BabelNet

bn:05504727n

Noun Named Entity

SYL

No term available

Autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) on chromosome 1p34 Wikidata

Relations

Sources

IS A

rare disease

GENETIC ASSOCIATION

POMGNT1

HEALTH SPECIALTY

neurology