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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 If
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Accession:DOID:0080558 term browser browse the term
Definition:A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies and has_material_basis_in homozygous or compound heterozygous mutation in the MPDU1 gene on chromosome 17p13. (DO)
Synonyms:exact_synonym: CDG If;   CDG1F;   CDGIf;   congenital disorder of glycosylation 1f;   congenital disorder of glycosylation type 1F;   congenital disorder of glycosylation, type IF
 primary_id: MESH:C535744
 alt_id: OMIM:609180;   RDO:0001033
 xref: GARD:9832;   NCI:C126872;   ORDO:79323


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congenital disorder of glycosylation If term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MPDU1 mannose-P-dolichol utilization defect 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1F OMIM
ClinVar		 PMID:11733556 PMID:11733564 PMID:16199547 PMID:25741868 PMID:25954003 More... NCBI chr 5:32,504,644...32,507,903
Ensembl chr 5:32,504,695...32,507,291 		JBrowse link
G SOX15 SRY-box transcription factor 15 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1F ClinVar NCBI chr 5:32,507,869...32,509,763
Ensembl chr 5:32,508,074...32,509,333 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    physical disorder 4879
      congenital disorder of glycosylation 538
        congenital disorder of glycosylation type I 266
          congenital disorder of glycosylation If 2
Path 2
Term Annotations click to browse term
  disease 17773
    Developmental Disease 17564
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17452
        genetic disease 17430
          inherited metabolic disorder 5527
            carbohydrate metabolic disorder 2718
              congenital disorder of glycosylation 538
                congenital disorder of glycosylation type I 266
                  congenital disorder of glycosylation If 2
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