Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
Abnormal oral cavity morphology (HP:0000163)

Parent Node:
Abnormality of the tongue (HP:0000157)

..Starting node
..Abnormal tongue physiology (HP:0030810)

Term ID:

30810

Name:

Abnormal tongue physiology

Synonym:

Definition:

Any functional anomaly of the tongue.

Comments:

Reference:

HP:0030810

Genes and Diseases:

Child Nodes:

........

Movement abnormality of the tongue (HP:0000182)

................... HP:0000183 Difficulty in tongue movements

........

Abnormality of taste sensation (HP:0000223)

................... HP:0000224 Decreased taste sensation
................... HP:0031249 Parageusia

........

Tongue fasciculations (HP:0001308)

........

Tongue pain (HP:0030811)

Sister Nodes:

Abnormal tongue morphology (HP:0030809)

Neoplasm of the tongue (HP:0100648)

Tongue edema (HP:0040315)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030810	HP:0030810	Abnormal tongue physiology	0	ADPRS CL E G H	54936	21304	OMIM:618170	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
HP:0030810	HP:0030810	Abnormal tongue physiology	0	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy		1
HP:0030810	HP:0030810	Abnormal tongue physiology	0	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1		1
HP:0030810	HP:0030810	Abnormal tongue physiology	0	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6		60
HP:0030810	HP:0030810	Abnormal tongue physiology	0	AIFM1 CL E G H	9131	8768	ORPHA:238329	Severe X-linked mitochondrial encephalomyopathy		60
HP:0030810	HP:0030810	Abnormal tongue physiology	0	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile		114
HP:0030810	HP:0030810	Abnormal tongue physiology	0	ALS2 CL E G H	57679	443	OMIM:606353	Primary lateral sclerosis, juvenile		114
HP:0030810	HP:0030810	Abnormal tongue physiology	0	ASAH1 CL E G H	427	735	OMIM:159950	Spinal muscular atrophy with progressive myoclonic epilepsy		78
HP:0030810	HP:0030810	Abnormal tongue physiology	0	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0030810	HP:0030810	Abnormal tongue physiology	0	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome		100
HP:0030810	HP:0030810	Abnormal tongue physiology	0	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine		239
HP:0030810	HP:0030810	Abnormal tongue physiology	0	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine		449
HP:0030810	HP:0030810	Abnormal tongue physiology	0	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset		11
HP:0030810	HP:0030810	Abnormal tongue physiology	0	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome		6
HP:0030810	HP:0030810	Abnormal tongue physiology	0	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		58
HP:0030810	HP:0030810	Abnormal tongue physiology	0	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III		133
HP:0030810	HP:0030810	Abnormal tongue physiology	0	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1		38
HP:0030810	HP:0030810	Abnormal tongue physiology	0	EXOSC3 CL E G H	51010	17944	OMIM:614678	Pontocerebellar hypoplasia, type 1B		38
HP:0030810	HP:0030810	Abnormal tongue physiology	0	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1		4
HP:0030810	HP:0030810	Abnormal tongue physiology	0	EXOSC8 CL E G H	11340	17035	OMIM:616081	Pontocerebellar hypoplasia, type 1C		4
HP:0030810	HP:0030810	Abnormal tongue physiology	0	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0030810	HP:0030810	Abnormal tongue physiology	0	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0030810	HP:0030810	Abnormal tongue physiology	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome		353
HP:0030810	HP:0030810	Abnormal tongue physiology	0	FXR1 CL E G H	8087	4023	OMIM:618823	MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0030810	HP:0030810	Abnormal tongue physiology	0	FXR1 CL E G H	8087	4023	OMIM:618822	MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0030810	HP:0030810	Abnormal tongue physiology	0	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset		407
HP:0030810	HP:0030810	Abnormal tongue physiology	0	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy
HP:0030810	HP:0030810	Abnormal tongue physiology	0	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome		2
HP:0030810	HP:0030810	Abnormal tongue physiology	0	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type		4
HP:0030810	HP:0030810	Abnormal tongue physiology	0	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		276
HP:0030810	HP:0030810	Abnormal tongue physiology	0	LGI3 CL E G H	203190	18711	OMIM:620007
HP:0030810	HP:0030810	Abnormal tongue physiology	0	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset		158
HP:0030810	HP:0030810	Abnormal tongue physiology	0	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		134
HP:0030810	HP:0030810	Abnormal tongue physiology	0	MTPAP CL E G H	55149	25532	ORPHA:254343	Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome		19
HP:0030810	HP:0030810	Abnormal tongue physiology	0	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1		27
HP:0030810	HP:0030810	Abnormal tongue physiology	0	NOP56 CL E G H	10528	15911	OMIM:614153	Spinocerebellar ataxia 36		9
HP:0030810	HP:0030810	Abnormal tongue physiology	0	NOP56 CL E G H	10528	15911	ORPHA:276198	Spinocerebellar ataxia type 36		9
