Congenital Disorder of Deglycosylation

Preferred Label : Congenital Disorder of Deglycosylation;

NCIt synonyms : CDDG;

NCIt definition : A rare autosomal recessive inherited disorder caused by mutations in the NGLY1 gene. It is characterized by developmental delay, hypotonia, abnormal involuntary movements, poor tear production, microcephaly, intractable seizures, abnormal eye movements, and liver abnormalities.;

Details

Origin ID

C126746;

UMLS CUI

C3808991;

Currated CISMeF NLP mapping
- Carbohydrate-deficient glycoprotein syndrome (disorder) [SNOMED CT concept]
- Congenital disorder of deglycosylation 1 [OMIM Phenotype]
- Congenital disorder of glycosylation [MedDRA Preferred Term]
- Congenital disorder of glycosylation [ORDO Disease]
- congenital disorder of glycosylation [DO Concept]
- congenital disorder of glycosylation [Disease (Nov.)]
- congenital disorders of glycosylation [MeSH concept]
- congenital disorders of glycosylation [MeSH Descriptor]
- congenital disorders of glycosylation [Error of metabolism category]
See also inter- (CISMeF)
- Congenital disorder of deglycosylation [OMIM phenotypic series]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 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 [MeSH Supplementary Concept]
- NGLY1-deficiency [DO Concept]
Validated automatic mappings to BTNT
- Alacrimia-choreoathetosis-liver dysfunction syndrome [ORDO Disease]
- N-glycanase 1 congenital disorder of deglycosylation (disorder) [SNOMED CT concept]
- NGLY1 deficiency [MeSH Supplementary Concept]
- NGLY1-deficiency [DO Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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