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General Information
ZIRC
OBO ID: DOID:0080569
Term Name: congenital disorder of glycosylation Ir Search Ontology:
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)
OTHER congenital disorder of glycosylation Ir PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DDOST ?Congenital disorder of glycosylation, type Ir 614507
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None