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:
Hyperpigmentation of the skin (HP:0000953)

Parent Node:
Irregular hyperpigmentation (HP:0007400)

..Starting node
..Progressive reticulate hyperpigmentation (HP:0007456)

Term ID:

7456

Name:

Progressive reticulate hyperpigmentation

Synonym:

Definition:

Comments:

Reference:

HP:0007456

Genes and Diseases:

Child Nodes:

Sister Nodes:

Forehead hyperpigmentation (HP:0005336)

Hypermelanotic macule (HP:0001034)

Hyperpigmentation of eyelids (HP:0007406)

Hyperpigmented streaks (HP:0007572)

Increased groin pigmentation with raindrop depigmentation (HP:0007450)

Irregular hyperpigmentation of back (HP:0007521)

Linear hyperpigmentation (HP:0007546)

Lip hyperpigmentation (HP:0100816)

Reticular hyperpigmentation (HP:0007588)

Spotty hyperpigmentation (HP:0005585)

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:0007456	HP:0007456	Progressive reticulate hyperpigmentation	0	KRT5 CL E G H	3852	6442	ORPHA:79145	Dowling-Degos disease	HP:0040281 - Very frequent	173
HP:0007456	HP:0007456	Progressive reticulate hyperpigmentation	0	KRT5 CL E G H	3852	6442	OMIM:179850	Dowling-Degos disease	.	173
HP:0007456	HP:0007456	Progressive reticulate hyperpigmentation	0	POFUT1 CL E G H	23509	14988	ORPHA:79145	Dowling-Degos disease	HP:0040281 - Very frequent	2
HP:0007456	HP:0007456	Progressive reticulate hyperpigmentation	0	POGLUT1 CL E G H	56983	22954	ORPHA:79145	Dowling-Degos disease	HP:0040281 - Very frequent	6
HP:0007456	HP:0007456	Progressive reticulate hyperpigmentation	0	PSENEN CL E G H	55851	30100	ORPHA:79145	Dowling-Degos disease	HP:0040281 - Very frequent	2

Genes (4) :KRT5 POFUT1 POGLUT1 PSENEN

Diseases (2) :ORPHA:79145 OMIM:179850

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