ZFIN Human Disease: congenital disorder of glycosylation If

OBO ID: DOID:0080558

Term Name:	congenital disorder of glycosylation If		Search Ontology:
Synonyms:	congenital disorder of glycosylation 1f
Definition:	A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies and has_material_basis_in homozygous or compound heterozygous mutation in the MPDU1 gene on chromosome 17p13. https://www.ncbi.nlm.nih.gov/pubmed/11733556
References:	GARD:9832 OMIM:609180 ORDO:79323
Ontology:	Human Disease ( DOID:0080558 )

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 If PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
MPDU1	mpdu1a mpdu1b	Congenital disorder of glycosylation, type If	609180

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None