Human Phenotype Ontology 
Grandparent Node:
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Abnormal oral morphology (HP:0031816)help
Parent Node:
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Abnormal mandible morphology (HP:0000277)help
Parent Node:
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Abnormal oral cavity morphology (HP:0000163)help
..Starting node
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Abnormal mandibular ramus morphology (HP:3000003)help
Term ID: 3000003
Name: Abnormal mandibular ramus morphology
Synonym: Abnormality of mandibular ramus
Definition: An abnormality of a mandibular ramus.
Comments:
Reference: HP:3000003
Genes and Diseases:
 
       Child Nodes:
........expandShort mandibular rami (HP:0003778) help
................... HP:0005790 Short mandibular condyles

 Sister Nodes: 
..expandAbnormal lip morphology (HP:0000159) help
..expandAbnormal mouth floor morphology (HP:0410012) help
..expandAbnormal oral frenulum morphology (HP:0000190) help
..expandAbnormal oral mucosa morphology (HP:0011830) help
..expandAbnormal palate morphology (HP:0000174) help
..expandAbnormal salivary gland morphology (HP:0010286) help
..expandAbnormality of mouth shape (HP:0011338) help
..expandAbnormality of mouth size (HP:0011337) help
..expandAbnormality of the alveolar ridges (HP:0006477) help
..expandAbnormality of the dentition (HP:0000164) help
..expandAbnormality of the tongue (HP:0000157) help
..expandNeoplasm of the oral cavity (HP:0100649) 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:3000003HP:3000003Abnormal mandibular ramus morphology0EDN1 CL E G H19063176ORPHA:137888Auriculocondylar syndrome6
HP:3000003HP:3000003Abnormal mandibular ramus morphology0GNAI3 CL E G H27734387ORPHA:137888Auriculocondylar syndrome2
HP:3000003HP:3000003Abnormal mandibular ramus morphology0GNAI3 CL E G H27734387OMIM:602483Auriculocondylar syndrome 12
HP:3000003HP:3000003Abnormal mandibular ramus morphology0HMX1 CL E G H31665017OMIM:612109Oculoauricular syndrome2
HP:3000003HP:3000003Abnormal mandibular ramus morphology0KCNJ2 CL E G H37596263OMIM:170390Andersen cardiodysrhythmic periodic paralysis193
HP:3000003HP:3000003Abnormal mandibular ramus morphology0NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome40
HP:3000003HP:3000003Abnormal mandibular ramus morphology0PLCB4 CL E G H53329059ORPHA:137888Auriculocondylar syndrome82
HP:3000003HP:3000003Abnormal mandibular ramus morphology0PLCB4 CL E G H53329059OMIM:614669Auriculocondylar syndrome 282
HP:3000003HP:0003778Short mandibular rami1EDN1 CL E G H19063176ORPHA:137888Auriculocondylar syndrome6
HP:3000003HP:0003778Short mandibular rami1GNAI3 CL E G H27734387ORPHA:137888Auriculocondylar syndrome2
HP:3000003HP:0003778Short mandibular rami1GNAI3 CL E G H27734387OMIM:602483Auriculocondylar syndrome 12
HP:3000003HP:0003778Short mandibular rami1HMX1 CL E G H31665017OMIM:612109Oculoauricular syndrome2
HP:3000003HP:0003778Short mandibular rami1KCNJ2 CL E G H37596263OMIM:170390Andersen cardiodysrhythmic periodic paralysis.193
HP:3000003HP:0003778Short mandibular rami1NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome.40
HP:3000003HP:0003778Short mandibular rami1PLCB4 CL E G H53329059ORPHA:137888Auriculocondylar syndrome82
HP:3000003HP:0003778Short mandibular rami1PLCB4 CL E G H53329059OMIM:614669Auriculocondylar syndrome 2.82
HP:3000003HP:0005790Short mandibular condyles2EDN1 CL E G H19063176ORPHA:137888Auriculocondylar syndrome6
HP:3000003HP:0005790Short mandibular condyles2GNAI3 CL E G H27734387ORPHA:137888Auriculocondylar syndrome2
HP:3000003HP:0005790Short mandibular condyles2GNAI3 CL E G H27734387OMIM:602483Auriculocondylar syndrome 12
HP:3000003HP:0005790Short mandibular condyles2PLCB4 CL E G H53329059ORPHA:137888Auriculocondylar syndrome82
HP:3000003HP:0005790Short mandibular condyles2PLCB4 CL E G H53329059OMIM:614669Auriculocondylar syndrome 282
HP:3000003HP:0007628Mandibular condyle hypoplasia3EDN1 CL E G H19063176ORPHA:137888Auriculocondylar syndromeHP:0040281 - Very frequent6
HP:3000003HP:0007627Mandibular condyle aplasia3EDN1 CL E G H19063176ORPHA:137888Auriculocondylar syndromeHP:0040283 - Occasional6
HP:3000003HP:0007627Mandibular condyle aplasia3GNAI3 CL E G H27734387ORPHA:137888Auriculocondylar syndromeHP:0040283 - Occasional2
HP:3000003HP:0007628Mandibular condyle hypoplasia3GNAI3 CL E G H27734387ORPHA:137888Auriculocondylar syndromeHP:0040281 - Very frequent2
HP:3000003HP:0007627Mandibular condyle aplasia3GNAI3 CL E G H27734387OMIM:602483Auriculocondylar syndrome 1.2
HP:3000003HP:0007628Mandibular condyle hypoplasia3GNAI3 CL E G H27734387OMIM:602483Auriculocondylar syndrome 1.2
HP:3000003HP:0007627Mandibular condyle aplasia3PLCB4 CL E G H53329059ORPHA:137888Auriculocondylar syndromeHP:0040283 - Occasional82
HP:3000003HP:0007628Mandibular condyle hypoplasia3PLCB4 CL E G H53329059ORPHA:137888Auriculocondylar syndromeHP:0040281 - Very frequent82
HP:3000003HP:0007627Mandibular condyle aplasia3PLCB4 CL E G H53329059OMIM:614669Auriculocondylar syndrome 2.82
HP:3000003HP:0007628Mandibular condyle hypoplasia3PLCB4 CL E G H53329059OMIM:614669Auriculocondylar syndrome 2.82


Genes (6) :EDN1 GNAI3 HMX1 KCNJ2 NFIX PLCB4

Diseases (6) :ORPHA:137888 OMIM:602483 OMIM:612109 OMIM:170390 OMIM:602535 OMIM:614669
 

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