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Metadata
ID	DOID:0051048
Name	congenital disorder of glycosylation type IIr
Definition	A congenital disorder of glycosylation type II that is characterized by infantile onset of liver failure, recurrent infections due to hypogammaglobulinemia, and cutis laxa and that has_material_basis_in hemizygous mutation in the ATP6AP2 gene on chromosome Xp11. https://pubmed.ncbi.nlm.nih.gov/29127204/
Xrefs	MIM:301045
Parent Relationships	is_a congenital disorder of glycosylation type II is_a X-linked recessive disease
Subclass Logical Relationships	has material basis in some X-linked recessive inheritance