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: DOID:9002387;   OMIM:266265;   RDO:0001045
 xref: GARD:4634;   ORDO:99843
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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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  disease 14875
    Nutritional and Metabolic Diseases 4249
      disease of metabolism 4249
        inherited metabolic disorder 1808
          carbohydrate metabolic disorder 302
            congenital disorder of glycosylation 83
              congenital disorder of glycosylation type II 37
                congenital disorder of glycosylation type IIc 1
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Term Annotations click to browse term
  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        genetic disease 5997
          inherited metabolic disorder 1808
            carbohydrate metabolic disorder 302
              congenital disorder of glycosylation 83
                congenital disorder of glycosylation type II 37
                  congenital disorder of glycosylation type IIc 1
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