About   Help   FAQ
Disease Ontology Browser
congenital disorder of glycosylation If (DOID:0080558)
Alliance: disease page
Synonyms: congenital disorder of glycosylation 1f
Alt IDs: OMIM:609180, ORDO:79323
Definition: A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies and has_material_basis_in homozygous or compound heterozygous mutation in the MPDU1 gene on chromosome 17p13.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Copyright, and Privacy Statement
Send questions and comments to User Support.
last database update
01/17/2023
MGI 6.22
The Jackson Laboratory