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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Punctate palmoplantar hyperkeratosis (HP:0007530)help
Term ID: 7530
Name: Punctate palmoplantar hyperkeratosis
Synonym:
Definition:
Comments:
Reference: HP:0007530
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCongenital palmoplantar hyperkeratosis (HP:0007545) help
..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
..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:0007530HP:0007530Punctate palmoplantar hyperkeratosis0AAGAB CL E G H79719148600Keratosis palmoplantaris papulosa148600C1835662OMIM19125662614888
HP:0007530HP:0007530Punctate palmoplantar hyperkeratosis0KRT5 CL E G H3852131960Epidermolysis bullosa simplex with mottled pigmentation131960C0432316OMIM12586442148040
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (2) :AAGAB KRT5

Diseases (2) :148600 131960
 

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