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Statements

Subject Item
dbr:MECP
dbo:wikiPageWikiLink
dbr:MECP2_duplication_syndrome
dbo:wikiPageDisambiguates
dbr:MECP2_duplication_syndrome
Subject Item
dbr:MECP2_duplication_syndrome
rdf:type
dbo:Disease wikidata:Q12136 owl:Thing
rdfs:label
MECP2 duplication syndrome
rdfs:comment
MECP2 duplication syndrome (M2DS) is a rare disease that is characterized by severe intellectual disability and impaired motor function. It is an X-linked genetic disorder caused by the overexpression of MeCP2 protein.
foaf:name
MECP2 duplication syndrome
dbp:name
MECP2 duplication syndrome
foaf:depiction
n12:Protein_MECP2_PDB_1qk9.png
dcterms:subject
dbc:Chromosome_instability_syndromes dbc:Gene_expression dbc:Autosomal_duplications dbc:Disorders_causing_seizures
dbo:wikiPageID
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dbo:wikiPageRevisionID
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dbo:wikiPageWikiLink
dbr:X-linked_intellectual_disability dbr:Rett_syndrome dbr:Medical_genetics dbr:Epilepsy dbr:Comparative_Genomic_Hybridization dbr:MeCP2 dbr:X-linked_recessive_inheritance dbr:Human_Mutation dbr:Huda_Zoghbi dbr:Overexpression dbr:Syndromic_facies dbr:Antisense_therapy dbc:Chromosome_instability_syndromes dbr:Gait dbr:Psychomotor_learning dbr:X_chromosome dbr:Gastrointestinal_motility dbc:Gene_expression dbc:Autosomal_duplications dbr:Nature_magazine dbr:Autism dbr:Baylor_College_of_Medicine dbr:Spasticity dbc:Disorders_causing_seizures dbr:Rare_disease dbr:Hypotonia
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n12:Protein_MECP2_PDB_1qk9.png?width=300
dbp:diseasesdb
ddb34533
dbp:icd
Q87.8
dbp:omim
300260
dbp:orphanet
85281
dbp:caption
This condition is due to MECP2 overexpression
dbp:field
dbr:Medical_genetics
dbp:synonyms
X-linked intellectual disability-hypotonia-recurrent Infections syndrome
dbo:abstract
MECP2 duplication syndrome (M2DS) is a rare disease that is characterized by severe intellectual disability and impaired motor function. It is an X-linked genetic disorder caused by the overexpression of MeCP2 protein.
dbp:mesh
537723.0
gold:hypernym
n17:039;
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Q87.8
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85281
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