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 hyperpigmentation (HP:0011509)

Term ID:

11509

Name:

Macular hyperpigmentation

Synonym:

Definition:

Increased amount of pigmentation in the macula lutea.

Comments:

Reference:

HP:0011509

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 hypopigmentation (HP:0007988)

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:0011509	HP:0011509	Macular hyperpigmentation	0	ADAR CL E G H	103	225	ORPHA:41	Dyschromatosis symmetrica hereditaria	HP:0040281 - Very frequent	116
HP:0011509	HP:0011509	Macular hyperpigmentation	0	CFH CL E G H	3075	4883	ORPHA:75376	Familial drusen	HP:0040282 - Frequent	86
HP:0011509	HP:0011509	Macular hyperpigmentation	0	CFI CL E G H	3426	5394	ORPHA:75376	Familial drusen	HP:0040282 - Frequent	57
HP:0011509	HP:0011509	Macular hyperpigmentation	0	CRX CL E G H	1406	2383	OMIM:120970	Cone-Rod dystrophy 2		158
HP:0011509	HP:0011509	Macular hyperpigmentation	0	EFEMP1 CL E G H	2202	3218	ORPHA:75376	Familial drusen	HP:0040282 - Frequent	54
HP:0011509	HP:0011509	Macular hyperpigmentation	0	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome	HP:0040283 - Occasional	39

Genes (6) :ADAR CFH CFI CRX EFEMP1 PAX2

Diseases (4) :ORPHA:41 ORPHA:75376 OMIM:120970 OMIM:120330

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