Congenital Disorder of Glycosylation Type If

Preferred Label : Congenital Disorder of Glycosylation Type If;

NCIt synonyms : CDGIf;

NCIt definition : A congenital disorder of glycosylation sub-type caused by mutation(s) in the MPDU1 gene, encoding mannose-P-dolichol utilization defect 1 protein.;

Details

Origin ID

C126872;

UMLS CUI

C1836669;

Automatic exact mappings (from CISMeF team)
- Congenital disorder of glycosylation type 1s (disorder) [SNOMED CT concept]
- Congenital disorder of glycosylation, type in [OMIM Phenotype]
- Congenital disorder of glycosylation, type it [OMIM Phenotype]
- PGM1-CDG [ORDO Disease]
- RFT1-CDG [ORDO Disease]
- SLC35A1-CDG [ORDO Disease]
- congenital disorder of glycosylation, type in [MeSH Supplementary Concept]
- congenital disorder of glycosylation, type in [MeSH concept]
- developmental and epileptic encephalopathy 36 [DO Concept]
- mannose-P-dolichol utilization defect 1 [ORDO Gene]
Currated CISMeF NLP mapping
- Congenital disorder of glycosylation type 1F [MeSH concept]
- Congenital disorder of glycosylation type 1f (disorder) [SNOMED CT concept]
- Congenital disorder of glycosylation, type if [OMIM Phenotype]
- MPDU1-CDG [ORDO Disease]
- congenital disorder of glycosylation type 1F [MeSH Supplementary Concept]
See also inter- (CISMeF)
- ALG13-CDG [ORDO Disease]
- Congenital disorder of glycosylation type 1n (disorder) [SNOMED CT concept]
- Developmental and epileptic encephalopathy 36 [OMIM Phenotype]
- Phosphoglucomutase 1-related congenital disorder of glycosylation (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital disorder of glycosylation type 1F [MeSH concept]
- Congenital disorder of glycosylation type 1f (disorder) [SNOMED CT concept]
- Congenital disorder of glycosylation, type if [OMIM Phenotype]
- MPDU1-CDG [ORDO Disease]
- congenital disorder of glycosylation type 1F [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- MPDU1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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