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ZIRC
OBO ID: DOID:0080561
Term Name: congenital disorder of glycosylation Ii Search Ontology:
Synonyms:
  • congenital disorder of glycosylation 1i
Definition: A congenital disorder of glycosylation I that is characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors and has_material_basis_in compound heterozygous mutation in the ALG2 gene on chromosome 9q22. https://www.ncbi.nlm.nih.gov/pubmed/12684507
References:
Ontology: Human Disease   (DOID:0080561)
OTHER congenital disorder of glycosylation Ii PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ALG2 ?Congenital disorder of glycosylation, type Ii 607906
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None