Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of muscle size (HP:0030236)help
Grandparent Node:
expand
obsolete Abnormality of skeletal muscles (HP:0040290)help
Parent Node:
expand
Abnormality of facial musculature (HP:0000301)help
Parent Node:
expand
Skeletal muscle hypertrophy (HP:0003712)help
..Starting node
..expand
Facial muscle hypertrophy (HP:0012892)help
Term ID: 12892
Name: Facial muscle hypertrophy
Synonym: Hyperplasia of facial muscles; Increased size of facial muscles; Large facial muscles
Definition: Hypertrophy of one or more muscles innervated by the facial nerve (the seventh cranial nerve).
Comments:
Reference: HP:0012892
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandGeneralized muscle hypertrophy (HP:0003720) help
..expandMacroglossia (HP:0000158) help
..expandMuscle hypertrophy of the lower extremities (HP:0008968) help
..expandNeck muscle hypertrophy (HP:0012893) help
..expandobsolete Marked muscular hypertrophy (HP:0009042) help
..expandParaspinal muscle hypertrophy (HP:0012894) help
..expandScapular muscle hypertrophy (HP:0012895) help
..expandUpper limb muscle hypertrophy (HP:0040265) 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:0012892HP:0012892Facial muscle hypertrophy0SCN4A CL E G H632910591ORPHA:684Paramyotonia congenita of Von EulenburgHP:0040282 - Frequent263


Genes (1) :SCN4A

Diseases (1) :ORPHA:684
 

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