Term ID: |
40162 |
Name: |
Orthokeratosis |
Synonym: |
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Definition: |
Formation of an anuclear keratin layer |
Comments: |
|
Reference: |
HP:0040162 |
Genes and Diseases: | |
Child Nodes: |
Sister Nodes: |
..Acanthosis nigricans (HP:0000956)
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..Acrokeratosis (HP:0200016)
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..Generalized keratosis follicularis (HP:0007439)
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..Hypergranulosis (HP:0025114)
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..Hyperkeratosis (HP:0000962)
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..Ichthyosis (HP:0008064)
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..Parakeratosis (HP:0001036)
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..Porokeratosis (HP:0200044)
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Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: | HPO disease - gene - phenotype less frequent non-typical associations: | HP:0040162 | HP:0040162 | Orthokeratosis | 0 | AAGAB CL E G H | 79719 | 25662 | OMIM:148600 | Palmoplantar keratoderma, punctate type IA | | | | 7 | | | HP:0040162 | HP:0040162 | Orthokeratosis | 0 | AAGAB CL E G H | 79719 | 25662 | ORPHA:79501 | Punctate palmoplantar keratoderma type 1 | HP:0040282 - Frequent | | | 7 | | | HP:0040162 | HP:0040162 | Orthokeratosis | 0 | CARD14 CL E G H | 79092 | 16446 | OMIM:173200 | Pityriasis rubra pilaris | | | | 33 | | | HP:0040162 | HP:0040162 | Orthokeratosis | 0 | CERS3 CL E G H | 204219 | 23752 | OMIM:615023 | Ichthyosis, congenital, autosomal recessive 9 | | | | 5 | | | HP:0040162 | HP:0040162 | Orthokeratosis | 0 | CLDN1 CL E G H | 9076 | 2032 | OMIM:607626 | Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis | . | | | 11 | | | HP:0040162 | HP:0040162 | Orthokeratosis | 0 | COL14A1 CL E G H | 7373 | 2191 | ORPHA:79501 | Punctate palmoplantar keratoderma type 1 | HP:0040282 - Frequent | | | 2 | | | HP:0040162 | HP:0040162 | Orthokeratosis | 0 | CSTA CL E G H | 1475 | 2481 | OMIM:607936 | Peeling skin syndrome 4 | . | | | 4 | | | HP:0040162 | HP:0040162 | Orthokeratosis | 0 | CYP4F22 CL E G H | 126410 | 26820 | OMIM:604777 | Ichthyosis, congenital, autosomal recessive 5 | HP:0040283 - Occasional | | | 54 | | | HP:0040162 | HP:0040162 | Orthokeratosis | 0 | DSG1 CL E G H | 1828 | 3048 | OMIM:615508 | Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige | . | | | 16 | | | HP:0040162 | HP:0040162 | Orthokeratosis | 0 | ENPP1 CL E G H | 5167 | 3356 | OMIM:615522 | Cole disease | | | | 151 | | | HP:0040162 | HP:0040162 | Orthokeratosis | 0 | FLG2 CL E G H | 388698 | 33276 | OMIM:618084 | Peeling skin syndrome 6 | . | | | | | | HP:0040162 | HP:0040162 | Orthokeratosis | 0 | KDF1 CL E G H | 126695 | 26624 | OMIM:617337 | Ectodermal dysplasia 12, Hypohidrotic/hair/tooth/nail type | . | | | 1 | | | HP:0040162 | HP:0040162 | Orthokeratosis | 0 | LIPN CL E G H | 643418 | 23452 | OMIM:613943 | Ichthyosis, congenital, autosomal recessive 8 | . | | | 1 | | | HP:0040162 | HP:0040162 | Orthokeratosis | 0 | LORICRIN CL E G H | 4014 | 6663 | ORPHA:79395 | Keratoderma hereditarium mutilans with ichthyosis | | | | | | | HP:0040162 | HP:0040162 | Orthokeratosis | 0 | LORICRIN CL E G H | 4014 | 6663 | OMIM:604117 | Vohwinkel syndrome, variant form | . | | | | | | HP:0040162 | HP:0040162 | Orthokeratosis | 0 | NIPAL4 CL E G H | 348938 | 28018 | OMIM:612281 | Ichthyosis, congenital, autosomal recessive 6 | | | | 60 | | | HP:0040162 | HP:0040162 | Orthokeratosis | 0 | NSDHL CL E G H | 50814 | 13398 | OMIM:308050 | Congenital hemidysplasia with ichthyosiform erythroderma and limb defects | | | | 34 | | | HP:0040162 | HP:0040162 | Orthokeratosis | 0 | WNT10A CL E G H | 80326 | 13829 | OMIM:257980 | Odontoonychodermal 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.
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