Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of the face (HP:0000271)

Parent Node:
Abnormality of the orbital region (HP:0000315)

..Starting node
..Hamartoma of the orbital region (HP:0030670)

Term ID:

30670

Name:

Hamartoma of the orbital region

Synonym:

Definition:

A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the orbital region.

Comments:

Reference:

HP:0030670

Genes and Diseases:

Child Nodes:

........

Hamartoma of the eye (HP:0010568)

................... HP:0009594 Retinal hamartoma
................... HP:0009737 Lisch nodules
................... HP:0100780 Conjunctival hamartoma

........

Lymphangioma of the orbit (HP:0500091)

Sister Nodes:

Abnormal morphology of bony orbit of skull (HP:3000030)

Abnormal ocular adnexa morphology (HP:0030669)

Abnormality of globe location (HP:0100886)

Abnormality of globe size (HP:0100887)

Coloboma (HP:0000589)

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:0030670	HP:0030670	Hamartoma of the orbital region	0	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome		54
HP:0030670	HP:0030670	Hamartoma of the orbital region	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome		54
HP:0030670	HP:0030670	Hamartoma of the orbital region	0	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease		1
HP:0030670	HP:0030670	Hamartoma of the orbital region	0	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome		1
HP:0030670	HP:0030670	Hamartoma of the orbital region	0	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0030670	HP:0030670	Hamartoma of the orbital region	0	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		301
HP:0030670	HP:0030670	Hamartoma of the orbital region	0	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex		23
HP:0030670	HP:0030670	Hamartoma of the orbital region	0	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0030670	HP:0030670	Hamartoma of the orbital region	0	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		202
HP:0030670	HP:0030670	Hamartoma of the orbital region	0	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome		1
HP:0030670	HP:0030670	Hamartoma of the orbital region	0	KRT1 CL E G H	3848	6412	ORPHA:312	Autosomal dominant epidermolytic ichthyosis		100
HP:0030670	HP:0030670	Hamartoma of the orbital region	0	KRT10 CL E G H	3858	6413	ORPHA:312	Autosomal dominant epidermolytic ichthyosis		45
HP:0030670	HP:0030670	Hamartoma of the orbital region	0	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		84
HP:0030670	HP:0030670	Hamartoma of the orbital region	0	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		4
HP:0030670	HP:0030670	Hamartoma of the orbital region	0	MSH6 CL E G H	2956	7329	OMIM:619097	MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3		2232
HP:0030670	HP:0030670	Hamartoma of the orbital region	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome		1952
HP:0030670	HP:0030670	Hamartoma of the orbital region	0	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		1952
HP:0030670	HP:0030670	Hamartoma of the orbital region	0	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion		1952
HP:0030670	HP:0030670	Hamartoma of the orbital region	0	NF1 CL E G H	4763	7765	OMIM:162210	Neurofibromatosis, familial spinal		1952
HP:0030670	HP:0030670	Hamartoma of the orbital region	0	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I		1952
HP:0030670	HP:0030670	Hamartoma of the orbital region	0	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome		1952
HP:0030670	HP:0030670	Hamartoma of the orbital region	0	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2		220
HP:0030670	HP:0030670	Hamartoma of the orbital region	0	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II		220
HP:0030670	HP:0030670	Hamartoma of the orbital region	0	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome		162
HP:0030670	HP:0030670	Hamartoma of the orbital region	0	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome		948
HP:0030670	HP:0030670	Hamartoma of the orbital region	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome		948
HP:0030670	HP:0030670	Hamartoma of the orbital region	0	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		572
HP:0030670	HP:0030670	Hamartoma of the orbital region	0	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		304
HP:0030670	HP:0030670	Hamartoma of the orbital region	0	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		55
HP:0030670	HP:0030670	Hamartoma of the orbital region	0	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome		237
HP:0030670	HP:0030670	Hamartoma of the orbital region	0	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		237
HP:0030670	HP:0030670	Hamartoma of the orbital region	0	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome		147
HP:0030670	HP:0030670	Hamartoma of the orbital region	0	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		147
HP:0030670	HP:0030670	Hamartoma of the orbital region	0	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome		129
