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Metadata
ID DOID:0080569
Name congenital disorder of glycosylation Ir
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
Xrefs

GARD:12398

MIM:614507

ORDO:300536

Subsets

DO_rare_slim

Synonyms

congenital disorder of glycosylation 1r [EXACT]

Parent Relationships

is_a autosomal recessive disease

is_a congenital disorder of glycosylation type I

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