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:
Abnormal retinal morphology (HP:0000479)

Parent Node:
Yellow/white lesions of the retina (HP:0030506)

..Starting node
..Drusen (HP:0011510)

Term ID:

11510

Name:

Drusen

Synonym:

Definition:

Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye.

Comments:

Reference:

HP:0011510

Genes and Diseases:

Child Nodes:

........

Optic disc drusen (HP:0012426)

........

Macular drusen (HP:0030499)

Sister Nodes:

Retinal calcification (HP:0007862)

Retinal cotton wool spot (HP:0031606)

Retinal crystals (HP:0030507)

Retinal exudate (HP:0001147)

Retinal flecks (HP:0012045)

Vitelliform-like retinal lesions (HP:0030643)

Yellow/white lesions of the macula (HP:0030500)

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:0011510	HP:0011510	Drusen	0	ABCC6 CL E G H	368	57	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		415
HP:0011510	HP:0011510	Drusen	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional	404
HP:0011510	HP:0011510	Drusen	0	APOE CL E G H	348	613	OMIM:603075	Macular degeneration, age-related, 1		39
HP:0011510	HP:0011510	Drusen	0	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration	HP:0040282 - Frequent	20
HP:0011510	HP:0011510	Drusen	0	CFH CL E G H	3075	4883	OMIM:126700	Basal laminar drusen	.	86
HP:0011510	HP:0011510	Drusen	0	CFH CL E G H	3075	4883	ORPHA:75376	Familial drusen		86
HP:0011510	HP:0011510	Drusen	0	CFHR1 CL E G H	3078	4888	OMIM:603075	Macular degeneration, age-related, 1
HP:0011510	HP:0011510	Drusen	0	CFHR3 CL E G H	10878	16980	OMIM:603075	Macular degeneration, age-related, 1
HP:0011510	HP:0011510	Drusen	0	CFI CL E G H	3426	5394	ORPHA:75376	Familial drusen		57
HP:0011510	HP:0011510	Drusen	0	CFI CL E G H	3426	5394	OMIM:615439	Macular degeneration, age-related, 13	.	57
HP:0011510	HP:0011510	Drusen	0	CTNNA1 CL E G H	1495	2509	OMIM:608970	Macular dystrophy, patterned, 2	.	141
HP:0011510	HP:0011510	Drusen	0	EFEMP1 CL E G H	2202	3218	ORPHA:75376	Familial drusen		54
HP:0011510	HP:0011510	Drusen	0	ESPN CL E G H	83715	13281	OMIM:618632	USHER SYNDROME, TYPE 1M; USH1M		33
HP:0011510	HP:0011510	Drusen	0	FBLN5 CL E G H	10516	3602	OMIM:608895	Macular degeneration, age-related, 3		63
HP:0011510	HP:0011510	Drusen	0	GUCA1A CL E G H	2978	4678	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040283 - Occasional	24
HP:0011510	HP:0011510	Drusen	0	GUCY2D CL E G H	3000	4689	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040283 - Occasional	124
HP:0011510	HP:0011510	Drusen	0	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I		124
HP:0011510	HP:0011510	Drusen	0	HMCN1 CL E G H	83872	19194	OMIM:603075	Macular degeneration, age-related, 1		262
HP:0011510	HP:0011510	Drusen	0	IFT172 CL E G H	26160	30391	OMIM:616394	Retinitis pigmentosa 71	.	48
HP:0011510	HP:0011510	Drusen	0	IMPG1 CL E G H	3617	6055	OMIM:616151	Macular dystrophy, vitelliform, 4	.	4
HP:0011510	HP:0011510	Drusen	0	LCA5 CL E G H	167691	31923	ORPHA:364055	Severe early-childhood-onset retinal dystrophy		70
HP:0011510	HP:0011510	Drusen	0	LOC111365204 CL E G H	111365204		OMIM:136550	Macular dystrophy, retinal, 1, north Carolina type	.
HP:0011510	HP:0011510	Drusen	0	LRAT CL E G H	9227	6685	ORPHA:364055	Severe early-childhood-onset retinal dystrophy		62
HP:0011510	HP:0011510	Drusen	0	MFRP CL E G H	83552	18121	OMIM:611040	Microphthalmia, isolated 5	.	26
HP:0011510	HP:0011510	Drusen	0	PRPF8 CL E G H	10594	17340	OMIM:600059	Retinitis pigmentosa 13		94
HP:0011510	HP:0011510	Drusen	0	PRPH2 CL E G H	5961	9942	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040283 - Occasional	159
