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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 the FTCD gene 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


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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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:12815595 PMID:16199547 PMID:17576681 PMID:18414213 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 18969
    Nutritional and Metabolic Diseases 8247
      disease of metabolism 8247
        inherited metabolic disorder 6257
          vitamin metabolic disorder 52
            glutamate formiminotransferase deficiency 2
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13417
        genetic disease 13036
          monogenic disease 10420
            autosomal genetic disease 9578
              autosomal recessive disease 6657
                glutamate formiminotransferase deficiency 2
paths to the root