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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obsolete Hyperkeratosis pilaris (HP:0040180)help
Term ID: 40180
Name: obsolete Hyperkeratosis pilaris
Synonym:
Definition:
Comments:
Reference: HP:0040180
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
..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:0040180HP:0040180obsolete Hyperkeratosis pilaris0MAP2K1 CL E G H5604615279Cardiofaciocutaneous syndrome 3615279C3809006OMIM13066840176872
HP:0040180HP:0040180obsolete Hyperkeratosis pilaris0MAP2K1 CL E G H5604615279Cardiofaciocutaneous syndrome 3615279C3809006OMIM13366840176872
HP:0040180HP:0040180obsolete Hyperkeratosis pilaris0SOS2 CL E G H6655616559Noonan syndrome 9616559C4225282OMIM165711188601247
HP:0040180HP:0040180obsolete Hyperkeratosis pilaris0SOS2 CL E G H6655616559Noonan syndrome 9616559C4225282OMIM150611188601247
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0040180HP:0040180obsolete Hyperkeratosis pilaris0NLRP1 CL E G H22861615225Palmoplantar carcinoma, multiple self-healing615225C3808876OMIM038714374606636
HP:0040180HP:0040180obsolete Hyperkeratosis pilaris0NLRP1 CL E G H22861615225Palmoplantar carcinoma, multiple self-healing615225C3808876OMIM020214374606636


Genes (3) :MAP2K1 NLRP1 SOS2

Diseases (3) :615279 615225 616559
 

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