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: 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)

Echinobase Genes : alg12, alg11, alg8, mpdu1, mpi, alg9, ddost, alg3, alg6, dpm2, rft1, stt3b, stt3a, dpm1, dolk


MIM:

MIM:212065 - congenital disorder of glycosylation, type ia; cdg1a

MIM:300884 - congenital disorder of glycosylation, type is; cdg1s

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 - congenital disorder of glycosylation, type io; cdg1o

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; cdg1w

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