Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Becf4a0e21fd10dd5d7a2c4f739f6d6e2> ?p ?o ?g. }
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- Becf4a0e21fd10dd5d7a2c4f739f6d6e2 hasDbXref "Orphanet:79330" @default.
- Becf4a0e21fd10dd5d7a2c4f739f6d6e2 type Axiom @default.
- Becf4a0e21fd10dd5d7a2c4f739f6d6e2 annotatedProperty IAO_0000115 @default.
- Becf4a0e21fd10dd5d7a2c4f739f6d6e2 annotatedSource MONDO_0011629 @default.
- Becf4a0e21fd10dd5d7a2c4f739f6d6e2 annotatedTarget "MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1)." @default.