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:0010566	HP:0010566	Hamartoma	0	ACTB CL E G H	60	132	ORPHA:64755	Becker nevus syndrome	HP:0040281 - Very frequent	72
HP:0010566	HP:0010566	Hamartoma	0	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva	.	49
HP:0010566	HP:0010566	Hamartoma	0	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome		1
HP:0010566	HP:0010566	Hamartoma	0	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome		54
HP:0010566	HP:0010566	Hamartoma	0	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6		54
HP:0010566	HP:0010566	Hamartoma	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040282 - Frequent	54
HP:0010566	HP:0010566	Hamartoma	0	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic		54
HP:0010566	HP:0010566	Hamartoma	0	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli		3179
HP:0010566	HP:0010566	Hamartoma	0	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis		3179
HP:0010566	HP:0010566	Hamartoma	0	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome		3179
HP:0010566	HP:0010566	Hamartoma	0	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome		385
HP:0010566	HP:0010566	Hamartoma	0	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy		385
HP:0010566	HP:0010566	Hamartoma	0	BMPR1A CL E G H	657	1076	OMIM:610069	POLYPOSIS SYNDROME, HEREDITARY MIXED, 2; HMPS2		385
HP:0010566	HP:0010566	Hamartoma	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0010566	HP:0010566	Hamartoma	0	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3		276
HP:0010566	HP:0010566	Hamartoma	0	BRAF CL E G H	673	1097	OMIM:155600	Melanoma, cutaneous malignant		276
HP:0010566	HP:0010566	Hamartoma	0	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7		276
HP:0010566	HP:0010566	Hamartoma	0	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome		147
HP:0010566	HP:0010566	Hamartoma	0	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease		1
HP:0010566	HP:0010566	Hamartoma	0	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome		1
HP:0010566	HP:0010566	Hamartoma	0	CDC73 CL E G H	79577	16783	OMIM:145001	Hyperparathyroidism 2	.	169
HP:0010566	HP:0010566	Hamartoma	0	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome		169
HP:0010566	HP:0010566	Hamartoma	0	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma		169
HP:0010566	HP:0010566	Hamartoma	0	CDK4 CL E G H	1019	1773	OMIM:609048	Melanoma, cutaneous malignant, susceptibility to, 3		145
HP:0010566	HP:0010566	Hamartoma	0	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4		102
HP:0010566	HP:0010566	Hamartoma	0	CDKN1B CL E G H	1027	1785	OMIM:610755	Multiple endocrine neoplasia, type IV		102
HP:0010566	HP:0010566	Hamartoma	0	COL18A1 CL E G H	80781	2195	ORPHA:1571	Knobloch syndrome		177
HP:0010566	HP:0010566	Hamartoma	0	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0010566	HP:0010566	Hamartoma	0	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0010566	HP:0010566	Hamartoma	0	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome		164
HP:0010566	HP:0010566	Hamartoma	0	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0010566	HP:0010566	Hamartoma	0	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly	.	7
HP:0010566	HP:0010566	Hamartoma	0	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0010566	HP:0010566	Hamartoma	0	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome		114
HP:0010566	HP:0010566	Hamartoma	0	FGF3 CL E G H	2248	3681	ORPHA:2791	Otodental syndrome		18
HP:0010566	HP:0010566	Hamartoma	0	FGFR3 CL E G H	2261	3690	OMIM:162900	Epidermal nevus, somatic		145
HP:0010566	HP:0010566	Hamartoma	0	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		301
HP:0010566	HP:0010566	Hamartoma	0	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency		115
HP:0010566	HP:0010566	Hamartoma	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0010566	HP:0010566	Hamartoma	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0010566	HP:0010566	Hamartoma	0	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome		9
HP:0010566	HP:0010566	Hamartoma	0	HRAS CL E G H	3265	5173	OMIM:162900	Epidermal nevus, somatic		113
HP:0010566	HP:0010566	Hamartoma	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0010566	HP:0010566	Hamartoma	0	IDH1 CL E G H	3417	5382	ORPHA:296	Ollier disease		15
HP:0010566	HP:0010566	Hamartoma	0	IDH2 CL E G H	3418	5383	ORPHA:296	Ollier disease		29
HP:0010566	HP:0010566	Hamartoma	0	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex		23
HP:0010566	HP:0010566	Hamartoma	0	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0010566	HP:0010566	Hamartoma	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome		283
HP:0010566	HP:0010566	Hamartoma	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation		283
HP:0010566	HP:0010566	Hamartoma	0	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6		4
HP:0010566	HP:0010566	Hamartoma	0	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		202
HP:0010566	HP:0010566	Hamartoma	0	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6		167
HP:0010566	HP:0010566	Hamartoma	0	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome		1
HP:0010566	HP:0010566	Hamartoma	0	KLLN CL E G H	100144748	37212	OMIM:615107	Cowden syndrome 4	.	1
HP:0010566	HP:0010566	Hamartoma	0	KRT1 CL E G H	3848	6412	ORPHA:312	Autosomal dominant epidermolytic ichthyosis		100
HP:0010566	HP:0010566	Hamartoma	0	KRT10 CL E G H	3858	6413	ORPHA:312	Autosomal dominant epidermolytic ichthyosis		45
HP:0010566	HP:0010566	Hamartoma	0	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0010566	HP:0010566	Hamartoma	0	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		84
HP:0010566	HP:0010566	Hamartoma	0	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		4
HP:0010566	HP:0010566	Hamartoma	0	MSH3 CL E G H	4437	7326	ORPHA:480536	MSH3-related attenuated familial adenomatous polyposis		5
