Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN8 gene. [ MONDO : patterns/disease_series_by_gene ]
This is just here as a test because I lose it
Term information
database
cross reference
- DOID:0110723 (MONDO:equivalentTo)
- SCTID:703526007 (MONDO:equivalentTo)
- Orphanet:228354 (OMIM:600143)
- OMIM:600143 (Orphanet:228354/e)
- MESH:C537952 (https://github.com/monarch-initiative/mondo/issues/2210)
Subsets
ordo_etiological_subtype
conformsTo
- http://purl.obolibrary.org/obo/mondo/patterns/specific_disease_by_dysfunctional_structure.yaml
definition
- Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN8 gene.
exactMatch
- http://identifiers.org/mesh/C537952
- http://www.orpha.net/ORDO/Orphanet_228354
- http://purl.obolibrary.org/obo/DOID_0110723
- https://omim.org/entry/600143
- http://identifiers.org/snomedct/703526007
has exact synonym
- neuronal ceroid lipofuscinosis 8
- ceroid lipofuscinosis, neuronal, type 8
- neuronal ceroid lipofuscinosis type 8
- CLN8
- neuronal ceroid lipofuscinosis caused by mutation in CLN8
- CLN8 neuronal ceroid lipofuscinosis
has related synonym
- CLN8 disease
- ceroid lipofuscinosis, neuronal, 8
id
- MONDO:0010830