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Summary Literature (0)
DOID:0050570 - congenital disorder of glycosylation type I


Disease Ontology Definition:A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor.

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

Xenbase Genes : alg2, pgm1, dpagt1, dolk, alg8, stt3b, mpi, stt3a, dpm3, dpm1, srd5a3, alg3, rtf1, alg6, pmm2, [+]

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0005500 - congenital disorder of glycosylation type I

OMIM:
OMIM:212065 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia; CDG1A
OMIM:300884 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36; DEE36
OMIM:601110 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id; CDG1D
OMIM:602579 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib; CDG1B
OMIM:603147 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic; CDG1C
OMIM:607143 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig; CDG1G
OMIM:607906 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii; CDG1I
OMIM:608093 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij; CDG1J
OMIM:608104 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih; CDG1H
OMIM:608540 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik; CDG1K
OMIM:608776 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il; CDG1L
OMIM:608799 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie; CDG1E
OMIM:609180 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If; CDG1F
OMIM:610768 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im; CDG1M
OMIM:612015 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In; CDG1N
OMIM:612379 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq; CDG1Q
OMIM:612937 - MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15; MDDGC15
OMIM:613661 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip; CDG1P
OMIM:614507 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ir; CDG1R
OMIM:614921 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It; CDG1T
OMIM:615042 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu; CDG1U
OMIM:615596 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw; CDG1W
OMIM:615597 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ix; CDG1X

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): congenital disorder of glycosylation (is_a)