FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term neuronal ceroid lipofuscinosis 13 ID (Ontology) DOID:0110727 (Human Disease)
Definition A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death and has_material_basis_in homozygous or compound heterozygous mutation in the CTSF gene on chromosome 11q13.
Also Known As "CLN13" ; "neuronal ceroid lipofuscinosis 13 Kufs type"
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 Genes
 neuronal ceroid lipofuscinosis 13       2
 for disease ribbon | neuronal ceroid lipofuscinosis 13       2
 model of | neuronal ceroid lipofuscinosis 13       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease_____
lipid storage disease               |
 |__neuronal ceroid lipofuscinosis__|
                                    neuronal ceroid lipofuscinosis 13  2 rec.
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Is a autosomal recessive disease
neuronal ceroid lipofuscinosis
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Synonyms
  • "CLN13" EXACT OMO:0003012
    "neuronal ceroid lipofuscinosis 13 Kufs type" EXACT
Secondary IDs
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ICD10CM:E75.4
MIM:615362
ORDO:352709