Human Phenotype Ontology 
Grandparent Node:
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Abnormal mandibular ramus morphology (HP:3000003)help
Grandparent Node:
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Micrognathia (HP:0000347)help
Parent Node:
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Abnormal mandible condylar process morphology (HP:3000077)help
Parent Node:
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Short mandibular rami (HP:0003778)help
..Starting node
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Short mandibular condyles (HP:0005790)help
Term ID: 5790
Name: Short mandibular condyles
Synonym: Bilateral hypoplasia of condylar process of mandible; Bilateral hypoplasia of mandibular condylar head; Bilateral hypoplasia of mandibular condylar neck; Decreased height of condylar process of mandible; Decreased length of condylar process of mandible; Short condylar head of mandible; Short condylar neck of mandible; Short condylar process of mandible
Definition:
Comments:
Reference: HP:0005790
Genes and Diseases:
 
       Child Nodes:
........expandMandibular condyle aplasia (HP:0007627) help
........expandMandibular condyle hypoplasia (HP:0007628) help

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0005790HP:0005790Short mandibular condyles0EDN1 CL E G H19063176ORPHA:137888Auriculocondylar syndrome6
HP:0005790HP:0005790Short mandibular condyles0GNAI3 CL E G H27734387ORPHA:137888Auriculocondylar syndrome2
HP:0005790HP:0005790Short mandibular condyles0GNAI3 CL E G H27734387OMIM:602483Auriculocondylar syndrome 12
HP:0005790HP:0005790Short mandibular condyles0PLCB4 CL E G H53329059ORPHA:137888Auriculocondylar syndrome82
HP:0005790HP:0005790Short mandibular condyles0PLCB4 CL E G H53329059OMIM:614669Auriculocondylar syndrome 282
HP:0005790HP:0007627Mandibular condyle aplasia1EDN1 CL E G H19063176ORPHA:137888Auriculocondylar syndromeHP:0040283 - Occasional6
HP:0005790HP:0007628Mandibular condyle hypoplasia1EDN1 CL E G H19063176ORPHA:137888Auriculocondylar syndromeHP:0040281 - Very frequent6
HP:0005790HP:0007628Mandibular condyle hypoplasia1GNAI3 CL E G H27734387ORPHA:137888Auriculocondylar syndromeHP:0040281 - Very frequent2
HP:0005790HP:0007627Mandibular condyle aplasia1GNAI3 CL E G H27734387ORPHA:137888Auriculocondylar syndromeHP:0040283 - Occasional2
HP:0005790HP:0007627Mandibular condyle aplasia1GNAI3 CL E G H27734387OMIM:602483Auriculocondylar syndrome 1.2
HP:0005790HP:0007628Mandibular condyle hypoplasia1GNAI3 CL E G H27734387OMIM:602483Auriculocondylar syndrome 1.2
HP:0005790HP:0007627Mandibular condyle aplasia1PLCB4 CL E G H53329059ORPHA:137888Auriculocondylar syndromeHP:0040283 - Occasional82
HP:0005790HP:0007628Mandibular condyle hypoplasia1PLCB4 CL E G H53329059ORPHA:137888Auriculocondylar syndromeHP:0040281 - Very frequent82
HP:0005790HP:0007628Mandibular condyle hypoplasia1PLCB4 CL E G H53329059OMIM:614669Auriculocondylar syndrome 2.82
HP:0005790HP:0007627Mandibular condyle aplasia1PLCB4 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.