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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007289HP:0007289Limb fasciculations0ATXN10 CL E G H2581410549OMIM:603516Spinocerebellar ataxia 109
HP:0007289HP:0007289Limb fasciculations0HINT1 CL E G H30944912ORPHA:324442Autosomal recessive axonal neuropathy with neuromyotoniaHP:0040282 - Frequent12
HP:0007289HP:0007289Limb fasciculations0HSPB1 CL E G H33155246ORPHA:99940Autosomal dominant Charcot-Marie-Tooth disease type 2FHP:0040281 - Very frequent47
HP:0007289HP:0007289Limb fasciculations0SMN1 CL E G H660611117OMIM:253400Spinal muscular atrophy, type III.22
HP:0007289HP:0007289Limb fasciculations0SMN2 CL E G H660711118OMIM:253400Spinal muscular atrophy, type III.1
HP:0007289HP:0007289Limb fasciculations0TFG CL E G H1034211758ORPHA:90117Hereditary motor and sensory neuropathy, Okinawa typeHP:0040282 - Frequent18
HP:0007289HP:0007289Limb fasciculations0VCP CL E G H741512666ORPHA:329475Spastic paraplegia-Paget disease of bone syndromeHP:0040282 - Frequent63


Genes (7) :ATXN10 HINT1 HSPB1 SMN1 SMN2 TFG VCP

Diseases (6) :OMIM:603516 ORPHA:324442 ORPHA:99940 OMIM:253400 ORPHA:90117 ORPHA:329475
 

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