FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term encephalopathy due to defective mitochondrial and peroxisomal fission 1 ID (Ontology) DOID:0070347 (Human Disease)
Definition A syndrome that has_material_basis_in heterozygous mutation in the DNM1L gene, and is characterized by delayed psychomotor development and has_symptom hypotonia that may lead to death in childhood.
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       3
Human Disease Models (FBhh)  DOID       1
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 Alleles Genes Human Disease Models
 encephalopathy due to defective mitochondrial and peroxisomal fission 1       5      2      1
 for disease ribbon | encephalopathy due to defective mitochondrial and peroxisomal fission 1       --       1       --
 model of | encephalopathy due to defective mitochondrial and peroxisomal fission 1       4      1       --
 DOES NOT model | encephalopathy due to defective mitochondrial and peroxisomal fission 1       2       --       --
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       |__encephalopathy due to defective mitochondrial and peroxisomal fission 1  8 rec.
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MIM:614388