Human Phenotype Ontology 
Grandparent Node:
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Epidermal thickening (HP:0011368)help
Parent Node:
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Abnormality of the subungual region (HP:0009723)help
Parent Node:
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Hyperkeratosis (HP:0000962)help
..Starting node
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Subungual hyperkeratosis (HP:0008392)help
Term ID: 8392
Name: Subungual hyperkeratosis
Synonym: Thickened, discolored skin under nail; Thickened, discoloured skin under nail
Definition: A thickening of the stratum corneum in the region beneath the nails.
Comments:
Reference: HP:0008392
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCircumungual hyperkeratosis (HP:0008399) help
..expandCobblestone-like hyperkeratosis (HP:0031288) help
..expandEpidermal hyperkeratosis (HP:0007543) help
..expandFollicular hyperkeratosis (HP:0007502) 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 hyperkeratotic fragments (HP:0008410) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0008392HP:0008392Subungual hyperkeratosis0CARD14 CL E G H790922897Hypogonadism, isolated, hypogonadotropicORPHA164616446607211
HP:0008392HP:0008392Subungual hyperkeratosis0CARD14 CL E G H790922897Hypogonadism, isolated, hypogonadotropicORPHA152716446607211
HP:0008392HP:0008392Subungual hyperkeratosis0CARD14 CL E G H79092173200Pityriasis rubra pilaris173200C0032027OMIM152716446607211
HP:0008392HP:0008392Subungual hyperkeratosis0CARD14 CL E G H79092173200Pityriasis rubra pilaris173200C0032027OMIM164616446607211
HP:0008392HP:0008392Subungual hyperkeratosis0KRT17 CL E G H3872167210Pachyonychia congenita 2167210C1721007OMIM1596427148069
HP:0008392HP:0008392Subungual hyperkeratosis0KRT17 CL E G H3872167210Pachyonychia congenita 2167210C1721007OMIM1546427148069
HP:0008392HP:0008392Subungual hyperkeratosis0MBTPS2 CL E G H51360300918Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked300918C3806745OMIM124215455300294
HP:0008392HP:0008392Subungual hyperkeratosis0MBTPS2 CL E G H51360300918Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked300918C3806745OMIM123115455300294
HP:0008392HP:0008392Subungual hyperkeratosis0SLURP1 CL E G H5715287503ORPHA18018746606119
HP:0008392HP:0008392Subungual hyperkeratosis0SLURP1 CL E G H5715287503ORPHA18118746606119
HP:0008392HP:0008392Subungual hyperkeratosis0TRPV3 CL E G H162514614594Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques614594C2609071OMIM132918084607066
HP:0008392HP:0008392Subungual hyperkeratosis0TRPV3 CL E G H162514614594Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques614594C2609071OMIM133718084607066
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (5) :CARD14 KRT17 MBTPS2 SLURP1 TRPV3

Diseases (6) :2897 173200 167210 300918 87503 614594
 

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