FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term autosomal recessive intellectual developmental disorder 82 ID (Ontology) DOID:0060947 (Human Disease)
Definition An autosomal recessive intellectual developmental disorder characterized by global developmental delay with motor and speech delay, variably impaired intellectual development, and behavioral abnormalities has_material_basis_in homozygous mutation in the NSUN6 gene on chromosome 10p12.
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
 autosomal recessive intellectual developmental disorder 82       1      1
 for disease ribbon | autosomal recessive intellectual developmental disorder 82       1       --
 model of | autosomal recessive intellectual developmental disorder 82       1       --
Spanning Tree (Parents/Children)
Only view relationship:
autosomal recessive disease__
intellectual disability______|
                             autosomal recessive intellectual developmental disorder
                              |__autosomal recessive intellectual developmental disorder 82  2 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a autosomal recessive intellectual developmental disorder
Part of
hide Synonyms & Secondary IDs
Synonyms
Secondary IDs
hide External Crossreferences & Linkouts
MIM:620779