HP:0010566	HP:0010566	Hamartoma	0	MSH6 CL E G H	2956	7329	OMIM:619097	MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3		2232
HP:0010566	HP:0010566	Hamartoma	0	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome		150
HP:0010566	HP:0010566	Hamartoma	0	NEK9 CL E G H	91754	18591	ORPHA:64754	Nevus comedonicus syndrome	HP:0040281 - Very frequent	9
HP:0010566	HP:0010566	Hamartoma	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome		1952
HP:0010566	HP:0010566	Hamartoma	0	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		1952
HP:0010566	HP:0010566	Hamartoma	0	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion		1952
HP:0010566	HP:0010566	Hamartoma	0	NF1 CL E G H	4763	7765	OMIM:162210	Neurofibromatosis, familial spinal		1952
HP:0010566	HP:0010566	Hamartoma	0	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I		1952
HP:0010566	HP:0010566	Hamartoma	0	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome		1952
HP:0010566	HP:0010566	Hamartoma	0	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2		220
HP:0010566	HP:0010566	Hamartoma	0	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II		220
HP:0010566	HP:0010566	Hamartoma	0	NRAS CL E G H	4893	7989	OMIM:162900	Epidermal nevus, somatic		102
HP:0010566	HP:0010566	Hamartoma	0	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I		201
HP:0010566	HP:0010566	Hamartoma	0	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6		201
HP:0010566	HP:0010566	Hamartoma	0	PAK2 CL E G H	5062	8591	ORPHA:1571	Knobloch syndrome
HP:0010566	HP:0010566	Hamartoma	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0010566	HP:0010566	Hamartoma	0	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6		1
HP:0010566	HP:0010566	Hamartoma	0	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome		162
HP:0010566	HP:0010566	Hamartoma	0	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5		162
HP:0010566	HP:0010566	Hamartoma	0	PIK3CA CL E G H	5290	8975	OMIM:162900	Epidermal nevus, somatic		162
HP:0010566	HP:0010566	Hamartoma	0	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome		665
HP:0010566	HP:0010566	Hamartoma	0	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome		40
HP:0010566	HP:0010566	Hamartoma	0	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome		948
HP:0010566	HP:0010566	Hamartoma	0	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome		948
HP:0010566	HP:0010566	Hamartoma	0	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1		948
HP:0010566	HP:0010566	Hamartoma	0	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy		948
HP:0010566	HP:0010566	Hamartoma	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040282 - Frequent	948
HP:0010566	HP:0010566	Hamartoma	0	PTEN CL E G H	5728	9588	ORPHA:137608	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome	HP:0040282 - Frequent	948
HP:0010566	HP:0010566	Hamartoma	0	PTH1R CL E G H	5745	9608	ORPHA:296	Ollier disease		58
HP:0010566	HP:0010566	Hamartoma	0	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		572
HP:0010566	HP:0010566	Hamartoma	0	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		304
HP:0010566	HP:0010566	Hamartoma	0	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		55
HP:0010566	HP:0010566	Hamartoma	0	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome		237
HP:0010566	HP:0010566	Hamartoma	0	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		237
HP:0010566	HP:0010566	Hamartoma	0	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome		147
HP:0010566	HP:0010566	Hamartoma	0	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		147
HP:0010566	HP:0010566	Hamartoma	0	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome		129
HP:0010566	HP:0010566	Hamartoma	0	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		129
HP:0010566	HP:0010566	Hamartoma	0	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome		60
HP:0010566	HP:0010566	Hamartoma	0	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3		20
HP:0010566	HP:0010566	Hamartoma	0	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0010566	HP:0010566	Hamartoma	0	SMAD4 CL E G H	4089	6770	OMIM:175050	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome		504
HP:0010566	HP:0010566	Hamartoma	0	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included		22
HP:0010566	HP:0010566	Hamartoma	0	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3		33
HP:0010566	HP:0010566	Hamartoma	0	STK11 CL E G H	6794	11389	OMIM:155600	Melanoma, cutaneous malignant		740
HP:0010566	HP:0010566	Hamartoma	0	STK11 CL E G H	6794	11389	OMIM:175200	Peutz-Jeghers syndrome		740
HP:0010566	HP:0010566	Hamartoma	0	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome		124
HP:0010566	HP:0010566	Hamartoma	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040281 - Very frequent	31
HP:0010566	HP:0010566	Hamartoma	0	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6		31
HP:0010566	HP:0010566	Hamartoma	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.	12
HP:0010566	HP:0010566	Hamartoma	0	TIAM1 CL E G H	7074	11805	OMIM:619908			2
HP:0010566	HP:0010566	Hamartoma	0	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		131
HP:0010566	HP:0010566	Hamartoma	0	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6		45
HP:0010566	HP:0010566	Hamartoma	0	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6		61
HP:0010566	HP:0010566	Hamartoma	0	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis		1090
HP:0010566	HP:0010566	Hamartoma	0	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex		1090
HP:0010566	HP:0010566	Hamartoma	0	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1		1090
HP:0010566	HP:0010566	Hamartoma	0	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis		2738
HP:0010566	HP:0010566	Hamartoma	0	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex		2738
HP:0010566	HP:0010566	Hamartoma	0	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738
