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General Information
ZIRC
OBO ID: DOID:0080558
Term Name: congenital disorder of glycosylation If Search Ontology:
Synonyms:
  • congenital disorder of glycosylation 1f
Definition: A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies and has_material_basis_in homozygous or compound heterozygous mutation in the MPDU1 gene on chromosome 17p13. https://www.ncbi.nlm.nih.gov/pubmed/11733556
References:
Ontology: Human Disease   (DOID:0080558)
OTHER congenital disorder of glycosylation If PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MPDU1 Congenital disorder of glycosylation, type If 609180
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None