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ONTOLOGY REPORT - ANNOTATIONS


Term:congenital disorder of glycosylation Ip
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Accession:DOID:0080567 term browser browse the term
Definition:A congenital disorder of glycosylation I that is characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding and has_material_basis_in homozygous or compound heterozygous mutation in the ALG11 gene on chromosome 13q14. (DO)
Synonyms:exact_synonym: CDG1P;   Congenital Disorder of Glycosylation Type 1P;   Congenital Disorder of Glycosylation, Type Ip;   congenital disorder of glycosylation 1p
 primary_id: OMIM:613661
 alt_id: DOID:9005763;   RDO:0009931
 xref: GARD:12396;   ORDO:280071
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congenital disorder of glycosylation Ip term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alg11 ALG11, alpha-1,2-mannosyltransferase JBrowse link 16 74,854,007 74,866,096 RGD:7240710
RGD:8554872
G Atp7b ATPase copper transporting beta JBrowse link 16 74,865,516 74,944,935 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15599
    Nutritional and Metabolic Diseases 4365
      disease of metabolism 4365
        inherited metabolic disorder 1858
          carbohydrate metabolic disorder 321
            congenital disorder of glycosylation 105
              congenital disorder of glycosylation type I 59
                congenital disorder of glycosylation Ip 2
Path 2
Term Annotations click to browse term
  disease 15599
    Developmental Diseases 8726
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7507
        genetic disease 6997
          inherited metabolic disorder 1858
            carbohydrate metabolic disorder 321
              congenital disorder of glycosylation 105
                congenital disorder of glycosylation type I 59
                  congenital disorder of glycosylation Ip 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.