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
..Sleep myoclonus (HP:0012323)

Term ID:

12323

Name:

Sleep myoclonus

Synonym:

Definition:

Myoclonus that occurs during the initial phases of sleep.

Comments:

Reference:

HP:0012323

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)

Palatal tremor (HP:0010530)

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:0012323	HP:0012323	Sleep 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 December 15 2022 release.