Human Phenotype Ontology 
Grandparent Node:
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Epidermal thickening (HP:0011368)help
Parent Node:
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Hyperkeratosis (HP:0000962)help
..Starting node
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Follicular hyperkeratosis (HP:0007502)help
Term ID: 7502
Name: Follicular hyperkeratosis
Synonym: Hyperkeratosis follicularis
Definition: A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum.
Comments:
Reference: HP:0007502
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCircumungual hyperkeratosis (HP:0008399) help
..expandCobblestone-like hyperkeratosis (HP:0031288) help
..expandEpidermal hyperkeratosis (HP:0007543) help
..expandGeneralized hyperkeratosis (HP:0005595) help
..expandGingival hyperkeratosis (HP:0000222) help
..expandHyperkeratosis lenticularis perstans (HP:0007570) help
..expandHyperkeratosis over edematous areas (HP:0007448) help
..expandHyperkeratosis with erythema (HP:0007390) help
..expandHyperkeratotic papule (HP:0045059) help
..expandHyperparakeratosis (HP:0040009) help
..expandLinear arrays of macular hyperkeratoses in flexural areas (HP:0007490) help
..expandobsolete Hyperkeratosis pilaris (HP:0040180) help
..expandOrthokeratotic hyperkeratosis (HP:0025080) help
..expandPalmar hyperkeratosis (HP:0010765) help
..expandPalmoplantar keratoderma (HP:0000982) help
..expandPerifollicular hyperkeratosis (HP:0007468) help
..expandPlantar hyperkeratosis (HP:0007556) help
..expandStreaks of hyperkeratosis along each finger onto the palm (HP:0007501) help
..expandSubungual hyperkeratosis (HP:0008392) help
..expandSubungual hyperkeratotic fragments (HP:0008410) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0007502HP:0007502Follicular hyperkeratosis0COL6A1 CL E G H1291254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM113422211120220
HP:0007502HP:0007502Follicular hyperkeratosis0COL6A1 CL E G H1291254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM112192211120220
HP:0007502HP:0007502Follicular hyperkeratosis0COL6A2 CL E G H1292254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM115122212120240
HP:0007502HP:0007502Follicular hyperkeratosis0COL6A2 CL E G H1292254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM113702212120240
HP:0007502HP:0007502Follicular hyperkeratosis0COL6A3 CL E G H1293254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM122332213120250
HP:0007502HP:0007502Follicular hyperkeratosis0COL6A3 CL E G H1293254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM119712213120250
HP:0007502HP:0007502Follicular hyperkeratosis0DSG4 CL E G H147409573Agyria-pachygyria type 1ORPHA118021307607892
HP:0007502HP:0007502Follicular hyperkeratosis0DSG4 CL E G H147409573Agyria-pachygyria type 1ORPHA117921307607892
HP:0007502HP:0007502Follicular hyperkeratosis0DSG4 CL E G H147409607903Hypotrichosis 6607903C1842839OMIM118021307607892
HP:0007502HP:0007502Follicular hyperkeratosis0DSG4 CL E G H147409607903Hypotrichosis 6607903C1842839OMIM117921307607892
HP:0007502HP:0007502Follicular hyperkeratosis0FKBP14 CL E G H55033300179ORPHA114418625614505
HP:0007502HP:0007502Follicular hyperkeratosis0FKBP14 CL E G H55033300179ORPHA111818625614505
HP:0007502HP:0007502Follicular hyperkeratosis0FKBP14 CL E G H55033614557Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss614557C3281160OMIM114418625614505
HP:0007502HP:0007502Follicular hyperkeratosis0FKBP14 CL E G H55033614557Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss614557C3281160OMIM111818625614505
HP:0007502HP:0007502Follicular hyperkeratosis0KRT16 CL E G H3868167200Pachyonychia congenita 1167200C1706595OMIM1686423148067
HP:0007502HP:0007502Follicular hyperkeratosis0KRT16 CL E G H3868167200Pachyonychia congenita 1167200C1706595OMIM1656423148067
