Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bed90a5d24a7210affd1df329ff309d4e> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- Bed90a5d24a7210affd1df329ff309d4e hasDbXref "Orphanet:1192" @default.
- Bed90a5d24a7210affd1df329ff309d4e type Axiom @default.
- Bed90a5d24a7210affd1df329ff309d4e annotatedProperty IAO_0000115 @default.
- Bed90a5d24a7210affd1df329ff309d4e annotatedSource MONDO_0008843 @default.
- Bed90a5d24a7210affd1df329ff309d4e annotatedTarget "A rare, severe, circulatory system disease characterized by premature, diffuse, severe atherosclerosis (including the aorta and renal, coronary, and cerebral arteries), sensorineural deafness, diabetes mellitus, progressive neurological deterioration with cerebellar symptoms and photomyoclonic seizures, and progressive nephropathy. Partial deficiency of mitochondrial complexes III and IV in the kidney and fibroblasts (but not in muscle) may be associated. There have been no further descriptions in the literature since 1994." @default.