Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of jaw muscles (HP:0045037)help
Parent Node:
expand
Abnormality of masticatory muscle (HP:0410011)help
..Starting node
..expand
Abnormality of masseter muscle (HP:3000005)help
Term ID: 3000005
Name: Abnormality of masseter muscle
Synonym:
Definition: An abnormality of a masseter muscle.
Comments:
Reference: HP:3000005
Genes and Diseases:
 
       Child Nodes:
........expandAtrophy of masseter muscle (HP:0045085) help

 Sister Nodes: 
..expandAbnormality of lateral pterygoid muscle (HP:3000068) help
..expandAbnormality of medial pterygoid muscle (HP:3000006) help
..expandAbnormality of temporalis muscle (HP:3000017) 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:3000005HP:3000005Abnormality of masseter muscle0CACNA1S CL E G H7791397ORPHA:423Malignant hyperthermia of anesthesiaHP:0040283 - Occasional247
HP:3000005HP:3000005Abnormality of masseter muscle0GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathyHP:0040283 - Occasional
HP:3000005HP:3000005Abnormality of masseter muscle0NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathyHP:0040283 - Occasional
HP:3000005HP:3000005Abnormality of masseter muscle0RYR1 CL E G H626110483ORPHA:423Malignant hyperthermia of anesthesiaHP:0040283 - Occasional1200
HP:3000005HP:0045085Atrophy of masseter muscle1 CL E G H


Genes (4) :CACNA1S GIPC1 NOTCH2NLC RYR1

Diseases (2) :ORPHA:423 ORPHA:98897
 

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