Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the face (HP:0000271)help
Parent Node:
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Abnormality of the chin (HP:0000306)help
..Starting node
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Cleft of chin (HP:0011323)help
Term ID: 11323
Name: Cleft of chin
Synonym: Cleft of chin; Midline defect of chin
Definition: Incomplete fusion of the chin, resulting from a developmental defect and manifesting as a midline cleft or fissure of the chin.
Comments:
Reference: HP:0011323
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormality of depressor labii inferioris (HP:3000029) help
..expandAbnormality of mentalis muscle (HP:3000007) help
..expandBroad chin (HP:0011822) help
..expandChin with H-shaped crease (HP:0011824) help
..expandChin with horizontal crease (HP:0011823) help
..expandChin with vertical crease (HP:0400001) help
..expandDimple chin (HP:0010751) help
..expandMandibular prognathia (HP:0000303) help
..expandPointed chin (HP:0000307) help
..expandShort chin (HP:0000331) help
..expandTall chin (HP:0400000) 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:0011323HP:0011323Cleft of chin0FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome.175
HP:0011323HP:0011323Cleft of chin0TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome12
HP:0011323HP:0011323Cleft of chin0TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome.18


Genes (3) :FGFR2 TFAP2A TWIST1

Diseases (2) :OMIM:101400 OMIM:113620
 

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