| Metadata | |
|---|---|
| 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 | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |