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

..Starting node
..Tongue tremor (HP:0031947)

Term ID:

31947

Name:

Tongue tremor

Synonym:

Jerky movements of the tongue

Definition:

An unintentional, oscillating to-and-fro muscle movement affecting the tongue.

Comments:

Reference:

HP:0031947

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0031947	HP:0031947	Tongue tremor	0	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040283 - Occasional	8
HP:0031947	HP:0031947	Tongue tremor	0	MYBPC1 CL E G H	4604	7549	OMIM:618524	MYOPATHY, CONGENITAL, WITH TREMOR; MYOTREM		66
HP:0031947	HP:0031947	Tongue tremor	0	TENM4 CL E G H	26011	29945	OMIM:616736	Tremor, hereditary essential, 5	HP:0040284 - Very rare	5

Genes (3) :MORC2 MYBPC1 TENM4

Diseases (3) :ORPHA:466768 OMIM:618524 OMIM:616736

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