Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bdd6a6efbf93f99c1bed483d7ba5cf5c4> ?p ?o ?g. }
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- Bdd6a6efbf93f99c1bed483d7ba5cf5c4 hasDbXref "PMID:30477030" @default.
- Bdd6a6efbf93f99c1bed483d7ba5cf5c4 hasDbXref "PMID:33309011" @default.
- Bdd6a6efbf93f99c1bed483d7ba5cf5c4 hasDbXref "https://www.clinicalgenome.org/affiliation/40011/" @default.
- Bdd6a6efbf93f99c1bed483d7ba5cf5c4 type Axiom @default.
- Bdd6a6efbf93f99c1bed483d7ba5cf5c4 annotatedProperty IAO_0000115 @default.
- Bdd6a6efbf93f99c1bed483d7ba5cf5c4 annotatedSource MONDO_0100255 @default.
- Bdd6a6efbf93f99c1bed483d7ba5cf5c4 annotatedTarget "A rare inborn error of metabolism characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement." @default.