HP:0030670	HP:0030670	Hamartoma of the orbital region	0	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		129
HP:0030670	HP:0030670	Hamartoma of the orbital region	0	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome		60
HP:0030670	HP:0030670	Hamartoma of the orbital region	0	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0030670	HP:0030670	Hamartoma of the orbital region	0	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		131
HP:0030670	HP:0030670	Hamartoma of the orbital region	0	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis		1090
HP:0030670	HP:0030670	Hamartoma of the orbital region	0	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex		1090
HP:0030670	HP:0030670	Hamartoma of the orbital region	0	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis		2738
HP:0030670	HP:0030670	Hamartoma of the orbital region	0	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex		2738
HP:0030670	HP:0030670	Hamartoma of the orbital region	0	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738
HP:0030670	HP:0030670	Hamartoma of the orbital region	0	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome		1
HP:0030670	HP:0030670	Hamartoma of the orbital region	0	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		490
HP:0030670	HP:0030670	Hamartoma of the orbital region	0	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease		490
HP:0030670	HP:0030670	Hamartoma of the orbital region	0	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome		490
HP:0030670	HP:0500091	Lymphangioma of the orbit	1	CL E G H
HP:0030670	HP:0010568	Hamartoma of the eye	1	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome		54
HP:0030670	HP:0010568	Hamartoma of the eye	1	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome		54
HP:0030670	HP:0010568	Hamartoma of the eye	1	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease		1
HP:0030670	HP:0010568	Hamartoma of the eye	1	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome		1
HP:0030670	HP:0010568	Hamartoma of the eye	1	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0030670	HP:0010568	Hamartoma of the eye	1	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		301
HP:0030670	HP:0010568	Hamartoma of the eye	1	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex		23
HP:0030670	HP:0010568	Hamartoma of the eye	1	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0030670	HP:0010568	Hamartoma of the eye	1	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		202
HP:0030670	HP:0010568	Hamartoma of the eye	1	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome		1
HP:0030670	HP:0010568	Hamartoma of the eye	1	KRT1 CL E G H	3848	6412	ORPHA:312	Autosomal dominant epidermolytic ichthyosis		100
HP:0030670	HP:0010568	Hamartoma of the eye	1	KRT10 CL E G H	3858	6413	ORPHA:312	Autosomal dominant epidermolytic ichthyosis		45
HP:0030670	HP:0010568	Hamartoma of the eye	1	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		84
HP:0030670	HP:0010568	Hamartoma of the eye	1	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		4
HP:0030670	HP:0010568	Hamartoma of the eye	1	MSH6 CL E G H	2956	7329	OMIM:619097	MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3		2232
HP:0030670	HP:0010568	Hamartoma of the eye	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome		1952
HP:0030670	HP:0010568	Hamartoma of the eye	1	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		1952
HP:0030670	HP:0010568	Hamartoma of the eye	1	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion		1952
HP:0030670	HP:0010568	Hamartoma of the eye	1	NF1 CL E G H	4763	7765	OMIM:162210	Neurofibromatosis, familial spinal		1952
HP:0030670	HP:0010568	Hamartoma of the eye	1	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I		1952
HP:0030670	HP:0010568	Hamartoma of the eye	1	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome		1952
HP:0030670	HP:0010568	Hamartoma of the eye	1	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2		220
HP:0030670	HP:0010568	Hamartoma of the eye	1	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II		220
HP:0030670	HP:0010568	Hamartoma of the eye	1	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome		162
HP:0030670	HP:0010568	Hamartoma of the eye	1	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome		948
HP:0030670	HP:0010568	Hamartoma of the eye	1	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome		948
HP:0030670	HP:0010568	Hamartoma of the eye	1	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		572
HP:0030670	HP:0010568	Hamartoma of the eye	1	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		304
HP:0030670	HP:0010568	Hamartoma of the eye	1	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		55
HP:0030670	HP:0010568	Hamartoma of the eye	1	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome		237
HP:0030670	HP:0010568	Hamartoma of the eye	1	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		237
