(Q55782469)

English

severe neonatal-onset encephalopathy with microcephaly

human disease

Severe congenital encephalopathy due to MECP2 mutation
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
severe congenital encephalopathy due to MECP2 mutation

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Statements

0 references

0 references

neonatal epilepsy syndrome

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0010397

monogenic disease with epilepsy

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

29 November 2020

X-linked recessive disease

1 reference

29 November 2020

2 references

Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000169057/MONDO_0010397

based on heuristic

inferred from an Open Targets association score over 0.7

NCI Thesaurus ID

C132293

0 references

exact match

http://www.orpha.net/ORDO/Orphanet_209370

0 references

http://purl.obolibrary.org/obo/DOID_0111932

1 reference

29 November 2020

http://identifiers.org/doid/DOID:0111932

1 reference

stated in

Identifiers.org

reference URL

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

Identifiers

MeSH descriptor ID

C566878

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

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

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

mapping relation type

exact 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

stated in

UMLS 2023

retrieved

16 June 2023

(Q55782469)

severe neonatal-onset encephalopathy with microcephaly

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