GABA aminotransferase deficiency

Human disease

MedicalCondition rare_disease Q18553705

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GABA aminotransferase deficiency

Summary

GABA aminotransferase deficiency is a rare disease^[1].

Key Facts

GABA aminotransferase deficiency's instance of is recorded as rare disease^[2].
GABA aminotransferase deficiency's instance of is recorded as class of disease^[3].
GABA aminotransferase deficiency's subclass of is recorded as gamma-amino butyric acid metabolism disorder^[4].
GABA aminotransferase deficiency's subclass of is recorded as disorder of beta and omega amino acid metabolism^[5].
GABA aminotransferase deficiency's subclass of is recorded as rare genetic epilepsy^[6].
GABA aminotransferase deficiency's subclass of is recorded as metabolic neurotransmission anomaly with epilepsy^[7].
GABA aminotransferase deficiency's subclass of is recorded as neurometabolic disease^[8].
GABA aminotransferase deficiency's MeSH descriptor ID is recorded as C535407^[9].
GABA aminotransferase deficiency's OMIM ID is recorded as 613163^[10].
GABA aminotransferase deficiency's KEGG ID is recorded as H01257^[11].
GABA aminotransferase deficiency's Disease Ontology ID is recorded as DOID:0060174^[12].
GABA aminotransferase deficiency's Orphanet ID is recorded as 2066^[13].
GABA aminotransferase deficiency's genetic association is recorded as ABAT^[14].
GABA aminotransferase deficiency's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060174^[15].
GABA aminotransferase deficiency's exact match is recorded as http://identifiers.org/doid/DOID:0060174^[16].
GABA aminotransferase deficiency's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_2066^[17].
GABA aminotransferase deficiency's UMLS CUI is recorded as C0342708^[18].
GABA aminotransferase deficiency's ICD-10-CM is recorded as E72.8^[19].
GABA aminotransferase deficiency's GARD rare disease ID is recorded as 194^[20].
GABA aminotransferase deficiency's on focus list of Wikimedia project is recorded as WikiProject Medicine^[21].
GABA aminotransferase deficiency's Mondo ID is recorded as MONDO_0013166^[22].
GABA aminotransferase deficiency's UniProt disease ID is recorded as DI-01641^[23].

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Quick Facts

Instance of rare disease, class of disease

Subclass of gamma-amino butyric acid metabolism disorder, disorder of beta and omega amino acid metabolism, rare genetic epilepsy, metabolic neurotransmission anomaly with epilepsy, neurometabolic disease

Properties

Exact match purl.obolibrary.org, identifiers.org, www.orpha.net

Genetic association ABAT

Imported from wholeness_audit_2026-05-02

On focus list of wikimedia project WikiProject Medicine

External References (10)

Disease ontology id DOID:0060174

Gard rare disease id 194

Icd-10-cm E72.8

Kegg id H01257

Mesh descriptor id C535407

Mondo id MONDO_0013166

Omim id 613163

Orphanet id 2066

Umls cui C0342708

Uniprot disease id DI-01641

References

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

Direct Wikidata claims

[2] ↑ GABA aminotransferase deficiency — instance of (P31): rare disease. wikidata.org.
[3] ↑ GABA aminotransferase deficiency — instance of (P31): class of disease. wikidata.org.
[4] ↑ GABA aminotransferase deficiency — subclass of (P279): gamma-amino butyric acid metabolism disorder. Disease Ontology. Retrieved 2020-11-29. wikidata.org.
[5] ↑ GABA aminotransferase deficiency — subclass of (P279): disorder of beta and omega amino acid metabolism. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[6] ↑ GABA aminotransferase deficiency — subclass of (P279): rare genetic epilepsy. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[7] ↑ GABA aminotransferase deficiency — subclass of (P279): metabolic neurotransmission anomaly with epilepsy. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[8] ↑ GABA aminotransferase deficiency — subclass of (P279): neurometabolic disease. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[9] ↑ GABA aminotransferase deficiency — MeSH descriptor ID (P486): C535407. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[10] ↑ GABA aminotransferase deficiency — OMIM ID (P492): 613163. Disease Ontology. Retrieved 2019-08-28. wikidata.org.
[11] ↑ GABA aminotransferase deficiency — KEGG ID (P665): H01257. wikidata.org.
[12] ↑ GABA aminotransferase deficiency — Disease Ontology ID (P699): DOID:0060174. Disease Ontology. Retrieved 2020-11-29. wikidata.org.
[13] ↑ GABA aminotransferase deficiency — Orphanet ID (P1550): 2066. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[14] ↑ GABA aminotransferase deficiency — genetic association (P2293): ABAT. Q905695. Retrieved 2019-08-13. platform.opentargets.org. Provenance: wikidata.org.
[15] ↑ GABA aminotransferase deficiency — exact match (P2888): http://purl.obolibrary.org/obo/DOID_0060174. Disease Ontology. Retrieved 2020-11-29. wikidata.org.
[16] ↑ GABA aminotransferase deficiency — exact match (P2888): http://identifiers.org/doid/DOID:0060174. Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
[17] ↑ GABA aminotransferase deficiency — exact match (P2888): http://www.orpha.net/ORDO/Orphanet_2066. wikidata.org.
[18] ↑ GABA aminotransferase deficiency — UMLS CUI (P2892): C0342708. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[19] ↑ GABA aminotransferase deficiency — ICD-10-CM (P4229): E72.8. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[20] ↑ GABA aminotransferase deficiency — GARD rare disease ID (P4317): 194. wikidata.org.
[21] ↑ GABA aminotransferase deficiency — on focus list of Wikimedia project (P5008): WikiProject Medicine. wikidata.org.
[22] ↑ GABA aminotransferase deficiency — Mondo ID (P5270): MONDO_0013166. wikidata.org.
[23] ↑ GABA aminotransferase deficiency — UniProt disease ID (P11430): DI-01641. wikidata.org.

Class ancestry

[1] ↑ GABA aminotransferase 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). GABA aminotransferase deficiency. Retrieved May 3, 2026, from https://4ort.xyz/entity/gaba-aminotransferase-deficiency

MLA

“GABA aminotransferase deficiency.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/gaba-aminotransferase-deficiency.

BibTeX

@misc{4ortxyz_gaba-aminotransferase-deficiency_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{GABA aminotransferase deficiency}}, year = {2026}, url = {https://4ort.xyz/entity/gaba-aminotransferase-deficiency}, note = {Accessed: 2026-05-03}}

LLM prompt

According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): GABA aminotransferase deficiency — https://4ort.xyz/entity/gaba-aminotransferase-deficiency (retrieved 2026-05-03)

Canonical URL: https://4ort.xyz/entity/gaba-aminotransferase-deficiency · Last refreshed: May 3, 2026