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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;   RDO:0001045
 xref: GARD:4634;   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 Slc35c1 solute carrier family 35 member C1 JBrowse link 3 81,361,080 81,369,010 RGD:1599002
RGD:7240710
RGD:8554872

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Term Annotations click to browse term
  disease 15625
    Nutritional and Metabolic Diseases 4375
      disease of metabolism 4375
        inherited metabolic disorder 1862
          carbohydrate metabolic disorder 320
            congenital disorder of glycosylation 105
              congenital disorder of glycosylation type II 38
                congenital disorder of glycosylation type IIc 1
Path 2
Term Annotations click to browse term
  disease 15625
    Developmental Diseases 8759
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7543
        genetic disease 7038
          inherited metabolic disorder 1862
            carbohydrate metabolic disorder 320
              congenital disorder of glycosylation 105
                congenital disorder of glycosylation type II 38
                  congenital disorder of glycosylation type IIc 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.