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:0100585	HP:0100585	Telangiectasia of the skin	0	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum	HP:0040283 - Occasional	415
HP:0100585	HP:0100585	Telangiectasia of the skin	0	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040281 - Very frequent	178
HP:0100585	HP:0100585	Telangiectasia of the skin	0	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2		178
HP:0100585	HP:0100585	Telangiectasia of the skin	0	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis	HP:0040281 - Very frequent	49
HP:0100585	HP:0100585	Telangiectasia of the skin	0	ARL6IP6 CL E G H	151188	24048	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040282 - Frequent	1
HP:0100585	HP:0100585	Telangiectasia of the skin	0	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0100585	HP:0100585	Telangiectasia of the skin	0	ARX CL E G H	170302	18060	ORPHA:94083	Partington syndrome		166
HP:0100585	HP:0100585	Telangiectasia of the skin	0	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia	HP:0040281 - Very frequent	3267
HP:0100585	HP:0100585	Telangiectasia of the skin	0	ATR CL E G H	545	882	OMIM:614564	Cutaneous telangiectasia and cancer syndrome, familial		168
HP:0100585	HP:0100585	Telangiectasia of the skin	0	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach		169
HP:0100585	HP:0100585	Telangiectasia of the skin	0	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome		314
HP:0100585	HP:0100585	Telangiectasia of the skin	0	CAV1 CL E G H	857	1527	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent	11
HP:0100585	HP:0100585	Telangiectasia of the skin	0	CAV1 CL E G H	857	1527	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040282 - Frequent	11
HP:0100585	HP:0100585	Telangiectasia of the skin	0	CCN2 CL E G H	1490	2500	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent
HP:0100585	HP:0100585	Telangiectasia of the skin	0	CCN2 CL E G H	1490	2500	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040282 - Frequent
HP:0100585	HP:0100585	Telangiectasia of the skin	0	CCR6 CL E G H	1235	1607	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent
HP:0100585	HP:0100585	Telangiectasia of the skin	0	CCR6 CL E G H	1235	1607	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040282 - Frequent
HP:0100585	HP:0100585	Telangiectasia of the skin	0	CIB1 CL E G H	10519	16920	ORPHA:302	Epidermodysplasia verruciformis	HP:0040283 - Occasional
HP:0100585	HP:0100585	Telangiectasia of the skin	0	COL3A1 CL E G H	1281	2201	ORPHA:2500	Acrogeria	HP:0040282 - Frequent	749
HP:0100585	HP:0100585	Telangiectasia of the skin	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040282 - Frequent	749
HP:0100585	HP:0100585	Telangiectasia of the skin	0	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	160
HP:0100585	HP:0100585	Telangiectasia of the skin	0	CYLD CL E G H	1540	2584	ORPHA:211	Familial cylindromatosis	HP:0040281 - Very frequent	126
HP:0100585	HP:0100585	Telangiectasia of the skin	0	CYLD CL E G H	1540	2584	ORPHA:867	Familial multiple trichoepithelioma	HP:0040282 - Frequent	126
HP:0100585	HP:0100585	Telangiectasia of the skin	0	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach
HP:0100585	HP:0100585	Telangiectasia of the skin	0	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	30
HP:0100585	HP:0100585	Telangiectasia of the skin	0	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	65
HP:0100585	HP:0100585	Telangiectasia of the skin	0	ELMO2 CL E G H	63916	17233	ORPHA:3019	Ramon syndrome	HP:0040283 - Occasional	3
HP:0100585	HP:0100585	Telangiectasia of the skin	0	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040281 - Very frequent	186
HP:0100585	HP:0100585	Telangiectasia of the skin	0	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1		186
HP:0100585	HP:0100585	Telangiectasia of the skin	0	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum	HP:0040283 - Occasional	151
HP:0100585	HP:0100585	Telangiectasia of the skin	0	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	106
HP:0100585	HP:0100585	Telangiectasia of the skin	0	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	54