HP:0030670	HP:0010568	Hamartoma of the eye	1	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome		147
HP:0030670	HP:0010568	Hamartoma of the eye	1	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		147
HP:0030670	HP:0010568	Hamartoma of the eye	1	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome		129
HP:0030670	HP:0010568	Hamartoma of the eye	1	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		129
HP:0030670	HP:0010568	Hamartoma of the eye	1	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome		60
HP:0030670	HP:0010568	Hamartoma of the eye	1	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0030670	HP:0010568	Hamartoma of the eye	1	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		131
HP:0030670	HP:0010568	Hamartoma of the eye	1	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis		1090
HP:0030670	HP:0010568	Hamartoma of the eye	1	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex		1090
HP:0030670	HP:0010568	Hamartoma of the eye	1	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis		2738
HP:0030670	HP:0010568	Hamartoma of the eye	1	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex		2738
HP:0030670	HP:0010568	Hamartoma of the eye	1	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738
HP:0030670	HP:0010568	Hamartoma of the eye	1	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome		1
HP:0030670	HP:0010568	Hamartoma of the eye	1	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		490
HP:0030670	HP:0010568	Hamartoma of the eye	1	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease		490
HP:0030670	HP:0010568	Hamartoma of the eye	1	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome		490
HP:0030670	HP:0100780	Conjunctival hamartoma	2	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	54
HP:0030670	HP:0009594	Retinal hamartoma	2	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	54
HP:0030670	HP:0009594	Retinal hamartoma	2	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease		1
HP:0030670	HP:0009594	Retinal hamartoma	2	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome		1
HP:0030670	HP:0009594	Retinal hamartoma	2	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0030670	HP:0009594	Retinal hamartoma	2	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		301
HP:0030670	HP:0009594	Retinal hamartoma	2	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent	23
HP:0030670	HP:0009594	Retinal hamartoma	2	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0030670	HP:0009594	Retinal hamartoma	2	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		202
HP:0030670	HP:0100780	Conjunctival hamartoma	2	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	1
HP:0030670	HP:0100780	Conjunctival hamartoma	2	KRT1 CL E G H	3848	6412	ORPHA:312	Autosomal dominant epidermolytic ichthyosis	HP:0040283 - Occasional	100
HP:0030670	HP:0100780	Conjunctival hamartoma	2	KRT10 CL E G H	3858	6413	ORPHA:312	Autosomal dominant epidermolytic ichthyosis	HP:0040283 - Occasional	45
HP:0030670	HP:0009594	Retinal hamartoma	2	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		84
HP:0030670	HP:0009594	Retinal hamartoma	2	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		4
HP:0030670	HP:0009737	Lisch nodules	2	MSH6 CL E G H	2956	7329	OMIM:619097	MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3		2232
HP:0030670	HP:0009737	Lisch nodules	2	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040282 - Frequent	1952
HP:0030670	HP:0009594	Retinal hamartoma	2	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		1952
HP:0030670	HP:0009737	Lisch nodules	2	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040282 - Frequent	1952
HP:0030670	HP:0009737	Lisch nodules	2	NF1 CL E G H	4763	7765	OMIM:162210	Neurofibromatosis, familial spinal	.	1952
HP:0030670	HP:0009737	Lisch nodules	2	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I		1952
HP:0030670	HP:0009737	Lisch nodules	2	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome		1952
HP:0030670	HP:0009594	Retinal hamartoma	2	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2	HP:0040283 - Occasional	220
HP:0030670	HP:0009594	Retinal hamartoma	2	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II		220
HP:0030670	HP:0100780	Conjunctival hamartoma	2	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	162
HP:0030670	HP:0100780	Conjunctival hamartoma	2	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	948
HP:0030670	HP:0009594	Retinal hamartoma	2	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	948
HP:0030670	HP:0009594	Retinal hamartoma	2	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		572
HP:0030670	HP:0009594	Retinal hamartoma	2	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		304
HP:0030670	HP:0009594	Retinal hamartoma	2	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		55
HP:0030670	HP:0100780	Conjunctival hamartoma	2	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	237
HP:0030670	HP:0009594	Retinal hamartoma	2	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		237
