Human Phenotype Ontology 
Grandparent Node:
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Abnormal lip morphology (HP:0000159)help
Grandparent Node:
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Skin pit (HP:0100276)help
Parent Node:
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Lip pit (HP:0100267)help
..Starting node
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Paramedian lip pit (HP:0100269)help
Term ID: 100269
Name: Paramedian lip pit
Synonym: Paramedian labial pits
Definition: Depression located paramedially on the vermilion of a lip.
Comments:
Reference: HP:0100269
Genes and Diseases:
 
       Child Nodes:
........expandLower lip pit (HP:0000196) help
........expandUpper lip pit (HP:0100268) help

 Sister Nodes: 
..expandCommissural lip pit (HP:0002710) 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:0100269HP:0100269Paramedian lip pit0GRHL3 CL E G H5782225839ORPHA:888Van der Woude syndrome12
HP:0100269HP:0100269Paramedian lip pit0IRF6 CL E G H36646121OMIM:119500Popliteal pterygium syndrome99
HP:0100269HP:0100269Paramedian lip pit0IRF6 CL E G H36646121ORPHA:888Van der Woude syndrome99
HP:0100269HP:0100269Paramedian lip pit0IRF6 CL E G H36646121OMIM:119300van der Woude syndrome 199
HP:0100269HP:0100269Paramedian lip pit0KDM6A CL E G H740312637OMIM:300867Kabuki syndrome 253
HP:0100269HP:0100269Paramedian lip pit0TFAP2A CL E G H702011742ORPHA:1297Branchio-oculo-facial syndrome12
HP:0100269HP:0100269Paramedian lip pit0TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome12
HP:0100269HP:0000196Lower lip pit1GRHL3 CL E G H5782225839ORPHA:888Van der Woude syndromeHP:0040282 - Frequent12
HP:0100269HP:0000196Lower lip pit1IRF6 CL E G H36646121OMIM:119500Popliteal pterygium syndrome.99
HP:0100269HP:0000196Lower lip pit1IRF6 CL E G H36646121ORPHA:888Van der Woude syndromeHP:0040282 - Frequent99
HP:0100269HP:0000196Lower lip pit1IRF6 CL E G H36646121OMIM:119300van der Woude syndrome 1.99
HP:0100269HP:0000196Lower lip pit1KDM6A CL E G H740312637OMIM:300867Kabuki syndrome 253
HP:0100269HP:0100268Upper lip pit1TFAP2A CL E G H702011742ORPHA:1297Branchio-oculo-facial syndromeHP:0040283 - Occasional12
HP:0100269HP:0000196Lower lip pit1TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome.12


Genes (4) :GRHL3 IRF6 KDM6A TFAP2A

Diseases (6) :ORPHA:888 OMIM:119500 OMIM:119300 OMIM:300867 ORPHA:1297 OMIM:113620
 

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