Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Term:
neuronal ceroid lipofuscinosis 10 (DOID:0110725)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
neuronal ceroid lipofuscinosis 1  
neuronal ceroid lipofuscinosis 10  
A neuronal ceroid lipofuscinosis that has_material_basis_in homozygous or compound heterozygous mutation in the CTSD gene on chromosome 11p15. (DO)
neuronal ceroid lipofuscinosis 11  
neuronal ceroid lipofuscinosis 13  
neuronal ceroid lipofuscinosis 2  
neuronal ceroid lipofuscinosis 3  
neuronal ceroid lipofuscinosis 4A  
neuronal ceroid lipofuscinosis 4B  
neuronal ceroid lipofuscinosis 5  
neuronal ceroid lipofuscinosis 6  
neuronal ceroid lipofuscinosis 7  
neuronal ceroid lipofuscinosis 8  
neuronal ceroid lipofuscinosis 8 northern epilepsy variant  
neuronal ceroid lipofuscinosis 9 

Synonyms
Exact Synonyms: CLN10 ;   Cathepsin D deficiency ;   Ceroid Lipofuscinosis, Neuronal, Cathepsin D-Deficient ;   Neuronal Ceroid Lipofuscinosis Due To Cathepsin D Deficiency ;   congenital neuronal ceroid lipofuscinosis
Narrow Synonyms: NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY NEURONAL CEROID LIPOFUSCINOSIS, CONGENITAL
Primary IDs: MESH:C566438
Alternate IDs: OMIA:001505 ;   OMIM:610127
Xrefs: GARD:1218 ;   ORDO:228337
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/16685649 "DO"

paths to the root