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

..Starting node
..Nevus comedonicus (HP:0020154)

Term ID:

20154

Name:

Nevus comedonicus

Synonym:

Definition:

A type of epidermal nevus characterized by closely arranged, dilated follicular openings with keratinous plugs resembling classical comedones.

Comments:

Reference:

HP:0020154

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0020154	HP:0020154	Nevus comedonicus	0	NEK9 CL E G H	91754	18591	OMIM:617025	NEVUS COMEDONICUS; NC	9

Genes (1) :NEK9

Diseases (1) :OMIM:617025

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