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RFT1-congenital disorder of glycosylation

Go to external page http://purl.obolibrary.org/obo/MONDO_0012783

RFT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental delay; poor to absent visual contact; and sensorineural hearing loss. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene RFT1 (3p21.1). [ Orphanet:244310 ]

Synonyms: RFT1-congenital disorder of glycosylation CDG1N congenital disorder of glycosylation type In carbohydrate deficient glycoprotein syndrome type In RFT1-CDG Man5GlcNAc2-PP-Dol flippase deficiency CDG syndrome type In congenital disorder of glycosylation type 1n CDG-In

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:0080566 (MONDO:equivalentTo)
  • UMLS:C2677590 (Orphanet:244310)
  • SCTID:733084000 (MONDO:equivalentTo)
  • Orphanet:244310 (OMIM:612015)
  • MESH:C567437 (MONDO:equivalentTo)
  • GARD:12394 (Orphanet:244310)
  • OMIM:612015 (Orphanet:244310/e)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

exactMatch

http://purl.obolibrary.org/obo/DOID_0080566

http://www.orpha.net/ORDO/Orphanet_244310

http://linkedlifedata.com/resource/umls/id/C2677590

http://identifiers.org/mesh/C567437

http://identifiers.org/snomedct/733084000

https://omim.org/entry/612015

has related synonym

congenital disorder of glycosylation, type In

RFT1-CDG (CDG-In)

CDGIN

CDG in

id

MONDO:0012783

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0012783