Neuronal Ceroid Lipofuscinosis Type 5

Preferred Label : Neuronal Ceroid Lipofuscinosis Type 5;

NCIt synonyms : CLN5;

NCIt definition : An autosomal recessive subtype of neuronal ceroid lipofuscinosis caused, by mutation(s) in the CLN5 gene, encoding ceroid-lipofuscinosis neuronal protein 5.;

NCI Metathesaurus CUI : CL1905619;

Details

Origin ID

C192090;

UMLS CUI

C1850442;

Currated CISMeF NLP mapping
- Ceroid lipofuscinosis, neuronal 5 [MeSH concept]
- Ceroid lipofuscinosis, neuronal, 5 [OMIM Phenotype]
- ceroid lipofuscinosis, neuronal 5 [MeSH Supplementary Concept]
- neuronal ceroid lipofuscinosis 5 [DO Concept]
See also inter- (CISMeF)
- CLN5 intracellular trafficking protein [ORDO Gene]
- Cln5 intracellular trafficking protein [OMIM gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CLN5 disease [ORDO Disease]
- Ceroid lipofuscinosis, neuronal 5 [MeSH concept]
- Ceroid lipofuscinosis, neuronal, 5 [OMIM Phenotype]
- ceroid lipofuscinosis, neuronal 5 [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- CLN5 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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