Neuronal Ceroid Lipofuscinosis Type 11

Preferred Label : Neuronal Ceroid Lipofuscinosis Type 11;

NCIt synonyms : CLN11;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the GRN gene, encoding progranulin. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.;

NCI Metathesaurus CUI : CL1793115;

Details

Origin ID

C188214;

UMLS CUI

C3539123;

Automatic exact mappings (from CISMeF team)
- granulin precursor [ORDO Gene]
Currated CISMeF NLP mapping
- Ceroid lipofuscinosis, neuronal, 11 [OMIM Phenotype]
- neuronal ceroid lipofuscinosis 11 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ceroid lipofuscinosis, neuronal, 11 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- GRN Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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