congenital disorder of glycosylation Id

Term ID

DOID:0080556

Synonyms

congenital disorder of glycosylation 1d

Definition

A congenital disorder of glycosylation I that is characterized by severe neurologic involvement associated with dysmorphism and visual impairment and has_material_basis_in homozygous or compound heterozygous mutation in the ALG3 gene on chromosome 3q27. https://www.ncbi.nlm.nih.gov/pubmed/28108845

References

GARD:9827
MIM:601110
ORDO:79321

Ontology

Human Disease ( DOID:0080556 )

Relationships

is a type of: autosomal recessive disease congenital disorder of glycosylation type I

autosomal recessive disease congenital disorder of glycosylation type I Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models