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ONTOLOGY REPORT - ANNOTATIONS


Term:congenital disorder of glycosylation In
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Accession:DOID:0080566 term browser browse the term
Definition:A congenital disorder of glycosylation I that is characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive, myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder, roving eyes, developmental delay, poor to absent visual contact, and sensorineural hearing loss and has_material_basis_in homozygous or compound heterozygous mutation in the RFT1 gene on chromosome 3p21. (DO)
Synonyms:exact_synonym: CDG In;   CDG1N;   CDGIn;   Congenital Disorder of Glycosylation Type 1N;   Congenital Disorder of Glycosylation, Type In;   congenital disorder of glycosylation 1n
 primary_id: MESH:C567437
 alt_id: DOID:9004310;   OMIM:612015;   RDO:0015505
 xref: GARD:12394;   ORDO:244310
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congenital disorder of glycosylation In term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rft1 RFT1 homolog JBrowse link 16 6,712,387 6,746,711 RGD:7240710
RGD:8554872

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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
            congenital disorder of glycosylation 105
              congenital disorder of glycosylation type I 59
                congenital disorder of glycosylation In 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
          inherited metabolic disorder 1864
            carbohydrate metabolic disorder 320
              congenital disorder of glycosylation 105
                congenital disorder of glycosylation type I 59
                  congenital disorder of glycosylation In 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.