Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal oral cavity morphology (HP:0000163)help
Parent Node:
expand
Abnormality of the dentition (HP:0000164)help
..Starting node
..expand
Abnormality of premolar (HP:0011076)help
Term ID: 11076
Name: Abnormality of premolar
Synonym: Abnormality of bicuspid; Abnormality of premolar
Definition: An abnormality of premolar tooth.
Comments:
Reference: HP:0011076
Genes and Diseases:
 
       Child Nodes:
........expandAgenesis of premolar (HP:0011051) help
................... HP:0011052 Agenesis of maxillary premolar
................... HP:0011053 Agenesis of mandibular premolar
........expandAbnormality of premolar morphology (HP:0011080) help
................... HP:0006338 Malformation of mandibular premolar
................... HP:0011093 Molarization of premolar

 Sister Nodes: 
..expandAbnormal number of teeth (HP:0006483) help
..expandAbnormal periodontium morphology (HP:0410026) help
..expandAbnormality of canine (HP:0011078) help
..expandAbnormality of dental eruption (HP:0006292) help
..expandAbnormality of dental morphology (HP:0006482) help
..expandAbnormality of dental structure (HP:0011061) help
..expandAbnormality of molar (HP:0011077) help
..expandAbnormality of primary teeth (HP:0006481) help
..expandAbnormality of the incisor (HP:0000676) help
..expandBuried teeth encased in mucopolysaccharide (HP:0006326) help
..expandFragile teeth (HP:0025124) help
..expandIrregular dentition (HP:0040079) help
..expandOdontogenic neoplasm (HP:0100612) help
..expandPeriapical bone loss (HP:0000700) help
..expandPeriodontitis (HP:0000704) help
..expandPremature loss of teeth (HP:0006480) help
..expandTooth malposition (HP:0000692) 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:0011076HP:0011076Abnormality of premolar0AXIN2 CL E G H8313904ORPHA:99798Oligodontia435
HP:0011076HP:0011076Abnormality of premolar0EDA CL E G H18963157ORPHA:99798Oligodontia115
HP:0011076HP:0011076Abnormality of premolar0EDA CL E G H18963157OMIM:313500TOOTH AGENESIS, SELECTIVE, X-LINKED, 1; STHAGX1115
HP:0011076HP:0011076Abnormality of premolar0EDARADD CL E G H12817814341ORPHA:99798Oligodontia56
HP:0011076HP:0011076Abnormality of premolar0FGF3 CL E G H22483681ORPHA:2791Otodental syndrome18
HP:0011076HP:0011076Abnormality of premolar0FGFR1 CL E G H22603688ORPHA:99798Oligodontia172
HP:0011076HP:0011076Abnormality of premolar0IRF6 CL E G H36646121ORPHA:99798Oligodontia99
HP:0011076HP:0011076Abnormality of premolar0LRP6 CL E G H40406698ORPHA:99798Oligodontia26
HP:0011076HP:0011076Abnormality of premolar0MSX1 CL E G H44877391ORPHA:99798Oligodontia12
HP:0011076HP:0011076Abnormality of premolar0PAX9 CL E G H50838623ORPHA:99798Oligodontia58
HP:0011076HP:0011076Abnormality of premolar0SUMO1 CL E G H734112502ORPHA:99798Oligodontia8
HP:0011076HP:0011076Abnormality of premolar0TGFA CL E G H703911765ORPHA:99798Oligodontia
HP:0011076HP:0011076Abnormality of premolar0WNT10A CL E G H8032613829ORPHA:99798Oligodontia71
HP:0011076HP:0011076Abnormality of premolar0WNT10B CL E G H748012775ORPHA:99798Oligodontia4
HP:0011076HP:0011080Abnormal premolar morphology1 CL E G H
HP:0011076HP:0011051Agenesis of premolar1AXIN2 CL E G H8313904ORPHA:99798OligodontiaHP:0040282 - Frequent435
