Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B6fa207557ef24e8e6bb51d902052cc87> ?p ?o ?g. }
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- B6fa207557ef24e8e6bb51d902052cc87 hasDbXref "NCIT:C142082" @default.
- B6fa207557ef24e8e6bb51d902052cc87 hasDbXref "PMID:1897643" @default.
- B6fa207557ef24e8e6bb51d902052cc87 hasDbXref "PMID:27807076" @default.
- B6fa207557ef24e8e6bb51d902052cc87 hasDbXref "PMID:30055862" @default.
- B6fa207557ef24e8e6bb51d902052cc87 hasDbXref "https://clinicalgenome.org/affiliation/40061/" @default.
- B6fa207557ef24e8e6bb51d902052cc87 type Axiom @default.
- B6fa207557ef24e8e6bb51d902052cc87 annotatedProperty IAO_0000115 @default.
- B6fa207557ef24e8e6bb51d902052cc87 annotatedSource MONDO_0014977 @default.
- B6fa207557ef24e8e6bb51d902052cc87 annotatedTarget "An autosomal recessive condition caused by pathogenic variant(s) of the POGLUT1 gene, encoding protein O-glucosyltransferase 1. It is characterized by progressive muscular dystrophy, primarily affecting the proximal muscles, resulting in difficulty walking. A characteristic finding of “inside-to-outside” fatty degeneration on muscle imaging has been noted in patients." @default.