Human Phenotype Ontology 
Grandparent Node:
expand
Lip pit (HP:0100267)help
Parent Node:
expand
Abnormal lower lip morphology (HP:0000178)help
Parent Node:
expand
Paramedian lip pit (HP:0100269)help
..Starting node
..expand
Lower lip pit (HP:0000196)help
Term ID: 196
Name: Lower lip pit
Synonym:
Definition: Depression located on the vermilion of the lower lip, usually paramedian.
Comments:
Reference: HP:0000196
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandUpper lip pit (HP:0100268) 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:0000196HP:0000196Lower lip pit0GRHL3 CL E G H5782225839ORPHA:888Van der Woude syndromeHP:0040282 - Frequent12
HP:0000196HP:0000196Lower lip pit0IRF6 CL E G H36646121OMIM:119500Popliteal pterygium syndrome.99
HP:0000196HP:0000196Lower lip pit0IRF6 CL E G H36646121ORPHA:888Van der Woude syndromeHP:0040282 - Frequent99
HP:0000196HP:0000196Lower lip pit0IRF6 CL E G H36646121OMIM:119300van der Woude syndrome 1.99
HP:0000196HP:0000196Lower lip pit0KDM6A CL E G H740312637OMIM:300867Kabuki syndrome 253
HP:0000196HP:0000196Lower lip pit0TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome.12


Genes (4) :GRHL3 IRF6 KDM6A TFAP2A

Diseases (5) :ORPHA:888 OMIM:119500 OMIM:119300 OMIM:300867 OMIM:113620
 

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