(Q55345900)

English

ITPA-related encephalopathy

human disease

Epileptic Encephalopathy, Early Infantile, 35
EIEE35
Epileptic Encephalopathy, Early Infantile, type 35

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Statements

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class of disease

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nervous system heredodegenerative disease

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

neurometabolic disease

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

inborn disorder of purine metabolism

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

other metabolic disease with epilepsy

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

genetic association

1 reference

Recessive ITPA mutations cause an early infantile encephalopathy

http://www.orpha.net/ORDO/Orphanet_457375

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Identifiers

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

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mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

UniProt disease ID

0 references

Sitelinks

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