Human Phenotype Ontology 
Grandparent Node:
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Thickened skin (HP:0001072)help
Parent Node:
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Epidermal thickening (HP:0011368)help
..Starting node
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Hypergranulosis (HP:0025114)help
Term ID: 25114
Name: Hypergranulosis
Synonym:
Definition: Hypergranulosis is an increased thickness of the stratum granulosum.
Comments:
Reference: HP:0025114
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAcanthosis nigricans (HP:0000956) help
..expandAcrokeratosis (HP:0200016) help
..expandGeneralized keratosis follicularis (HP:0007439) help
..expandHyperkeratosis (HP:0000962) help
..expandIchthyosis (HP:0008064) help
..expandOrthokeratosis (HP:0040162) help
..expandParakeratosis (HP:0001036) help
..expandPorokeratosis (HP:0200044) 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:0025114HP:0025114Hypergranulosis0AAGAB CL E G H7971925662OMIM:148600Palmoplantar keratoderma, punctate type IA7
HP:0025114HP:0025114Hypergranulosis0AAGAB CL E G H7971925662ORPHA:79501Punctate palmoplantar keratoderma type 1HP:0040282 - Frequent7
HP:0025114HP:0025114Hypergranulosis0ALOX12B CL E G H242430OMIM:242100Ichthyosis, congenital, autosomal recessive 2.75
HP:0025114HP:0025114Hypergranulosis0ALOXE3 CL E G H5934413743OMIM:242100Ichthyosis, congenital, autosomal recessive 2.63
HP:0025114HP:0025114Hypergranulosis0ATP2A2 CL E G H488812ORPHA:79151Acrokeratosis verruciformis of HopfHP:0040281 - Very frequent86
HP:0025114HP:0025114Hypergranulosis0CARD14 CL E G H7909216446OMIM:173200Pityriasis rubra pilaris33
HP:0025114HP:0025114Hypergranulosis0CERS3 CL E G H20421923752OMIM:615023Ichthyosis, congenital, autosomal recessive 9.5
HP:0025114HP:0025114Hypergranulosis0COL14A1 CL E G H73732191ORPHA:79501Punctate palmoplantar keratoderma type 1HP:0040282 - Frequent2
HP:0025114HP:0025114Hypergranulosis0DSG1 CL E G H18283048OMIM:615508Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige.16
HP:0025114HP:0025114Hypergranulosis0DSG1 CL E G H18283048OMIM:148700Keratosis palmoplantaris striata I.16
HP:0025114HP:0025114Hypergranulosis0ENPP1 CL E G H51673356OMIM:615522Cole disease.151
HP:0025114HP:0025114Hypergranulosis0GJA1 CL E G H26974274OMIM:617525Erythrokeratodermia variabilis et progressiva 3.68
HP:0025114HP:0025114Hypergranulosis0GJB3 CL E G H27074285OMIM:133200Erythrokeratodermia variabilis et progressiva 1.74
HP:0025114HP:0025114Hypergranulosis0KRT1 CL E G H38486412ORPHA:2199Epidermolytic palmoplantar keratoderma100
HP:0025114HP:0025114Hypergranulosis0KRT16 CL E G H38686423ORPHA:2199Epidermolytic palmoplantar keratoderma27
HP:0025114HP:0025114Hypergranulosis0KRT9 CL E G H38576447ORPHA:2199Epidermolytic palmoplantar keratoderma66
HP:0025114HP:0025114Hypergranulosis0LIPN CL E G H64341823452OMIM:613943Ichthyosis, congenital, autosomal recessive 8.1
HP:0025114HP:0025114Hypergranulosis0LORICRIN CL E G H40146663ORPHA:79395Keratoderma hereditarium mutilans with ichthyosis
HP:0025114HP:0025114Hypergranulosis0LORICRIN CL E G H40146663OMIM:604117Vohwinkel syndrome, variant form.
HP:0025114HP:0025114Hypergranulosis0PNPLA1 CL E G H28584821246OMIM:615024Ichthyosis, congenital, autosomal recessive 10.47
HP:0025114HP:0025114Hypergranulosis0POGLUT1 CL E G H5698322954OMIM:615696Dowling-Degos disease 4.6
HP:0025114HP:0025114Hypergranulosis0SDR9C7 CL E G H12121429958OMIM:617574Ichthyosis, congenital, autosomal recessive 13.2
HP:0025114HP:0025114Hypergranulosis0SERPINB7 CL E G H871013902OMIM:615598Palmoplantar keratoderma, Nagashima type.4
HP:0025114HP:0025114Hypergranulosis0WNT10A CL E G H8032613829OMIM:257980Odontoonychodermal dysplasia.71


Genes (21) :AAGAB ALOX12B ALOXE3 ATP2A2 CARD14 CERS3 COL14A1 DSG1 ENPP1 GJA1 GJB3 KRT1 KRT16 KRT9 LIPN LORICRIN PNPLA1 POGLUT1 SDR9C7 SERPINB7 WNT10A

Diseases (20) :OMIM:148600 ORPHA:79501 OMIM:242100 ORPHA:79151 OMIM:173200 OMIM:615023 OMIM:615508 OMIM:148700 OMIM:615522 OMIM:617525 OMIM:133200 ORPHA:2199 OMIM:613943 ORPHA:79395 OMIM:604117 OMIM:615024 OMIM:615696 OMIM:617574 OMIM:615598 OMIM:257980
 

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