Neuronal Ceroid Lipofuscinosis Type 4B

Preferred Label : Neuronal Ceroid Lipofuscinosis Type 4B;

NCIt synonyms : Autosomal Dominant Kufs Disease; CLN4B; Neuronal Ceroid Lipofuscinosis, Parry Type;

NCIt definition : A condition associated with mutation(s) in the DNAJC5 gene, encoding dnaJ homolog subfamily C member 5. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.;

Details

Origin ID

C128116;

UMLS CUI

C4284284;

Currated CISMeF NLP mapping
- Ceroid Lipofuscinosis, Neuronal, 4B, Autosomal Dominant [MeSH concept]
- Ceroid lipofuscinosis, neuronal, 4 (kufs type) [OMIM Phenotype]
- neuronal ceroid lipofuscinosis 4B [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to BTNT
- neuronal ceroid-lipofuscinoses [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- DNAJC5 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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