loading...| Preferred Name |
fumarase deficiency |
|
| Synonyms |
FMRD fumaric aciduria |
|
| Definitions |
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. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_0111261 |
|
| alternative label |
FMRD fumaric aciduria |
|
| database_cross_reference |
UMLS_CUI:C2936826 MESH:C538191 UMLS_CUI:C0342770 OMIM:606812 SNOMEDCT_US_2023_03_01:237983002 GARD:6476 ORDO:24 |
|
| 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. |
|
| has exact synonym |
FMRD fumaric aciduria |
|
| has material basis in | ||
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0111261 |
|
| in_subset | ||
| label |
fumarase deficiency |
|
| notation |
DOID:0111261 |
|
| note |
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. |
|
| preferred label |
fumarase deficiency |
|
| prefLabel |
fumarase deficiency |
|
| textual 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. |
|
| subClassOf |