HP:0100585	HP:0100585	Telangiectasia of the skin	0	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	158
HP:0100585	HP:0100585	Telangiectasia of the skin	0	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	83
HP:0100585	HP:0100585	Telangiectasia of the skin	0	FERMT1 CL E G H	55612	15889	OMIM:173650	Kindler syndrome		136
HP:0100585	HP:0100585	Telangiectasia of the skin	0	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040281 - Very frequent	8
HP:0100585	HP:0100585	Telangiectasia of the skin	0	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040281 - Very frequent	291
HP:0100585	HP:0100585	Telangiectasia of the skin	0	GNA11 CL E G H	2767	4379	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040282 - Frequent	16
HP:0100585	HP:0100585	Telangiectasia of the skin	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II		240
HP:0100585	HP:0100585	Telangiectasia of the skin	0	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis		2
HP:0100585	HP:0100585	Telangiectasia of the skin	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent	2
HP:0100585	HP:0100585	Telangiectasia of the skin	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040282 - Frequent	2
HP:0100585	HP:0100585	Telangiectasia of the skin	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia		25
HP:0100585	HP:0100585	Telangiectasia of the skin	0	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040281 - Very frequent	52
HP:0100585	HP:0100585	Telangiectasia of the skin	0	IL7 CL E G H	3574	6023	ORPHA:302	Epidermodysplasia verruciformis	HP:0040283 - Occasional
HP:0100585	HP:0100585	Telangiectasia of the skin	0	IRF5 CL E G H	3663	6120	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent	4
HP:0100585	HP:0100585	Telangiectasia of the skin	0	IRF5 CL E G H	3663	6120	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040282 - Frequent	4
HP:0100585	HP:0100585	Telangiectasia of the skin	0	KIAA0319L CL E G H	79932	30071	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040282 - Frequent
HP:0100585	HP:0100585	Telangiectasia of the skin	0	KIT CL E G H	3815	6342	ORPHA:79455	Cutaneous mastocytoma		327
HP:0100585	HP:0100585	Telangiectasia of the skin	0	LBR CL E G H	3930	6518	OMIM:613471	Reynolds syndrome		70
HP:0100585	HP:0100585	Telangiectasia of the skin	0	LBR CL E G H	3930	6518	ORPHA:779	Reynolds syndrome	HP:0040282 - Frequent	70
HP:0100585	HP:0100585	Telangiectasia of the skin	0	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome	HP:0040283 - Occasional	88
HP:0100585	HP:0100585	Telangiectasia of the skin	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent	645
HP:0100585	HP:0100585	Telangiectasia of the skin	0	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis		1
HP:0100585	HP:0100585	Telangiectasia of the skin	0	NAGA CL E G H	4668	7631	ORPHA:79279	Alpha-N-acetylgalactosaminidase deficiency type 1	HP:0040282 - Frequent	47
HP:0100585	HP:0100585	Telangiectasia of the skin	0	NAGA CL E G H	4668	7631	ORPHA:79280	Alpha-N-acetylgalactosaminidase deficiency type 2	HP:0040281 - Very frequent	47
HP:0100585	HP:0100585	Telangiectasia of the skin	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040282 - Frequent	1952
HP:0100585	HP:0100585	Telangiectasia of the skin	0	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	27
HP:0100585	HP:0100585	Telangiectasia of the skin	0	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	17
HP:0100585	HP:0100585	Telangiectasia of the skin	0	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	12
HP:0100585	HP:0100585	Telangiectasia of the skin	0	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	26
HP:0100585	HP:0100585	Telangiectasia of the skin	0	PCNA CL E G H	5111	8729	ORPHA:438134	PCNA-related progressive neurodegenerative photosensitivity syndrome	HP:0040281 - Very frequent	1
HP:0100585	HP:0100585	Telangiectasia of the skin	0	PIK3CA CL E G H	5290	8975	ORPHA:276280	Hemihyperplasia-multiple lipomatosis syndrome	HP:0040283 - Occasional	162
HP:0100585	HP:0100585	Telangiectasia of the skin	0	PIK3CA CL E G H	5290	8975	ORPHA:60040	Megalencephaly-capillary malformation-polymicrogyria syndrome	HP:0040281 - Very frequent	162