HP:0030810	HP:0030810	Abnormal tongue physiology	0	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy
HP:0030810	HP:0030810	Abnormal tongue physiology	0	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4		97
HP:0030810	HP:0030810	Abnormal tongue physiology	0	OPTN CL E G H	10133	17142	OMIM:613435	Amyotrophic lateral sclerosis 12		62
HP:0030810	HP:0030810	Abnormal tongue physiology	0	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome		82
HP:0030810	HP:0030810	Abnormal tongue physiology	0	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		79
HP:0030810	HP:0030810	Abnormal tongue physiology	0	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine		94
HP:0030810	HP:0030810	Abnormal tongue physiology	0	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome		8
HP:0030810	HP:0030810	Abnormal tongue physiology	0	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		170
HP:0030810	HP:0030810	Abnormal tongue physiology	0	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		54
HP:0030810	HP:0030810	Abnormal tongue physiology	0	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11		26
HP:0030810	HP:0030810	Abnormal tongue physiology	0	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2		180
HP:0030810	HP:0030810	Abnormal tongue physiology	0	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine		1053
HP:0030810	HP:0030810	Abnormal tongue physiology	0	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		318
HP:0030810	HP:0030810	Abnormal tongue physiology	0	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C		493
HP:0030810	HP:0030810	Abnormal tongue physiology	0	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C		493
HP:0030810	HP:0030810	Abnormal tongue physiology	0	SLC25A21 CL E G H	89874	14411	OMIM:618811	MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0030810	HP:0030810	Abnormal tongue physiology	0	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1		14
HP:0030810	HP:0030810	Abnormal tongue physiology	0	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type		55
HP:0030810	HP:0030810	Abnormal tongue physiology	0	SLC52A2 CL E G H	79581	30224	OMIM:614707	Brown-Vialetto-Van laere syndrome 2		47
HP:0030810	HP:0030810	Abnormal tongue physiology	0	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1		51
HP:0030810	HP:0030810	Abnormal tongue physiology	0	SMN1 CL E G H	6606	11117	OMIM:253300	Spinal muscular atrophy, type I		22
HP:0030810	HP:0030810	Abnormal tongue physiology	0	SMN1 CL E G H	6606	11117	OMIM:253550	Spinal muscular atrophy, type II		22
HP:0030810	HP:0030810	Abnormal tongue physiology	0	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III		22
HP:0030810	HP:0030810	Abnormal tongue physiology	0	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV		22
HP:0030810	HP:0030810	Abnormal tongue physiology	0	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III		1
HP:0030810	HP:0030810	Abnormal tongue physiology	0	SPTLC1 CL E G H	10558	11277	OMIM:162400	Neuropathy, hereditary sensory and autonomic, type IA		54
HP:0030810	HP:0030810	Abnormal tongue physiology	0	SYNGAP1 CL E G H	8831	11497	ORPHA:544254	SYNGAP1-related developmental and epileptic encephalopathy	HP:0040283 - Occasional	108
HP:0030810	HP:0030810	Abnormal tongue physiology	0	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B		4
HP:0030810	HP:0030810	Abnormal tongue physiology	0	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT		16
HP:0030810	HP:0030810	Abnormal tongue physiology	0	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7		6
HP:0030810	HP:0030810	Abnormal tongue physiology	0	TSPYL1 CL E G H	7259	12382	OMIM:608800	Sudden infant death with dysgenesis of the testes syndrome		1
HP:0030810	HP:0030810	Abnormal tongue physiology	0	TUBB4A CL E G H	10382	20774	ORPHA:98805	Primary dystonia, DYT4 type		66
HP:0030810	HP:0030810	Abnormal tongue physiology	0	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy		35
HP:0030810	HP:0030810	Abnormal tongue physiology	0	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2		35
HP:0030810	HP:0030810	Abnormal tongue physiology	0	VCP CL E G H	7415	12666	ORPHA:329475	Spastic paraplegia-Paget disease of bone syndrome		63
HP:0030810	HP:0030810	Abnormal tongue physiology	0	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1		32
HP:0030810	HP:0030810	Abnormal tongue physiology	0	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A		32
HP:0030810	HP:0030810	Abnormal tongue physiology	0	VWA1 CL E G H	64856	30910	OMIM:619216	NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0030810	HP:0030810	Abnormal tongue physiology	0	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		199
HP:0030810	HP:0001308	Tongue fasciculations	1	ADPRS CL E G H	54936	21304	OMIM:618170	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	.
HP:0030810	HP:0001308	Tongue fasciculations	1	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy	HP:0040284 - Very rare	1
HP:0030810	HP:0001308	Tongue fasciculations	1	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1		1
HP:0030810	HP:0001308	Tongue fasciculations	1	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6		60
HP:0030810	HP:0001308	Tongue fasciculations	1	AIFM1 CL E G H	9131	8768	ORPHA:238329	Severe X-linked mitochondrial encephalomyopathy	HP:0040282 - Frequent	60
