4	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	58
HP:0011276	HP:0031364	Ecchymosis	4	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	58
HP:0011276	HP:0031364	Ecchymosis	4	PRF1 CL E G H	5551	9360	ORPHA:88	Idiopathic aplastic anemia	HP:0040283 - Occasional	58
HP:0011276	HP:0000967	Petechiae	4	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	134
HP:0011276	HP:0031364	Ecchymosis	4	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	134
HP:0011276	HP:0000967	Petechiae	4	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2	HP:0040283 - Occasional	67
HP:0011276	HP:0031364	Ecchymosis	4	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	2
HP:0011276	HP:0000967	Petechiae	4	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	2
HP:0011276	HP:0000967	Petechiae	4	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome	.	8
HP:0011276	HP:0031364	Ecchymosis	4	SBDS CL E G H	51119	19440	ORPHA:88	Idiopathic aplastic anemia	HP:0040283 - Occasional	26
HP:0011276	HP:0007421	Telangiectases of the cheeks	4	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome	.	178
HP:0011276	HP:0005598	Facial telangiectasia in butterfly midface distribution	4	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome	.	7
HP:0011276	HP:0031364	Ecchymosis	4	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	110
HP:0011276	HP:0000967	Petechiae	4	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	110
HP:0011276	HP:0031364	Ecchymosis	4	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	12
HP:0011276	HP:0000967	Petechiae	4	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	12
HP:0011276	HP:0000967	Petechiae	4	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	85
HP:0011276	HP:0031364	Ecchymosis	4	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	85
HP:0011276	HP:0000967	Petechiae	4	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	70
HP:0011276	HP:0031364	Ecchymosis	4	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	70
HP:0011276	HP:0000967	Petechiae	4	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	22
HP:0011276	HP:0031364	Ecchymosis	4	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	22
HP:0011276	HP:0031364	Ecchymosis	4	TBXA2R CL E G H	6915	11608	OMIM:614009	BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO; BDPLT13		10
HP:0011276	HP:0031364	Ecchymosis	4	TERC CL E G H	7012	11727	ORPHA:88	Idiopathic aplastic anemia	HP:0040283 - Occasional	48
HP:0011276	HP:0031364	Ecchymosis	4	TERT CL E G H	7015	11730	ORPHA:88	Idiopathic aplastic anemia	HP:0040283 - Occasional	238
HP:0011276	HP:0031364	Ecchymosis	4	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	3
HP:0011276	HP:0000967	Petechiae	4	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	3
HP:0011276	HP:0031364	Ecchymosis	4	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0011276	HP:0000967	Petechiae	4	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1		56
HP:0011276	HP:0000967	Petechiae	4	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	116
HP:0011276	HP:0031364	Ecchymosis	4	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	116
HP:0011276	HP:0000967	Petechiae	4	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2	.	2
HP:0011276	HP:0031364	Ecchymosis	4	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0011276	HP:0031364	Ecchymosis	4	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0011276	HP:0031364	Ecchymosis	4	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.	7
HP:0011276	HP:0000967	Petechiae	4	WAS CL E G H	7454	12731	OMIM:313900	Thrombocytopenia 1	.	65
HP:0011276	HP:0000967	Petechiae	4	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040282 - Frequent	65
HP:0011276	HP:0000967	Petechiae	4	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome	.	65
HP:0011276	HP:0000967	Petechiae	4	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040282 - Frequent	6
HP:0011276	HP:0000967	Petechiae	4	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	1
HP:0011276	HP:0031364	Ecchymosis	4	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	1