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
..Linear hyperpigmentation (HP:0007546)

Term ID:

7546

Name:

Linear hyperpigmentation

Synonym:

Definition:

Comments:

Reference:

HP:0007546

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)

Lip hyperpigmentation (HP:0100816)

Progressive reticulate hyperpigmentation (HP:0007456)

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:0007546	HP:0007546	Linear hyperpigmentation	0	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis	.	172
HP:0007546	HP:0007546	Linear hyperpigmentation	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20

Genes (2) :FGFR1 PORCN

Diseases (2) :OMIM:613001 OMIM:305600

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