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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:glutamate formiminotransferase deficiency
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Accession:DOID:0111679 term browser browse the term
Definition:A vitamin metabolic disorder characterized by elevated formiminoglutamate in urine and plasma and variable intellectual, developmental, and hematological phenotypes that has_material_basis_in homozygous or compound heterozygous mutation in FTCD on chromosome 21q22.3. (DO)
Synonyms:exact_synonym: Arakawa syndrome 1;   FIGLU-Uria;   FIGLUria;   FTCD deficiency;   formiminoglutamic acidemia;   formiminoglutamic aciduria;   formiminoglutamicaciduria (FIGLU-uria);   formiminotransferase cyclodeaminase deficiency;   formiminotransferase deficiency;   formiminotransferase deficiency syndrome
 primary_id: MESH:C537425
 alt_id: OMIM:229100
 xref: GARD:9279;   ORDO:51208
For additional species annotation, visit the Alliance of Genome Resources.



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glutamate formiminotransferase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col6a2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: Glutamate formiminotransferase deficiency ClinVar PMID:18414213 PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr20:12,021,676...12,049,425
Ensembl chr20:12,021,767...12,057,564
JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Glutamate formiminotransferase deficiency OMIM
ClinVar
PMID:9536098 PMID:12815595 PMID:17576681 PMID:18414213 PMID:23757202 More... NCBI chr20:12,055,203...12,068,717
Ensembl chr20:12,055,208...12,068,735
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    Nutritional and Metabolic Diseases 6769
      disease of metabolism 6769
        inherited metabolic disorder 4673
          vitamin metabolic disorder 46
            glutamate formiminotransferase deficiency 2
Path 2
Term Annotations click to browse term
  disease 18154
    Developmental Disease 12988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11719
        genetic disease 11226
          monogenic disease 8779
            autosomal genetic disease 7817
              autosomal recessive disease 4835
                glutamate formiminotransferase deficiency 2
paths to the root