PARAMYOTONIA CONGENITA OF VON EULENBURG

PARAMYOTONIA CONGENITA WITHOUT COLD PARALYSIS

http://purl.bioontology.org/ontology/OMIM/168300

PARAMYOTONIA CONGENITA WITHOUT COLD PARALYSIS

PARALYSIS PERIODICA PARAMYOTONICA

PMC

C0221055

C1868619

17q23.1-q25.3

CMS16

SCN4A

HOKPP2

HYPP

NAC1A

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

http://purl.bioontology.org/ontology/OMIM/MTHU027355

http://purl.bioontology.org/ontology/OMIM/MTHU026445

http://purl.bioontology.org/ontology/OMIM/MTHU031309

http://purl.bioontology.org/ontology/OMIM/MTHU016384

http://purl.bioontology.org/ontology/OMIM/MTHU031311

http://purl.bioontology.org/ontology/OMIM/MTHU025986

http://purl.bioontology.org/ontology/OMIM/MTHU001560

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

http://purl.bioontology.org/ontology/OMIM/MTHU016378

http://purl.bioontology.org/ontology/OMIM/MTHU026444

http://purl.bioontology.org/ontology/OMIM/MTHU027356

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

http://purl.bioontology.org/ontology/OMIM/MTHU026446

http://purl.bioontology.org/ontology/OMIM/MTHU016383

http://purl.bioontology.org/ontology/OMIM/MTHU016381

http://purl.bioontology.org/ontology/OMIM/MTHU027354

http://purl.bioontology.org/ontology/OMIM/MTHU041421

http://purl.bioontology.org/ontology/OMIM/MTHU000572

http://purl.bioontology.org/ontology/OMIM/MTHU031310

http://purl.bioontology.org/ontology/OMIM/MTHU031312

http://purl.bioontology.org/ontology/OMIM/MTHU016379

http://purl.bioontology.org/ontology/OMIM/MTHU016377

http://purl.bioontology.org/ontology/OMIM/MTHU016382

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

Phenotype description, molecular basis known.

168350

168300

3

pound

PARAMYOTONIA CONGENITA OF VON EULENBURG

T047