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

Parent Node:
Abnormal optic disc morphology (HP:0012795)

Parent Node:
Drusen (HP:0011510)

..Starting node
..Optic disc drusen (HP:0012426)

Term ID:

12426

Name:

Optic disc drusen

Synonym:

Optic nerve head drusen

Definition:

Optic disc drusen are acellular, calcified deposits within the optic nerve head. Optic disc drusen are congenital and developmental anomalies of the optic nerve head, representing hyaline-containing bodies that, over time, appear as elevated, lumpy irregularities on the anterior portion of the optic nerve.

Comments:

Reference:

HP:0012426

Genes and Diseases:

Child Nodes:

Sister Nodes:

Macular drusen (HP:0030499)

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:0012426	HP:0012426	Optic disc drusen	0	ABCC6 CL E G H	368	57	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		415
HP:0012426	HP:0012426	Optic disc drusen	0	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I		124
HP:0012426	HP:0012426	Optic disc drusen	0	IFT172 CL E G H	26160	30391	OMIM:616394	Retinitis pigmentosa 71		48
HP:0012426	HP:0012426	Optic disc drusen	0	LCA5 CL E G H	167691	31923	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent	70
HP:0012426	HP:0012426	Optic disc drusen	0	LRAT CL E G H	9227	6685	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent	62
HP:0012426	HP:0012426	Optic disc drusen	0	MFRP CL E G H	83552	18121	OMIM:611040	Microphthalmia, isolated 5	.	26
HP:0012426	HP:0012426	Optic disc drusen	0	PRPF8 CL E G H	10594	17340	OMIM:600059	Retinitis pigmentosa 13		94
HP:0012426	HP:0012426	Optic disc drusen	0	RPE65 CL E G H	6121	10294	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent	129
HP:0012426	HP:0012426	Optic disc drusen	0	SPATA7 CL E G H	55812	20423	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent	48
HP:0012426	HP:0012426	Optic disc drusen	0	TMEM98 CL E G H	26022	24529	OMIM:615972	Nanophthalmos 4	HP:0040283 - Occasional	3
HP:0012426	HP:0012426	Optic disc drusen	0	XYLT1 CL E G H	64131	15516	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		14
HP:0012426	HP:0012426	Optic disc drusen	0	XYLT2 CL E G H	64132	15517	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		5

Genes (12) :ABCC6 GUCY2D IFT172 LCA5 LRAT MFRP PRPF8 RPE65 SPATA7 TMEM98 XYLT1 XYLT2

Diseases (7) :OMIM:264800 OMIM:204000 OMIM:616394 ORPHA:364055 OMIM:611040 OMIM:600059 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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