HP:0030670	HP:0100780	Conjunctival hamartoma	2	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	147
HP:0030670	HP:0009594	Retinal hamartoma	2	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		147
HP:0030670	HP:0100780	Conjunctival hamartoma	2	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	129
HP:0030670	HP:0009594	Retinal hamartoma	2	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		129
HP:0030670	HP:0100780	Conjunctival hamartoma	2	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	60
HP:0030670	HP:0009594	Retinal hamartoma	2	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0030670	HP:0009594	Retinal hamartoma	2	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		131
HP:0030670	HP:0009594	Retinal hamartoma	2	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis	HP:0040283 - Occasional	1090
HP:0030670	HP:0009594	Retinal hamartoma	2	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent	1090
HP:0030670	HP:0009594	Retinal hamartoma	2	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis	HP:0040283 - Occasional	2738
HP:0030670	HP:0009594	Retinal hamartoma	2	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent	2738
HP:0030670	HP:0009594	Retinal hamartoma	2	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738
HP:0030670	HP:0100780	Conjunctival hamartoma	2	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	1
HP:0030670	HP:0009594	Retinal hamartoma	2	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		490
HP:0030670	HP:0009594	Retinal hamartoma	2	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease		490
HP:0030670	HP:0009594	Retinal hamartoma	2	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome		490
HP:0030670	HP:0030510	Combined hamartoma of the retinal pigment epithelium and retina	3	CL E G H
HP:0030670	HP:0030509	Retinal racemose hemangioma	3	CL E G H
HP:0030670	HP:0030508	Retinal cavernous hemangioma	3	CL E G H
HP:0030670	HP:0009711	Retinal capillary hemangioma	3	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease	HP:0040282 - Frequent	1
HP:0030670	HP:0009711	Retinal capillary hemangioma	3	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome	.	1
HP:0030670	HP:0009711	Retinal capillary hemangioma	3	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional
HP:0030670	HP:0009711	Retinal capillary hemangioma	3	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	301
HP:0030670	HP:0012778	Retinal astrocytic hamartoma	3	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040284 - Very rare	23
HP:0030670	HP:0009711	Retinal capillary hemangioma	3	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	202
HP:0030670	HP:0009711	Retinal capillary hemangioma	3	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	84
HP:0030670	HP:0009711	Retinal capillary hemangioma	3	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	4
HP:0030670	HP:0009711	Retinal capillary hemangioma	3	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	1952
HP:0030670	HP:0009711	Retinal capillary hemangioma	3	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	572
HP:0030670	HP:0009711	Retinal capillary hemangioma	3	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	304
HP:0030670	HP:0009711	Retinal capillary hemangioma	3	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	55
HP:0030670	HP:0009711	Retinal capillary hemangioma	3	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	237
HP:0030670	HP:0009711	Retinal capillary hemangioma	3	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	147
HP:0030670	HP:0009711	Retinal capillary hemangioma	3	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	129
HP:0030670	HP:0009711	Retinal capillary hemangioma	3	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional
HP:0030670	HP:0009711	Retinal capillary hemangioma	3	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	131
HP:0030670	HP:0012778	Retinal astrocytic hamartoma	3	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040284 - Very rare	1090
HP:0030670	HP:0012778	Retinal astrocytic hamartoma	3	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040284 - Very rare	2738
HP:0030670	HP:0009711	Retinal capillary hemangioma	3	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	490
HP:0030670	HP:0009711	Retinal capillary hemangioma	3	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease	HP:0040282 - Frequent	490
HP:0030670	HP:0009711	Retinal capillary hemangioma	3	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome	.	490

Genes (29) :AKT1 CCND1 DLST FH IFNG KIF1B KLLN KRT1 KRT10 MAX MDH2 MSH6 NF1 NF2 PIK3CA PTEN RET SDHA SDHAF2 SDHB SDHC SDHD SEC23B SLC25A11 TMEM127 TSC1 TSC2 USF3 VHL

Diseases (17) :ORPHA:201 ORPHA:744 ORPHA:892 OMIM:193300 ORPHA:29072 ORPHA:805 OMIM:613254 ORPHA:312 OMIM:619097 ORPHA:97685 ORPHA:363700 OMIM:162210 OMIM:162200 OMIM:601321 ORPHA:637 OMIM:101000 ORPHA:538

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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