Search Ontology:
Human Disease

neuronal ceroid lipofuscinosis 10

Term ID
DOID:0110725
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. https://www.ncbi.nlm.nih.gov/pubmed/16685649
References
Ontology
Human Disease   ( DOID:0110725 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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