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:
Abnormality of skin morphology (HP:0011121)

Parent Node:
Abnormality of skin pigmentation (HP:0001000)

..Starting node
..Profuse pigmented skin lesions (HP:0005587)

Term ID:

5587

Name:

Profuse pigmented skin lesions

Synonym:

Definition:

Comments:

Reference:

HP:0005587

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of dermal melanosomes (HP:0011125)

Blotching pigmentation of the skin (HP:0007610)

Depigmentation/hyperpigmentation of skin (HP:0007483)

Fine, reticulate skin pigmentation (HP:0007617)

Freckling (HP:0001480)

Hyperpigmentation of the skin (HP:0000953)

Hypopigmentation of the skin (HP:0001010)

Melanocytic nevus (HP:0000995)

Mottled pigmentation (HP:0001070)

Numerous pigmented freckles (HP:0007587)

Perioral hyperpigmentation (HP:0010802)

Periorbital hyperpigmentation (HP:0001106)

Pigmentation anomalies of sun-exposed skin (HP:0007623)

Reticulated skin pigmentation (HP:0007427)

Symmetric great toe depigmentation (HP:0200015)

Vitiligo (HP:0001045)

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:0005587	HP:0005587	Profuse pigmented skin lesions	0	KIT CL E G H	3815	6342	ORPHA:280785	Bullous diffuse cutaneous mastocytosis	HP:0040281 - Very frequent	327
HP:0005587	HP:0005587	Profuse pigmented skin lesions	0	PRKAR1A CL E G H	5573	9388	OMIM:160980	Carney complex, type 1	.	134

Genes (2) :KIT PRKAR1A

Diseases (2) :ORPHA:280785 OMIM:160980

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