OBO ID: DOID:0080558 |
Term Name: | congenital disorder of glycosylation If | Search Ontology: | |
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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 | ||
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Ontology: | Human Disease ( DOID:0080558 ) |
OTHER congenital disorder of glycosylation If PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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