Human Phenotype Ontology 
Grandparent Node:
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Hypertonia (HP:0001276)help
Parent Node:
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Abnormality of facial musculature (HP:0000301)help
Parent Node:
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Spasticity (HP:0001257)help
..Starting node
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Spasticity of facial muscles (HP:0002491)help
Term ID: 2491
Name: Spasticity of facial muscles
Synonym: Increased stiffness of facial muscles; Increased tone of facial muscles; Spasticity of the facial muscles
Definition: Spasticity of one or more muscles innervated by the facial nerve.
Comments:
Reference: HP:0002491
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandClasp-knife sign (HP:0031866) help
..expandLower limb spasticity (HP:0002061) help
..expandOpisthotonus (HP:0002179) help
..expandProgressive spasticity (HP:0002191) help
..expandSpastic diplegia (HP:0001264) help
..expandSpastic dysarthria (HP:0002464) help
..expandSpastic gait (HP:0002064) help
..expandSpastic hemiparesis (HP:0011099) help
..expandSpastic tetraparesis (HP:0001285) help
..expandSpastic tetraplegia (HP:0002510) help
..expandSpasticity of pharyngeal muscles (HP:0002501) help
..expandUpper limb spasticity (HP:0006986) 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:0002491HP:0002491Spasticity of facial muscles0ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile.114
HP:0002491HP:0002491Spasticity of facial muscles0ALS2 CL E G H57679443OMIM:606353Primary lateral sclerosis, juvenile.114
HP:0002491HP:0002491Spasticity of facial muscles0SCN4A CL E G H632910591ORPHA:99734Myotonia fluctuansHP:0040282 - Frequent263


Genes (2) :ALS2 SCN4A

Diseases (3) :OMIM:205100 OMIM:606353 ORPHA:99734
 

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