OBO ID: DOID:0110725
Term Name: neuronal ceroid lipofuscinosis 10 Search Ontology:
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)
OTHER neuronal ceroid lipofuscinosis 10 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CTSD Ceroid lipofuscinosis, neuronal, 10 610127
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (1)