CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie

CDG1E

http://purl.bioontology.org/ontology/OMIM/608799

CDG1E

CDGIe

CDG Ie

C1837396

20q13.13

CDGIE

MPDS

DPM1

http://purl.bioontology.org/ontology/OMIM/MTHU036360

http://purl.bioontology.org/ontology/OMIM/MTHU001747

http://purl.bioontology.org/ontology/OMIM/MTHU001745

http://purl.bioontology.org/ontology/OMIM/MTHU001753

http://purl.bioontology.org/ontology/OMIM/MTHU042906

http://purl.bioontology.org/ontology/OMIM/MTHU001741

http://purl.bioontology.org/ontology/OMIM/MTHU004246

http://purl.bioontology.org/ontology/OMIM/MTHU013555

http://purl.bioontology.org/ontology/OMIM/MTHU001750

http://purl.bioontology.org/ontology/OMIM/MTHU000926

http://purl.bioontology.org/ontology/OMIM/MTHU001763

http://purl.bioontology.org/ontology/OMIM/MTHU000579

http://purl.bioontology.org/ontology/OMIM/MTHU001751

http://purl.bioontology.org/ontology/OMIM/MTHU001757

http://purl.bioontology.org/ontology/OMIM/MTHU000235

http://purl.bioontology.org/ontology/OMIM/MTHU001761

http://purl.bioontology.org/ontology/OMIM/MTHU042908

http://purl.bioontology.org/ontology/OMIM/MTHU001755

http://purl.bioontology.org/ontology/OMIM/MTHU001649

http://purl.bioontology.org/ontology/OMIM/MTHU038923

http://purl.bioontology.org/ontology/OMIM/MTHU037519

http://purl.bioontology.org/ontology/OMIM/MTHU037241

http://purl.bioontology.org/ontology/OMIM/MTHU001760

http://purl.bioontology.org/ontology/OMIM/MTHU004142

http://purl.bioontology.org/ontology/OMIM/MTHU000389

http://purl.bioontology.org/ontology/OMIM/MTHU000081

http://purl.bioontology.org/ontology/OMIM/MTHU000660

http://purl.bioontology.org/ontology/OMIM/MTHU001740

http://purl.bioontology.org/ontology/OMIM/MTHU001746

http://purl.bioontology.org/ontology/OMIM/MTHU001744

http://purl.bioontology.org/ontology/OMIM/MTHU001742

http://purl.bioontology.org/ontology/OMIM/MTHU001756

http://purl.bioontology.org/ontology/OMIM/MTHU001754

http://purl.bioontology.org/ontology/OMIM/MTHU001748

http://purl.bioontology.org/ontology/OMIM/MTHU001752

http://purl.bioontology.org/ontology/OMIM/MTHU001683

http://purl.bioontology.org/ontology/OMIM/MTHU042907

http://purl.bioontology.org/ontology/OMIM/MTHU036371

http://purl.bioontology.org/ontology/OMIM/MTHU001634

http://purl.bioontology.org/ontology/OMIM/MTHU038924

http://purl.bioontology.org/ontology/OMIM/MTHU001772

http://purl.bioontology.org/ontology/OMIM/MTHU033543

http://purl.bioontology.org/ontology/OMIM/MTHU000576

http://purl.bioontology.org/ontology/OMIM/MTHU000242

http://purl.bioontology.org/ontology/OMIM/MTHU038278

http://purl.bioontology.org/ontology/OMIM/MTHU001739

http://purl.bioontology.org/ontology/OMIM/MTHU000189

http://purl.bioontology.org/ontology/OMIM/MTHU001158

http://purl.bioontology.org/ontology/OMIM/MTHU000263

http://purl.bioontology.org/ontology/OMIM/MTHU000197

http://purl.bioontology.org/ontology/OMIM/MTHU001749

Phenotype description, molecular basis known.

608799

3

pound

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie

Variable severity [MISCELLANEOUS]

Onset in infancy [MISCELLANEOUS]

Caused by mutation in the catalytic subunit of the dolichyl-phosphate mannosyltransferase 1 gene (DPM1, 603503.0001) [MOLECULAR BASIS]

Progressive disorder [MISCELLANEOUS]

T047