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 foveal morphology (HP:0000493)

Grandparent Node:
Abnormality of macular pigmentation (HP:0008002)

Parent Node:
Abnormality of foveal pigmentation (HP:0030493)

..Starting node
..Foveal hypopigmentation (HP:0012643)

Term ID:

12643

Name:

Foveal hypopigmentation

Synonym:

Definition:

Decreased amount of pigmentation in the fovea centralis.

Comments:

Reference:

HP:0012643

Genes and Diseases:

Child Nodes:

........

Foveal depigmentation (HP:0500088)

Sister Nodes:

Foveal hyperpigmentation (HP:0008001)

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:0012643	HP:0012643	Foveal hypopigmentation	0	APOE CL E G H	348	613	OMIM:603075	Macular degeneration, age-related, 1	.	39
HP:0012643	HP:0012643	Foveal hypopigmentation	0	CFHR1 CL E G H	3078	4888	OMIM:603075	Macular degeneration, age-related, 1	.
HP:0012643	HP:0012643	Foveal hypopigmentation	0	CFHR3 CL E G H	10878	16980	OMIM:603075	Macular degeneration, age-related, 1	.
HP:0012643	HP:0012643	Foveal hypopigmentation	0	HMCN1 CL E G H	83872	19194	OMIM:603075	Macular degeneration, age-related, 1	.	262
HP:0012643	HP:0500088	Foveal depigmentation	1	CL E G H

Genes (4) :APOE CFHR1 CFHR3 HMCN1

Diseases (1) :OMIM:603075

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