FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term neuronal ceroid lipofuscinosis 10 ID (Ontology) DOID:0110725 (Human Disease)
Definition A neuronal ceroid lipofuscinosis that has_material_basis_in homozygous or compound heterozygous mutation in the CTSD gene on chromosome 11p15.
Also Known As "Cathepsin D deficiency" ; "CLN10" ; "neuronal ceroid lipofuscinosis cathepsin D-deficient" (for all, see Synonyms field below)
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)
Data Class Field Records
Human Disease Models (FBhh)  DOID       1
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 Human Disease Models
 neuronal ceroid lipofuscinosis 10       2      1
 for disease ribbon | neuronal ceroid lipofuscinosis 10       2       --
 model of | neuronal ceroid lipofuscinosis 10       2       --
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal genetic disease
 |__autosomal recessive disease_____
lipid storage disease               |
 |__neuronal ceroid lipofuscinosis__|
                                    neuronal ceroid lipofuscinosis 10  3 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a autosomal recessive disease
neuronal ceroid lipofuscinosis
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "Cathepsin D deficiency" EXACT
    "CLN10" EXACT OMO:0003012
    "neuronal ceroid lipofuscinosis cathepsin D-deficient" EXACT
    "neuronal ceroid lipofuscinosis due to cathepsin D deficiency" EXACT
Secondary IDs
hide External Crossreferences & Linkouts
GARD:1218
ICD10CM:E75.4
MIM:610127
ORDO:228337