Human Phenotype Ontology 
Grandparent Node:
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Abnormal jaw morphology (HP:0030791)help
Parent Node:
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Abnormal mandible morphology (HP:0000277)help
..Starting node
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Increased size of the mandible (HP:0040309)help
Term ID: 40309
Name: Increased size of the mandible
Synonym: Large jaw
Definition:
Comments:
Reference: HP:0040309
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal mandible condylar process morphology (HP:3000077) help
..expandAbnormal mandible coronoid process morphology (HP:3000078) help
..expandAbnormal mandibular ramus morphology (HP:3000003) help
..expandAbnormality of the temporomandibular joint (HP:0010754) help
..expandAplasia/Hypoplasia of the mandible (HP:0009118) help
..expandAsymmetry of the mandible (HP:0009940) help
..expandBroad jaw (HP:0012802) help
..expandFibrous syngnathia (HP:0009754) help
..expandGiant cell granuloma of mandible (HP:0100955) help
..expandJaw ankylosis (HP:0040263) help
..expandMandibular osteomyelitis (HP:0007626) help
..expandMandibular pain (HP:0200025) help
..expandMandibular prognathia (HP:0000303) help
..expandMidline defect of mandible (HP:0010753) help
..expandNarrow jaw (HP:0012801) help
..expandObtuse angle of mandible (HP:0005446) help
..expandRecurrent mandibular subluxations (HP:0005332) help
..expandRetrognathia (HP:0000278) help
..expandTrismus (HP:0000211) 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:0040309HP:0040309Increased size of the mandible0FLNA CL E G H23163754OMIM:300048Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked.493
HP:0040309HP:0040309Increased size of the mandible0ZBTB20 CL E G H2613713503OMIM:259050Primrose syndrome17


Genes (2) :FLNA ZBTB20

Diseases (2) :OMIM:300048 OMIM:259050
 

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