Metadata | |
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ID | DOID:0110725 |
Name | neuronal ceroid lipofuscinosis 10 |
Definition | A neuronal ceroid lipofuscinosis that has_material_basis_in homozygous or compound heterozygous mutation in the CTSD gene on chromosome 11p15. https://www.ncbi.nlm.nih.gov/pubmed/16685649 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
Cathepsin D deficiency [EXACT] CLN10 [EXACT] neuronal ceroid lipofuscinosis cathepsin D-deficient [EXACT] neuronal ceroid lipofuscinosis due to cathepsin D deficiency [EXACT] |
Parent Relationships |