ZFIN Human Disease: congenital disorder of glycosylation Im

OBO ID: DOID:0080565

Term Name:	congenital disorder of glycosylation Im		Search Ontology:
Synonyms:	congenital disorder of glycosylation 1m dolichol kinase deficiency DOLK-congenital disorder of glycosylation
Definition:	A congenital disorder of glycosylation I that is characterized by muscular hypotonia and ichthyosis and has_material_basis_in homozygous mutation in the DOLK gene, which encodes the enzyme responsible for the final step of the de novo biosynthesis of dolichol phosphate, on chromosome 9q34. (2)
References:	GARD:12393 OMIM:610768 ORDO:91131
Ontology:	Human Disease ( DOID:0080565 )

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 Im PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
DOLK	dolk	Congenital disorder of glycosylation, type Im	610768

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None