HP:0030810	HP:0000182	Movement abnormality of the tongue	1	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile		114
HP:0030810	HP:0000182	Movement abnormality of the tongue	1	ALS2 CL E G H	57679	443	OMIM:606353	Primary lateral sclerosis, juvenile		114
HP:0030810	HP:0001308	Tongue fasciculations	1	ASAH1 CL E G H	427	735	OMIM:159950	Spinal muscular atrophy with progressive myoclonic epilepsy	.	78
HP:0030810	HP:0001308	Tongue fasciculations	1	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0030810	HP:0000182	Movement abnormality of the tongue	1	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome		100
HP:0030810	HP:0001308	Tongue fasciculations	1	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	239
HP:0030810	HP:0001308	Tongue fasciculations	1	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	449
HP:0030810	HP:0001308	Tongue fasciculations	1	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset	HP:0040283 - Occasional	11
HP:0030810	HP:0000182	Movement abnormality of the tongue	1	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome		6
HP:0030810	HP:0001308	Tongue fasciculations	1	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		58
HP:0030810	HP:0000223	Abnormality of taste sensation	1	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III		133
HP:0030810	HP:0001308	Tongue fasciculations	1	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1		38
HP:0030810	HP:0001308	Tongue fasciculations	1	EXOSC3 CL E G H	51010	17944	OMIM:614678	Pontocerebellar hypoplasia, type 1B	.	38
HP:0030810	HP:0001308	Tongue fasciculations	1	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1		4
HP:0030810	HP:0001308	Tongue fasciculations	1	EXOSC8 CL E G H	11340	17035	OMIM:616081	Pontocerebellar hypoplasia, type 1C		4
HP:0030810	HP:0001308	Tongue fasciculations	1	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0030810	HP:0001308	Tongue fasciculations	1	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0030810	HP:0000182	Movement abnormality of the tongue	1	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome		353
HP:0030810	HP:0001308	Tongue fasciculations	1	FXR1 CL E G H	8087	4023	OMIM:618823	MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0030810	HP:0001308	Tongue fasciculations	1	FXR1 CL E G H	8087	4023	OMIM:618822	MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0030810	HP:0000182	Movement abnormality of the tongue	1	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset		407
HP:0030810	HP:0000182	Movement abnormality of the tongue	1	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy
HP:0030810	HP:0000182	Movement abnormality of the tongue	1	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome		2
HP:0030810	HP:0001308	Tongue fasciculations	1	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type	HP:0040283 - Occasional	4
HP:0030810	HP:0000223	Abnormality of taste sensation	1	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		276
HP:0030810	HP:0001308	Tongue fasciculations	1	LGI3 CL E G H	203190	18711	OMIM:620007
HP:0030810	HP:0001308	Tongue fasciculations	1	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset		158
HP:0030810	HP:0001308	Tongue fasciculations	1	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		134
HP:0030810	HP:0000182	Movement abnormality of the tongue	1	MTPAP CL E G H	55149	25532	ORPHA:254343	Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome	HP:0040282 - Frequent	19
HP:0030810	HP:0001308	Tongue fasciculations	1	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1		27
HP:0030810	HP:0001308	Tongue fasciculations	1	NOP56 CL E G H	10528	15911	OMIM:614153	Spinocerebellar ataxia 36		9
HP:0030810	HP:0001308	Tongue fasciculations	1	NOP56 CL E G H	10528	15911	ORPHA:276198	Spinocerebellar ataxia type 36	HP:0040282 - Frequent	9
HP:0030810	HP:0000182	Movement abnormality of the tongue	1	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy
HP:0030810	HP:0030811	Tongue pain	1	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4	HP:0040283 - Occasional	97
HP:0030810	HP:0001308	Tongue fasciculations	1	OPTN CL E G H	10133	17142	OMIM:613435	Amyotrophic lateral sclerosis 12	.	62
HP:0030810	HP:0000182	Movement abnormality of the tongue	1	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome		82
HP:0030810	HP:0001308	Tongue fasciculations	1	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		79
HP:0030810	HP:0001308	Tongue fasciculations	1	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	94
HP:0030810	HP:0001308	Tongue fasciculations	1	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome		8
HP:0030810	HP:0001308	Tongue fasciculations	1	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		170
HP:0030810	HP:0000223	Abnormality of taste sensation	1	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		54
HP:0030810	HP:0001308	Tongue fasciculations	1	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11	HP:0040283 - Occasional	26
HP:0030810	HP:0000182	Movement abnormality of the tongue	1	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2		180
HP:0030810	HP:0001308	Tongue fasciculations	1	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	1053
HP:0030810	HP:0000223	Abnormality of taste sensation	1	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		318