HP:0100585	HP:0100585	Telangiectasia of the skin	0	POLE CL E G H	5426	9177	OMIM:615139	Facial dysmorphism, immunodeficiency, livedo, and short stature		1129
HP:0100585	HP:0100585	Telangiectasia of the skin	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040281 - Very frequent	20
HP:0100585	HP:0100585	Telangiectasia of the skin	0	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	77
HP:0100585	HP:0100585	Telangiectasia of the skin	0	SDHD CL E G H	6392	10683	ORPHA:100093	Carcinoid syndrome		129
HP:0100585	HP:0100585	Telangiectasia of the skin	0	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0100585	HP:0100585	Telangiectasia of the skin	0	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome		68
HP:0100585	HP:0100585	Telangiectasia of the skin	0	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0100585	HP:0100585	Telangiectasia of the skin	0	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome		178
HP:0100585	HP:0100585	Telangiectasia of the skin	0	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040281 - Very frequent	178
HP:0100585	HP:0100585	Telangiectasia of the skin	0	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic		110
HP:0100585	HP:0100585	Telangiectasia of the skin	0	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040281 - Very frequent	504
HP:0100585	HP:0100585	Telangiectasia of the skin	0	SOX18 CL E G H	54345	11194	OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia syndrome		7
HP:0100585	HP:0100585	Telangiectasia of the skin	0	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome		7
HP:0100585	HP:0100585	Telangiectasia of the skin	0	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome		7
HP:0100585	HP:0100585	Telangiectasia of the skin	0	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis		241
HP:0100585	HP:0100585	Telangiectasia of the skin	0	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	48
HP:0100585	HP:0100585	Telangiectasia of the skin	0	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	238
HP:0100585	HP:0100585	Telangiectasia of the skin	0	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	60
HP:0100585	HP:0100585	Telangiectasia of the skin	0	TMC6 CL E G H	11322	18021	ORPHA:302	Epidermodysplasia verruciformis	HP:0040283 - Occasional	10
HP:0100585	HP:0100585	Telangiectasia of the skin	0	TMC8 CL E G H	147138	20474	ORPHA:302	Epidermodysplasia verruciformis	HP:0040283 - Occasional	4
HP:0100585	HP:0100585	Telangiectasia of the skin	0	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	1
HP:0100585	HP:0100585	Telangiectasia of the skin	0	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	8
HP:0100585	HP:0100585	Telangiectasia of the skin	0	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E		26
HP:0100585	HP:0100585	Telangiectasia of the skin	0	WNT10A CL E G H	80326	13829	ORPHA:50944	Schöpf-Schulz-Passarge syndrome		71
HP:0100585	HP:0100585	Telangiectasia of the skin	0	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	40
HP:0100585	HP:0100585	Telangiectasia of the skin	0	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome	HP:0040282 - Frequent	310
HP:0100585	HP:0100585	Telangiectasia of the skin	0	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	34
HP:0100585	HP:0100585	Telangiectasia of the skin	0	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	86
HP:0100585	HP:0100585	Telangiectasia of the skin	0	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome	HP:0040283 - Occasional	9
HP:0100585	HP:0025555	Periungual teleangiectasia	1	CL E G H
HP:0100585	HP:0009893	Telangiectasia of the ear	1	CL E G H
HP:0100585	HP:0007586	Telangiectases producing 'marbled' skin	1	CL E G H
HP:0100585	HP:0007380	Facial telangiectasia	1	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2		178
HP:0100585	HP:0100869	Palmar telangiectasia	1	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2		178
HP:0100585	HP:0006107	Fingerpad telangiectases	1	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.	178
