Human Phenotype Ontology 
Grandparent Node:
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Palmar hyperkeratosis (HP:0010765)help
Grandparent Node:
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Plantar hyperkeratosis (HP:0007556)help
Parent Node:
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Palmoplantar hyperkeratosis (HP:0000972)help
..Starting node
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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.
Comments:
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
..expandPalmoplantar 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 entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0007545HP:0007545Congenital palmoplantar hyperkeratosis0CTSC CL E G H1075245010Haim-Munk syndrome245010C1855627OMIM12682528602365
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (1) :CTSC

Diseases (1) :245010
 

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