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ZIRC
OBO ID: DOID:0080564
Term Name: congenital disorder of glycosylation Il Search Ontology:
Synonyms:
  • congenital disorder of glycosylation 1l
Definition: A congenital disorder of glycosylation I that is characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly and has_material_basis_in homozygous mutation in the ALG9 gene on chromosome 11q23. https://www.ncbi.nlm.nih.gov/pubmed/26453364
References:
Ontology: Human Disease   (DOID:0080564)
OTHER congenital disorder of glycosylation Il PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ALG9 Congenital disorder of glycosylation, type Il 608776
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None