HP:0100585	HP:0007380	Facial telangiectasia	1	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0100585	HP:0007380	Facial telangiectasia	1	ARX CL E G H	170302	18060	ORPHA:94083	Partington syndrome	HP:0040283 - Occasional	166
HP:0100585	HP:0007380	Facial telangiectasia	1	ATR CL E G H	545	882	OMIM:614564	Cutaneous telangiectasia and cancer syndrome, familial		168
HP:0100585	HP:0007380	Facial telangiectasia	1	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040284 - Very rare	169
HP:0100585	HP:0007380	Facial telangiectasia	1	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome		314
HP:0100585	HP:0007380	Facial telangiectasia	1	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040284 - Very rare
HP:0100585	HP:0006107	Fingerpad telangiectases	1	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1	.	186
HP:0100585	HP:0007380	Facial telangiectasia	1	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II		240
HP:0100585	HP:0100869	Palmar telangiectasia	1	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent	2
HP:0100585	HP:0012522	Spider hemangioma	1	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent	2
HP:0100585	HP:0100869	Palmar telangiectasia	1	LBR CL E G H	3930	6518	OMIM:613471	Reynolds syndrome	.	70
HP:0100585	HP:0100869	Palmar telangiectasia	1	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent	1
HP:0100585	HP:0012522	Spider hemangioma	1	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent	1
HP:0100585	HP:0007380	Facial telangiectasia	1	POLE CL E G H	5426	9177	OMIM:615139	Facial dysmorphism, immunodeficiency, livedo, and short stature		1129
HP:0100585	HP:0007380	Facial telangiectasia	1	SDHD CL E G H	6392	10683	ORPHA:100093	Carcinoid syndrome	HP:0040283 - Occasional	129
HP:0100585	HP:0012522	Spider hemangioma	1	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent
HP:0100585	HP:0100869	Palmar telangiectasia	1	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent
HP:0100585	HP:0007380	Facial telangiectasia	1	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome	HP:0040283 - Occasional	68
HP:0100585	HP:0007380	Facial telangiectasia	1	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0100585	HP:0007380	Facial telangiectasia	1	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome		178
HP:0100585	HP:0012522	Spider hemangioma	1	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic	.	110
HP:0100585	HP:0100869	Palmar telangiectasia	1	SOX18 CL E G H	54345	11194	OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia syndrome	.	7
HP:0100585	HP:0100869	Palmar telangiectasia	1	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	HP:0040281 - Very frequent	7
HP:0100585	HP:0100870	Plantar telangiectasia	1	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	HP:0040281 - Very frequent	7
HP:0100585	HP:0007380	Facial telangiectasia	1	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome		7
HP:0100585	HP:0007621	Telangiectasia of extensor surfaces	1	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome	.	7
HP:0100585	HP:0100869	Palmar telangiectasia	1	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent	241
HP:0100585	HP:0012522	Spider hemangioma	1	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent	241
HP:0100585	HP:0007380	Facial telangiectasia	1	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E		26
HP:0100585	HP:0007380	Facial telangiectasia	1	WNT10A CL E G H	80326	13829	ORPHA:50944	Schöpf-Schulz-Passarge syndrome	HP:0040281 - Very frequent	71
HP:0100585	HP:0005598	Facial telangiectasia in butterfly midface distribution	2	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome	.	314
HP:0100585	HP:0007421	Telangiectases of the cheeks	2	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040283 - Occasional	240
HP:0100585	HP:0007421	Telangiectases of the cheeks	2	POLE CL E G H	5426	9177	OMIM:615139	Facial dysmorphism, immunodeficiency, livedo, and short stature	.	1129
HP:0100585	HP:0007421	Telangiectases of the cheeks	2	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome	.	178
HP:0100585	HP:0005598	Facial telangiectasia in butterfly midface distribution	2	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome	.	7