MYOTONIA, POTASSIUM-AGGRAVATED

MYOTONIA CONGENITA, ACETAZOLAMIDE-RESPONSIVE

http://purl.bioontology.org/ontology/OMIM/608390

MYOTONIA CONGENITA, ACETAZOLAMIDE-RESPONSIVE

SODIUM CHANNEL MUSCLE DISEASE

MYOTONIA CONGENITA, ATYPICAL

SNEL

MYOTONIA PERMANENS

LARYNGOSPASM, SEVERE NEONATAL EPISODIC

MYOTONIA FLUCTUANS

C3149517

C0752355

C2931826

17q23.1-q25.3

CMS16

SCN4A

HOKPP2

HYPP

NAC1A

http://purl.bioontology.org/ontology/OMIM/MTHU004173

http://purl.bioontology.org/ontology/OMIM/MTHU029749

http://purl.bioontology.org/ontology/OMIM/MTHU029750

http://purl.bioontology.org/ontology/OMIM/MTHU002238

http://purl.bioontology.org/ontology/OMIM/MTHU025283

http://purl.bioontology.org/ontology/OMIM/MTHU002243

http://purl.bioontology.org/ontology/OMIM/MTHU020224

http://purl.bioontology.org/ontology/OMIM/MTHU005259

http://purl.bioontology.org/ontology/OMIM/MTHU038878

http://purl.bioontology.org/ontology/OMIM/MTHU010824

http://purl.bioontology.org/ontology/OMIM/MTHU027370

http://purl.bioontology.org/ontology/OMIM/MTHU020225

http://purl.bioontology.org/ontology/OMIM/MTHU020223

http://purl.bioontology.org/ontology/OMIM/MTHU038879

http://purl.bioontology.org/ontology/OMIM/MTHU037278

http://purl.bioontology.org/ontology/OMIM/MTHU027357

Phenotype description, molecular basis known.

608390

3

pound

MYOTONIA, POTASSIUM-AGGRAVATED

T047