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ZIRC
OBO ID: DOID:0080556
Term Name: congenital disorder of glycosylation Id Search Ontology:
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:
Ontology: Human Disease   (DOID:0080556)
OTHER congenital disorder of glycosylation Id PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ALG3 Congenital disorder of glycosylation, type Id 601110
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None