HP:0011076HP:0011051Agenesis of premolar1EDA CL E G H18963157ORPHA:99798OligodontiaHP:0040282 - Frequent115
HP:0011076HP:0011051Agenesis of premolar1EDA CL E G H18963157OMIM:313500TOOTH AGENESIS, SELECTIVE, X-LINKED, 1; STHAGX1115
HP:0011076HP:0011051Agenesis of premolar1EDARADD CL E G H12817814341ORPHA:99798OligodontiaHP:0040282 - Frequent56
HP:0011076HP:0011051Agenesis of premolar1FGF3 CL E G H22483681ORPHA:2791Otodental syndromeHP:0040282 - Frequent18
HP:0011076HP:0011051Agenesis of premolar1FGFR1 CL E G H22603688ORPHA:99798OligodontiaHP:0040282 - Frequent172
HP:0011076HP:0011051Agenesis of premolar1IRF6 CL E G H36646121ORPHA:99798OligodontiaHP:0040282 - Frequent99
HP:0011076HP:0011051Agenesis of premolar1LRP6 CL E G H40406698ORPHA:99798OligodontiaHP:0040282 - Frequent26
HP:0011076HP:0011051Agenesis of premolar1MSX1 CL E G H44877391ORPHA:99798OligodontiaHP:0040282 - Frequent12
HP:0011076HP:0011051Agenesis of premolar1PAX9 CL E G H50838623ORPHA:99798OligodontiaHP:0040282 - Frequent58
HP:0011076HP:0011051Agenesis of premolar1SUMO1 CL E G H734112502ORPHA:99798OligodontiaHP:0040282 - Frequent8
HP:0011076HP:0011051Agenesis of premolar1TGFA CL E G H703911765ORPHA:99798OligodontiaHP:0040282 - Frequent
HP:0011076HP:0011051Agenesis of premolar1WNT10A CL E G H8032613829ORPHA:99798OligodontiaHP:0040282 - Frequent71
HP:0011076HP:0011051Agenesis of premolar1WNT10B CL E G H748012775ORPHA:99798OligodontiaHP:0040282 - Frequent4
HP:0011076HP:0011093Molarization of premolar2 CL E G H
HP:0011076HP:0011052Agenesis of maxillary premolar2 CL E G H
HP:0011076HP:0006338Malformation of mandibular premolar2 CL E G H
HP:0011076HP:0011053Agenesis of mandibular premolar2AXIN2 CL E G H8313904ORPHA:99798OligodontiaHP:0040283 - Occasional435
HP:0011076HP:0011053Agenesis of mandibular premolar2EDA CL E G H18963157ORPHA:99798OligodontiaHP:0040283 - Occasional115
HP:0011076HP:0011053Agenesis of mandibular premolar2EDARADD CL E G H12817814341ORPHA:99798OligodontiaHP:0040283 - Occasional56
HP:0011076HP:0011053Agenesis of mandibular premolar2FGFR1 CL E G H22603688ORPHA:99798OligodontiaHP:0040283 - Occasional172
HP:0011076HP:0011053Agenesis of mandibular premolar2IRF6 CL E G H36646121ORPHA:99798OligodontiaHP:0040283 - Occasional99
HP:0011076HP:0011053Agenesis of mandibular premolar2LRP6 CL E G H40406698ORPHA:99798OligodontiaHP:0040283 - Occasional26
HP:0011076HP:0011053Agenesis of mandibular premolar2MSX1 CL E G H44877391ORPHA:99798OligodontiaHP:0040283 - Occasional12
HP:0011076HP:0011053Agenesis of mandibular premolar2PAX9 CL E G H50838623ORPHA:99798OligodontiaHP:0040283 - Occasional58
HP:0011076HP:0011053Agenesis of mandibular premolar2SUMO1 CL E G H734112502ORPHA:99798OligodontiaHP:0040283 - Occasional8
HP:0011076HP:0011053Agenesis of mandibular premolar2TGFA CL E G H703911765ORPHA:99798OligodontiaHP:0040283 - Occasional
HP:0011076HP:0011053Agenesis of mandibular premolar2WNT10A CL E G H8032613829ORPHA:99798OligodontiaHP:0040283 - Occasional71
HP:0011076HP:0011053Agenesis of mandibular premolar2WNT10B CL E G H748012775ORPHA:99798OligodontiaHP:0040283 - Occasional4


Genes (13) :AXIN2 EDA EDARADD FGF3 FGFR1 IRF6 LRP6 MSX1 PAX9 SUMO1 TGFA WNT10A WNT10B

Diseases (3) :ORPHA:99798 OMIM:313500 ORPHA:2791
 

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