ZFIN Human Disease: congenital muscular dystrophy due to LMNA mutation

OBO ID: DOID:0110640

Term Name:	congenital muscular dystrophy due to LMNA mutation		Search Ontology:
Synonyms:	congenital muscular dystrophy LMNA-related L-CMD LMNA-related congenital muscular dystrophy
Definition:	A congenital muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22. (2)
References:	ICD10CM:G71.2 OMIM:613205 ORDO:157973
Ontology:	Human Disease ( DOID:0110640 )

Relationships

is a type of:	autosomal dominant disease congenital muscular dystrophy autosomal dominant disease congenital muscular dystrophy Show first 5 Terms

OTHER congenital muscular dystrophy due to LMNA mutation PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
LMNA	lmna	Muscular dystrophy, congenital	613205

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None