Human Phenotype Ontology 
Grandparent Node:
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Abnormality of movement (HP:0100022)help
Parent Node:
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Abnormal tongue physiology (HP:0030810)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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Tongue fasciculations (HP:0001308)help
Term ID: 1308
Name: Tongue fasciculations
Synonym: Lingual fasciculations; Lingual fibrillations; Lingual twitching; Tongue fasciculation; Tongue fasciculations/fibrillations; Tongue twitching; Twitching of the tongue
Definition: Fasciculations or fibrillation affecting the tongue muscle.
Comments:
Reference: HP:0001308
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandFacial-lingual fasciculations (HP:0007089) help
..expandLimb fasciculations (HP:0007289) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001308HP:0001308Tongue fasciculations0AIFM1 CL E G H9131238329ORPHA14878768300169
HP:0001308HP:0001308Tongue fasciculations0ASAH1 CL E G H427159950Jankovic Rivera syndrome159950C1834569OMIM1712735613468
HP:0001308HP:0001308Tongue fasciculations0EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM119017944606489
HP:0001308HP:0001308Tongue fasciculations0NOP56 CL E G H10528276198ORPHA14215911614154
HP:0001308HP:0001308Tongue fasciculations0OPTN CL E G H10133613435Amyotrophic lateral sclerosis type 12613435C3150692OMIM132817142602432
HP:0001308HP:0001308Tongue fasciculations0SH3TC2 CL E G H79628601596Charcot-Marie-Tooth disease, type 4C601596C1866636OMIM1148329427608206
HP:0001308HP:0001308Tongue fasciculations0SLC52A2 CL E G H79581614707Brown-Vialetto-Van Laere syndrome 2614707C3553538OMIM145830224607882
HP:0001308HP:0001308Tongue fasciculations0SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM139916187613350
HP:0001308HP:0001308Tongue fasciculations0SMN1 CL E G H6606253400Kugelberg-Welander disease253400C0152109OMIM120811117600354
HP:0001308HP:0001308Tongue fasciculations0SMN1 CL E G H6606271150Spinal muscular atrophy type 4271150C1838230OMIM120811117600354
HP:0001308HP:0001308Tongue fasciculations0SMN1 CL E G H6606253550Spinal muscular atrophy, type II253550C0393538OMIM120811117600354
HP:0001308HP:0001308Tongue fasciculations0SMN1 CL E G H6606253300Werdnig-Hoffmann disease253300C0043116OMIM120811117600354
HP:0001308HP:0001308Tongue fasciculations0TBCD CL E G H6904617193Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum617193C4310671OMIM144511581604649
HP:0001308HP:0001308Tongue fasciculations0TSPYL1 CL E G H7259608800Sudden infant death with dysgenesis of the testes syndrome608800C1837371OMIM14812382604714
HP:0001308HP:0001308Tongue fasciculations0UBA1 CL E G H7317301830Spinal muscular atrophy, X-linked 2301830C1844934OMIM153112469314370
HP:0001308HP:0001308Tongue fasciculations0VCP CL E G H7415329475ORPHA147312666601023
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001308HP:0001308Tongue fasciculations0NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM04215911614154
HP:0001308HP:0001308Tongue fasciculations0RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM019321176614917


Genes (14) :AIFM1 ASAH1 EXOSC3 NOP56 OPTN RMND1 SH3TC2 SLC52A2 SLC52A3 SMN1 TBCD TSPYL1 UBA1 VCP

Diseases (18) :238329 159950 614678 276198 614153 613435 614922 601596 614707 211530 253400 271150 253550 253300 617193 608800 301830 329475
 

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