FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term congenital disorder of glycosylation type IIr ID (Ontology) DOID:0051048 (Human Disease)
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.
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Human Disease Models (FBhh)  DOID       1
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 Genes Human Disease Models
 congenital disorder of glycosylation type IIr       1      1
 for disease ribbon | congenital disorder of glycosylation type IIr       1       --
 model of | congenital disorder of glycosylation type IIr       1       --
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X-linked monogenic disease
 |__X-linked recessive disease____________________
congenital disorder of glycosylation              |
 |__congenital disorder of glycosylation type II__|
                                                  congenital disorder of glycosylation type IIr  2 rec.
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Is a congenital disorder of glycosylation type II
X-linked recessive disease
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MIM:301045