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General Information
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| Term |
congenital disorder of glycosylation Ij |
ID (Ontology) |
DOID:0080562 (Human Disease) |
| Definition |
A congenital disorder of glycosylation I that is characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia and has_material_basis_in homozygous or compound heterozygous mutation in the DPAGT1 gene, which encodes UDP-GlcNAc:dolichyl-phosphate N-acetylglucosamine phosphotransferase, on chromosome 11q23. |
| Also Known As |
"Congenital disorder of glycosylation 1j" |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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| Data Class | Field | Records |
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| Alleles (FBal) | HUMAN_DISEASE_INTERACTIONS | 17 | | Human Disease Models (FBhh) | DOID | 1 |
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Alleles | Genes | Human Disease Models |
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congenital disorder of glycosylation Ij | 17 | 15 | 1 | ameliorates | congenital disorder of glycosylation Ij | 15 | -- | -- | exacerbates | congenital disorder of glycosylation Ij | 1 | -- | -- | for disease ribbon | congenital disorder of glycosylation Ij | -- | 1 | -- | model of | congenital disorder of glycosylation Ij | 1 | 1 | -- |
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Relationships