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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Chapped lip (HP:0040181)help
Term ID: 40181
Name: Chapped lip
Synonym: Chapped lip; Chapped lips; Cheilitis simplex; Common cheilitis; Dry lips; Perioral dermatitis
Definition: Cracking, fissuring, and peeling of the skin of the lips.
Comments:
Reference: HP:0040181
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal lower lip morphology (HP:0000178) help
..expandAbnormal upper lip morphology (HP:0000177) help
..expandCheilitis (HP:0100825) 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:0040181HP:0040181Chapped lip0ADAM17 CL E G H6868195ORPHA:294023Neonatal inflammatory skin and bowel diseaseHP:0040282 - Frequent2
HP:0040181HP:0040181Chapped lip0EGFR CL E G H19563236ORPHA:294023Neonatal inflammatory skin and bowel diseaseHP:0040282 - Frequent257
HP:0040181HP:0040181Chapped lip0KRT6A CL E G H38536443OMIM:615726Pachyonychia congenita 3.41
HP:0040181HP:0040181Chapped lip0PKP1 CL E G H53179023ORPHA:158668Ectodermal dysplasia-skin fragility syndromeHP:0040282 - Frequent107


Genes (4) :ADAM17 EGFR KRT6A PKP1

Diseases (3) :ORPHA:294023 OMIM:615726 ORPHA:158668
 

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