ZFIN Human Disease: congenital disorder of glycosylation Id

OBO ID: DOID:0080556

Term Name:	congenital disorder of glycosylation Id		Search Ontology:
Synonyms:	congenital disorder of glycosylation 1d
Definition:	A congenital disorder of glycosylation I that is characterized by severe neurologic involvement associated with dysmorphism and visual impairment and has_material_basis_in homozygous or compound heterozygous mutation in the ALG3 gene on chromosome 3q27. https://www.ncbi.nlm.nih.gov/pubmed/28108845
References:	GARD:9827 OMIM:601110 ORDO:79321
Ontology:	Human Disease ( DOID:0080556 )

Relationships

is a type of:	autosomal recessive disease congenital disorder of glycosylation type I autosomal recessive disease congenital disorder of glycosylation type I Show first 5 Terms

OTHER congenital disorder of glycosylation Id PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
ALG3	alg3	Congenital disorder of glycosylation, type Id	601110

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None