(Q55790902)

English

epileptic encephalopathy, early infantile, 54

human disease

EIEE54
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54; EIEE54

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infantile epileptic encephalopathy

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genetic association

HNRNPU

1 reference

stated in

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

exact match

http://www.orpha.net/ORDO/Orphanet_1934

0 references

Identifiers

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mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

close match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

close match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

inferred by common Orphanet mappings on source and on Wikidata

16 June 2023

0 references

(Q55790902)

epileptic encephalopathy, early infantile, 54

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