3-hydroxy-3-methylglutaryl-CoA synthase deficiency

MedicalCondition rare_disease Q55783430

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3-hydroxy-3-methylglutaryl-CoA synthase deficiency

Summary

3-hydroxy-3-methylglutaryl-CoA synthase deficiency is a rare disease^[1].

Key Facts

3-hydroxy-3-methylglutaryl-CoA synthase deficiency's instance of is recorded as rare disease^[2].
3-hydroxy-3-methylglutaryl-CoA synthase deficiency's instance of is recorded as class of disease^[3].
3-hydroxy-3-methylglutaryl-CoA synthase deficiency's subclass of is recorded as disorder of fatty acid oxidation and ketogenesis^[4].
3-hydroxy-3-methylglutaryl-CoA synthase deficiency's MeSH descriptor ID is recorded as C567784^[5].
3-hydroxy-3-methylglutaryl-CoA synthase deficiency's OMIM ID is recorded as 605911^[6].
3-hydroxy-3-methylglutaryl-CoA synthase deficiency's KEGG ID is recorded as H01123^[7].
3-hydroxy-3-methylglutaryl-CoA synthase deficiency's Orphanet ID is recorded as 35701^[8].
3-hydroxy-3-methylglutaryl-CoA synthase deficiency's genetic association is recorded as HMGCS2^[9].
3-hydroxy-3-methylglutaryl-CoA synthase deficiency's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_35701^[10].
3-hydroxy-3-methylglutaryl-CoA synthase deficiency's UMLS CUI is recorded as C2751532^[11].
3-hydroxy-3-methylglutaryl-CoA synthase deficiency's UMLS CUI is recorded as C4510940^[12].
3-hydroxy-3-methylglutaryl-CoA synthase deficiency's ICD-10-CM is recorded as E71.3^[13].
3-hydroxy-3-methylglutaryl-CoA synthase deficiency's Mondo ID is recorded as MONDO_0011614^[14].
3-hydroxy-3-methylglutaryl-CoA synthase deficiency's UniProt disease ID is recorded as DI-01751^[15].

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Quick Facts

Instance of rare disease, class of disease

Subclass of disorder of fatty acid oxidation and ketogenesis

Properties

Exact match www.orpha.net

Genetic association HMGCS2

Imported from wholeness_audit_2026-05-02

External References (8)

Icd-10-cm E71.3

Kegg id H01123

Mesh descriptor id C567784

Mondo id MONDO_0011614

Omim id 605911

Orphanet id 35701

Umls cui C2751532, C4510940

Uniprot disease id DI-01751

References

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

Direct Wikidata claims

[2] ↑ 3-hydroxy-3-methylglutaryl-CoA synthase deficiency — instance of (P31): rare disease. wikidata.org.
[3] ↑ 3-hydroxy-3-methylglutaryl-CoA synthase deficiency — instance of (P31): class of disease. wikidata.org.
[4] ↑ 3-hydroxy-3-methylglutaryl-CoA synthase deficiency — subclass of (P279): disorder of fatty acid oxidation and ketogenesis. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[5] ↑ 3-hydroxy-3-methylglutaryl-CoA synthase deficiency — MeSH descriptor ID (P486): C567784. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[6] ↑ 3-hydroxy-3-methylglutaryl-CoA synthase deficiency — OMIM ID (P492): 605911. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[7] ↑ 3-hydroxy-3-methylglutaryl-CoA synthase deficiency — KEGG ID (P665): H01123. wikidata.org.
[8] ↑ 3-hydroxy-3-methylglutaryl-CoA synthase deficiency — Orphanet ID (P1550): 35701. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[9] ↑ 3-hydroxy-3-methylglutaryl-CoA synthase deficiency — genetic association (P2293): HMGCS2. Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: clinical course and description of causal mutations in two patients. Retrieved 2020-12-08. search.clinicalgenome.org. Provenance: wikidata.org.
[10] ↑ 3-hydroxy-3-methylglutaryl-CoA synthase deficiency — exact match (P2888): http://www.orpha.net/ORDO/Orphanet_35701. wikidata.org.
[11] ↑ 3-hydroxy-3-methylglutaryl-CoA synthase deficiency — UMLS CUI (P2892): C2751532. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[12] ↑ 3-hydroxy-3-methylglutaryl-CoA synthase deficiency — UMLS CUI (P2892): C4510940. UMLS 2023. Retrieved 2023-06-16. wikidata.org.
[13] ↑ 3-hydroxy-3-methylglutaryl-CoA synthase deficiency — ICD-10-CM (P4229): E71.3. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[14] ↑ 3-hydroxy-3-methylglutaryl-CoA synthase deficiency — Mondo ID (P5270): MONDO_0011614. wikidata.org.
[15] ↑ 3-hydroxy-3-methylglutaryl-CoA synthase deficiency — UniProt disease ID (P11430): DI-01751. wikidata.org.

Class ancestry

[1] ↑ 3-hydroxy-3-methylglutaryl-CoA synthase 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). 3-hydroxy-3-methylglutaryl-CoA synthase deficiency. Retrieved May 3, 2026, from https://4ort.xyz/entity/3-hydroxy-3-methylglutaryl-coa-synthase-deficiency

MLA

“3-hydroxy-3-methylglutaryl-CoA synthase deficiency.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/3-hydroxy-3-methylglutaryl-coa-synthase-deficiency.

BibTeX

@misc{4ortxyz_3-hydroxy-3-methylglutaryl-coa-synthase-deficiency_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{3-hydroxy-3-methylglutaryl-CoA synthase deficiency}}, year = {2026}, url = {https://4ort.xyz/entity/3-hydroxy-3-methylglutaryl-coa-synthase-deficiency}, note = {Accessed: 2026-05-03}}

LLM prompt

According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): 3-hydroxy-3-methylglutaryl-CoA synthase deficiency — https://4ort.xyz/entity/3-hydroxy-3-methylglutaryl-coa-synthase-deficiency (retrieved 2026-05-03)

Canonical URL: https://4ort.xyz/entity/3-hydroxy-3-methylglutaryl-coa-synthase-deficiency · Last refreshed: May 3, 2026