| Metadata | |
|---|---|
| ID | DOID:0111679 |
| Name | glutamate formiminotransferase deficiency |
| 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. https://ghr.nlm.nih.gov/condition/glutamate-formiminotransferase-deficiency, https://www.ncbi.nlm.nih.gov/pubmed/12815595 |
| Xrefs |
SNOMEDCT_US_2023_03_01:59761008 |
| Subsets |
DO_rare_slim |
| Synonyms |
Arakawa syndrome 1 [EXACT] FIGLUria [EXACT] formiminoglutamic acidemia [EXACT] formiminoglutamic aciduria [EXACT] formiminotransferase cyclodeaminase deficiency [EXACT] formiminotransferase deficiency syndrome [EXACT] FTCD deficiency [EXACT] |
| Parent Relationships |