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 type I ID (Ontology) DOID:0050570 (Human Disease)
Definition A congenital disorder of glycosylation characterized by under-glycosylated serum glycoproteins.
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DO.org
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Records annotated with this term OR any of its CHILD TERMS
Records annotated with this exact term (annotations to child terms are NOT included)
Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       4
Human Disease Models (FBhh)  DOID       1
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 Alleles Genes Human Disease Models
 congenital disorder of glycosylation type I       4      1      1
 model of | congenital disorder of glycosylation type I       4       --       --
Spanning Tree (Parents/Children)
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physical disorder________________
carbohydrate metabolic disorder__|
                                 congenital disorder of glycosylation
                                  |__congenital disorder of glycosylation type I  56 rec.
                                      |__congenital disorder of glycosylation Ia 2 rec.
                                      |__congenital disorder of glycosylation Iaa 1 rec.
                                      |__congenital disorder of glycosylation Ib 1 rec.
                                      |__congenital disorder of glycosylation Ic 1 rec.
                                      |__congenital disorder of glycosylation Icc 1 rec.
                                      |__congenital disorder of glycosylation Id 1 rec.
                                      |__congenital disorder of glycosylation Ie 1 rec.
                                      |__congenital disorder of glycosylation If 1 rec.
                                      |__congenital disorder of glycosylation Ig 1 rec.
                                      |__congenital disorder of glycosylation Ih 1 rec.
                                      |__congenital disorder of glycosylation Ii 1 rec.
                                      |__congenital disorder of glycosylation Ij 33 rec.
                                      |__congenital disorder of glycosylation Ik 1 rec.
                                      |__congenital disorder of glycosylation Il 1 rec.
                                      |__congenital disorder of glycosylation Im 1 rec.
                                      |__congenital disorder of glycosylation In 1 rec.
                                      |__congenital disorder of glycosylation Ip 1 rec.
                                      |__congenital disorder of glycosylation Iq 1 rec.
                                      |__congenital disorder of glycosylation Ir 1 rec.
                                      |__congenital disorder of glycosylation It 1 rec.
                                      |__congenital disorder of glycosylation Iu 1 rec.
                                      |__congenital disorder of glycosylation Iw 1 rec.
                                      |__congenital disorder of glycosylation Ix 1 rec.
                                      |__congenital disorder of glycosylation Iy 1 rec.
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Is a congenital disorder of glycosylation
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MIM:PS212065