HP:0007502HP:0007502Follicular hyperkeratosis0KRT81 CL E G H3887573Agyria-pachygyria type 1ORPHA1406458602153
HP:0007502HP:0007502Follicular hyperkeratosis0KRT83 CL E G H3889573Agyria-pachygyria type 1ORPHA11246460602765
HP:0007502HP:0007502Follicular hyperkeratosis0KRT83 CL E G H3889573Agyria-pachygyria type 1ORPHA11236460602765
HP:0007502HP:0007502Follicular hyperkeratosis0KRT86 CL E G H3892573Agyria-pachygyria type 1ORPHA11076463601928
HP:0007502HP:0007502Follicular hyperkeratosis0MBTPS2 CL E G H51360308205IFAP syndrome with or without BRESHECK syndrome308205C1839988OMIM124215455300294
HP:0007502HP:0007502Follicular hyperkeratosis0MBTPS2 CL E G H51360308205IFAP syndrome with or without BRESHECK syndrome308205C1839988OMIM123115455300294
HP:0007502HP:0007502Follicular hyperkeratosis0MBTPS2 CL E G H51360308800Keratosis pilaris decalvans308800C0343057OMIM124215455300294
HP:0007502HP:0007502Follicular hyperkeratosis0MBTPS2 CL E G H51360308800Keratosis pilaris decalvans308800C0343057OMIM123115455300294
HP:0007502HP:0007502Follicular hyperkeratosis0NLRP1 CL E G H22861615225Palmoplantar carcinoma, multiple self-healing615225C3808876OMIM138714374606636
HP:0007502HP:0007502Follicular hyperkeratosis0NLRP1 CL E G H22861615225Palmoplantar carcinoma, multiple self-healing615225C3808876OMIM120214374606636
HP:0007502HP:0007502Follicular hyperkeratosis0POFUT1 CL E G H23509615327Dowling-Degos disease 2615327C3809147OMIM15814988607491
HP:0007502HP:0007502Follicular hyperkeratosis0POFUT1 CL E G H23509615327Dowling-Degos disease 2615327C3809147OMIM15214988607491
HP:0007502HP:0007502Follicular hyperkeratosis0PSENEN CL E G H55851613736Acne inversa, familial, 2613736C3151037OMIM13230100607632
HP:0007502HP:0007502Follicular hyperkeratosis0PSENEN CL E G H55851613736Acne inversa, familial, 2613736C3151037OMIM12330100607632
HP:0007502HP:0007502Follicular hyperkeratosis0TRIP4 CL E G H9325486815ORPHA113112310604501
HP:0007502HP:0007502Follicular hyperkeratosis0TRIP4 CL E G H9325486815ORPHA112112310604501
HP:0007502HP:0007502Follicular hyperkeratosis0TRIP4 CL E G H9325617066Muscular dystrophy, congenital, davignon-chauveau type617066C4310736OMIM113112310604501
HP:0007502HP:0007502Follicular hyperkeratosis0TRIP4 CL E G H9325617066Muscular dystrophy, congenital, davignon-chauveau type617066C4310736OMIM112112310604501
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007502HP:0007502Follicular hyperkeratosis0COL12A1 CL E G H1303610Alopecia macular degeneration growth retardationORPHA016782188120320
HP:0007502HP:0007502Follicular hyperkeratosis0COL12A1 CL E G H1303610Alopecia macular degeneration growth retardationORPHA013672188120320
HP:0007502HP:0007502Follicular hyperkeratosis0COL6A1 CL E G H1291610Alopecia macular degeneration growth retardationORPHA013422211120220
HP:0007502HP:0007502Follicular hyperkeratosis0COL6A1 CL E G H1291610Alopecia macular degeneration growth retardationORPHA012192211120220
HP:0007502HP:0007502Follicular hyperkeratosis0COL6A2 CL E G H1292610Alopecia macular degeneration growth retardationORPHA015122212120240
HP:0007502HP:0007502Follicular hyperkeratosis0COL6A2 CL E G H1292610Alopecia macular degeneration growth retardationORPHA013702212120240
HP:0007502HP:0007502Follicular hyperkeratosis0COL6A3 CL E G H1293610Alopecia macular degeneration growth retardationORPHA022332213120250
HP:0007502HP:0007502Follicular hyperkeratosis0COL6A3 CL E G H1293610Alopecia macular degeneration growth retardationORPHA019712213120250


Genes (15) :COL12A1 COL6A1 COL6A2 COL6A3 DSG4 FKBP14 KRT16 KRT81 KRT83 KRT86 MBTPS2 NLRP1 POFUT1 PSENEN TRIP4

Diseases (14) :610 254090 573 607903 300179 614557 167200 308205 308800 615225 615327 613736 486815 617066
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.