# NGLY1-deficiency

> Human disease

**Wikidata**: [Q28024539](https://www.wikidata.org/wiki/Q28024539)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/NGLY1_deficiency)  
**Source**: https://4ort.xyz/entity/ngly1-deficiency


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway
4. Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation
5. [Source](https://rarediseases.org/rare-diseases/ngly1-deficiency/)
6. UniProt
7. Clinical application of exome sequencing in undiagnosed genetic conditions
8. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/5619)
9. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_5619)
10. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000151092/Orphanet_404454)
11. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)