Human Phenotype Ontology 
Grandparent Node:
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Hyperkeratosis (HP:0000962)help
Parent Node:
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Palmoplantar keratoderma (HP:0000982)help
..Starting node
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Patchy palmoplantar hyperkeratosis (HP:0005588)help
Term ID: 5588
Name: Patchy palmoplantar hyperkeratosis
Synonym: Palmoplantar keratoderma, patchy; Patchy palmoplantar keratoderma
Definition: A focal type of palmoplantar keratoderma in which only certain areas of the palms and soles are affected.
Comments:
Reference: HP:0005588
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandHoneycomb palmoplantar hyperkeratosis (HP:0007465) help
..expandNonepidermolytic palmoplantar hyperkeratosis (HP:0007404) help
..expandobsolete Congenital palmoplantar keratodermia (HP:0007597) help
..expandobsolete Diffuse palmoplantar keratoderma (HP:0007435) 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:0005588HP:0005588Patchy palmoplantar hyperkeratosis0DSP CL E G H18323052ORPHA:65282Carvajal syndromeHP:0040281 - Very frequent747
HP:0005588HP:0005588Patchy palmoplantar hyperkeratosis0GJA1 CL E G H26974274ORPHA:317Erythrokeratodermia variabilisHP:0040282 - Frequent68
HP:0005588HP:0005588Patchy palmoplantar hyperkeratosis0GJB3 CL E G H27074285ORPHA:317Erythrokeratodermia variabilisHP:0040282 - Frequent74
HP:0005588HP:0005588Patchy palmoplantar hyperkeratosis0GJB3 CL E G H27074285OMIM:133200Erythrokeratodermia variabilis et progressiva 1.74
HP:0005588HP:0005588Patchy palmoplantar hyperkeratosis0GJB4 CL E G H1275344286ORPHA:317Erythrokeratodermia variabilisHP:0040282 - Frequent12
HP:0005588HP:0005588Patchy palmoplantar hyperkeratosis0KDSR CL E G H25314021ORPHA:317Erythrokeratodermia variabilisHP:0040282 - Frequent4


Genes (5) :DSP GJA1 GJB3 GJB4 KDSR

Diseases (3) :ORPHA:65282 ORPHA:317 OMIM:133200
 

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