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MOGS-congenital disorder of glycosylation

^ http://purl.obolibrary.org/obo/MONDO_0011629

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). [ Orphanet:79330 ]

Term info

database cross reference
  • GARD:0010767 (MONDO:equivalentTo)
  • SCTID:725028009 (MONDO:equivalentTo)
  • UMLS:C1853736 (Orphanet:79330)
  • MESH:C565264 (MONDO:equivalentTo)
  • Orphanet:79330 (OMIM:606056)
  • DOID:0070254 (MONDO:equivalentTo)
  • OMIM:606056 (Orphanet:79330/e)
Subsets

ordo_disease

abbreviation
CDG2B [ Orphanet:79330 MONDO:Lexical OMIM:606056 ]

abbreviation
MOGS-CDG [ Orphanet:79330 ]

definition

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).

exactMatch

http://linkedlifedata.com/resource/umls/id/C1853736, http://identifiers.org/mesh/C565264, http://purl.obolibrary.org/obo/Orphanet_79330, https://omim.org/entry/606056, http://identifiers.org/snomedct/725028009, http://purl.obolibrary.org/obo/DOID_0070254

has exact synonym

carbohydrate deficient glycoprotein syndrome type IIb, CDG-IIb, MOGS-CDG, glucosidase 1 deficiency, congenital disorder of glycosylation type 2b, congenital disorder of glycosylation type IIb, MOGS-congenital disorder of glycosylation, CDG2B, CDG syndrome type IIb

has related synonym

congenital disorder of glycosylation, type IIb, CDG 2B, CDG IIb, GCS1-CDG, MOGS-CDG (CDG-IIb)

id

MONDO:0011629