fumarase deficiency

rare disease

Class type of: metabolic disease, neurometabolic disease, mitochondrial disease with peripheral neuropathy Q2823337

Facts

9 properties

Instance of: rare disease, class of disease^[6]
Subclass of: metabolic disease, neurometabolic disease, mitochondrial disease with peripheral neuropathy, mitochondrial disease with epilepsy, tricarboxylic acid cycle disorder, autosomal recessive disease, amino acid metabolic disorder, developmental defect during embryogenesis^[7]^[8]^[9]^[10]
Age of onset: infantile onset, neonatal onset^[14]^[15]
Genetic association: FH^[13]
Has phenotype: agenesis of the corpus callosum, intrahepatic cholestasis, hypertelorism, lissencephaly, ascites, Wikidata item, Wikidata item, necrotizing enterocolitis, polycythemia, Congenital cerebral hypomyelination, Wikidata item, lactic acidosis^[17]^[18]^[19]^[20]^[21]^[22]^[23]^[24]^[25]^[26]^[27]^[28]
ICD-9-CM: 282.3^[12]
On focus list of Wikimedia project: WikiProject Medicine^[16]
P14914: D00024^[29]
Prevalence: +0.000001^[11]

🏷️ Also known as

en fumaric aciduria en Fumaric Aciduria en FMRD en fumarase deficiency en Fumarase deficiency en FUMARASE DEFICIENCY; FMRD ar عوز الفوماراز de Fumarazidurie fr acidurie fumarique id Defisiensi fumarase it Aciduria fumarica it Deficit di fumarasi

🔖 Identifiers · 17

Disease Ontology ID: DOID:0111261
DiseasesDB: 29835
Exact match: purl.obolibrary.org, identifiers.org
Freebase ID: /m/0c95kh
GARD rare disease ID: 6476
Genetics Home Reference Conditions ID: fumarase-deficiency
ICD-10-CM: E88.8
KEGG ID: H02004
MeSH descriptor ID: C538191
Microsoft Academic ID (discontinued): 2778570182, 2909455262
Mondo ID: MONDO_0011730
OMIM ID: 606812

Show all 17 identifiers +5

Orphanet ID: 24
SNOMED CT ID: 237983002
UMLS CUI: C0342770, C2936826
UniProt disease ID: DI-01638
WikiProjectMed ID: Fumarase deficiency

Report an error or request removal Lineage (PROV-JSON)

🔗 Connections

Instance of 1

rare disease

On focus list of Wikimedia project 1

WikiProject Medicine

Subclass of 1

metabolic disease

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Summary

fumarase deficiency is a rare disease^[1]. It is a type of metabolic disease^[2], neurometabolic disease^[3], mitochondrial disease with peripheral neuropathy^[4], and mitochondrial disease with epilepsy^[5].

References

Programmatic citations — every numbered marker resolves to a verifiable graph row below.

