Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B71500b0e2e0ea1bbfa157a52517ea9f5> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- B71500b0e2e0ea1bbfa157a52517ea9f5 hasDbXref "Orphanet:55595" @default.
- B71500b0e2e0ea1bbfa157a52517ea9f5 type Axiom @default.
- B71500b0e2e0ea1bbfa157a52517ea9f5 annotatedProperty IAO_0000115 @default.
- B71500b0e2e0ea1bbfa157a52517ea9f5 annotatedSource MONDO_0012034 @default.
- B71500b0e2e0ea1bbfa157a52517ea9f5 annotatedTarget "Autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) is a subtype of autosomal dominant limb-girdle muscular dystrophy,with a variable age of onset, characterized by progressive, proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle, and especially the ileopsoas muscle, being more affected) and frequent association of calf hypertrophy, dysphagia, arachnodactyly with or without finger contractures and/or distal and axial muscle involvement. Additional features include an abnormal gait, exercise intolerance, myalgia, fatigue and respiratory insufficiency. Cardiac conduction defects are typically not observed." @default.