HP:0010566	HP:0010566	Hamartoma	0	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome		1
HP:0010566	HP:0010566	Hamartoma	0	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		490
HP:0010566	HP:0010566	Hamartoma	0	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease		490
HP:0010566	HP:0010566	Hamartoma	0	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome		490
HP:0010566	HP:0010566	Hamartoma	0	VPS16 CL E G H	64601	14584	OMIM:619291	DYSTONIA 30; DYT30
HP:0010566	HP:0031111	Cutaneous hamartoma	1	CL E G H
HP:0010566	HP:0100883	Chorangioma	1	CL E G H
HP:0010566	HP:0100882	Fibrous hamartoma	1	CL E G H
HP:0010566	HP:0034514	Liver hamartoma	1	CL E G H
HP:0010566	HP:0032579	Vascular hamartoma	1	CL E G H
HP:0010566	HP:0100764	Lymphangioma	1	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent	1
HP:0010566	HP:0030670	Hamartoma of the orbital region	1	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome		54
HP:0010566	HP:0004390	Hamartomatous polyposis	1	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	54
HP:0010566	HP:0004390	Hamartomatous polyposis	1	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6	.	54
HP:0010566	HP:0100764	Lymphangioma	1	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent	54
HP:0010566	HP:0030670	Hamartoma of the orbital region	1	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome		54
HP:0010566	HP:0100764	Lymphangioma	1	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic	.	54
HP:0010566	HP:0011068	Odontoma	1	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli	.	3179
HP:0010566	HP:0011068	Odontoma	1	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis	HP:0040284 - Very rare	3179
HP:0010566	HP:0011068	Odontoma	1	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome	HP:0040284 - Very rare	3179
HP:0010566	HP:0004390	Hamartomatous polyposis	1	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome		385
HP:0010566	HP:0004390	Hamartomatous polyposis	1	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040282 - Frequent	385
HP:0010566	HP:0004390	Hamartomatous polyposis	1	BMPR1A CL E G H	657	1076	OMIM:610069	POLYPOSIS SYNDROME, HEREDITARY MIXED, 2; HMPS2		385
HP:0010566	HP:0001054	Numerous nevi	1	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0010566	HP:0001054	Numerous nevi	1	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3		276
HP:0010566	HP:0001054	Numerous nevi	1	BRAF CL E G H	673	1097	OMIM:155600	Melanoma, cutaneous malignant	.	276
HP:0010566	HP:0001054	Numerous nevi	1	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7		276
HP:0010566	HP:0100764	Lymphangioma	1	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent	147
HP:0010566	HP:0030670	Hamartoma of the orbital region	1	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease		1
HP:0010566	HP:0030670	Hamartoma of the orbital region	1	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome		1
HP:0010566	HP:0008696	Renal hamartoma	1	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome	HP:0040283 - Occasional	169
HP:0010566	HP:0008696	Renal hamartoma	1	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma	HP:0040283 - Occasional	169
HP:0010566	HP:0001054	Numerous nevi	1	CDK4 CL E G H	1019	1773	OMIM:609048	Melanoma, cutaneous malignant, susceptibility to, 3	.	145
HP:0010566	HP:0008696	Renal hamartoma	1	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4		102
HP:0010566	HP:0008696	Renal hamartoma	1	CDKN1B CL E G H	1027	1785	OMIM:610755	Multiple endocrine neoplasia, type IV		102
HP:0010566	HP:0100764	Lymphangioma	1	COL18A1 CL E G H	80781	2195	ORPHA:1571	Knobloch syndrome	HP:0040283 - Occasional	177
HP:0010566	HP:0009731	Cerebral hamartoma	1	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0010566	HP:0009731	Cerebral hamartoma	1	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0010566	HP:0008696	Renal hamartoma	1	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome	.	164
HP:0010566	HP:0030670	Hamartoma of the orbital region	1	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0010566	HP:0009731	Cerebral hamartoma	1	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0010566	HP:0100764	Lymphangioma	1	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent	114
HP:0010566	HP:0011068	Odontoma	1	FGF3 CL E G H	2248	3681	ORPHA:2791	Otodental syndrome	HP:0040283 - Occasional	18
HP:0010566	HP:0001054	Numerous nevi	1	FGFR3 CL E G H	2261	3690	OMIM:162900	Epidermal nevus, somatic	.	145
HP:0010566	HP:0030670	Hamartoma of the orbital region	1	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		301
HP:0010566	HP:0009731	Cerebral hamartoma	1	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency		115
HP:0010566	HP:0009731	Cerebral hamartoma	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0010566	HP:0009731	Cerebral hamartoma	1	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0010566	HP:0004390	Hamartomatous polyposis	1	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome		9
HP:0010566	HP:0001054	Numerous nevi	1	HRAS CL E G H	3265	5173	OMIM:162900	Epidermal nevus, somatic	.	113
HP:0010566	HP:0100764	Lymphangioma	1	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0010566	HP:0100764	Lymphangioma	1	IDH1 CL E G H	3417	5382	ORPHA:296	Ollier disease	HP:0040283 - Occasional	15
HP:0010566	HP:0100764	Lymphangioma	1	IDH2 CL E G H	3418	5383	ORPHA:296	Ollier disease	HP:0040283 - Occasional	29
HP:0010566	HP:0008696	Renal hamartoma	1	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex		23
HP:0010566	HP:0009731	Cerebral hamartoma	1	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex		23
HP:0010566	HP:0030670	Hamartoma of the orbital region	1	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex		23
