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:
Abnormal perifollicular morphology (HP:0031285)

..Starting node
..Perifollicular fibrosis (HP:0030054)

Term ID:

30054

Name:

Perifollicular fibrosis

Synonym:

Definition:

Presence of excess fibrous connective tissue surrounding hair follicules.

Comments:

Reference:

HP:0030054

Genes and Diseases:

Child Nodes:

Sister Nodes:

Perifollicular erythema (HP:0031286)

Perifollicular hyperkeratosis (HP:0007468)

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:0030054	HP:0030054	Perifollicular fibrosis	0	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked	.	22

Genes (1) :MBTPS2

Diseases (1) :OMIM:308800

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