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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:fumarase deficiency
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Accession:DOID:0111261 term browser 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
For additional species annotation, visit the Alliance of Genome Resources.

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fumarase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 NCBI chr13:93,740,759...93,742,624 JBrowse link
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 NCBI chr13:93,936,989...93,962,749
Ensembl chr13:93,939,022...93,960,342 		JBrowse link
G Fh fumarate hydratase ISO ClinVar Annotator: match by term: Fumarase deficiency
ClinVar Annotator: match by term: Fumaric aciduria
ClinVar Annotator: match by OMIM:606812
ClinVar Annotator: match by term: Fumarate Hydratase Deficiency		 OMIM
ClinVar		 PMID:2314594 PMID:8007976 PMID:8200987 PMID:9300800 PMID:9635293 PMID:9665847 PMID:10896297 PMID:11585823 PMID:11865300 PMID:12761039 PMID:12772087 PMID:14632190 PMID:15221078 PMID:15663510 PMID:15761418 PMID:15937070 PMID:15987702 PMID:16029320 PMID:16151915 PMID:16206287 PMID:16237213 PMID:16288654 PMID:16309500 PMID:16403393 PMID:16510303 PMID:16575891 PMID:16597677 PMID:16639410 PMID:16757530 PMID:16876016 PMID:16881969 PMID:17182618 PMID:17270241 PMID:17392716 PMID:17768033 PMID:17960613 PMID:18176756 PMID:18313410 PMID:18366737 PMID:18503824 PMID:18514489 PMID:19151755 PMID:19339519 PMID:19470762 PMID:19939761 PMID:19967458 PMID:20231875 PMID:20549362 PMID:20618355 PMID:21051878 PMID:21304509 PMID:21340633 PMID:21398687 PMID:21404119 PMID:21445611 PMID:21447597 PMID:21520333 PMID:21560188 PMID:21630274 PMID:21733559 PMID:21904061 PMID:21929734 PMID:22069215 PMID:22086304 PMID:22127509 PMID:22243733 PMID:22382802 PMID:22473397 PMID:22528940 PMID:22561013 PMID:22565324 PMID:22595425 PMID:22703879 PMID:22764886 PMID:23203078 PMID:23211287 PMID:23320739 PMID:23612258 PMID:24182348 PMID:24334767 PMID:24346898 PMID:24419633 PMID:24441663 PMID:24625422 PMID:24684806 PMID:24728327 PMID:25004247 PMID:25292446 PMID:25326637 PMID:25477250 PMID:25525159 PMID:25613812 PMID:25637381 PMID:25741868 PMID:25750977 PMID:25852058 PMID:25913776 PMID:25923021 PMID:25985877 PMID:26023681 PMID:26173633 PMID:26323704 PMID:26457356 PMID:26574848 PMID:26700204 PMID:26900816 PMID:26983443 PMID:27037871 PMID:27541980 PMID:28196407 PMID:28266706 PMID:28300276 PMID:28492532 PMID:28747166 PMID:28825054 PMID:28873162 PMID:29423582 PMID:29456767 PMID:29909963 PMID:30050099 PMID:30548481 PMID:30761759 PMID:30967997 PMID:31444830 PMID:31746132 NCBI chr13:93,651,486...93,677,371
Ensembl chr13:93,651,484...93,677,377 		JBrowse link
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 NCBI chr13:93,684,324...93,715,378
Ensembl chr13:93,684,437...93,716,227 		JBrowse link
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 NCBI chr13:93,716,481...93,746,994
Ensembl chr13:93,716,481...93,746,994 		JBrowse link
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 NCBI chr13:94,025,696...94,355,219
Ensembl chr13:94,025,369...94,355,219 		JBrowse link
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 NCBI chr13:93,751,754...93,874,149
Ensembl chr13:93,751,759...93,874,105 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    Nutritional and Metabolic Diseases 4704
      disease of metabolism 4704
        inherited metabolic disorder 2235
          amino acid metabolic disorder 432
            fumarase deficiency 7
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          monogenic disease 5742
            autosomal genetic disease 4757
              autosomal recessive disease 2616
                fumarase deficiency 7
paths to the root