HP:0010566	HP:0030670	Hamartoma of the orbital region	1	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0010566	HP:0008696	Renal hamartoma	1	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0010566	HP:0009731	Cerebral hamartoma	1	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0010566	HP:0001054	Numerous nevi	1	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional	283
HP:0010566	HP:0001054	Numerous nevi	1	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional	283
HP:0010566	HP:0009731	Cerebral hamartoma	1	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6		4
HP:0010566	HP:0030670	Hamartoma of the orbital region	1	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		202
HP:0010566	HP:0009731	Cerebral hamartoma	1	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6		167
HP:0010566	HP:0004390	Hamartomatous polyposis	1	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	1
HP:0010566	HP:0030670	Hamartoma of the orbital region	1	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome		1
HP:0010566	HP:0030670	Hamartoma of the orbital region	1	KRT1 CL E G H	3848	6412	ORPHA:312	Autosomal dominant epidermolytic ichthyosis		100
HP:0010566	HP:0030670	Hamartoma of the orbital region	1	KRT10 CL E G H	3858	6413	ORPHA:312	Autosomal dominant epidermolytic ichthyosis		45
HP:0010566	HP:0009731	Cerebral hamartoma	1	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0010566	HP:0030670	Hamartoma of the orbital region	1	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		84
HP:0010566	HP:0030670	Hamartoma of the orbital region	1	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		4
HP:0010566	HP:0004390	Hamartomatous polyposis	1	MSH3 CL E G H	4437	7326	ORPHA:480536	MSH3-related attenuated familial adenomatous polyposis		5
HP:0010566	HP:0030670	Hamartoma of the orbital region	1	MSH6 CL E G H	2956	7329	OMIM:619097	MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3		2232
HP:0010566	HP:0008696	Renal hamartoma	1	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome		150
HP:0010566	HP:0030670	Hamartoma of the orbital region	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome		1952
HP:0010566	HP:0030670	Hamartoma of the orbital region	1	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		1952
HP:0010566	HP:0030670	Hamartoma of the orbital region	1	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion		1952
HP:0010566	HP:0030670	Hamartoma of the orbital region	1	NF1 CL E G H	4763	7765	OMIM:162210	Neurofibromatosis, familial spinal		1952
HP:0010566	HP:0030670	Hamartoma of the orbital region	1	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I		1952
HP:0010566	HP:0030670	Hamartoma of the orbital region	1	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome		1952
HP:0010566	HP:0030670	Hamartoma of the orbital region	1	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2		220
HP:0010566	HP:0030670	Hamartoma of the orbital region	1	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II		220
HP:0010566	HP:0001054	Numerous nevi	1	NRAS CL E G H	4893	7989	OMIM:162900	Epidermal nevus, somatic	.	102
HP:0010566	HP:0009731	Cerebral hamartoma	1	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I		201
HP:0010566	HP:0009731	Cerebral hamartoma	1	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6		201
HP:0010566	HP:0100764	Lymphangioma	1	PAK2 CL E G H	5062	8591	ORPHA:1571	Knobloch syndrome	HP:0040283 - Occasional
HP:0010566	HP:0001054	Numerous nevi	1	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0010566	HP:0009731	Cerebral hamartoma	1	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6		1
HP:0010566	HP:0004390	Hamartomatous polyposis	1	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	162
HP:0010566	HP:0030670	Hamartoma of the orbital region	1	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome		162
HP:0010566	HP:0004390	Hamartomatous polyposis	1	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5	.	162
HP:0010566	HP:0001054	Numerous nevi	1	PIK3CA CL E G H	5290	8975	OMIM:162900	Epidermal nevus, somatic	.	162
HP:0010566	HP:0004390	Hamartomatous polyposis	1	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome		665
HP:0010566	HP:0004390	Hamartomatous polyposis	1	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome		40
HP:0010566	HP:0004390	Hamartomatous polyposis	1	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome	HP:0040281 - Very frequent	948
HP:0010566	HP:0004390	Hamartomatous polyposis	1	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	948
HP:0010566	HP:0030670	Hamartoma of the orbital region	1	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome		948
HP:0010566	HP:0004390	Hamartomatous polyposis	1	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1	.	948
HP:0010566	HP:0004390	Hamartomatous polyposis	1	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040282 - Frequent	948
HP:0010566	HP:0100764	Lymphangioma	1	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent	948
HP:0010566	HP:0030670	Hamartoma of the orbital region	1	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome		948
HP:0010566	HP:0100764	Lymphangioma	1	PTEN CL E G H	5728	9588	ORPHA:137608	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome	HP:0040281 - Very frequent	948
HP:0010566	HP:0100764	Lymphangioma	1	PTH1R CL E G H	5745	9608	ORPHA:296	Ollier disease	HP:0040283 - Occasional	58
HP:0010566	HP:0030670	Hamartoma of the orbital region	1	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		572
HP:0010566	HP:0030670	Hamartoma of the orbital region	1	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		304
HP:0010566	HP:0030670	Hamartoma of the orbital region	1	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		55
HP:0010566	HP:0004390	Hamartomatous polyposis	1	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	237
HP:0010566	HP:0030670	Hamartoma of the orbital region	1	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome		237
HP:0010566	HP:0030670	Hamartoma of the orbital region	1	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		237
