Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of skin morphology (HP:0011121)help
Parent Node:
expandLocalized skin lesion (HP:0011355)help
..Starting node
..expandAbnormal perifollicular morphology (HP:0031285)help
Term ID: 31285
Name: Abnormal perifollicular morphology
Synonym:
Definition: Any structural anomaly in the areas surrounding the hair follicles.
Comments:
Reference: HP:0031285
Genes and Diseases:
 
       Child Nodes:
........expandPerifollicular hyperkeratosis (HP:0007468) help
........expandPerifollicular fibrosis (HP:0030054) help
........expandPerifollicular erythema (HP:0031286) help

 Sister Nodes: 
..expandAnnular cutaneous lesion (HP:0025528) help
..expandAplasia/Hypoplasia of the skin (HP:0008065) help
..expandAtypical scarring of skin (HP:0000987) help
..expandCafe-au-lait spot (HP:0000957) help
..expandCapillary malformation (HP:0025104) help
..expandComedo (HP:0025249) help
..expandCutaneous cyst (HP:0025245) help
..expandHypopigmented skin patches (HP:0001053) help
..expandLichenoid skin lesion (HP:0031452) help
..expandMacule (HP:0012733) help
..expandMilia (HP:0001056) help
..expandMolluscoid pseudotumors (HP:0000993) help
..expandNevus (HP:0003764) help
..expandPapule (HP:0200034) help
..expandSerpiginous cutaneous lesion (HP:0025527) help
..expandSkin dimple (HP:0010781) help
..expandSkin erosion (HP:0200041) help
..expandSkin fissure (HP:0031057) help
..expandSkin nodule (HP:0200036) help
..expandSkin pit (HP:0100276) help
..expandSkin plaque (HP:0200035) help
..expandSkin tags (HP:0010609) help
..expandSkin ulcer (HP:0200042) help
..expandSkin vesicle (HP:0200037) help
..expandXanthomatosis (HP:0000991) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031285HP:0031285Abnormal perifollicular morphology0HLA-DRA CL E G H31224947ORPHA:505Graham Little-Piccardi-Lassueur syndrome
HP:0031285HP:0031285Abnormal perifollicular morphology0KRT81 CL E G H38876458OMIM:158000MONILETHRIX3
HP:0031285HP:0031285Abnormal perifollicular morphology0KRT83 CL E G H38896460OMIM:158000MONILETHRIX65
HP:0031285HP:0031285Abnormal perifollicular morphology0KRT86 CL E G H38926463OMIM:158000MONILETHRIX10
HP:0031285HP:0031285Abnormal perifollicular morphology0LRP1 CL E G H40356692OMIM:604093Keratosis pilaris atrophicans4
HP:0031285HP:0031285Abnormal perifollicular morphology0MBTPS2 CL E G H5136015455OMIM:308800Keratosis follicularis spinulosa decalvans, X-linked22
HP:0031285HP:0031286Perifollicular erythema1 CL E G H
HP:0031285HP:0007468Perifollicular hyperkeratosis1HLA-DRA CL E G H31224947ORPHA:505Graham Little-Piccardi-Lassueur syndromeHP:0040281 - Very frequent
HP:0031285HP:0007468Perifollicular hyperkeratosis1KRT81 CL E G H38876458OMIM:158000MONILETHRIX.3
HP:0031285HP:0007468Perifollicular hyperkeratosis1KRT83 CL E G H38896460OMIM:158000MONILETHRIX.65
HP:0031285HP:0007468Perifollicular hyperkeratosis1KRT86 CL E G H38926463OMIM:158000MONILETHRIX.10
HP:0031285HP:0030054Perifollicular fibrosis1MBTPS2 CL E G H5136015455OMIM:308800Keratosis follicularis spinulosa decalvans, X-linked.22


Genes (6) :HLA-DRA KRT81 KRT83 KRT86 LRP1 MBTPS2

Diseases (4) :ORPHA:505 OMIM:158000 OMIM:604093 OMIM:308800
 

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