OBO ID: DOID:0060728 |
Term Name: | NGLY1-deficiency | Search Ontology: | |
---|---|---|---|
Synonyms: |
|
||
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 1p24. (2) | ||
References: |
|
||
Ontology: | Human Disease ( DOID:0060728 ) |
OTHER NGLY1-deficiency PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
Your Input Welcome
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if
additional information is required.
Oops. Something went wrong. Please try again later.