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- B7d8ae2718d249beffc7b0fe2f7945825 hasDbXref "PMID:30477030" @default.
- B7d8ae2718d249beffc7b0fe2f7945825 hasDbXref "PMID:33309011" @default.
- B7d8ae2718d249beffc7b0fe2f7945825 hasDbXref "https://www.clinicalgenome.org/affiliation/40011/" @default.
- B7d8ae2718d249beffc7b0fe2f7945825 type Axiom @default.
- B7d8ae2718d249beffc7b0fe2f7945825 annotatedProperty IAO_0000115 @default.
- B7d8ae2718d249beffc7b0fe2f7945825 annotatedSource MONDO_0100255 @default.
- B7d8ae2718d249beffc7b0fe2f7945825 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.