| 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: |
.. Circumungual hyperkeratosis (HP:0008399) 
|
..Cobblestone-like hyperkeratosis (HP:0031288)
|
..Epidermal hyperkeratosis (HP:0007543)
|
..Follicular hyperkeratosis (HP:0007502)
|
..Generalized hyperkeratosis (HP:0005595)
|
..Gingival hyperkeratosis (HP:0000222)
|
..Hyperkeratosis lenticularis perstans (HP:0007570)
|
..Hyperkeratosis over edematous areas (HP:0007448)
|
..Hyperkeratosis with erythema (HP:0007390)
|
..Hyperkeratotic papule (HP:0045059)
|
..Hyperparakeratosis (HP:0040009)
|
..Linear arrays of macular hyperkeratoses in flexural areas (HP:0007490)
|
..obsolete Hyperkeratosis pilaris (HP:0040180)
|
..Orthokeratotic hyperkeratosis (HP:0025080)
|
..Palmar hyperkeratosis (HP:0010765)
|
..Palmoplantar keratoderma (HP:0000982)
|
..Perifollicular hyperkeratosis (HP:0007468)
|
..Plantar hyperkeratosis (HP:0007556)
|
..Streaks of hyperkeratosis along each finger onto the palm (HP:0007501)
|
..Subungual hyperkeratotic fragments (HP:0008410)
|
| Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
|---|
HPO disease - gene - phenotype typical associations: | | HP:0008392 | HP:0008392 | Subungual hyperkeratosis | 0 | CARD14 CL E G H | 79092 | 2897 | Hypogonadism, isolated, hypogonadotropic | | | ORPHA | 1 | | 646 | 16446 | 607211 | | HP:0008392 | HP:0008392 | Subungual hyperkeratosis | 0 | CARD14 CL E G H | 79092 | 2897 | Hypogonadism, isolated, hypogonadotropic | | | ORPHA | 1 | | 527 | 16446 | 607211 | | HP:0008392 | HP:0008392 | Subungual hyperkeratosis | 0 | CARD14 CL E G H | 79092 | 173200 | Pityriasis rubra pilaris | 173200 | C0032027 | OMIM | 1 | | 527 | 16446 | 607211 | | HP:0008392 | HP:0008392 | Subungual hyperkeratosis | 0 | CARD14 CL E G H | 79092 | 173200 | Pityriasis rubra pilaris | 173200 | C0032027 | OMIM | 1 | | 646 | 16446 | 607211 | | HP:0008392 | HP:0008392 | Subungual hyperkeratosis | 0 | KRT17 CL E G H | 3872 | 167210 | Pachyonychia congenita 2 | 167210 | C1721007 | OMIM | 1 | | 59 | 6427 | 148069 | | HP:0008392 | HP:0008392 | Subungual hyperkeratosis | 0 | KRT17 CL E G H | 3872 | 167210 | Pachyonychia congenita 2 | 167210 | C1721007 | OMIM | 1 | | 54 | 6427 | 148069 | | HP:0008392 | HP:0008392 | Subungual hyperkeratosis | 0 | MBTPS2 CL E G H | 51360 | 300918 | Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked | 300918 | C3806745 | OMIM | 1 | | 242 | 15455 | 300294 | | HP:0008392 | HP:0008392 | Subungual hyperkeratosis | 0 | MBTPS2 CL E G H | 51360 | 300918 | Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked | 300918 | C3806745 | OMIM | 1 | | 231 | 15455 | 300294 | | HP:0008392 | HP:0008392 | Subungual hyperkeratosis | 0 | SLURP1 CL E G H | 57152 | 87503 | | | | ORPHA | 1 | | 80 | 18746 | 606119 | | HP:0008392 | HP:0008392 | Subungual hyperkeratosis | 0 | SLURP1 CL E G H | 57152 | 87503 | | | | ORPHA | 1 | | 81 | 18746 | 606119 | | HP:0008392 | HP:0008392 | Subungual hyperkeratosis | 0 | TRPV3 CL E G H | 162514 | 614594 | Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques | 614594 | C2609071 | OMIM | 1 | | 329 | 18084 | 607066 | | HP:0008392 | HP:0008392 | Subungual hyperkeratosis | 0 | TRPV3 CL E G H | 162514 | 614594 | Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques | 614594 | C2609071 | OMIM | 1 | | 337 | 18084 | 607066 |
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.
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