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General Information
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| Term |
congenital disorder of deglycosylation 1 |
ID (Ontology) |
DOID:0060728 (Human Disease) |
| Definition |
A carbohydrate metabolic disorder that is characterized by global developmental delay, hypotonia, abnormal involuntary movements, and alacrima or poor tear production and that has_material_basis_in homozygous or compound heterozygous mutation in the NGLY1 gene on chromosome 3p24. |
| Also Known As |
"congenital disorder of glycosylation type Iv" ; "deficiency of N-glycanase 1" ; "NGLY1-CDDG" (for all, see Synonyms field below) |
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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 | 23 | | 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 deglycosylation 1 | 23 | 10 | 1 | ameliorates | congenital disorder of deglycosylation 1 | 7 | -- | -- | exacerbates | congenital disorder of deglycosylation 1 | 5 | -- | -- | for disease ribbon | congenital disorder of deglycosylation 1 | -- | 1 | -- | model of | congenital disorder of deglycosylation 1 | 11 | 1 | -- |
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Relationships