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:
Abnormal tongue physiology (HP:0030810)

Parent Node:
Movement abnormality of the tongue (HP:0000182)

..Starting node
..Difficulty in tongue movements (HP:0000183)

Term ID:

183

Name:

Difficulty in tongue movements

Synonym:

Difficulty in lingual movements; Difficulty in tongue movements; Hypokinesia of the tongue; Lingual hypokinesia

Definition:

Comments:

Reference:

HP:0000183

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0000183	HP:0000183	Difficulty in tongue movements	0	ALS2 CL E G H	57679	205100	Amyotrophic lateral sclerosis type 2	205100	C1859807	OMIM	1	754	443	606352
HP:0000183	HP:0000183	Difficulty in tongue movements	0	ALS2 CL E G H	57679	606353	Juvenile primary lateral sclerosis	606353	C1853396	OMIM	1	754	443	606352
HP:0000183	HP:0000183	Difficulty in tongue movements	0	ATP13A2 CL E G H	23400	306674				ORPHA	1	738	30213	610513
HP:0000183	HP:0000183	Difficulty in tongue movements	0	EDN1 CL E G H	1906	137888				ORPHA	1	52	3176	131240
HP:0000183	HP:0000183	Difficulty in tongue movements	0	FRAS1 CL E G H	80144	219000	Cryptophthalmos syndrome	219000	C0265233	OMIM	1	899	19185	607830
HP:0000183	HP:0000183	Difficulty in tongue movements	0	GNAI3 CL E G H	2773	137888				ORPHA	1	41	4387	139370
HP:0000183	HP:0000183	Difficulty in tongue movements	0	PLCB4 CL E G H	5332	137888				ORPHA	1	225	9059	600810
HP:0000183	HP:0000183	Difficulty in tongue movements	0	VPS13A CL E G H	23230	2388				ORPHA	1	1735	1908	605978
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000183	HP:0000183	Difficulty in tongue movements	0	ERLIN2 CL E G H	11160	209951				ORPHA	0	159	1356	611605

Genes (8) :ALS2 ATP13A2 EDN1 ERLIN2 FRAS1 GNAI3 PLCB4 VPS13A

Diseases (7) :205100 606353 306674 137888 209951 219000 2388

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