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:
Dysmetria (HP:0001310)

Parent Node:
Limb dysmetria (HP:0002406)

..Starting node
..Upper limb dysmetria (HP:0020036)

Term ID:

20036

Name:

Upper limb dysmetria

Synonym:

Definition:

A lack of coordination of arm movement manifested by undershoot or overshoot of the intended position of the arm.

Comments:

Reference:

HP:0020036

Genes and Diseases:

Child Nodes:

Sister Nodes:

Lower limb dysmetria (HP:0020035)

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:0020036	HP:0020036	Upper limb dysmetria	0	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive	.	30

Genes (1) :GBA2

Diseases (1) :OMIM:614409

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