ZFIN Human Disease: congenital disorder of glycosylation Ir

OBO ID: DOID:0080569

Term Name:	congenital disorder of glycosylation Ir		Search Ontology:
Synonyms:	congenital disorder of glycosylation 1r
Definition:	A congenital disorder of glycosylation I that is characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction and has_material_basis_in compound heterozygous mutation in the DDOST gene on chromosome 1p36. https://www.ncbi.nlm.nih.gov/pubmed/22305527
References:	GARD:12398 OMIM:614507 ORDO:300536
Ontology:	Human Disease ( DOID:0080569 )

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 Ir PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
DDOST	ddost	Congenital disorder of glycosylation, type Ir	614507

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None