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Accession:DOID:0060728 term browser browse the term
Definition:A carbohydrate metabolic disorder that is characterized by global developmental delay, hypotonia, abnormal involuntary movements, and alacrima or poor tear production and that has_material_basis_in homozygous or compound heterozygous mutation in the NGLY1 gene on chromosome 1p24. (DO)
Synonyms:exact_synonym: CDDG;   CDG IV;   CDG1V;   CDGIV;   NGLY1-CDDG;   congenital disorder of deglycosylation;   congenital disorder of glycosylation 1V;   congenital disorder of glycosylation type Iv;   deficiency of N-glycanase 1
 primary_id: OMIM:615273
 alt_id: RDO:9000888
 xref: ORDO:404454
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NGLY1-deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ngly1 N-glycanase 1 JBrowse link 15 10,405,453 10,455,973 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15639
    Nutritional and Metabolic Diseases 4392
      disease of metabolism 4392
        inherited metabolic disorder 1879
          carbohydrate metabolic disorder 326
            NGLY1-deficiency 1
Path 2
Term Annotations click to browse term
  disease 15639
    Developmental Diseases 8774
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7556
        genetic disease 7052
          monogenic disease 4684
            autosomal genetic disease 3642
              autosomal recessive disease 2078
                NGLY1-deficiency 1
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