(Q18553705)

English

GABA aminotransferase deficiency

Human disease

Gamma-amino butyric acid transaminase deficiency
gamma-aminobutyric acid transaminase deficiency
GABA transaminase deficiency
GABA-TRANSAMINASE DEFICIENCY

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Statements

0 references

0 references

gamma-amino butyric acid metabolism disorder

1 reference

29 November 2020

disorder of beta and omega amino acid metabolism

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0013166

rare genetic epilepsy

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0013166

metabolic neurotransmission anomaly with epilepsy

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0013166

neurometabolic disease

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0013166

on focus list of Wikimedia project

WikiProject Medicine

0 references

exact match

http://purl.obolibrary.org/obo/DOID_0060174

1 reference

29 November 2020

http://identifiers.org/doid/DOID:0060174

1 reference

stated in

Identifiers.org

reference URL

https://registry.identifiers.org/registry/doid

http://www.orpha.net/ORDO/Orphanet_2066

0 references

Identifiers

MeSH descriptor ID

C535407

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

1 reference

29 November 2020

0 references

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

1 reference

28 August 2019

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

(Q18553705)

GABA aminotransferase deficiency

Statements

Identifiers

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