congenital disorder of glycosylation type I

Go to external page http://purl.obolibrary.org/obo/MONDO_0005500


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

This is just here as a test because I lose it

Term information

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

http://purl.obolibrary.org/obo/DOID_0050570

has exact synonym

congenital disorders of glycosylation, type I

has related synonym

PMM2-CDG (CDG-1a)

DPM3-CDG

DOLK-CDG

MPDU1-CDG (CDG-1f)

DPM2-CDG (CDG-1u)

DPAGT1-CDG

ALG6-CDG (CDG-1c)

ALG12-CDG (CDG-1g)

DPM1-CDG (CDG-1e)

ALG6-CDG

ALG9-CDG

ALG12-CDG

MPI-CDG (CDG-1b)

DPAGT1-CDG (CDG-1j)

ALG3-CDG (CDG-1d)

ALG1-CDG

MPDU1-CDG

DPM3-CDG (CDG-1o)

SRD5A3-CDG

MPI-CDG

PMM2-CDG

ALG3-CDG

DPM1-CDG

SRD5A3-CDG (CDG-1q)

ALG2-CDG

ALG11-CDG

ALG8-CDG

ALG11-CDG (CDG-1p)

DOLK-CDG (CDG-1m)

ALG1-CDG (CDG-1k)

ALG2-CDG (CDG-1i)

DPM2-CDG

RFT1-CDG

ALG8-CDG (CDG-1h)

RFT1-CDG (CDG-1n)

ALG9-CDG (CDG-1l)

id

MONDO:0005500

should conform to

http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml

Term relations