Congenital disorder of glycosylation, type III

Preferred Label : Congenital disorder of glycosylation, type III;

Symbol : CDG2I;

CISMeF acronym : CDG III; CDG2I;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cdg III; CDGIIi;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the component of oligomeric golgi complex 5 gene (COG5, 606821.0001);

Laboratory abnormalities : Abnormal isoelectric focusing of serum transferrin; Increased levels of trisialo-transferrin;

Prefixed ID : #613612;

Détails

Origin ID

613612;

UMLS CUI

C3150876;

Automatic exact mappings (from CISMeF team)
- Carbohydrate-Deficient Glycoprotein Syndrome [NCIt concept]
- congenital disorder of glycosylation, type im [MeSH concept]
- congenital disorder of glycosylation, type im [MeSH Supplementary Concept]
- congenital disorder of glycosylation, type in [MeSH concept]
- congenital disorder of glycosylation, type in [MeSH Supplementary Concept]
CISMeF manual mappings
- Component of oligomeric golgi complex 5 congenital disorder of glycosylation (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- COG5-CDG [ORDO Disease]
- congenital disorder of glycosylation type IIi [DO Concept]
DO Cross reference
- congenital disorder of glycosylation type IIi [DO Concept]
False automatic mappings
- 2'-CDg [MeSH concept]
Genes related to phenotype
- Component of oligomeric golgi complex 5 [OMIM gene]
HPO term(s)
- Atrophy/Degeneration affecting the brainstem [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Delayed speech and language development [HPO term]
- Hearing impairment [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Microcephaly [HPO term]
- Motor delay [HPO term]
- Neurogenic bladder [HPO term]
- Short stature [HPO term]
- Truncal ataxia [HPO term]
- Type II transferrin isoform profile [HPO term]
ORDO concept(s)
- COG5-CDG [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- COG5-CDG [ORDO Disease]
- Component of oligomeric golgi complex 5 congenital disorder of glycosylation (disorder) [SNOMED CT concept]

Position du mot-clé dans l'(les) arborescence(s) :

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