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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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.


show annotations for term's descendants           Sort by:
 
congenital disorder of glycosylation type IIc term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cry2 cryptochrome circadian regulator 2 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:81,314,151...81,344,143
Ensembl chr 3:81,314,149...81,344,110
JBrowse link
G Mapk8ip1 mitogen-activated protein kinase 8 interacting protein 1 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:81,295,023...81,304,181
Ensembl chr 3:81,295,024...81,304,181
JBrowse link
G Pex16 peroxisomal biogenesis factor 16 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:81,283,137...81,292,575
Ensembl chr 3:81,283,137...81,292,573
JBrowse link
G RGD1563263 similar to RIKEN cDNA 1700029I15 ISO ClinVar Annotator: match by term: Rambam Hasharon syndrome ClinVar PMID:28492532 NCBI chr 3:81,294,275...81,295,027
Ensembl chr 3:81,294,275...81,295,027
JBrowse link
G Slc35c1 solute carrier family 35 member C1 ISO DNA:missense mutations:cds:p.R147C, p.T308R (human)
ClinVar Annotator: match by term: Rambam Hasharon syndrome
ClinVar Annotator: match by OMIM:266265
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2C
ClinVar
OMIM
PMID:1279426 PMID:11213799 PMID:11326279 PMID:11326280 PMID:12116250 PMID:23806237 PMID:24033266 PMID:24403049 PMID:25326637 PMID:25741868 PMID:28492532, PMID:11326280 RGD:1599002 NCBI chr 3:81,361,080...81,369,010
Ensembl chr 3:81,361,056...81,368,442
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    physical disorder 2526
      congenital disorder of glycosylation 124
        congenital disorder of glycosylation type II 47
          congenital disorder of glycosylation type IIc 5
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          inherited metabolic disorder 2255
            carbohydrate metabolic disorder 398
              congenital disorder of glycosylation 124
                congenital disorder of glycosylation type II 47
                  congenital disorder of glycosylation type IIc 5
paths to the root