Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the dentition (HP:0000164)help
Grandparent Node:
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Neoplasm of the oral cavity (HP:0100649)help
Parent Node:
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Odontogenic neoplasm (HP:0100612)help
..Starting node
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Odontogenic keratocysts of the jaw (HP:0010603)help
Term ID: 10603
Name: Odontogenic keratocysts of the jaw
Synonym: Keratocystic odontogenic tumor; Keratocystic odontogenic tumour; Keratocysts of the jaw
Definition: A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behaviour.
Comments:
Reference: HP:0010603
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCementoma (HP:0012328) help
..expandOdontoma (HP:0011068) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0010603HP:0010603Odontogenic keratocysts of the jaw0PTCH1 CL E G H572777301ORPHA129889585601309
HP:0010603HP:0010603Odontogenic keratocysts of the jaw0PTCH1 CL E G H572777301ORPHA126289585601309
HP:0010603HP:0010603Odontogenic keratocysts of the jaw0PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM129889585601309
HP:0010603HP:0010603Odontogenic keratocysts of the jaw0PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM126289585601309
HP:0010603HP:0010603Odontogenic keratocysts of the jaw0PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM15419586603673
HP:0010603HP:0010603Odontogenic keratocysts of the jaw0PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM14269586603673
HP:0010603HP:0010603Odontogenic keratocysts of the jaw0SUFU CL E G H51684109400Gorlin syndrome109400C0004779OMIM181516466607035
HP:0010603HP:0010603Odontogenic keratocysts of the jaw0SUFU CL E G H51684109400Gorlin syndrome109400C0004779OMIM170316466607035
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (3) :PTCH1 PTCH2 SUFU

Diseases (2) :77301 109400
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.