HP:0010566	HP:0004390	Hamartomatous polyposis	1	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	147
HP:0010566	HP:0030670	Hamartoma of the orbital region	1	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome		147
HP:0010566	HP:0030670	Hamartoma of the orbital region	1	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		147
HP:0010566	HP:0030670	Hamartoma of the orbital region	1	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome		129
HP:0010566	HP:0004390	Hamartomatous polyposis	1	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	129
HP:0010566	HP:0030670	Hamartoma of the orbital region	1	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		129
HP:0010566	HP:0030670	Hamartoma of the orbital region	1	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome		60
HP:0010566	HP:0004390	Hamartomatous polyposis	1	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	60
HP:0010566	HP:0009731	Cerebral hamartoma	1	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3		20
HP:0010566	HP:0030670	Hamartoma of the orbital region	1	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0010566	HP:0004390	Hamartomatous polyposis	1	SMAD4 CL E G H	4089	6770	OMIM:175050	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	.	504
HP:0010566	HP:0009731	Cerebral hamartoma	1	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included		22
HP:0010566	HP:0009731	Cerebral hamartoma	1	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3		33
HP:0010566	HP:0001054	Numerous nevi	1	STK11 CL E G H	6794	11389	OMIM:155600	Melanoma, cutaneous malignant	.	740
HP:0010566	HP:0004390	Hamartomatous polyposis	1	STK11 CL E G H	6794	11389	OMIM:175200	Peutz-Jeghers syndrome	.	740
HP:0010566	HP:0004390	Hamartomatous polyposis	1	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome		124
HP:0010566	HP:0009731	Cerebral hamartoma	1	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6		31
HP:0010566	HP:0009731	Cerebral hamartoma	1	TIAM1 CL E G H	7074	11805	OMIM:619908			2
HP:0010566	HP:0030670	Hamartoma of the orbital region	1	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		131
HP:0010566	HP:0009731	Cerebral hamartoma	1	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6		45
HP:0010566	HP:0009731	Cerebral hamartoma	1	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6		61
HP:0010566	HP:0030670	Hamartoma of the orbital region	1	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis		1090
HP:0010566	HP:0008696	Renal hamartoma	1	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis		1090
HP:0010566	HP:0030670	Hamartoma of the orbital region	1	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex		1090
HP:0010566	HP:0008696	Renal hamartoma	1	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex		1090
HP:0010566	HP:0009731	Cerebral hamartoma	1	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex		1090
HP:0010566	HP:0008696	Renal hamartoma	1	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1		1090
HP:0010566	HP:0009731	Cerebral hamartoma	1	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1		1090
HP:0010566	HP:0030670	Hamartoma of the orbital region	1	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis		2738
HP:0010566	HP:0008696	Renal hamartoma	1	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis		2738
HP:0010566	HP:0009731	Cerebral hamartoma	1	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex		2738
HP:0010566	HP:0030670	Hamartoma of the orbital region	1	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex		2738
HP:0010566	HP:0008696	Renal hamartoma	1	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex		2738
HP:0010566	HP:0030670	Hamartoma of the orbital region	1	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738
HP:0010566	HP:0008696	Renal hamartoma	1	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738
HP:0010566	HP:0009731	Cerebral hamartoma	1	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738
HP:0010566	HP:0004390	Hamartomatous polyposis	1	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	1
HP:0010566	HP:0030670	Hamartoma of the orbital region	1	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome		1
HP:0010566	HP:0030670	Hamartoma of the orbital region	1	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		490
HP:0010566	HP:0030670	Hamartoma of the orbital region	1	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease		490
HP:0010566	HP:0030670	Hamartoma of the orbital region	1	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome		490
HP:0010566	HP:0009731	Cerebral hamartoma	1	VPS16 CL E G H	64601	14584	OMIM:619291	DYSTONIA 30; DYT30
HP:0010566	HP:0030785	Mediastinal cystic lymphangioma	2	CL E G H
HP:0010566	HP:0500091	Lymphangioma of the orbit	2	CL E G H
HP:0010566	HP:0010568	Hamartoma of the eye	2	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome		54
HP:0010566	HP:0010568	Hamartoma of the eye	2	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome		54
HP:0010566	HP:0012198	Juvenile colonic polyposis	2	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040282 - Frequent	385
HP:0010566	HP:0012198	Juvenile colonic polyposis	2	BMPR1A CL E G H	657	1076	OMIM:610069	POLYPOSIS SYNDROME, HEREDITARY MIXED, 2; HMPS2		385
HP:0010566	HP:0010568	Hamartoma of the eye	2	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease		1
HP:0010566	HP:0010568	Hamartoma of the eye	2	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome		1
HP:0010566	HP:0006772	Renal angiomyolipoma	2	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4	HP:0040282 - Frequent	102
HP:0010566	HP:0006772	Renal angiomyolipoma	2	CDKN1B CL E G H	1027	1785	OMIM:610755	Multiple endocrine neoplasia, type IV	.	102
HP:0010566	HP:0002444	Hypothalamic hamartoma	2	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional
HP:0010566	HP:0002444	Hypothalamic hamartoma	2	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI	.