HP:0030810	HP:0001308	Tongue fasciculations	1	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C	HP:0040283 - Occasional	493
HP:0030810	HP:0000182	Movement abnormality of the tongue	1	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C		493
HP:0030810	HP:0001308	Tongue fasciculations	1	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C	.	493
HP:0030810	HP:0001308	Tongue fasciculations	1	SLC25A21 CL E G H	89874	14411	OMIM:618811	MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0030810	HP:0001308	Tongue fasciculations	1	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1		14
HP:0030810	HP:0000223	Abnormality of taste sensation	1	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type		55
HP:0030810	HP:0001308	Tongue fasciculations	1	SLC52A2 CL E G H	79581	30224	OMIM:614707	Brown-Vialetto-Van laere syndrome 2	.	47
HP:0030810	HP:0001308	Tongue fasciculations	1	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1	.	51
HP:0030810	HP:0001308	Tongue fasciculations	1	SMN1 CL E G H	6606	11117	OMIM:253300	Spinal muscular atrophy, type I	.	22
HP:0030810	HP:0001308	Tongue fasciculations	1	SMN1 CL E G H	6606	11117	OMIM:253550	Spinal muscular atrophy, type II	.	22
HP:0030810	HP:0001308	Tongue fasciculations	1	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III	.	22
HP:0030810	HP:0001308	Tongue fasciculations	1	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV	.	22
HP:0030810	HP:0001308	Tongue fasciculations	1	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III	.	1
HP:0030810	HP:0001308	Tongue fasciculations	1	SPTLC1 CL E G H	10558	11277	OMIM:162400	Neuropathy, hereditary sensory and autonomic, type IA		54
HP:0030810	HP:0001308	Tongue fasciculations	1	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B		4
HP:0030810	HP:0001308	Tongue fasciculations	1	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT		16
HP:0030810	HP:0001308	Tongue fasciculations	1	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7		6
HP:0030810	HP:0001308	Tongue fasciculations	1	TSPYL1 CL E G H	7259	12382	OMIM:608800	Sudden infant death with dysgenesis of the testes syndrome	.	1
HP:0030810	HP:0000182	Movement abnormality of the tongue	1	TUBB4A CL E G H	10382	20774	ORPHA:98805	Primary dystonia, DYT4 type	HP:0040282 - Frequent	66
HP:0030810	HP:0001308	Tongue fasciculations	1	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy	HP:0040283 - Occasional	35
HP:0030810	HP:0001308	Tongue fasciculations	1	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2	.	35
HP:0030810	HP:0001308	Tongue fasciculations	1	VCP CL E G H	7415	12666	ORPHA:329475	Spastic paraplegia-Paget disease of bone syndrome	HP:0040282 - Frequent	63
HP:0030810	HP:0001308	Tongue fasciculations	1	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1		32
HP:0030810	HP:0001308	Tongue fasciculations	1	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A		32
HP:0030810	HP:0001308	Tongue fasciculations	1	VWA1 CL E G H	64856	30910	OMIM:619216	NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0030810	HP:0000223	Abnormality of taste sensation	1	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		199
HP:0030810	HP:0041051	Ageusia	2	CL E G H
HP:0030810	HP:0033847	Phantageusia	2	CL E G H
HP:0030810	HP:0031249	Parageusia	2	CL E G H
HP:0030810	HP:0000183	Difficulty in tongue movements	2	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile	.	114
HP:0030810	HP:0000183	Difficulty in tongue movements	2	ALS2 CL E G H	57679	443	OMIM:606353	Primary lateral sclerosis, juvenile	.	114
HP:0030810	HP:0000183	Difficulty in tongue movements	2	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome	HP:0040282 - Frequent	100
HP:0030810	HP:0000183	Difficulty in tongue movements	2	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent	6
HP:0030810	HP:0000224	Hypogeusia	2	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III	.	133
HP:0030810	HP:0000183	Difficulty in tongue movements	2	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.	353
HP:0030810	HP:0000183	Difficulty in tongue movements	2	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset	HP:0040282 - Frequent	407
HP:0030810	HP:0000183	Difficulty in tongue movements	2	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040282 - Frequent
HP:0030810	HP:0000183	Difficulty in tongue movements	2	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent	2
HP:0030810	HP:0000224	Hypogeusia	2	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	276
HP:0030810	HP:0000183	Difficulty in tongue movements	2	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040282 - Frequent
HP:0030810	HP:0000183	Difficulty in tongue movements	2	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent	82
HP:0030810	HP:0000224	Hypogeusia	2	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	54
HP:0030810	HP:0000183	Difficulty in tongue movements	2	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2		180
HP:0030810	HP:0000224	Hypogeusia	2	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	318
HP:0030810	HP:0000183	Difficulty in tongue movements	2	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C	HP:0040283 - Occasional	493
HP:0030810	HP:0000224	Hypogeusia	2	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type	.	55
HP:0030810	HP:0000224	Hypogeusia	2	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	199

