Search Ontology:
Human Disease
congenital disorder of deglycosylation 1
- Term ID
- DOID:0060728
- Synonyms
-
- congenital disorder of glycosylation type Iv
- deficiency of N-glycanase 1
- NGLY1-CDDG
- 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. (2)
- References
-
- ICD10CM:E77.8
- MESH:C000626124
- MIM:615273
- Ontology
- Human Disease ( DOID:0060728 )
- is a type of
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Genes Involved
| Human Gene | Zebrafish Ortholog | OMIM Term | Disease | OMIM Phenotype ID |
|---|---|---|---|---|
| NGLY1 | Congenital disorder of deglycosylation 1 | congenital disorder of deglycosylation 1 | 615273 |
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