HP:0010566	HP:0010568	Hamartoma of the eye	2	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0010566	HP:0002444	Hypothalamic hamartoma	2	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional
HP:0010566	HP:0010568	Hamartoma of the eye	2	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		301
HP:0010566	HP:0009716	Subependymal nodules	2	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency	HP:0040282 - Frequent	115
HP:0010566	HP:0002444	Hypothalamic hamartoma	2	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0010566	HP:0002444	Hypothalamic hamartoma	2	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040280 - Obligate	270
HP:0010566	HP:0012198	Juvenile colonic polyposis	2	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040282 - Frequent	9
HP:0010566	HP:0009716	Subependymal nodules	2	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040281 - Very frequent	23
HP:0010566	HP:0009717	Cortical tubers	2	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040281 - Very frequent	23
HP:0010566	HP:0010568	Hamartoma of the eye	2	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex		23
HP:0010566	HP:0006772	Renal angiomyolipoma	2	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional	23
HP:0010566	HP:0006772	Renal angiomyolipoma	2	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2	.	23
HP:0010566	HP:0010568	Hamartoma of the eye	2	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0010566	HP:0009716	Subependymal nodules	2	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0010566	HP:0009717	Cortical tubers	2	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0010566	HP:0002444	Hypothalamic hamartoma	2	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	4
HP:0010566	HP:0010568	Hamartoma of the eye	2	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		202
HP:0010566	HP:0002444	Hypothalamic hamartoma	2	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	167
HP:0010566	HP:0010568	Hamartoma of the eye	2	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome		1
HP:0010566	HP:0010568	Hamartoma of the eye	2	KRT1 CL E G H	3848	6412	ORPHA:312	Autosomal dominant epidermolytic ichthyosis		100
HP:0010566	HP:0010568	Hamartoma of the eye	2	KRT10 CL E G H	3858	6413	ORPHA:312	Autosomal dominant epidermolytic ichthyosis		45
HP:0010566	HP:0002444	Hypothalamic hamartoma	2	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0010566	HP:0010568	Hamartoma of the eye	2	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		84
HP:0010566	HP:0010568	Hamartoma of the eye	2	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		4
HP:0010566	HP:0004784	Juvenile gastrointestinal polyposis	2	MSH3 CL E G H	4437	7326	ORPHA:480536	MSH3-related attenuated familial adenomatous polyposis	HP:0040281 - Very frequent	5
HP:0010566	HP:0010568	Hamartoma of the eye	2	MSH6 CL E G H	2956	7329	OMIM:619097	MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3		2232
HP:0010566	HP:0006772	Renal angiomyolipoma	2	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome		150
HP:0010566	HP:0010568	Hamartoma of the eye	2	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome		1952
HP:0010566	HP:0010568	Hamartoma of the eye	2	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		1952
HP:0010566	HP:0010568	Hamartoma of the eye	2	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion		1952
HP:0010566	HP:0010568	Hamartoma of the eye	2	NF1 CL E G H	4763	7765	OMIM:162210	Neurofibromatosis, familial spinal		1952
HP:0010566	HP:0010568	Hamartoma of the eye	2	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I		1952
HP:0010566	HP:0010568	Hamartoma of the eye	2	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome		1952
HP:0010566	HP:0010568	Hamartoma of the eye	2	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2		220
HP:0010566	HP:0010568	Hamartoma of the eye	2	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II		220
HP:0010566	HP:0002444	Hypothalamic hamartoma	2	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I	.	201
HP:0010566	HP:0002444	Hypothalamic hamartoma	2	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	201
HP:0010566	HP:0002444	Hypothalamic hamartoma	2	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	1
HP:0010566	HP:0010568	Hamartoma of the eye	2	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome		162
HP:0010566	HP:0004795	Hamartomatous stomach polyps	2	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome	.	665
HP:0010566	HP:0004795	Hamartomatous stomach polyps	2	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome	.	40
HP:0010566	HP:0010568	Hamartoma of the eye	2	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome		948
HP:0010566	HP:0010568	Hamartoma of the eye	2	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome		948
HP:0010566	HP:0010568	Hamartoma of the eye	2	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		572
HP:0010566	HP:0010568	Hamartoma of the eye	2	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		304
HP:0010566	HP:0010568	Hamartoma of the eye	2	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		55
HP:0010566	HP:0010568	Hamartoma of the eye	2	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome		237
HP:0010566	HP:0010568	Hamartoma of the eye	2	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		237
HP:0010566	HP:0010568	Hamartoma of the eye	2	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome		147
HP:0010566	HP:0010568	Hamartoma of the eye	2	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		147
HP:0010566	HP:0010568	Hamartoma of the eye	2	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome		129
HP:0010566	HP:0010568	Hamartoma of the eye	2	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		129
HP:0010566	HP:0010568	Hamartoma of the eye	2	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome		60
