Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the mouth (HP:0000153)help
Parent Node:
expand
Abnormal mandible morphology (HP:0000277)help
Parent Node:
expand
Abnormal oral morphology (HP:0031816)help
..Starting node
..expand
Abnormal mandible condylar process morphology (HP:3000077)help
Term ID: 3000077
Name: Abnormal mandible condylar process morphology
Synonym: Abnormality of mandible condylar process
Definition: An abnormality of a mandible condylar process.
Comments:
Reference: HP:3000077
Genes and Diseases:
 
       Child Nodes:
........expandShort mandibular condyles (HP:0005790) help
................... HP:0007627 Mandibular condyle aplasia
................... HP:0007628 Mandibular condyle hypoplasia

 Sister Nodes: 
..expandAbnormal inferior alveolar artery morphology (HP:3000054) help
..expandAbnormal mandible coronoid process morphology (HP:3000078) help
..expandAbnormal oral cavity morphology (HP:0000163) help
..expandOral cleft (HP:0000202) help
..expandPierre-Robin sequence (HP:0000201) 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:3000077HP:3000077Abnormal mandible condylar process morphology0EDN1 CL E G H19063176ORPHA:137888Auriculocondylar syndrome6
HP:3000077HP:3000077Abnormal mandible condylar process morphology0GNAI3 CL E G H27734387ORPHA:137888Auriculocondylar syndrome2
HP:3000077HP:3000077Abnormal mandible condylar process morphology0GNAI3 CL E G H27734387OMIM:602483Auriculocondylar syndrome 12
HP:3000077HP:3000077Abnormal mandible condylar process morphology0PLCB4 CL E G H53329059ORPHA:137888Auriculocondylar syndrome82
HP:3000077HP:3000077Abnormal mandible condylar process morphology0PLCB4 CL E G H53329059OMIM:614669Auriculocondylar syndrome 282
HP:3000077HP:0005790Short mandibular condyles1EDN1 CL E G H19063176ORPHA:137888Auriculocondylar syndrome6
HP:3000077HP:0005790Short mandibular condyles1GNAI3 CL E G H27734387ORPHA:137888Auriculocondylar syndrome2
HP:3000077HP:0005790Short mandibular condyles1GNAI3 CL E G H27734387OMIM:602483Auriculocondylar syndrome 12
HP:3000077HP:0005790Short mandibular condyles1PLCB4 CL E G H53329059ORPHA:137888Auriculocondylar syndrome82
HP:3000077HP:0005790Short mandibular condyles1PLCB4 CL E G H53329059OMIM:614669Auriculocondylar syndrome 282
HP:3000077HP:0007627Mandibular condyle aplasia2EDN1 CL E G H19063176ORPHA:137888Auriculocondylar syndromeHP:0040283 - Occasional6
HP:3000077HP:0007628Mandibular condyle hypoplasia2EDN1 CL E G H19063176ORPHA:137888Auriculocondylar syndromeHP:0040281 - Very frequent6
HP:3000077HP:0007628Mandibular condyle hypoplasia2GNAI3 CL E G H27734387ORPHA:137888Auriculocondylar syndromeHP:0040281 - Very frequent2
HP:3000077HP:0007627Mandibular condyle aplasia2GNAI3 CL E G H27734387ORPHA:137888Auriculocondylar syndromeHP:0040283 - Occasional2
HP:3000077HP:0007627Mandibular condyle aplasia2GNAI3 CL E G H27734387OMIM:602483Auriculocondylar syndrome 1.2
HP:3000077HP:0007628Mandibular condyle hypoplasia2GNAI3 CL E G H27734387OMIM:602483Auriculocondylar syndrome 1.2
HP:3000077HP:0007627Mandibular condyle aplasia2PLCB4 CL E G H53329059ORPHA:137888Auriculocondylar syndromeHP:0040283 - Occasional82
HP:3000077HP:0007628Mandibular condyle hypoplasia2PLCB4 CL E G H53329059ORPHA:137888Auriculocondylar syndromeHP:0040281 - Very frequent82
HP:3000077HP:0007628Mandibular condyle hypoplasia2PLCB4 CL E G H53329059OMIM:614669Auriculocondylar syndrome 2.82
HP:3000077HP:0007627Mandibular condyle aplasia2PLCB4 CL E G H53329059OMIM:614669Auriculocondylar syndrome 2.82


Genes (3) :EDN1 GNAI3 PLCB4

Diseases (3) :ORPHA:137888 OMIM:602483 OMIM:614669
 

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