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:
Involuntary movements (HP:0004305)

Parent Node:
Myoclonus (HP:0001336)

..Starting node
..Palatal myoclonus (HP:0010530)

Term ID:

10530

Name:

Palatal myoclonus

Synonym:

Definition:

Palatal myoclonus is characterized by myoclonic (rhythmic involuntary jerky) movements of the soft palate.

Comments:

Reference:

HP:0010530

Genes and Diseases:

Child Nodes:

Sister Nodes:

Chin myoclonus (HP:0012462)

Cortical myoclonus (HP:0040148)

Erratic myoclonus (HP:0025357)

Eyelid myoclonus (HP:0025097)

Limb myoclonus (HP:0045084)

Morning myoclonic jerks (HP:0007000)

Myoclonic spasms (HP:0003739)

Sleep myoclonus (HP:0012323)

Spinal myoclonus (HP:0010531)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010530	HP:0010530	Palatal myoclonus	0	CL E G H

Genes (0) :

Diseases (0) :

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