Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 macular morphology (HP:0001103)

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

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

..Starting node
..Vitelliform-like macular lesions (HP:0007677)

Term ID:

7677

Name:

Vitelliform-like macular lesions

Synonym:

Vitelliform macular dystrophy; Vitelliform macular lesions

Definition:

Vitelliform maculopathy is a sharply demarcated lesion caused by the accumulation of material, often lipofuscin in the subretinal space underlying the macula.

Comments:

Reference:

HP:0007677

Genes and Diseases:

Child Nodes:

Sister Nodes:

Macular cotton wool spot (HP:0030497)

Macular crystals (HP:0030501)

Macular drusen (HP:0030499)

Macular flecks (HP:0011507)

Placoid macular lesion (HP:0025110)

Small yellow foveal lesion with surrounding gray zone (HP:0031420)

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:0007677	HP:0007677	Vitelliform-like macular lesions	0	BEST1 CL E G H	7439	12703	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy	HP:0040281 - Very frequent	182
HP:0007677	HP:0007677	Vitelliform-like macular lesions	0	IMPG1 CL E G H	3617	6055	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy	HP:0040281 - Very frequent	4
HP:0007677	HP:0007677	Vitelliform-like macular lesions	0	IMPG1 CL E G H	3617	6055	OMIM:616151	Macular dystrophy, vitelliform, 4	.	4
HP:0007677	HP:0007677	Vitelliform-like macular lesions	0	IMPG2 CL E G H	50939	18362	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy	HP:0040281 - Very frequent	120
HP:0007677	HP:0007677	Vitelliform-like macular lesions	0	IMPG2 CL E G H	50939	18362	OMIM:616152	Macular dystrophy, vitelliform, 5	.	120
HP:0007677	HP:0007677	Vitelliform-like macular lesions	0	PRPH2 CL E G H	5961	9942	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy	HP:0040281 - Very frequent	159
HP:0007677	HP:0007677	Vitelliform-like macular lesions	0	PRPH2 CL E G H	5961	9942	OMIM:608161	Macular dystrophy, vitelliform, 3	.	159

Genes (4) :BEST1 IMPG1 IMPG2 PRPH2

Diseases (4) :ORPHA:99000 OMIM:616151 OMIM:616152 OMIM:608161

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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