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- B609b701b8c2017cc14d0a10c7b922095 hasDbXref "Orphanet:238755" @default.
- B609b701b8c2017cc14d0a10c7b922095 type Axiom @default.
- B609b701b8c2017cc14d0a10c7b922095 annotatedProperty IAO_0000115 @default.
- B609b701b8c2017cc14d0a10c7b922095 annotatedSource MONDO_0013297 @default.
- B609b701b8c2017cc14d0a10c7b922095 annotatedTarget "Autosomal dominant limb-girdle muscular dystrophy type 1H (LGMD1H) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by slowly progressive proximal muscular weakness initially affecting the lower limbs (and later involving the upper limbs), hypotrophy of upper and lower limb-girdle muscles, hyporeflexia, calf hypertrophy, and increased serum creatine kinase. There is no involvement of oculo-facial-bulbar muscles and cardiac muscle." @default.