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: fumarase deficiency
Accession: DOID:0111261
browse the term
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. (DO)
Synonyms: exact_synonym: FMRD; fumarate hydratase deficiency; fumaric aciduria; fumaricaciduria
primary_id: MESH:C538191
alt_id: OMIM:606812
xref: GARD:6476 ; ORDO:24
G
Chml
CHM like Rab escort protein
ISO
ClinVar Annotator: match by term: Fumarase deficiency
ClinVar
PMID:11865300 PMID:12761039 PMID:21398687 PMID:22069215 PMID:28300276 PMID:28492532 More...
NCBI chr13:87,609,647...87,619,868
Ensembl chr13:87,589,298...87,619,862
G
Exo1
exonuclease 1
ISO
ClinVar Annotator: match by term: Fumarase deficiency
ClinVar
PMID:11865300 PMID:12761039 PMID:21398687 PMID:22069215 PMID:28300276 PMID:28492532 More...
NCBI chr13:87,809,725...87,834,654
Ensembl chr13:87,809,810...87,834,654
G
Fh
fumarate hydratase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Fumarase deficiency
OMIM CTD ClinVar
PMID:2314594 PMID:8200987 PMID:9300800 PMID:9536098 PMID:9635293 PMID:10896297 PMID:11865300 PMID:12761039 PMID:12772087 PMID:14632190 PMID:15221078 PMID:15663510 PMID:15761418 PMID:15937070 PMID:15987702 PMID:16151915 PMID:16199547 PMID:16510303 PMID:16575891 PMID:16597677 PMID:16639410 PMID:16876016 PMID:17182618 PMID:17270241 PMID:17392716 PMID:17576681 PMID:17960613 PMID:18176756 PMID:18313410 PMID:18366737 PMID:18503824 PMID:19151755 PMID:19183174 PMID:19339519 PMID:19939761 PMID:19967458 PMID:20301679 PMID:20549362 PMID:20618355 PMID:21398687 PMID:21404119 PMID:21445611 PMID:21447597 PMID:21520333 PMID:21560188 PMID:21630274 PMID:21733559 PMID:21904061 PMID:21929734 PMID:22069215 PMID:22127509 PMID:22382802 PMID:22595425 PMID:22703879 PMID:23211287 PMID:23612258 PMID:24182348 PMID:24334767 PMID:24346898 PMID:24441663 PMID:24728327 PMID:25004247 PMID:25637381 PMID:25741868 PMID:25852058 PMID:25923021 PMID:25985877 PMID:26113603 PMID:26173633 PMID:26467025 PMID:26580448 PMID:26700204 PMID:26900816 PMID:27037871 PMID:27541980 PMID:28196407 PMID:28300276 PMID:28371217 PMID:28400895 PMID:28492532 PMID:28592321 PMID:28747166 PMID:28825054 PMID:28873162 PMID:29052812 PMID:29423582 PMID:29456767 PMID:29641532 PMID:29893455 PMID:29909963 PMID:30050099 PMID:30548481 PMID:30741757 PMID:30761759 PMID:30877234 PMID:30967997 PMID:31444830 PMID:31636096 PMID:31746132 PMID:31794323 PMID:31831373 PMID:32008151 PMID:32012241 PMID:32371905 PMID:32612247 PMID:32782288 PMID:32808982 PMID:32999401 PMID:33052056 PMID:33125697 PMID:33166576 PMID:33362715 PMID:33397043 PMID:33439686 PMID:33789101 PMID:33858029 PMID:34337822 PMID:34643235 PMID:34994643 PMID:35993574 PMID:36773955 More...
NCBI chr13:87,524,331...87,550,215
Ensembl chr13:87,524,337...87,550,266
G
Kmo
kynurenine 3-monooxygenase
ISO
ClinVar Annotator: match by term: Fumarase deficiency
ClinVar
PMID:11865300 PMID:12761039 PMID:21398687 PMID:22069215 PMID:28300276 PMID:28492532 More...
NCBI chr13:87,557,080...87,589,334
Ensembl chr13:87,557,286...87,588,881
G
Opn3
opsin 3
ISO
ClinVar Annotator: match by term: Fumarase deficiency
ClinVar
PMID:11865300 PMID:12761039 PMID:21398687 PMID:22069215 PMID:28300276 PMID:28492532 More...
NCBI chr13:87,589,333...87,619,847
Ensembl chr13:87,589,333...87,619,847
G
Pld5
phospholipase D family, member 5
ISO
ClinVar Annotator: match by term: Fumarase deficiency
ClinVar
PMID:11865300 PMID:12761039 PMID:21398687 PMID:22069215 PMID:28300276 PMID:28492532 More...
NCBI chr13:87,895,694...88,232,868
Ensembl chr13:87,896,369...88,232,868
G
Wdr64
WD repeat domain 64
ISO
ClinVar Annotator: match by term: Fumarase deficiency
ClinVar
PMID:11865300 PMID:12761039 PMID:21398687 PMID:22069215 PMID:28300276 PMID:28492532 More...
NCBI chr13:87,624,588...87,746,749
Ensembl chr13:87,624,607...87,747,327
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all