Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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:
Inflammatory abnormality of the skin (HP:0011123)

Parent Node:
Acne (HP:0001061)

..Starting node
..Comedonal acne (HP:0040137)

Term ID:

40137

Name:

Comedonal acne

Synonym:

Comedogenic acne

Definition:

A type of acne in which open and closed comedones comprise the majority of the lesions, with substantially fewer papules and pustules.

Comments:

Reference:

HP:0040137

Genes and Diseases:

Child Nodes:

Sister Nodes:

Acne inversa (HP:0040154)

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:0040137	HP:0040137	Comedonal acne	0	RBP4 CL E G H	5950	9922	OMIM:615147	Retinal dystrophy, iris coloboma, and comedogenic acne syndrome	.	8

Genes (1) :RBP4

Diseases (1) :OMIM:615147

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