HP:0010566	HP:0002444	Hypothalamic hamartoma	2	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3	.	20
HP:0010566	HP:0010568	Hamartoma of the eye	2	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0010566	HP:0004784	Juvenile gastrointestinal polyposis	2	SMAD4 CL E G H	4089	6770	OMIM:175050	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome		504
HP:0010566	HP:0002444	Hypothalamic hamartoma	2	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included	.	22
HP:0010566	HP:0002444	Hypothalamic hamartoma	2	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3	.	33
HP:0010566	HP:0004795	Hamartomatous stomach polyps	2	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome	.	124
HP:0010566	HP:0002444	Hypothalamic hamartoma	2	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	31
HP:0010566	HP:0002444	Hypothalamic hamartoma	2	TIAM1 CL E G H	7074	11805	OMIM:619908			2
HP:0010566	HP:0010568	Hamartoma of the eye	2	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		131
HP:0010566	HP:0002444	Hypothalamic hamartoma	2	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	45
HP:0010566	HP:0002444	Hypothalamic hamartoma	2	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	61
HP:0010566	HP:0006772	Renal angiomyolipoma	2	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis	HP:0040282 - Frequent	1090
HP:0010566	HP:0010568	Hamartoma of the eye	2	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis		1090
HP:0010566	HP:0009716	Subependymal nodules	2	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040281 - Very frequent	1090
HP:0010566	HP:0009717	Cortical tubers	2	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040281 - Very frequent	1090
HP:0010566	HP:0010568	Hamartoma of the eye	2	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex		1090
HP:0010566	HP:0006772	Renal angiomyolipoma	2	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional	1090
HP:0010566	HP:0006772	Renal angiomyolipoma	2	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1		1090
HP:0010566	HP:0009716	Subependymal nodules	2	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1	.	1090
HP:0010566	HP:0009717	Cortical tubers	2	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1	.	1090
HP:0010566	HP:0010568	Hamartoma of the eye	2	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis		2738
HP:0010566	HP:0006772	Renal angiomyolipoma	2	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis	HP:0040282 - Frequent	2738
HP:0010566	HP:0006772	Renal angiomyolipoma	2	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional	2738
HP:0010566	HP:0010568	Hamartoma of the eye	2	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex		2738
HP:0010566	HP:0009716	Subependymal nodules	2	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040281 - Very frequent	2738
HP:0010566	HP:0009717	Cortical tubers	2	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040281 - Very frequent	2738
HP:0010566	HP:0009716	Subependymal nodules	2	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738
HP:0010566	HP:0009717	Cortical tubers	2	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738
HP:0010566	HP:0010568	Hamartoma of the eye	2	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738
HP:0010566	HP:0006772	Renal angiomyolipoma	2	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2	.	2738
HP:0010566	HP:0010568	Hamartoma of the eye	2	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome		1
HP:0010566	HP:0010568	Hamartoma of the eye	2	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		490
HP:0010566	HP:0010568	Hamartoma of the eye	2	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease		490
HP:0010566	HP:0010568	Hamartoma of the eye	2	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome		490
HP:0010566	HP:0002444	Hypothalamic hamartoma	2	VPS16 CL E G H	64601	14584	OMIM:619291	DYSTONIA 30; DYT30
HP:0010566	HP:0100780	Conjunctival hamartoma	3	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	54
HP:0010566	HP:0009594	Retinal hamartoma	3	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	54
HP:0010566	HP:0009594	Retinal hamartoma	3	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease		1
HP:0010566	HP:0009594	Retinal hamartoma	3	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome		1
HP:0010566	HP:0009594	Retinal hamartoma	3	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0010566	HP:0009594	Retinal hamartoma	3	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		301
HP:0010566	HP:0009594	Retinal hamartoma	3	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent	23
HP:0010566	HP:0009594	Retinal hamartoma	3	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0010566	HP:0009594	Retinal hamartoma	3	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		202
HP:0010566	HP:0100780	Conjunctival hamartoma	3	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	1
HP:0010566	HP:0100780	Conjunctival hamartoma	3	KRT1 CL E G H	3848	6412	ORPHA:312	Autosomal dominant epidermolytic ichthyosis	HP:0040283 - Occasional	100
HP:0010566	HP:0100780	Conjunctival hamartoma	3	KRT10 CL E G H	3858	6413	ORPHA:312	Autosomal dominant epidermolytic ichthyosis	HP:0040283 - Occasional	45
HP:0010566	HP:0009594	Retinal hamartoma	3	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		84
HP:0010566	HP:0009594	Retinal hamartoma	3	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		4
HP:0010566	HP:0009737	Lisch nodules	3	MSH6 CL E G H	2956	7329	OMIM:619097	MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3		2232
HP:0010566	HP:0009737	Lisch nodules	3	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040282 - Frequent	1952
HP:0010566	HP:0009594	Retinal hamartoma	3	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		1952
HP:0010566	HP:0009737	Lisch nodules	3	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040282 - Frequent	1952
