congenital disorder of glycosylation type IIr

Term ID

DOID:0051048

Synonyms

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/

References

MIM:301045

Ontology

Human Disease ( DOID:0051048 )

Relationships

is a type of: congenital disorder of glycosylation type II X-linked recessive disease

congenital disorder of glycosylation type II X-linked recessive disease Show first 5 Terms

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Genes Involved

Zebrafish Models