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:
Macule (HP:0012733)

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

..Starting node
..Hyperpigmented/hypopigmented macules (HP:0007441)

Term ID:

7441

Name:

Hyperpigmented/hypopigmented macules

Synonym:

Definition:

Comments:

Reference:

HP:0007441

Genes and Diseases:

Child Nodes:

........

Discrete 2 to 5-mm hyper- and hypopigmented macules (HP:0007494)

Sister Nodes:

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

Axillary and groin hyperpigmentation and hypopigmentation (HP:0007471)

Increased groin pigmentation with raindrop depigmentation (HP:0007450)

Patchy hypo- and hyperpigmentation (HP:0007509)

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:0007441	HP:0007441	Hyperpigmented/hypopigmented macules	0	ADAR CL E G H	103	225	OMIM:127400	Dyschromatosis symmetrica hereditaria 1	.	116
HP:0007441	HP:0007441	Hyperpigmented/hypopigmented macules	0	KRT5 CL E G H	3852	6442	OMIM:131960	Epidermolysis bullosa simplex with mottled pigmentation		173
HP:0007441	HP:0007441	Hyperpigmented/hypopigmented macules	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0007441	HP:0007441	Hyperpigmented/hypopigmented macules	0	SASH1 CL E G H	23328	19182	OMIM:127500	Dyschromatosis universalis hereditaria	.	1
HP:0007441	HP:0007494	Discrete 2 to 5-mm hyper- and hypopigmented macules	1	KRT5 CL E G H	3852	6442	OMIM:131960	Epidermolysis bullosa simplex with mottled pigmentation	.	173

Genes (4) :ADAR KRT5 PIGN SASH1

Diseases (4) :OMIM:127400 OMIM:131960 ORPHA:280633 OMIM:127500

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