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 macular morphology (HP:0001103)

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

..Starting node
..Macular hypopigmentation (HP:0007988)

Term ID:

7988

Name:

Macular hypopigmentation

Synonym:

Definition:

Decreased amount of pigmentation in the macula lutea.

Comments:

Reference:

HP:0007988

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of foveal pigmentation (HP:0030493)

Beaten bronze macular sheen (HP:0025147)

Bull's eye maculopathy (HP:0011504)

Granular macular appearance (HP:0007793)

Macular hyperpigmentation (HP:0011509)

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:0007988	HP:0007988	Macular hypopigmentation	0	ADAR CL E G H	103	225	ORPHA:41	Dyschromatosis symmetrica hereditaria	HP:0040281 - Very frequent	116
HP:0007988	HP:0007988	Macular hypopigmentation	0	IFT74 CL E G H	80173	21424	OMIM:617119	BARDET-BIEDL SYNDROME 20; BBS20		3
HP:0007988	HP:0007988	Macular hypopigmentation	0	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040282 - Frequent	124
HP:0007988	HP:0007988	Macular hypopigmentation	0	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9		15
HP:0007988	HP:0007988	Macular hypopigmentation	0	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040282 - Frequent	121

Genes (5) :ADAR IFT74 MC1R NMNAT1 OCA2

Diseases (4) :ORPHA:41 OMIM:617119 ORPHA:79432 OMIM:608553

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