HP:0011510	HP:0011510	Drusen	0	PRPH2 CL E G H	5961	9942	OMIM:608161	Macular dystrophy, vitelliform, 3	.	159
HP:0011510	HP:0011510	Drusen	0	RPE65 CL E G H	6121	10294	ORPHA:364055	Severe early-childhood-onset retinal dystrophy		129
HP:0011510	HP:0011510	Drusen	0	SPATA7 CL E G H	55812	20423	ORPHA:364055	Severe early-childhood-onset retinal dystrophy		48
HP:0011510	HP:0011510	Drusen	0	TMEM98 CL E G H	26022	24529	OMIM:615972	Nanophthalmos 4		3
HP:0011510	HP:0011510	Drusen	0	XYLT1 CL E G H	64131	15516	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		14
HP:0011510	HP:0011510	Drusen	0	XYLT2 CL E G H	64132	15517	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		5
HP:0011510	HP:0012426	Optic disc drusen	1	ABCC6 CL E G H	368	57	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		415
HP:0011510	HP:0030499	Macular drusen	1	APOE CL E G H	348	613	OMIM:603075	Macular degeneration, age-related, 1		39
HP:0011510	HP:0030499	Macular drusen	1	CFH CL E G H	3075	4883	ORPHA:75376	Familial drusen	HP:0040280 - Obligate	86
HP:0011510	HP:0030499	Macular drusen	1	CFHR1 CL E G H	3078	4888	OMIM:603075	Macular degeneration, age-related, 1
HP:0011510	HP:0030499	Macular drusen	1	CFHR3 CL E G H	10878	16980	OMIM:603075	Macular degeneration, age-related, 1
HP:0011510	HP:0030499	Macular drusen	1	CFI CL E G H	3426	5394	ORPHA:75376	Familial drusen	HP:0040280 - Obligate	57
HP:0011510	HP:0030499	Macular drusen	1	EFEMP1 CL E G H	2202	3218	ORPHA:75376	Familial drusen	HP:0040280 - Obligate	54
HP:0011510	HP:0012426	Optic disc drusen	1	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I		124
HP:0011510	HP:0030499	Macular drusen	1	HMCN1 CL E G H	83872	19194	OMIM:603075	Macular degeneration, age-related, 1		262
HP:0011510	HP:0012426	Optic disc drusen	1	IFT172 CL E G H	26160	30391	OMIM:616394	Retinitis pigmentosa 71		48
HP:0011510	HP:0012426	Optic disc drusen	1	LCA5 CL E G H	167691	31923	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent	70
HP:0011510	HP:0012426	Optic disc drusen	1	LRAT CL E G H	9227	6685	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent	62
HP:0011510	HP:0012426	Optic disc drusen	1	MFRP CL E G H	83552	18121	OMIM:611040	Microphthalmia, isolated 5	.	26
HP:0011510	HP:0012426	Optic disc drusen	1	PRPF8 CL E G H	10594	17340	OMIM:600059	Retinitis pigmentosa 13		94
HP:0011510	HP:0012426	Optic disc drusen	1	RPE65 CL E G H	6121	10294	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent	129
HP:0011510	HP:0012426	Optic disc drusen	1	SPATA7 CL E G H	55812	20423	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent	48
HP:0011510	HP:0012426	Optic disc drusen	1	TMEM98 CL E G H	26022	24529	OMIM:615972	Nanophthalmos 4	HP:0040283 - Occasional	3
HP:0011510	HP:0012426	Optic disc drusen	1	XYLT1 CL E G H	64131	15516	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		14
HP:0011510	HP:0012426	Optic disc drusen	1	XYLT2 CL E G H	64132	15517	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		5

Genes (28) :ABCC6 ALMS1 APOE C1QTNF5 CFH CFHR1 CFHR3 CFI CTNNA1 EFEMP1 ESPN FBLN5 GUCA1A GUCY2D HMCN1 IFT172 IMPG1 LCA5 LOC111365204 LRAT MFRP PRPF8 PRPH2 RPE65 SPATA7 TMEM98 XYLT1 XYLT2

Diseases (20) :OMIM:264800 ORPHA:64 OMIM:603075 ORPHA:67042 OMIM:126700 ORPHA:75376 OMIM:615439 OMIM:608970 OMIM:618632 OMIM:608895 ORPHA:75377 OMIM:204000 OMIM:616394 OMIM:616151 ORPHA:364055 OMIM:136550 OMIM:611040 OMIM:600059 OMIM:608161 OMIM:615972

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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