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
..Lower limb dysmetria (HP:0020035)

Term ID:

20035

Name:

Lower limb dysmetria

Synonym:

Definition:

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

Comments:

Reference:

HP:0020035

Genes and Diseases:

Child Nodes:

Sister Nodes:

Upper limb dysmetria (HP:0020036)

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:0020035	HP:0020035	Lower limb dysmetria	0	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040284 - Very rare	1952

Genes (1) :NF1

Diseases (1) :ORPHA:363700

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