FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
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Term congenital disorder of glycosylation type IIv ID (Ontology) DOID:0051050 (Human Disease)
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.
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 congenital disorder of glycosylation type IIv       1
 for disease ribbon | congenital disorder of glycosylation type IIv       1
 model of | congenital disorder of glycosylation type IIv       1
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autosomal genetic disease
 |__autosomal recessive disease___________________
congenital disorder of glycosylation              |
 |__congenital disorder of glycosylation type II__|
                                                  congenital disorder of glycosylation type IIv  1 rec.
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Is a congenital disorder of glycosylation type II
autosomal recessive disease
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MIM:619493