Human Phenotype Ontology 
Grandparent Node:
Palmar hyperkeratosis (HP:0010765)help
Grandparent Node:
Plantar hyperkeratosis (HP:0007556)help
Parent Node:
Palmoplantar hyperkeratosis (HP:0000972)help
..Starting node
Congenital palmoplantar hyperkeratosis (HP:0007545)help
Term ID: 7545
Name: Congenital palmoplantar hyperkeratosis
Synonym: Congenital palmoplantar keratoderma; Congenital palmoplantar keratodermia; Congenital palmoplantar keratosis
Definition: Abnormal thickening of the skin on the palms and soles that is present at birth.
Reference: HP:0007545
Genes and Diseases:
       Child Nodes:

 Sister Nodes: 
..expandCongenital symmetrical palmoplantar keratosis (HP:0007553) help
..expandDiffuse palmoplantar hyperkeratosis (HP:0007447) help
..expandFocal friction-related palmoplantar hyperkeratosis (HP:0007497) help
..expandobsolete Palmoplantar keratosis with erythema and scale (HP:0007548) help
..expandPunctate palmoplantar hyperkeratosis (HP:0007530) help
..expandSpinous keratoses of palms and soles (HP:0007613) 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:0007545HP:0007545Congenital palmoplantar hyperkeratosis0CTSC CL E G H10752528OMIM:245010Haim-Munk syndrome.50
HP:0007545HP:0007545Congenital palmoplantar hyperkeratosis0SMARCAD1 CL E G H5691618398OMIM:181600Huriez syndrome6
HP:0007545HP:0007545Congenital palmoplantar hyperkeratosis0VPS33B CL E G H2627612712OMIM:62000963


Diseases (3) :OMIM:245010 OMIM:181600 OMIM:620009

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