Human Phenotype Ontology 
Grandparent Node:
Epidermal thickening (HP:0011368)help
Parent Node:
Hyperkeratosis (HP:0000962)help
..Starting node
Cobblestone-like hyperkeratosis (HP:0031288)help
Term ID: 31288
Name: Cobblestone-like hyperkeratosis
Definition: The presence of verrucous, cobblestone-like papules and nodules in a region of skin that is said to have an appearance like that of cobblestones.
Reference: HP:0031288
Genes and Diseases:
       Child Nodes:

 Sister Nodes: 
..expandCircumungual hyperkeratosis (HP:0008399) 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 hyperkeratosis (HP:0008392) help
..expandSubungual hyperkeratotic fragments (HP:0008410) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031288HP:0031288Cobblestone-like hyperkeratosis0EPHB4 CL E G H20503395ORPHA:90186Meige diseaseHP:0040282 - Frequent3
HP:0031288HP:0031288Cobblestone-like hyperkeratosis0GJB2 CL E G H27064284OMIM:602540Ichthyosis, hystrix-like, with deafness199
HP:0031288HP:0031288Cobblestone-like hyperkeratosis0GJB6 CL E G H108044288ORPHA:189Hidrotic ectodermal dysplasia56

Genes (3) :EPHB4 GJB2 GJB6

Diseases (3) :ORPHA:90186 OMIM:602540 ORPHA:189

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.