HP:0010566	HP:0009737	Lisch nodules	3	NF1 CL E G H	4763	7765	OMIM:162210	Neurofibromatosis, familial spinal	.	1952
HP:0010566	HP:0009737	Lisch nodules	3	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I		1952
HP:0010566	HP:0009737	Lisch nodules	3	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome		1952
HP:0010566	HP:0009594	Retinal hamartoma	3	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2	HP:0040283 - Occasional	220
HP:0010566	HP:0009594	Retinal hamartoma	3	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II		220
HP:0010566	HP:0100780	Conjunctival hamartoma	3	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	162
HP:0010566	HP:0100780	Conjunctival hamartoma	3	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	948
HP:0010566	HP:0009594	Retinal hamartoma	3	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	948
HP:0010566	HP:0009594	Retinal hamartoma	3	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		572
HP:0010566	HP:0009594	Retinal hamartoma	3	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		304
HP:0010566	HP:0009594	Retinal hamartoma	3	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		55
HP:0010566	HP:0100780	Conjunctival hamartoma	3	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	237
HP:0010566	HP:0009594	Retinal hamartoma	3	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		237
HP:0010566	HP:0100780	Conjunctival hamartoma	3	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	147
HP:0010566	HP:0009594	Retinal hamartoma	3	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		147
HP:0010566	HP:0100780	Conjunctival hamartoma	3	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	129
HP:0010566	HP:0009594	Retinal hamartoma	3	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		129
HP:0010566	HP:0100780	Conjunctival hamartoma	3	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	60
HP:0010566	HP:0009594	Retinal hamartoma	3	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0010566	HP:0009594	Retinal hamartoma	3	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		131
HP:0010566	HP:0009594	Retinal hamartoma	3	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis	HP:0040283 - Occasional	1090
HP:0010566	HP:0009594	Retinal hamartoma	3	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent	1090
HP:0010566	HP:0009594	Retinal hamartoma	3	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis	HP:0040283 - Occasional	2738
HP:0010566	HP:0009594	Retinal hamartoma	3	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent	2738
HP:0010566	HP:0009594	Retinal hamartoma	3	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738
HP:0010566	HP:0100780	Conjunctival hamartoma	3	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	1
HP:0010566	HP:0009594	Retinal hamartoma	3	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		490
HP:0010566	HP:0009594	Retinal hamartoma	3	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease		490
HP:0010566	HP:0009594	Retinal hamartoma	3	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome		490
HP:0010566	HP:0030510	Combined hamartoma of the retinal pigment epithelium and retina	4	CL E G H
HP:0010566	HP:0030509	Retinal racemose hemangioma	4	CL E G H
HP:0010566	HP:0030508	Retinal cavernous hemangioma	4	CL E G H
HP:0010566	HP:0009711	Retinal capillary hemangioma	4	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease	HP:0040282 - Frequent	1
HP:0010566	HP:0009711	Retinal capillary hemangioma	4	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome	.	1
HP:0010566	HP:0009711	Retinal capillary hemangioma	4	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional
HP:0010566	HP:0009711	Retinal capillary hemangioma	4	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	301
HP:0010566	HP:0012778	Retinal astrocytic hamartoma	4	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040284 - Very rare	23
HP:0010566	HP:0009711	Retinal capillary hemangioma	4	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	202
HP:0010566	HP:0009711	Retinal capillary hemangioma	4	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	84
HP:0010566	HP:0009711	Retinal capillary hemangioma	4	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	4
HP:0010566	HP:0009711	Retinal capillary hemangioma	4	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	1952
HP:0010566	HP:0009711	Retinal capillary hemangioma	4	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	572
HP:0010566	HP:0009711	Retinal capillary hemangioma	4	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	304
HP:0010566	HP:0009711	Retinal capillary hemangioma	4	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	55
HP:0010566	HP:0009711	Retinal capillary hemangioma	4	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	237
HP:0010566	HP:0009711	Retinal capillary hemangioma	4	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	147
HP:0010566	HP:0009711	Retinal capillary hemangioma	4	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	129
HP:0010566	HP:0009711	Retinal capillary hemangioma	4	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional
HP:0010566	HP:0009711	Retinal capillary hemangioma	4	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	131
HP:0010566	HP:0012778	Retinal astrocytic hamartoma	4	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040284 - Very rare	1090
HP:0010566	HP:0012778	Retinal astrocytic hamartoma	4	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040284 - Very rare	2738
HP:0010566	HP:0009711	Retinal capillary hemangioma	4	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	490
HP:0010566	HP:0009711	Retinal capillary hemangioma	4	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease	HP:0040282 - Frequent	490
HP:0010566	HP:0009711	Retinal capillary hemangioma	4	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome	.	490