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 the tongue (HP:0000157)

Parent Node:
Abnormal tongue physiology (HP:0030810)

..Starting node
..Movement abnormality of the tongue (HP:0000182)

Term ID:

182

Name:

Movement abnormality of the tongue

Synonym:

Abnormality of lingual movement; Movement abnormality of the tongue

Definition:

Comments:

Reference:

HP:0000182

Genes and Diseases:

Child Nodes:

........

Difficulty in tongue movements (HP:0000183)

Sister Nodes:

Abnormality of taste sensation (HP:0000223)

Tongue fasciculations (HP:0001308)

Tongue pain (HP:0030811)

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:0000182	HP:0000182	Movement abnormality of the tongue	0	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile		114
HP:0000182	HP:0000182	Movement abnormality of the tongue	0	ALS2 CL E G H	57679	443	OMIM:606353	Primary lateral sclerosis, juvenile		114
HP:0000182	HP:0000182	Movement abnormality of the tongue	0	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome		100
HP:0000182	HP:0000182	Movement abnormality of the tongue	0	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome		6
HP:0000182	HP:0000182	Movement abnormality of the tongue	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome		353
HP:0000182	HP:0000182	Movement abnormality of the tongue	0	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset		407
HP:0000182	HP:0000182	Movement abnormality of the tongue	0	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy
HP:0000182	HP:0000182	Movement abnormality of the tongue	0	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome		2
HP:0000182	HP:0000182	Movement abnormality of the tongue	0	MTPAP CL E G H	55149	25532	ORPHA:254343	Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome	HP:0040282 - Frequent	19
HP:0000182	HP:0000182	Movement abnormality of the tongue	0	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy
HP:0000182	HP:0000182	Movement abnormality of the tongue	0	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome		82
HP:0000182	HP:0000182	Movement abnormality of the tongue	0	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2		180
HP:0000182	HP:0000182	Movement abnormality of the tongue	0	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C		493
HP:0000182	HP:0000182	Movement abnormality of the tongue	0	TUBB4A CL E G H	10382	20774	ORPHA:98805	Primary dystonia, DYT4 type	HP:0040282 - Frequent	66
HP:0000182	HP:0000183	Difficulty in tongue movements	1	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile	.	114
HP:0000182	HP:0000183	Difficulty in tongue movements	1	ALS2 CL E G H	57679	443	OMIM:606353	Primary lateral sclerosis, juvenile	.	114
HP:0000182	HP:0000183	Difficulty in tongue movements	1	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome	HP:0040282 - Frequent	100
HP:0000182	HP:0000183	Difficulty in tongue movements	1	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent	6
HP:0000182	HP:0000183	Difficulty in tongue movements	1	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.	353
HP:0000182	HP:0000183	Difficulty in tongue movements	1	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset	HP:0040282 - Frequent	407
HP:0000182	HP:0000183	Difficulty in tongue movements	1	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040282 - Frequent
HP:0000182	HP:0000183	Difficulty in tongue movements	1	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent	2
HP:0000182	HP:0000183	Difficulty in tongue movements	1	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040282 - Frequent
HP:0000182	HP:0000183	Difficulty in tongue movements	1	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent	82
HP:0000182	HP:0000183	Difficulty in tongue movements	1	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2		180
HP:0000182	HP:0000183	Difficulty in tongue movements	1	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C	HP:0040283 - Occasional	493

Genes (13) :ALS2 ATP13A2 EDN1 FRAS1 GAA GIPC1 GNAI3 MTPAP NOTCH2NLC PLCB4 SBF2 SH3TC2 TUBB4A

Diseases (11) :OMIM:205100 OMIM:606353 ORPHA:306674 ORPHA:137888 OMIM:219000 ORPHA:308552 ORPHA:98897 ORPHA:254343 ORPHA:99956 ORPHA:99949 ORPHA:98805

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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