FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term pontocerebellar hypoplasia type 2B ID (Ontology) DOID:0060268 (Human Disease)
Definition A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, clonus, dysphagia and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN2 gene.
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)
No relevant records available
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
 pontocerebellar hypoplasia type 2B       1
 for disease ribbon | pontocerebellar hypoplasia type 2B       1
 model of | pontocerebellar hypoplasia type 2B       1
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal genetic disease
 |__autosomal recessive disease________
pontocerebellar hypoplasia             |
 |__pontocerebellar hypoplasia type 2__|
                                       pontocerebellar hypoplasia type 2B  1 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a autosomal recessive disease
pontocerebellar hypoplasia type 2
Part of
hide Synonyms & Secondary IDs
Synonyms
Secondary IDs
hide External Crossreferences & Linkouts
MESH:C567325
MIM:612389
ORDO:2524
UMLS_CUI:C2676466