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Human Disease

congenital disorder of glycosylation Ir

Term ID
DOID:0080569
Synonyms
  • congenital disorder of glycosylation 1r
Definition
A congenital disorder of glycosylation I that is characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction and has_material_basis_in compound heterozygous mutation in the DDOST gene on chromosome 1p36. https://www.ncbi.nlm.nih.gov/pubmed/22305527
References
Ontology
Human Disease   ( DOID:0080569 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models