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:
Abnormal muscle physiology (HP:0011804)

Parent Node:
Myotonia (HP:0002486)

..Starting node
..Paradoxical myotonia (HP:0011809)

Term ID:

11809

Name:

Paradoxical myotonia

Synonym:

Definition:

A type of myotonia that worsens with repeated muscle contractions.

Comments:

Reference:

HP:0011809

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cold-sensitive myotonia (HP:0012904)

EMG: myotonic runs (HP:0003730)

Handgrip myotonia (HP:0012899)

Myotonia of the face (HP:0012900)

Myotonia of the jaw (HP:0012901)

Myotonia of the lower limb (HP:0012902)

Myotonia of the upper limb (HP:0012903)

Myotonia with warm-up phenomenon (HP:0003740)

Percussion myotonia (HP:0010548)

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:0011809	HP:0011809	Paradoxical myotonia	0	SCN4A CL E G H	6329	10591	ORPHA:684	Paramyotonia congenita of Von Eulenburg	HP:0040282 - Frequent	263
HP:0011809	HP:0011809	Paradoxical myotonia	0	SCN4A CL E G H	6329	10591	OMIM:168300	Paramyotonia congenita of von eulenburg	.	263

Genes (1) :SCN4A

Diseases (2) :ORPHA:684 OMIM:168300

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