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)

Grandparent Node:
Hypopigmentation of the skin (HP:0001010)

Parent Node:
Mixed hypo- and hyperpigmentation of the skin (HP:0009123)

..Starting node
..Patchy hypo- and hyperpigmentation (HP:0007509)

Term ID:

7509

Name:

Patchy hypo- and hyperpigmentation

Synonym:

Patchy hypo- and hyper-pigmentation

Definition:

Comments:

Reference:

HP:0007509

Genes and Diseases:

Child Nodes:

Sister Nodes:

Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines (HP:0007402)

Axillary and groin hyperpigmentation and hypopigmentation (HP:0007471)

Hyperpigmented/hypopigmented macules (HP:0007441)

Increased groin pigmentation with raindrop depigmentation (HP:0007450)

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:0007509	HP:0007509	Patchy hypo- and hyperpigmentation	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent	645
HP:0007509	HP:0007509	Patchy hypo- and hyperpigmentation	0	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040283 - Occasional	19
HP:0007509	HP:0007509	Patchy hypo- and hyperpigmentation	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040283 - Occasional	7

Genes (3) :LMNA SMS UBE2A

Diseases (3) :ORPHA:79474 ORPHA:3063 ORPHA:163956

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