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:
Localized skin lesion (HP:0011355)

Parent Node:
Nevus (HP:0003764)

..Starting node
..Nevus spilus (HP:0025510)

Term ID:

25510

Name:

Nevus spilus

Synonym:

Speckled lentiginous Nevus

Definition:

A tan, regularly bordered patch with darker macules within the lesion.

Comments:

Reference:

HP:0025510

Genes and Diseases:

Child Nodes:

Sister Nodes:

Atypical nevi in non-sun exposed areas (HP:0001074)

Atypical nevus (HP:0001062)

Blue nevus (HP:0100814)

Congenital panfollicular nevus (HP:0025471)

Connective tissue nevi (HP:0100898)

Epidermal nevus (HP:0010816)

Melanocytic nevus (HP:0000995)

Nevus flammeus (HP:0001052)

Nevus of Ota (HP:0009920)

Nevus sebaceus (HP:0025511)

Numerous nevi (HP:0001054)

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:0025510	HP:0025510	Nevus spilus	0	HRAS CL E G H	3265	5173	OMIM:137550	Melanocytic nevus syndrome, congenital	.	113
HP:0025510	HP:0025510	Nevus spilus	0	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica		113
HP:0025510	HP:0025510	Nevus spilus	0	NRAS CL E G H	4893	7989	OMIM:137550	Melanocytic nevus syndrome, congenital	.	102

Genes (2) :HRAS NRAS

Diseases (2) :OMIM:137550 ORPHA:2874

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