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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 chr20:12,773,472...12,801,179
Ensembl chr20:12,773,427...12,801,180
JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY
ClinVar Annotator: match by OMIM:229100
OMIM
ClinVar
PMID:12815595 PMID:18414213 PMID:23757202 PMID:24088041 PMID:24801232 PMID:25741868 PMID:26467025 PMID:26633545 PMID:28492532 PMID:29178637 PMID:29869163 NCBI chr20:12,806,957...12,820,466
Ensembl chr20:12,806,957...12,820,466
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    Nutritional and Metabolic Diseases 4702
      disease of metabolism 4702
        inherited metabolic disorder 2233
          vitamin metabolic disorder 37
            glutamate formiminotransferase deficiency 2
Path 2
Term Annotations click to browse term
  disease 16092
    Developmental Diseases 9588
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8436
        genetic disease 7958
          monogenic disease 5739
            autosomal genetic disease 4756
              autosomal recessive disease 2617
                glutamate formiminotransferase deficiency 2
paths to the root