Human Phenotype Ontology 
Grandparent Node:
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Abnormal oral cavity morphology (HP:0000163)help
Parent Node:
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Abnormal lip morphology (HP:0000159)help
..Starting node
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Cheilitis (HP:0100825)help
Term ID: 100825
Name: Cheilitis
Synonym: Inflammation of the lips; Red and sore lips
Definition: Inflammation of the lip.
Comments:
Reference: HP:0100825
Genes and Diseases:
 
       Child Nodes:
........expandAngular cheilitis (HP:0030318) help

 Sister Nodes: 
..expandAbnormal lower lip morphology (HP:0000178) help
..expandAbnormal upper lip morphology (HP:0000177) help
..expandChapped lip (HP:0040181) help
..expandEclabion (HP:0012472) help
..expandFused lips (HP:0100788) help
..expandLip discoloration (HP:0025118) help
..expandLip fissure (HP:0031250) help
..expandLip freckle (HP:0010798) help
..expandLip hyperpigmentation (HP:0100816) help
..expandLip pit (HP:0100267) help
..expandLip telangiectasia (HP:0000214) help
..expandNeoplasm of the lip (HP:0100604) help
..expandSwollen lip (HP:0031244) help
..expandThick vermilion border (HP:0012471) help
..expandThin vermilion border (HP:0000233) help
..expandVascular malformation of the lip (HP:0031486) 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:0100825HP:0100825Cheilitis0AMN CL E G H8169314604ORPHA:35858Imerslund-Gräsbeck syndrome25
HP:0100825HP:0100825Cheilitis0BLM CL E G H6411058ORPHA:125Bloom syndromeHP:0040283 - Occasional314
HP:0100825HP:0100825Cheilitis0CAST CL E G H8311515OMIM:616295Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads4
HP:0100825HP:0100825Cheilitis0CLEC7A CL E G H6458114558ORPHA:1334Chronic mucocutaneous candidiasisHP:0040281 - Very frequent3
HP:0100825HP:0100825Cheilitis0CUBN CL E G H80292548ORPHA:35858Imerslund-Gräsbeck syndrome273
HP:0100825HP:0100825Cheilitis0DSC3 CL E G H18253037OMIM:613102HYPOTRICHOSIS AND RECURRENT SKIN VESICLES2
HP:0100825HP:0100825Cheilitis0FERMT1 CL E G H5561215889ORPHA:2908Kindler epidermolysis bullosaHP:0040281 - Very frequent136
HP:0100825HP:0100825Cheilitis0GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0100825HP:0100825Cheilitis0GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0100825HP:0100825Cheilitis0IL17F CL E G H11274416404ORPHA:1334Chronic mucocutaneous candidiasisHP:0040281 - Very frequent14
HP:0100825HP:0100825Cheilitis0IL17RA CL E G H237655985ORPHA:1334Chronic mucocutaneous candidiasisHP:0040281 - Very frequent196
HP:0100825HP:0100825Cheilitis0IL17RC CL E G H8481818358ORPHA:1334Chronic mucocutaneous candidiasisHP:0040281 - Very frequent4
HP:0100825HP:0100825Cheilitis0KRT16 CL E G H38686423ORPHA:2309Pachyonychia congenita27
HP:0100825HP:0100825Cheilitis0KRT17 CL E G H38726427ORPHA:2309Pachyonychia congenita23
HP:0100825HP:0100825Cheilitis0KRT17 CL E G H38726427OMIM:167210Pachyonychia congenita 223
HP:0100825HP:0100825Cheilitis0KRT6A CL E G H38536443ORPHA:2309Pachyonychia congenita41
HP:0100825HP:0100825Cheilitis0KRT6B CL E G H38546444ORPHA:2309Pachyonychia congenita4
HP:0100825HP:0100825Cheilitis0MBTPS2 CL E G H5136015455ORPHA:2273Ichthyosis follicularis-alopecia-photophobia syndromeHP:0040283 - Occasional22
HP:0100825HP:0100825Cheilitis0OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of LoweHP:0040283 - Occasional88
HP:0100825HP:0100825Cheilitis0PERP CL E G H6406517637OMIM:619208OLMSTED SYNDROME 2; OLMS2
HP:0100825HP:0100825Cheilitis0PKP1 CL E G H53179023ORPHA:158668Ectodermal dysplasia-skin fragility syndromeHP:0040283 - Occasional107
HP:0100825HP:0100825Cheilitis0SLC39A4 CL E G H5563017129ORPHA:37Acrodermatitis enteropathicaHP:0040282 - Frequent55
HP:0100825HP:0100825Cheilitis0SLC46A1 CL E G H11323530521ORPHA:90045Hereditary folate malabsorptionHP:0040281 - Very frequent101
HP:0100825HP:0100825Cheilitis0SREBF1 CL E G H672011289OMIM:619016IFAP SYNDROME 2; IFAP21
HP:0100825HP:0100825Cheilitis0TRAF3IP2 CL E G H107581343ORPHA:1334Chronic mucocutaneous candidiasisHP:0040281 - Very frequent4
HP:0100825HP:0030318Angular cheilitis1AMN CL E G H8169314604ORPHA:35858Imerslund-Gräsbeck syndromeHP:0040283 - Occasional25
HP:0100825HP:0030318Angular cheilitis1CAST CL E G H8311515OMIM:616295Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads.4
HP:0100825HP:0030318Angular cheilitis1CUBN CL E G H80292548ORPHA:35858Imerslund-Gräsbeck syndromeHP:0040283 - Occasional273
HP:0100825HP:0030318Angular cheilitis1DSC3 CL E G H18253037OMIM:613102HYPOTRICHOSIS AND RECURRENT SKIN VESICLES2
HP:0100825HP:0030318Angular cheilitis1GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0100825HP:0030318Angular cheilitis1GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0100825HP:0030318Angular cheilitis1KRT16 CL E G H38686423ORPHA:2309Pachyonychia congenitaHP:0040284 - Very rare27
HP:0100825HP:0030318Angular cheilitis1KRT17 CL E G H38726427ORPHA:2309Pachyonychia congenitaHP:0040284 - Very rare23
HP:0100825HP:0030318Angular cheilitis1KRT17 CL E G H38726427OMIM:167210Pachyonychia congenita 223
HP:0100825HP:0030318Angular cheilitis1KRT6A CL E G H38536443ORPHA:2309Pachyonychia congenitaHP:0040284 - Very rare41
HP:0100825HP:0030318Angular cheilitis1KRT6B CL E G H38546444ORPHA:2309Pachyonychia congenitaHP:0040284 - Very rare4
HP:0100825HP:0030318Angular cheilitis1SREBF1 CL E G H672011289OMIM:619016IFAP SYNDROME 2; IFAP21


Genes (24) :AMN BLM CAST CLEC7A CUBN DSC3 FERMT1 GJB2 GJB6 IL17F IL17RA IL17RC KRT16 KRT17 KRT6A KRT6B MBTPS2 OCRL PERP PKP1 SLC39A4 SLC46A1 SREBF1 TRAF3IP2

Diseases (16) :ORPHA:35858 ORPHA:125 OMIM:616295 ORPHA:1334 OMIM:613102 ORPHA:2908 ORPHA:477 ORPHA:2309 OMIM:167210 ORPHA:2273 ORPHA:534 OMIM:619208 ORPHA:158668 ORPHA:37 ORPHA:90045 OMIM:619016
 

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