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
Diffuse palmoplantar hyperkeratosis (HP:0007447)help
Term ID: 7447
Name: Diffuse palmoplantar hyperkeratosis
Synonym: Diffuse palmoplantar keratoderma; Hyperkeratosis, diffuse palmoplantar
Definition: Diffuse abnormal thickening of the skin on the palms and soles.
Reference: HP:0007447
Genes and Diseases:
       Child Nodes:

 Sister Nodes: 
..expandCongenital palmoplantar hyperkeratosis (HP:0007545) help
..expandCongenital symmetrical palmoplantar keratosis (HP:0007553) 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:0007447HP:0007447Diffuse palmoplantar hyperkeratosis0AQP5 CL E G H362638ORPHA:2337Non-epidermolytic palmoplantar keratodermaHP:0040281 - Very frequent5
HP:0007447HP:0007447Diffuse palmoplantar hyperkeratosis0AQP5 CL E G H362638OMIM:600231PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE; PPKB5
HP:0007447HP:0007447Diffuse palmoplantar hyperkeratosis0JUP CL E G H37286207OMIM:601214Naxos disease222
HP:0007447HP:0007447Diffuse palmoplantar hyperkeratosis0KLHL24 CL E G H5480025947OMIM:617294Epidermolysis bullosa simplex, generalized, with scarring and hair loss5
HP:0007447HP:0007447Diffuse palmoplantar hyperkeratosis0KRT1 CL E G H38486412ORPHA:2199Epidermolytic palmoplantar keratoderma100
HP:0007447HP:0007447Diffuse palmoplantar hyperkeratosis0KRT1 CL E G H38486412ORPHA:79503Ichthyosis hystrix of Curth-MacklinHP:0040281 - Very frequent100
HP:0007447HP:0007447Diffuse palmoplantar hyperkeratosis0KRT1 CL E G H38486412ORPHA:530838KRT1-related diffuse nonepidermolytic keratodermaHP:0040281 - Very frequent100
HP:0007447HP:0007447Diffuse palmoplantar hyperkeratosis0KRT16 CL E G H38686423ORPHA:2199Epidermolytic palmoplantar keratoderma27
HP:0007447HP:0007447Diffuse palmoplantar hyperkeratosis0KRT9 CL E G H38576447ORPHA:2199Epidermolytic palmoplantar keratoderma66
HP:0007447HP:0007447Diffuse palmoplantar hyperkeratosis0RHBDF2 CL E G H7965120788OMIM:148500Tylosis with esophageal cancer.80
HP:0007447HP:0007447Diffuse palmoplantar hyperkeratosis0SERPINA12 CL E G H14526418359ORPHA:86923Hereditary palmoplantar keratoderma, Gamborg-Nielsen typeHP:0040281 - Very frequent
HP:0007447HP:0007447Diffuse palmoplantar hyperkeratosis0SLURP1 CL E G H5715218746ORPHA:86923Hereditary palmoplantar keratoderma, Gamborg-Nielsen typeHP:0040281 - Very frequent15
HP:0007447HP:0007447Diffuse palmoplantar hyperkeratosis0SNAP29 CL E G H934211133ORPHA:66631CEDNIK syndromeHP:0040281 - Very frequent94


Diseases (10) :ORPHA:2337 OMIM:600231 OMIM:601214 OMIM:617294 ORPHA:2199 ORPHA:79503 ORPHA:530838 OMIM:148500 ORPHA:86923 ORPHA:66631

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