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Metadata
ID DOID:0111261
Name fumarase deficiency
Definition An amino acid metabolic disorder characterized by metabolic acidosis, elevated levels of fumaric acid in the urine, early-onset hypotonia, profound psychomotor retardation, and brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in FH on 1q43.
https://www.ncbi.nlm.nih.gov/pubmed/22069215, https://www.ncbi.nlm.nih.gov/pubmed/8200987
Xrefs

GARD:6476

MESH:C538191

OMIM:606812

ORDO:24

SNOMEDCT_US_2023_03_01:237983002

UMLS_CUI:C0342770

UMLS_CUI:C2936826

Subsets

DO_rare_slim

Synonyms

FMRD [EXACT]

fumaric aciduria [EXACT]

Parent Relationships

is_a amino acid metabolic disorder

is_a autosomal recessive disease

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