severe congenital encephalopathy due to MECP2 mutation Disease Ontology Browser

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Disease Ontology Browser

severe congenital encephalopathy due to MECP2 mutation (DOID:0111932)
Alliance: disease page
Synonyms: neonatal severe encephalopathy due to MECP2 mutations; severe neonatal-onset encephalopathy with microcephaly
Alt IDs: OMIM:300673, MESH:C566878, NCI:C132293, ORDO:209370, UMLS_CUI:C1968556
Definition: A brain disease characterized by severe neonatal encephalopathy, developmental delay, and microcephaly that has_material_basis_in hemizygous mutation in the MECP2 gene on chromosome Xq28.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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