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 hyperpigmentation (HP:0008001)

Term ID:

8001

Name:

Foveal hyperpigmentation

Synonym:

Definition:

Increased amount of pigmentation in the fovea centralis.

Comments:

Reference:

HP:0008001

Genes and Diseases:

Child Nodes:

Sister Nodes:

Foveal hypopigmentation (HP:0012643)

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:0008001	HP:0008001	Foveal hyperpigmentation	0	CTNNA1 CL E G H	1495	2509	OMIM:608970	Macular dystrophy, patterned, 2	.	141
HP:0008001	HP:0008001	Foveal hyperpigmentation	0	IMPG1 CL E G H	3617	6055	OMIM:153870	Macular dystrophy, concentric annular	.	4
HP:0008001	HP:0008001	Foveal hyperpigmentation	0	RAB28 CL E G H	9364	9768	OMIM:615374	Cone-Rod dystrophy 18	.	6
HP:0008001	HP:0008001	Foveal hyperpigmentation	0	SLC38A8 CL E G H	146167	32434	OMIM:609218	Foveal hypoplasia 2	.	13

Genes (4) :CTNNA1 IMPG1 RAB28 SLC38A8

Diseases (4) :OMIM:608970 OMIM:153870 OMIM:615374 OMIM:609218

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