Term Name: | neuronal ceroid lipofuscinosis 10 |
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Synonyms: | Cathepsin D deficiency, CLN10, neuronal ceroid lipofuscinosis cathepsin D-deficient, neuronal ceroid lipofuscinosis due to cathepsin D deficiency |
Definition: | A neuronal ceroid lipofuscinosis that has_material_basis_in homozygous or compound heterozygous mutation in the CTSD gene on chromosome 11p15. |
Ontology: | Human Disease [DOID:0110725] ( DOID:0110725 ) |