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congenital disorder of glycosylation type I

^ http://purl.obolibrary.org/obo/MONDO_0005500

A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor. [ http://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation#Classification DOID:0050570 ]

Term info

database cross reference
  • EFO:0005545 (MONDO:equivalentTo)
  • DOID:0050570 (MONDO:equivalentTo)
  • OMIMPS:212065 (MONDO:equivalentTo)
definition

A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor.

exactMatch

https://omim.org/phenotypicSeries/PS212065, http://purl.obolibrary.org/obo/DOID_0050570

has exact synonym

congenital disorders of glycosylation, type I

has related synonym

DPM3-CDG, PMM2-CDG (CDG-1a), DOLK-CDG, DPM2-CDG (CDG-1u), MPDU1-CDG (CDG-1f), DPAGT1-CDG, ALG12-CDG (CDG-1g), ALG6-CDG (CDG-1c), DPM1-CDG (CDG-1e), ALG6-CDG, ALG9-CDG, ALG12-CDG, DPAGT1-CDG (CDG-1j), MPI-CDG (CDG-1b), ALG3-CDG (CDG-1d), ALG1-CDG, MPDU1-CDG, DPM3-CDG (CDG-1o), SRD5A3-CDG, PMM2-CDG, ALG3-CDG, MPI-CDG, SRD5A3-CDG (CDG-1q), DPM1-CDG, ALG2-CDG, ALG11-CDG, ALG8-CDG, ALG11-CDG (CDG-1p), DOLK-CDG (CDG-1m), ALG1-CDG (CDG-1k), ALG2-CDG (CDG-1i), DPM2-CDG, ALG8-CDG (CDG-1h), RFT1-CDG, RFT1-CDG (CDG-1n), ALG9-CDG (CDG-1l)

id

MONDO:0005500

Term relations