neuronal ceroid lipofuscinosis 10 - Ontology Report

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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:	neuronal ceroid lipofuscinosis 10	go back to main search page
Accession:	DOID:0110725	browse the term
Definition:	A neuronal ceroid lipofuscinosis that has_material_basis_in homozygous or compound heterozygous mutation in the CTSD gene on chromosome 11p15. (DO)
Synonyms:	exact_synonym:	CLN10; Ceroid Lipofuscinosis, Neuronal, Cathepsin D-Deficient; cathepsin D deficiency; congenital neuronal ceroid lipofuscinosis; neuronal ceroid lipofuscinosis due to cathepsin D deficiency
	narrow_synonym:	NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY NEURONAL CEROID LIPOFUSCINOSIS, CONGENITAL
	primary_id:	MESH:C566438
	alt_id:	OMIA:001505; OMIM:610127
	xref:	GARD:1218; ORDO:228337

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Genes (1)

neuronal ceroid lipofuscinosis 10

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Ctsd

cathepsin D

ISO
ISS

ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 10
CTD Direct Evidence: marker/mechanism
OMIM:610127

OMIM
ClinVar
CTD
MouseDO

PMID:10218883 PMID:16670177 PMID:16685649 PMID:24767253 PMID:25298308 More...

NCBI chr 1:197,527,467...197,539,343
Ensembl chr 1:197,527,467...197,539,488

Term paths to the root

Path 1
Term	Annotations
disease	21108
Nutritional and Metabolic Diseases	8116
disease of metabolism	8116
lipid metabolism disorder	1704
lipid storage disease	804
neuronal ceroid lipofuscinosis	213
neuronal ceroid lipofuscinosis 10	1
Path 2
Term	Annotations
disease	21108
Developmental Disease	18429
Congenital, Hereditary, and Neonatal Diseases and Abnormalities	18284
genetic disease	18227
inherited metabolic disorder	6170
lipid metabolism disorder	1704
lipid storage disease	804
neuronal ceroid lipofuscinosis	213
neuronal ceroid lipofuscinosis 10	1

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MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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RGD DISEASE ONTOLOGY - ANNOTATIONS