Human Phenotype Ontology 
Grandparent Node:
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Abnormality of movement (HP:0100022)help
Parent Node:
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Fasciculations (HP:0002380)help
Parent Node:
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Muscle fibrillation (HP:0010546)help
..Starting node
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Facial-lingual fasciculations (HP:0007089)help
Term ID: 7089
Name: Facial-lingual fasciculations
Synonym:
Definition: Fasciculations affecting the tongue muscle and the musculature of the face.
Comments:
Reference: HP:0007089
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandLimb fasciculations (HP:0007289) help
..expandTongue fasciculations (HP:0001308) 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:0007089HP:0007089Facial-lingual fasciculations0ATXN3 CL E G H42877106OMIM:109150Machado-Joseph disease.14
HP:0007089HP:0007089Facial-lingual fasciculations0ATXN3 CL E G H42877106ORPHA:276238Machado-Joseph disease type 1HP:0040282 - Frequent14
HP:0007089HP:0007089Facial-lingual fasciculations0ATXN3 CL E G H42877106ORPHA:276241Machado-Joseph disease type 2HP:0040282 - Frequent14
HP:0007089HP:0007089Facial-lingual fasciculations0ATXN3 CL E G H42877106ORPHA:276244Machado-Joseph disease type 3HP:0040282 - Frequent14
HP:0007089HP:0032507Labiomental fasciculations1 CL E G H


Genes (1) :ATXN3

Diseases (4) :OMIM:109150 ORPHA:276238 ORPHA:276241 ORPHA:276244
 

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