Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE

Synonyms

MYOKYMIA, MYOTONIA, AND MUSCLE WASTING

ID

http://purl.bioontology.org/ontology/OMIM/137200

altLabel

MYOKYMIA, MYOTONIA, AND MUSCLE WASTING

GAMSTORP-WOHLFART SYNDROME

NMAN

cui

C0242287

Gene Locus

5q31.2

Gene Symbol

PRKCNH1

NMAN

HINT1

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU003514

http://purl.bioontology.org/ontology/OMIM/MTHU036767

http://purl.bioontology.org/ontology/OMIM/MTHU001831

http://purl.bioontology.org/ontology/OMIM/MTHU036774

http://purl.bioontology.org/ontology/OMIM/MTHU036779

http://purl.bioontology.org/ontology/OMIM/MTHU036766

http://purl.bioontology.org/ontology/OMIM/MTHU036769

http://purl.bioontology.org/ontology/OMIM/MTHU001005

http://purl.bioontology.org/ontology/OMIM/MTHU036776

http://purl.bioontology.org/ontology/OMIM/MTHU003967

http://purl.bioontology.org/ontology/OMIM/MTHU000660

http://purl.bioontology.org/ontology/OMIM/MTHU036772

http://purl.bioontology.org/ontology/OMIM/MTHU036770

http://purl.bioontology.org/ontology/OMIM/MTHU001017

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

http://purl.bioontology.org/ontology/OMIM/MTHU002773

http://purl.bioontology.org/ontology/OMIM/MTHU036768

http://purl.bioontology.org/ontology/OMIM/MTHU020211

http://purl.bioontology.org/ontology/OMIM/MTHU036771

http://purl.bioontology.org/ontology/OMIM/MTHU036777

http://purl.bioontology.org/ontology/OMIM/MTHU036775

http://purl.bioontology.org/ontology/OMIM/MTHU036773

http://purl.bioontology.org/ontology/OMIM/MTHU036778

http://purl.bioontology.org/ontology/OMIM/MTHU000440

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

137200

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE

tui

T047

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http://purl.bioontology.org/ontology/MESH/D020386 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/ICD10CM/G71.19 International Classification of Diseases, Version 10 - Clinical Modification CUI