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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Broad jaw (HP:0012802)help
Term ID: 12802
Name: Broad jaw
Synonym: Broad jaw; Broad lower face; Broad mandible; Wide jaw; Wide mandible
Definition: Bigonial distance (lower facial width) more than 2 SD above the mean (objective); or an apparently increased width of the lower jaw (mandible) when viewed from the front (subjective).
Comments:
Reference: HP:0012802
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
..expandFibrous syngnathia (HP:0009754) help
..expandGiant cell granuloma of mandible (HP:0100955) help
..expandIncreased size of the mandible (HP:0040309) 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:0012802HP:0012802Broad jaw0AIP CL E G H9049358ORPHA:963AcromegalyHP:0040282 - Frequent95
HP:0012802HP:0012802Broad jaw0ANO5 CL E G H20385927337ORPHA:53697Gnathodiaphyseal dysplasiaHP:0040281 - Very frequent304
HP:0012802HP:0012802Broad jaw0GPR101 CL E G H8355014963ORPHA:963AcromegalyHP:0040282 - Frequent5
HP:0012802HP:0012802Broad jaw0LRP5 CL E G H40416697ORPHA:178377Osteosclerosis-developmental delay-craniosynostosis syndromeHP:0040281 - Very frequent125
HP:0012802HP:0012802Broad jaw0SH3BP2 CL E G H645210825ORPHA:184CherubismHP:0040281 - Very frequent177
HP:0012802HP:0012802Broad jaw0SNIP1 CL E G H7975330587OMIM:614501Psychomotor retardation, epilepsy, and craniofacial dysmorphism.3


Genes (6) :AIP ANO5 GPR101 LRP5 SH3BP2 SNIP1

Diseases (5) :ORPHA:963 ORPHA:53697 ORPHA:178377 ORPHA:184 OMIM:614501
 

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