ZFIN Human Disease: autosomal recessive limb-girdle muscular dystrophy type 2C

OBO ID: DOID:0110277

Term Name:	autosomal recessive limb-girdle muscular dystrophy type 2C		Search Ontology:
Synonyms:	autosomal recessive Duchenne-like muscular dystrophy type 1 deficiency of sarcoglycan gamma DMDA1 gamma-sarcoglycanopathy LGMD2C limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency Maghrebian myopathy muscular dystrophy, limb-girdle, type 2C SCARMD severe childhood autosomal recessive muscular dystrophy North African type
Definition:	An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gamma-sarcoglycan gene (SGCG) on chromosome 13q12. https://www.ncbi.nlm.nih.gov/pubmed/7481775
References:	ICD10CM:G71.0 OMIM:253700 ORDO:353
Ontology:	Human Disease ( DOID:0110277 )

Relationships

is a type of:	autosomal recessive limb-girdle muscular dystrophy autosomal recessive limb-girdle muscular dystrophy Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
SGCG	sgcg	Muscular dystrophy, limb-girdle, autosomal recessive 5	253700

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None