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Metadata
ID	DOID:0051050
Name	congenital disorder of glycosylation type IIv
Definition	A congenital disorder of glycosylation type II that is characterized by neurodevelopmental delay and variable facial dysmorphisms and that has_material_basis_in homozygous or compound heterozygous mutation in the EDEM3 gene on chromosome 1q25. https://pubmed.ncbi.nlm.nih.gov/34143952/
Xrefs	MIM:619493
Parent Relationships	is_a congenital disorder of glycosylation type II is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance