Summary Literature (0)

DOID:0050570 - congenital disorder of glycosylation type I

Disease Ontology Definition:A congenital disorder of glycosylation characterized by under-glycosylated serum glycoproteins.

Synonyms: ALG11-CDG (CDG-1p), ALG12-CDG (CDG-1g), ALG1-CDG (CDG-1k), 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, ssr4, stt3b, mpi, stt3a, dpm3, dpm1, srd5a3, alg3, rtf1, alg6, [+]

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0005500 - congenital disorder of glycosylation type I

MIM:

MIM:212065 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia; CDG1A

MIM:300884 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36; DEE36

MIM:601110 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id; CDG1D

MIM:602579 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib; CDG1B

MIM:603147 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic; CDG1C

MIM:607143 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig; CDG1G

MIM:607906 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii; CDG1I

MIM:608093 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij; CDG1J

MIM:608104 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih; CDG1H

MIM:608540 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik; CDG1K

MIM:608776 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il; CDG1L

MIM:608799 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie; CDG1E

MIM:609180 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If; CDG1F

MIM:610768 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im; CDG1M

MIM:612015 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In; CDG1N

MIM:612379 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq; CDG1Q

MIM:612937 - MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15; MDDGC15

MIM:613661 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip; CDG1P

MIM:614507 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ir; CDG1R

MIM:614921 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It; CDG1T

MIM:615042 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu; CDG1U

MIM:615596 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL RECESSIVE; CDG1WAR

MIM:615597 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ix; CDG1X

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee