NGLY1 deficiency

Preferred Label : NGLY1 deficiency;

MeSH synonym : Congenital disorder of deglycosylation; Congenital disorder of glycosylation, type Iv; Alacrimia-choreoathetosis-liver dysfunction syndrome;

Details

Origin ID

C000626124;

UMLS CUI

C3808991;

Automatic exact mappings (from CISMeF team)
- Congenital disorder of deglycosylation [OMIM phenotypic series]
Currated CISMeF NLP mapping
- Alacrimia-choreoathetosis-liver dysfunction syndrome [ORDO Disease]
- Congenital disorder of deglycosylation 1 [OMIM Phenotype]
- N-glycanase 1 congenital disorder of deglycosylation (disorder) [SNOMED CT concept]
- NGLY1-deficiency [DO Concept]
MeSH term(s) associated for indexing
- Peptide-N4-(N-acetyl-beta-glucosaminyl) asparagine amidase [MeSH Descriptor]
- congenital disorders of glycosylation [MeSH Descriptor]
Record concept(s)
- NGLY1 deficiency [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Alacrimia-choreoathetosis-liver dysfunction syndrome [ORDO Disease]
- Congenital Disorder of Deglycosylation [NCIt concept]
- Congenital disorder of deglycosylation 1 [OMIM Phenotype]
- N-glycanase 1 congenital disorder of deglycosylation (disorder) [SNOMED CT concept]
- NGLY1-deficiency [DO Concept]
Validated automatic mappings to NTBT
- Congenital Disorder of Deglycosylation [NCIt concept]

Keyword's position in hierarchy(ies) :

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