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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Epidermal hyperkeratosis (HP:0007543)help
Term ID: 7543
Name: Epidermal hyperkeratosis
Synonym: Increased thickness of skin epidermis
Definition:
Comments:
Reference: HP:0007543
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCircumungual hyperkeratosis (HP:0008399) help
..expandCobblestone-like hyperkeratosis (HP:0031288) 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 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:0007543HP:0007543Epidermal hyperkeratosis0LMNA CL E G H40001662ORPHA114866636150330
HP:0007543HP:0007543Epidermal hyperkeratosis0LMNA CL E G H40001662ORPHA113476636150330
HP:0007543HP:0007543Epidermal hyperkeratosis0LMNA CL E G H4000275210Lethal tight skin contracture syndrome275210C0406585OMIM114866636150330
HP:0007543HP:0007543Epidermal hyperkeratosis0LMNA CL E G H4000275210Lethal tight skin contracture syndrome275210C0406585OMIM113476636150330
HP:0007543HP:0007543Epidermal hyperkeratosis0SOX18 CL E G H54345137940Glomerulonephritis with sparse hair and telangiectases137940C1841989OMIM16711194601618
HP:0007543HP:0007543Epidermal hyperkeratosis0SOX18 CL E G H54345137940Glomerulonephritis with sparse hair and telangiectases137940C1841989OMIM16911194601618
HP:0007543HP:0007543Epidermal hyperkeratosis0ZMPSTE24 CL E G H102691662ORPHA114912877606480
HP:0007543HP:0007543Epidermal hyperkeratosis0ZMPSTE24 CL E G H102691662ORPHA116712877606480
HP:0007543HP:0007543Epidermal hyperkeratosis0ZMPSTE24 CL E G H10269275210Lethal tight skin contracture syndrome275210C0406585OMIM114912877606480
HP:0007543HP:0007543Epidermal hyperkeratosis0ZMPSTE24 CL E G H10269275210Lethal tight skin contracture syndrome275210C0406585OMIM116712877606480
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (3) :LMNA SOX18 ZMPSTE24

Diseases (3) :1662 275210 137940
 

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