Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B50bfe89e8bb85d28d0297be99a9b0a9c> ?p ?o ?g. }
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- B50bfe89e8bb85d28d0297be99a9b0a9c hasDbXref "Orphanet:800" @default.
- B50bfe89e8bb85d28d0297be99a9b0a9c type Axiom @default.
- B50bfe89e8bb85d28d0297be99a9b0a9c annotatedProperty IAO_0000115 @default.
- B50bfe89e8bb85d28d0297be99a9b0a9c annotatedSource MONDO_0009717 @default.
- B50bfe89e8bb85d28d0297be99a9b0a9c annotatedTarget "A rare, genetic neuromuscular disease characterized by permanent myotonia, mask-like facies (with blepharospasm, narrow palpebral fissures, small mouth with pursed lips and puckered chin) , and chondrodysplasia (variably manifesting with short stature, pectus carinatum, kyphoscoliosis, bowing of long bones, epiphyseal, metaphyseal, and hip dysplasia)." @default.