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

OBO ID: DOID:0110299

Term Name:	autosomal recessive limb-girdle muscular dystrophy type 2I		Search Ontology:
Synonyms:	LGMD2I Limb-girdle muscular dystrophy due to FKRP deficiency MDDGC5 muscular dystrophy limb-girdle type 2I muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5 muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related
Definition:	An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin-related protein (FKRP) on chromosome 19q13.3. https://www.ncbi.nlm.nih.gov/pubmed/11592034
References:	ICD10CM:G71.0 OMIM:607155 ORDO:34515
Ontology:	Human Disease ( DOID:0110299 )

Relationships

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

OTHER autosomal recessive limb-girdle muscular dystrophy type 2I PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
FKRP	fkrp	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5	607155

ZEBRAFISH MODELS

Fish	Conditions	Citations
fkrp^{uab203/uab203}; uab202Tg	heat shock	Serafini et al., 2018

PHENOTYPE No data available

CITATIONS (1)