FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term pontocerebellar hypoplasia type 2A ID (Ontology) DOID:0060267 (Human Disease)
Definition A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, chorea, epilepsy and hyperreflexia, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene.
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 Genes
 pontocerebellar hypoplasia type 2A       1
 for disease ribbon | pontocerebellar hypoplasia type 2A       1
 model of | pontocerebellar hypoplasia type 2A       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease________
pontocerebellar hypoplasia             |
 |__pontocerebellar hypoplasia type 2__|
                                       pontocerebellar hypoplasia type 2A  1 rec.
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Is a autosomal recessive disease
pontocerebellar hypoplasia type 2
Part of
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Synonyms
Secondary IDs
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GARD:10705
GARD:3631
MESH:C564738
MIM:277470
ORDO:2524
UMLS_CUI:C1848526