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:
Hamartoma (HP:0010566)

Grandparent Node:
Hamartoma of the orbital region (HP:0030670)

Grandparent Node:
Neoplasm of the eye (HP:0100012)

Parent Node:
Abnormal retinal morphology (HP:0000479)

Parent Node:
Hamartoma of the eye (HP:0010568)

..Starting node
..Retinal hamartoma (HP:0009594)

Term ID:

9594

Name:

Retinal hamartoma

Synonym:

Definition:

A hamartoma (a benign, focal malformation consisting of a disorganized mixture of cells and tissues) of the retina.

Comments:

Reference:

HP:0009594

Genes and Diseases:

Child Nodes:

........

Retinal capillary hemangioma (HP:0009711)

........

Retinal astrocytic hamartoma (HP:0012778)

........

Retinal cavernous hemangioma (HP:0030508)

........

Retinal racemose hemangioma (HP:0030509)

........

Combined hamartoma of the retinal pigment epithelium and retina (HP:0030510)

Sister Nodes:

Conjunctival hamartoma (HP:0100780)

Lisch nodules (HP:0009737)

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:0009594	HP:0009594	Retinal hamartoma	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	54
HP:0009594	HP:0009594	Retinal hamartoma	0	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease		1
HP:0009594	HP:0009594	Retinal hamartoma	0	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome		1
HP:0009594	HP:0009594	Retinal hamartoma	0	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0009594	HP:0009594	Retinal hamartoma	0	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		301
HP:0009594	HP:0009594	Retinal hamartoma	0	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent	23
HP:0009594	HP:0009594	Retinal hamartoma	0	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0009594	HP:0009594	Retinal hamartoma	0	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		202
HP:0009594	HP:0009594	Retinal hamartoma	0	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		84
HP:0009594	HP:0009594	Retinal hamartoma	0	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		4
HP:0009594	HP:0009594	Retinal hamartoma	0	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		1952
HP:0009594	HP:0009594	Retinal hamartoma	0	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2	HP:0040283 - Occasional	220
HP:0009594	HP:0009594	Retinal hamartoma	0	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II		220
HP:0009594	HP:0009594	Retinal hamartoma	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	948
HP:0009594	HP:0009594	Retinal hamartoma	0	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		572
HP:0009594	HP:0009594	Retinal hamartoma	0	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		304
HP:0009594	HP:0009594	Retinal hamartoma	0	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		55
HP:0009594	HP:0009594	Retinal hamartoma	0	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		237
HP:0009594	HP:0009594	Retinal hamartoma	0	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		147
HP:0009594	HP:0009594	Retinal hamartoma	0	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		129
HP:0009594	HP:0009594	Retinal hamartoma	0	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0009594	HP:0009594	Retinal hamartoma	0	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		131
HP:0009594	HP:0009594	Retinal hamartoma	0	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis	HP:0040283 - Occasional	1090
HP:0009594	HP:0009594	Retinal hamartoma	0	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent	1090
HP:0009594	HP:0009594	Retinal hamartoma	0	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis	HP:0040283 - Occasional	2738
HP:0009594	HP:0009594	Retinal hamartoma	0	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent	2738
HP:0009594	HP:0009594	Retinal hamartoma	0	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738
HP:0009594	HP:0009594	Retinal hamartoma	0	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		490
HP:0009594	HP:0009594	Retinal hamartoma	0	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease		490
HP:0009594	HP:0009594	Retinal hamartoma	0	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome		490
HP:0009594	HP:0030510	Combined hamartoma of the retinal pigment epithelium and retina	1	CL E G H
HP:0009594	HP:0030509	Retinal racemose hemangioma	1	CL E G H
HP:0009594	HP:0030508	Retinal cavernous hemangioma	1	CL E G H
HP:0009594	HP:0009711	Retinal capillary hemangioma	1	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease	HP:0040282 - Frequent	1
HP:0009594	HP:0009711	Retinal capillary hemangioma	1	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome	.	1
HP:0009594	HP:0009711	Retinal capillary hemangioma	1	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional
HP:0009594	HP:0009711	Retinal capillary hemangioma	1	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	301
HP:0009594	HP:0012778	Retinal astrocytic hamartoma	1	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040284 - Very rare	23
HP:0009594	HP:0009711	Retinal capillary hemangioma	1	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	202
HP:0009594	HP:0009711	Retinal capillary hemangioma	1	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	84
HP:0009594	HP:0009711	Retinal capillary hemangioma	1	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	4
HP:0009594	HP:0009711	Retinal capillary hemangioma	1	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	1952
HP:0009594	HP:0009711	Retinal capillary hemangioma	1	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	572
HP:0009594	HP:0009711	Retinal capillary hemangioma	1	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	304
HP:0009594	HP:0009711	Retinal capillary hemangioma	1	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	55
HP:0009594	HP:0009711	Retinal capillary hemangioma	1	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	237
HP:0009594	HP:0009711	Retinal capillary hemangioma	1	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	147
HP:0009594	HP:0009711	Retinal capillary hemangioma	1	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	129
HP:0009594	HP:0009711	Retinal capillary hemangioma	1	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional
HP:0009594	HP:0009711	Retinal capillary hemangioma	1	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	131
HP:0009594	HP:0012778	Retinal astrocytic hamartoma	1	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040284 - Very rare	1090
HP:0009594	HP:0012778	Retinal astrocytic hamartoma	1	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040284 - Very rare	2738
HP:0009594	HP:0009711	Retinal capillary hemangioma	1	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	490
HP:0009594	HP:0009711	Retinal capillary hemangioma	1	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease	HP:0040282 - Frequent	490
HP:0009594	HP:0009711	Retinal capillary hemangioma	1	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome	.	490

Genes (22) :AKT1 CCND1 DLST FH IFNG KIF1B MAX MDH2 NF1 NF2 PTEN RET SDHA SDHAF2 SDHB SDHC SDHD SLC25A11 TMEM127 TSC1 TSC2 VHL

Diseases (9) :ORPHA:744 ORPHA:892 OMIM:193300 ORPHA:29072 ORPHA:805 OMIM:613254 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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