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ONTOLOGY REPORT - ANNOTATIONS


Term:congenital disorder of glycosylation type IIc
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Accession:DOID:0070255 term browser browse the term
Definition:A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of SLC35C1 on chromosome 11p11.2. (DO)
Comment:Note: FEB 2019: per https://github.com/DiseaseOntology/HumanDiseaseOntology/issues/648 DOID:0080492 (leukocyte adhesion deficiency 2) and DOID:0070255 (congenital disorder of glycosylation type IIc) are two different diseases.
Synonyms:exact_synonym: CDG IIc;   CDG2C;   CDGIIc;   RHS;   Rambam Hasharon syndrome;   congenital disorder of glycosylation type 2C
 primary_id: MESH:C535755
 alt_id: OMIM:266265
 xref: GARD:4634;   NCI:C4690;   ORDO:99843
For additional species annotation, visit the Alliance of Genome Resources.


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congenital disorder of glycosylation type IIc term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cry2 cryptochrome circadian regulator 2 JBrowse link 3 81,314,151 81,344,143 RGD:8554872
G Mapk8ip1 mitogen-activated protein kinase 8 interacting protein 1 JBrowse link 3 81,295,023 81,304,181 RGD:8554872
G Pex16 peroxisomal biogenesis factor 16 JBrowse link 3 81,283,137 81,292,575 RGD:8554872
G RGD1563263 similar to RIKEN cDNA 1700029I15 JBrowse link 3 81,294,275 81,295,027 RGD:8554872
G Slc35c1 solute carrier family 35 member C1 JBrowse link 3 81,361,080 81,369,010 RGD:1599002
RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 0
    Nutritional and Metabolic Diseases 4632
      disease of metabolism 4632
        inherited metabolic disorder 2177
          carbohydrate metabolic disorder 384
            congenital disorder of glycosylation 119
              congenital disorder of glycosylation type II 47
                congenital disorder of glycosylation type IIc 5
Path 2
Term Annotations click to browse term
  disease 15992
    Developmental Diseases 9280
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8094
        genetic disease 7612
          inherited metabolic disorder 2177
            carbohydrate metabolic disorder 384
              congenital disorder of glycosylation 119
                congenital disorder of glycosylation type II 47
                  congenital disorder of glycosylation type IIc 5
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.