Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of movement (HP:0100022)

Parent Node:
Abnormal tongue physiology (HP:0030810)

Parent Node:
Fasciculations (HP:0002380)

Parent Node:
Muscle fibrillation (HP:0010546)

..Starting node
..Tongue fasciculations (HP:0001308)

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:

Facial-lingual fasciculations (HP:0007089)

Limb fasciculations (HP:0007289)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0001308	HP:0001308	Tongue fasciculations	0	AIFM1 CL E G H	9131	238329				ORPHA	1	487	8768	300169
HP:0001308	HP:0001308	Tongue fasciculations	0	ASAH1 CL E G H	427	159950	Jankovic Rivera syndrome	159950	C1834569	OMIM	1	712	735	613468
HP:0001308	HP:0001308	Tongue fasciculations	0	EXOSC3 CL E G H	51010	614678	Pontocerebellar hypoplasia, type 1b	614678	C3553449	OMIM	1	190	17944	606489
HP:0001308	HP:0001308	Tongue fasciculations	0	NOP56 CL E G H	10528	276198				ORPHA	1	42	15911	614154
HP:0001308	HP:0001308	Tongue fasciculations	0	OPTN CL E G H	10133	613435	Amyotrophic lateral sclerosis type 12	613435	C3150692	OMIM	1	328	17142	602432
HP:0001308	HP:0001308	Tongue fasciculations	0	SH3TC2 CL E G H	79628	601596	Charcot-Marie-Tooth disease, type 4C	601596	C1866636	OMIM	1	1483	29427	608206
HP:0001308	HP:0001308	Tongue fasciculations	0	SLC52A2 CL E G H	79581	614707	Brown-Vialetto-Van Laere syndrome 2	614707	C3553538	OMIM	1	458	30224	607882
HP:0001308	HP:0001308	Tongue fasciculations	0	SLC52A3 CL E G H	113278	211530	Brown-Vialetto-Van Laere syndrome 1	211530	CN029849	OMIM	1	399	16187	613350
HP:0001308	HP:0001308	Tongue fasciculations	0	SMN1 CL E G H	6606	253400	Kugelberg-Welander disease	253400	C0152109	OMIM	1	208	11117	600354
HP:0001308	HP:0001308	Tongue fasciculations	0	SMN1 CL E G H	6606	271150	Spinal muscular atrophy type 4	271150	C1838230	OMIM	1	208	11117	600354
HP:0001308	HP:0001308	Tongue fasciculations	0	SMN1 CL E G H	6606	253550	Spinal muscular atrophy, type II	253550	C0393538	OMIM	1	208	11117	600354
HP:0001308	HP:0001308	Tongue fasciculations	0	SMN1 CL E G H	6606	253300	Werdnig-Hoffmann disease	253300	C0043116	OMIM	1	208	11117	600354
HP:0001308	HP:0001308	Tongue fasciculations	0	TBCD CL E G H	6904	617193	Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum	617193	C4310671	OMIM	1	445	11581	604649
HP:0001308	HP:0001308	Tongue fasciculations	0	TSPYL1 CL E G H	7259	608800	Sudden infant death with dysgenesis of the testes syndrome	608800	C1837371	OMIM	1	48	12382	604714
HP:0001308	HP:0001308	Tongue fasciculations	0	UBA1 CL E G H	7317	301830	Spinal muscular atrophy, X-linked 2	301830	C1844934	OMIM	1	531	12469	314370
HP:0001308	HP:0001308	Tongue fasciculations	0	VCP CL E G H	7415	329475				ORPHA	1	473	12666	601023
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001308	HP:0001308	Tongue fasciculations	0	NOP56 CL E G H	10528	614153	Spinocerebellar ataxia 36	614153	C3472711	OMIM	0	42	15911	614154
HP:0001308	HP:0001308	Tongue fasciculations	0	RMND1 CL E G H	55005	614922	Combined oxidative phosphorylation deficiency 11	614922	C3554067	OMIM	0	193	21176	614917

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.

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