ZFIN Human Disease: congenital disorder of glycosylation

OBO ID: DOID:5212

Term Name:	congenital disorder of glycosylation		Search Ontology:
Synonyms:	carbohydrate-deficient glycoprotein syndrome
Definition:	A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids. http://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation
References:	GARD:10307 MESH:D018981 NCI:C84615 ORDO:137 SNOMEDCT_US_2023_03_01:238049009 UMLS_CUI:C0282577
Ontology:	Human Disease ( DOID:5212 )

Relationships

is a type of:	carbohydrate metabolic disorder physical disorder carbohydrate metabolic disorder physical disorder Show first 5 Terms
has subtype:	alacrima, achalasia, and impaired intellectual development syndrome congenital disorder of glycosylation type I congenital disorder of glycosylation type II alacrima, achalasia, and impaired intellectual development syndrome congenital disorder of glycosylation type I congenital disorder of glycosylation type II Show first 5 Terms

OTHER congenital disorder of glycosylation PAGES

Alliance (1)

GENES INVOLVED No data available

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS (4)