FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term congenital disorder of glycosylation Ir ID (Ontology) DOID:0080569 (Human Disease)
Definition A congenital disorder of glycosylation I that is characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction and has_material_basis_in compound heterozygous mutation in the DDOST gene on chromosome 1p36.
Also Known As "congenital disorder of glycosylation 1r"
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 Genes
 congenital disorder of glycosylation Ir       1
 for disease ribbon | congenital disorder of glycosylation Ir       1
 model of | congenital disorder of glycosylation Ir       1
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autosomal genetic disease
 |__autosomal recessive disease__________________
congenital disorder of glycosylation             |
 |__congenital disorder of glycosylation type I__|
                                                 congenital disorder of glycosylation Ir  1 rec.
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Is a congenital disorder of glycosylation type I
autosomal recessive disease
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Synonyms
  • "congenital disorder of glycosylation 1r" EXACT
Secondary IDs
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GARD:12398
MIM:614507
ORDO:300536