Direct Wikidata claims

[6] ↑ fumarase deficiency — instance of (P31): class of disease. wikidata.org.
[2] ↑ fumarase deficiency — subclass of (P279): metabolic disease. wikidata.org.
[3] ↑ fumarase deficiency — subclass of (P279): neurometabolic disease. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[4] ↑ fumarase deficiency — subclass of (P279): mitochondrial disease with peripheral neuropathy. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[5] ↑ fumarase deficiency — subclass of (P279): mitochondrial disease with epilepsy. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[7] ↑ fumarase deficiency — subclass of (P279): tricarboxylic acid cycle disorder. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[8] ↑ fumarase deficiency — subclass of (P279): autosomal recessive disease. Disease Ontology. Retrieved 2022-01-18. wikidata.org.
[9] ↑ fumarase deficiency — subclass of (P279): amino acid metabolic disorder. Disease Ontology. Retrieved 2022-01-18. wikidata.org.
[10] ↑ fumarase deficiency — subclass of (P279): developmental defect during embryogenesis. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[11] ↑ fumarase deficiency — prevalence (P1193): 0.000001. Retrieved 2026-10-23. wikidata.org.
[12] ↑ fumarase deficiency — ICD-9-CM (P1692): 282.3. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[13] ↑ fumarase deficiency — genetic association (P2293): FH. UniProt. Retrieved 2019-08-13. platform.opentargets.org. Provenance: wikidata.org.
[14] ↑ fumarase deficiency — age of onset (P2841): infantile onset. Retrieved 2026-10-23. wikidata.org.
[15] ↑ fumarase deficiency — age of onset (P2841): neonatal onset. Retrieved 2026-10-23. wikidata.org.
[16] ↑ fumarase deficiency — on focus list of Wikimedia project (P5008): WikiProject Medicine. wikidata.org.
[17] ↑ fumarase deficiency — has phenotype (P6532): agenesis of the corpus callosum. Retrieved 2026-10-23. wikidata.org.
[18] ↑ fumarase deficiency — has phenotype (P6532): intrahepatic cholestasis. Retrieved 2026-10-23. wikidata.org.
[19] ↑ fumarase deficiency — has phenotype (P6532): hypertelorism. Retrieved 2026-10-23. wikidata.org.
[20] ↑ fumarase deficiency — has phenotype (P6532): lissencephaly. Retrieved 2026-10-23. wikidata.org.
[21] ↑ fumarase deficiency — has phenotype (P6532): ascites. Retrieved 2026-10-23. wikidata.org.
[22] ↑ fumarase deficiency — has phenotype (P6532): Q141816010. Retrieved 2026-10-23. wikidata.org.
[23] ↑ fumarase deficiency — has phenotype (P6532): Q141816059. Retrieved 2026-10-23. wikidata.org.
[24] ↑ fumarase deficiency — has phenotype (P6532): necrotizing enterocolitis. Retrieved 2026-10-23. wikidata.org.
[25] ↑ fumarase deficiency — has phenotype (P6532): polycythemia. Retrieved 2026-10-23. wikidata.org.
[26] ↑ fumarase deficiency — has phenotype (P6532): Congenital cerebral hypomyelination. Retrieved 2026-10-23. wikidata.org.
[27] ↑ fumarase deficiency — has phenotype (P6532): Q141816321. Retrieved 2026-10-23. wikidata.org.
[28] ↑ fumarase deficiency — has phenotype (P6532): lactic acidosis. Retrieved 2026-10-23. wikidata.org.
[29] ↑ fumarase deficiency — P14914 (P14914): D00024. wikidata.org.

Class ancestry

[1] ↑ fumarase deficiency is an instance of rare disease (Q929833) [P31, primary]. Wikidata. wikidata.org.

📑 Cite this page

Use these citations when quoting this entity in research, articles, AI prompts, or wherever provenance matters. We aggregate Wikidata + Wikipedia + authoritative open-data sources; the stitched, scored, cross-referenced view is what 4ort.xyz contributes.

APA

4ort.xyz Knowledge Graph. (2026). fumarase deficiency. Retrieved November 3, 2026, from https://4ort.xyz/entity/fumarase-deficiency

MLA “fumarase deficiency.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 Nov. 2026, https://4ort.xyz/entity/fumarase-deficiency.

BibTeX

@misc{4ortxyz_fumarase-deficiency_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{fumarase deficiency}}, year = {2026}, url = {https://4ort.xyz/entity/fumarase-deficiency}, note = {Accessed: 2026-11-03}}

LLM prompt

According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): fumarase deficiency — https://4ort.xyz/entity/fumarase-deficiency (retrieved 2026-11-03)

Canonical URL: https://4ort.xyz/entity/fumarase-deficiency · Last refreshed: November 3, 2026

Edit History

Rolling log of changes to this entity's Wikidata record. Values shown reflect the current state of each edited property — follow the history link to see the precise diff for any edit.

12d ago · ACorrêa (WMB) · 2026-10-23 view diff on Wikidata ↗

Prevalence → {'amount': '+0.000001'}

Wikipedia languages → ['ar', 'de', 'en', 'fr', 'id', 'it']

Age of onset → infantile onset, neonatal onset

Has phenotype → agenesis of the corpus callosum, intrahepatic cholestasis, hypertelorism +9

+ 2 other properties edited (see Wikidata diff for full list)

"/* wbeditentity-update-languages-and-other-short:0||pt, pt-br */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/61469|batch #61469]]: Raras.org data import"
17w ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗

Genetic association → FH

Subclass of → —

Instance of → rare disease, class of disease

Instance of → —

+ 3 other properties edited (see Wikidata diff for full list)

"/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39742|batch #39742]]: subclass of disease, not instance"

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