ZFIN Human Disease: distal myopathy with anterior tibial onset

OBO ID: DOID:0111187

Term Name:	distal myopathy with anterior tibial onset		Search Ontology:
Synonyms:	distal muscular dystrophy with anterior tibial onset DMAT
Definition:	A distal myopathy that is characterized by onset at 14-28 years of age starting first in the anterior tibial muscles and involving both upper and lower proximal muscles that has_material_basis_in homozygous mutation in the gene encoding dysferlin (DYSF) on chromosome 2p13. (2)
References:	OMIM:606768 ORDO:178400
Ontology:	Human Disease ( DOID:0111187 )

Relationships

is a type of:	autosomal recessive disease distal myopathy autosomal recessive disease distal myopathy Show first 5 Terms

OTHER distal myopathy with anterior tibial onset PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
DYSF	dysf	Myopathy, distal, with anterior tibial onset	606768

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None