Human Phenotype Ontology 
Grandparent Node:
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Abnormality of movement (HP:0100022)help
Parent Node:
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Abnormality of limbs (HP:0040064)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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Limb fasciculations (HP:0007289)help
Term ID: 7289
Name: Limb fasciculations
Synonym: Limb fasciculation
Definition: Fasciculations affecting the musculature of the arms and legs.
Comments:
Reference: HP:0007289
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandFacial-lingual fasciculations (HP:0007089) help
..expandTongue fasciculations (HP:0001308) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0007289HP:0007289Limb fasciculations0HINT1 CL E G H3094324442ORPHA11144912601314
HP:0007289HP:0007289Limb fasciculations0HINT1 CL E G H3094324442ORPHA11254912601314
HP:0007289HP:0007289Limb fasciculations0HSPB1 CL E G H331599940ORPHA12995246602195
HP:0007289HP:0007289Limb fasciculations0HSPB1 CL E G H331599940ORPHA12725246602195
HP:0007289HP:0007289Limb fasciculations0SMN1 CL E G H6606253400Kugelberg-Welander disease253400C0152109OMIM120111117600354
HP:0007289HP:0007289Limb fasciculations0SMN1 CL E G H6606253400Kugelberg-Welander disease253400C0152109OMIM120311117600354
HP:0007289HP:0007289Limb fasciculations0VCP CL E G H7415329475ORPHA139512666601023
HP:0007289HP:0007289Limb fasciculations0VCP CL E G H7415329475ORPHA135612666601023
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (4) :HINT1 HSPB1 SMN1 VCP

Diseases (4) :324442 99940 253400 329475
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.