FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term severe congenital encephalopathy due to MECP2 mutation ID (Ontology) DOID:0111932 (Human Disease)
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.
Also Known As "neonatal severe encephalopathy due to MECP2 mutations" ; "severe neonatal-onset encephalopathy with microcephaly"
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
    Results list data from multiple species. Click on a button above and use the 'Filter by species' options on the resulting HitList to retrieve species-specific data.
Records annotated with this exact term (annotations to child terms are NOT included)
Data Class Field Records
Human Disease Models (FBhh)  DOID       1
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
 Full annotation statements 
Relevant FlyBase reports
 Genes Human Disease Models
 severe congenital encephalopathy due to MECP2 mutation       1      1
 for disease ribbon | severe congenital encephalopathy due to MECP2 mutation       1       --
 model of | severe congenital encephalopathy due to MECP2 mutation       1       --
Spanning Tree (Parents/Children)
Only view relationship: 
X-linked monogenic disease
 |__X-linked recessive disease__
central nervous system disease  |
 |__brain disease_______________|
disease                         |
 |__physical disorder___________|
                                severe congenital encephalopathy due to MECP2 mutation  2 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a X-linked recessive disease
physical disorder
brain disease
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "neonatal severe encephalopathy due to MECP2 mutations" EXACT
    "severe neonatal-onset encephalopathy with microcephaly" EXACT
Secondary IDs
hide External Crossreferences & Linkouts
MESH:C566878
MIM:300673
NCI:C132293
ORDO:209370
SNOMEDCT_US_2023_03_01:711487002
UMLS_CUI:C1968556