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ONTOLOGY REPORT - ANNOTATIONS


Term:NGLY1-deficiency
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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
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        inherited metabolic disorder 1864
          carbohydrate metabolic disorder 320
            NGLY1-deficiency 1
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal recessive disease 1981
                NGLY1-deficiency 1
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