Genes (62) :ADPRS AGTPBP1 AIFM1 ALS2 ASAH1 ATP11A ATP13A2 ATP1A2 CACNA1A CHCHD10 EDN1 EGR2 ELP1 EXOSC3 EXOSC8 EXOSC9 FRAS1 FXR1 GAA GIPC1 GNAI3 KCNK9 KIF1A LGI3 MEGF10 MPZ MTPAP NDUFS4 NOP56 NOTCH2NLC NTRK1 OPTN PLCB4 PMP22 PRRT2 PRUNE1 PRX RETREG1 RMND1 SBF2 SCN1A SCN9A SH3TC2 SLC25A21 SLC25A46 SLC39A4 SLC52A2 SLC52A3 SMN1 SMN2 SPTLC1 SYNGAP1 SYT2 TBCD TOE1 TSPYL1 TUBB4A UBA1 VCP VRK1 VWA1 WNK1

Diseases (58) :OMIM:618170 OMIM:618276 ORPHA:2254 OMIM:300816 ORPHA:238329 OMIM:205100 OMIM:606353 OMIM:159950 OMIM:619851 ORPHA:306674 ORPHA:569 ORPHA:276435 ORPHA:137888 OMIM:145900 OMIM:223900 OMIM:614678 OMIM:616081 OMIM:618065 OMIM:219000 OMIM:618823 OMIM:618822 ORPHA:308552 ORPHA:98897 ORPHA:166108 OMIM:201300 OMIM:620007 OMIM:614399 ORPHA:254343 OMIM:252010 OMIM:614153 ORPHA:276198 ORPHA:642 OMIM:613435 ORPHA:544469 OMIM:614922 ORPHA:99956 ORPHA:99949 OMIM:601596 OMIM:618811 OMIM:201100 OMIM:614707 OMIM:211530 OMIM:253300 OMIM:253550 OMIM:253400 OMIM:271150 OMIM:162400 ORPHA:544254 OMIM:619461 OMIM:617193 OMIM:614969 OMIM:608800 ORPHA:98805 ORPHA:1145 OMIM:301830 ORPHA:329475 OMIM:607596 OMIM:619216

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

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