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 4 ID (Ontology) DOID:0060273 (Human Disease)
Definition A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypertonia, myoclonus, seizure and early lethality, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene.
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       2
Human Disease Models (FBhh)  DOID       4
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 Alleles Genes Human Disease Models
 pontocerebellar hypoplasia type 4       2      1      4
 for disease ribbon | pontocerebellar hypoplasia type 4       --       1       --
 model of | pontocerebellar hypoplasia type 4       2      1       --
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  neurodegenerative disease
   |__pontocerebellar hypoplasia
       |__pontocerebellar hypoplasia type 4  7 rec.
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Synonyms
Secondary IDs
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GARD:343
MESH:C536716
MIM:225753
ORDO:166063
SNOMEDCT_US_2023_03_01:718608006
UMLS_CUI:C1856974