Human Phenotype Ontology 
Grandparent Node:
expandThickened skin (HP:0001072)help
Parent Node:
expandEpidermal thickening (HP:0011368)help
..Starting node
..expandOrthokeratosis (HP:0040162)help
Term ID: 40162
Name: Orthokeratosis
Synonym:
Definition: Formation of an anuclear keratin layer
Comments:
Reference: HP:0040162
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAcanthosis nigricans (HP:0000956) help
..expandAcrokeratosis (HP:0200016) help
..expandGeneralized keratosis follicularis (HP:0007439) help
..expandHypergranulosis (HP:0025114) help
..expandHyperkeratosis (HP:0000962) help
..expandIchthyosis (HP:0008064) 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:0040162HP:0040162Orthokeratosis0AAGAB CL E G H7971925662OMIM:148600Palmoplantar keratoderma, punctate type IA7
HP:0040162HP:0040162Orthokeratosis0AAGAB CL E G H7971925662ORPHA:79501Punctate palmoplantar keratoderma type 1HP:0040282 - Frequent7
HP:0040162HP:0040162Orthokeratosis0CARD14 CL E G H7909216446OMIM:173200Pityriasis rubra pilaris33
HP:0040162HP:0040162Orthokeratosis0CERS3 CL E G H20421923752OMIM:615023Ichthyosis, congenital, autosomal recessive 95
HP:0040162HP:0040162Orthokeratosis0CLDN1 CL E G H90762032OMIM:607626Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis.11
HP:0040162HP:0040162Orthokeratosis0COL14A1 CL E G H73732191ORPHA:79501Punctate palmoplantar keratoderma type 1HP:0040282 - Frequent2
HP:0040162HP:0040162Orthokeratosis0CSTA CL E G H14752481OMIM:607936Peeling skin syndrome 4.4
HP:0040162HP:0040162Orthokeratosis0CYP4F22 CL E G H12641026820OMIM:604777Ichthyosis, congenital, autosomal recessive 5HP:0040283 - Occasional54
HP:0040162HP:0040162Orthokeratosis0DSG1 CL E G H18283048OMIM:615508Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige.16
HP:0040162HP:0040162Orthokeratosis0ENPP1 CL E G H51673356OMIM:615522Cole disease151
HP:0040162HP:0040162Orthokeratosis0FLG2 CL E G H38869833276OMIM:618084Peeling skin syndrome 6.
HP:0040162HP:0040162Orthokeratosis0KDF1 CL E G H12669526624OMIM:617337Ectodermal dysplasia 12, Hypohidrotic/hair/tooth/nail type.1
HP:0040162HP:0040162Orthokeratosis0LIPN CL E G H64341823452OMIM:613943Ichthyosis, congenital, autosomal recessive 8.1
HP:0040162HP:0040162Orthokeratosis0LORICRIN CL E G H40146663ORPHA:79395Keratoderma hereditarium mutilans with ichthyosis
HP:0040162HP:0040162Orthokeratosis0LORICRIN CL E G H40146663OMIM:604117Vohwinkel syndrome, variant form.
HP:0040162HP:0040162Orthokeratosis0NIPAL4 CL E G H34893828018OMIM:612281Ichthyosis, congenital, autosomal recessive 660
HP:0040162HP:0040162Orthokeratosis0NSDHL CL E G H5081413398OMIM:308050Congenital hemidysplasia with ichthyosiform erythroderma and limb defects34
HP:0040162HP:0040162Orthokeratosis0WNT10A CL E G H8032613829OMIM:257980Odontoonychodermal dysplasia.71


Genes (16) :AAGAB CARD14 CERS3 CLDN1 COL14A1 CSTA CYP4F22 DSG1 ENPP1 FLG2 KDF1 LIPN LORICRIN NIPAL4 NSDHL WNT10A

Diseases (17) :OMIM:148600 ORPHA:79501 OMIM:173200 OMIM:615023 OMIM:607626 OMIM:607936 OMIM:604777 OMIM:615508 OMIM:615522 OMIM:618084 OMIM:617337 OMIM:613943 ORPHA:79395 OMIM:604117 OMIM:612281 OMIM:308050 OMIM:257980
 

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