OBO ID: DOID:0080562
Term Name: congenital disorder of glycosylation Ij Search Ontology:
Synonyms:
  • Congenital disorder of glycosylation 1j
Definition: A congenital disorder of glycosylation I that is characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia and has_material_basis_in homozygous or compound heterozygous mutation in the DPAGT1 gene, which encodes UDP-GlcNAc:dolichyl-phosphate N-acetylglucosamine phosphotransferase, on chromosome 11q23. https://www.ncbi.nlm.nih.gov/pubmed/12872255
References:
Ontology: Human Disease   (DOID:0080562)
OTHER congenital disorder of glycosylation Ij PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DPAGT1 Congenital disorder of glycosylation, type Ij 608093
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None