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ONTOLOGY REPORT - ANNOTATIONS


Term:congenital disorder of glycosylation Iy
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Accession:DOID:0080574 term browser browse the term
Definition:A congenital disorder of glycosylation I that is characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus and has_material_basis_in hemizygous mutation in the SSR4 gene on chromosome Xq28. (DO)
Synonyms:exact_synonym: CDG IY;   CDG1Y;   CDGIy;   congenital disorder of glycosylation 1y;   congenital disorder of glycosylation type 1Y;   congenital disorder of glycosylation, type Iy
 primary_id: OMIM:300934
 alt_id: RDO:9001412
 xref: GARD:12405;   ORDO:370927
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congenital disorder of glycosylation Iy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ssr4 signal sequence receptor subunit 4 JBrowse link X 156,995,763 156,999,702 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15503
    Nutritional and Metabolic Diseases 4395
      disease of metabolism 4395
        inherited metabolic disorder 1899
          carbohydrate metabolic disorder 327
            congenital disorder of glycosylation 105
              congenital disorder of glycosylation type I 59
                congenital disorder of glycosylation Iy 1
Path 2
Term Annotations click to browse term
  disease 15503
    Developmental Diseases 8880
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7677
        genetic disease 7166
          inherited metabolic disorder 1899
            carbohydrate metabolic disorder 327
              congenital disorder of glycosylation 105
                congenital disorder of glycosylation type I 59
                  congenital disorder of glycosylation Iy 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.