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:
Epidermal nevus (HP:0010816)

Parent Node:
Nevus sebaceous (HP:0010815)

..Starting node
..Linear nevus sebaceous (HP:0010817)

Term ID:

10817

Name:

Linear nevus sebaceous

Synonym:

Definition:

A type of nevus sebaceous with a linear form, raised borders and yellowish color.

Comments:

Reference:

HP:0010817

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0010817	HP:0010817	Linear nevus sebaceous	0	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica		113
HP:0010817	HP:0010817	Linear nevus sebaceous	0	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	113
HP:0010817	HP:0010817	Linear nevus sebaceous	0	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	196
HP:0010817	HP:0010817	Linear nevus sebaceous	0	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	102

Genes (3) :HRAS KRAS NRAS

Diseases (2) :ORPHA:2874 OMIM:163200

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