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- B0ad88b9e29286f3e94b66867c7b1fefc hasDbXref "Orphanet:79327" @default.
- B0ad88b9e29286f3e94b66867c7b1fefc type Axiom @default.
- B0ad88b9e29286f3e94b66867c7b1fefc annotatedProperty IAO_0000115 @default.
- B0ad88b9e29286f3e94b66867c7b1fefc annotatedSource MONDO_0012052 @default.
- B0ad88b9e29286f3e94b66867c7b1fefc annotatedTarget "A severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3)." @default.