CLN3 lysosomal/endosomal transmembrane protein, battenin

Preferred Label : CLN3 lysosomal/endosomal transmembrane protein, battenin;

Approved symbol HGNC : CLN3;

Name synonyms HGNC : juvenile neuronal ceroid lipofuscinosis;

Alias symbols HGNC : BTN1; JNCL;

Chromosome HGNC : 16p12.1;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000188603;

Détails

Origin ID

HGNC:2074;

UMLS CUI

C1413495;

Automatic exact mappings (from CISMeF team)
- CLN3 lysosomal/endosomal transmembrane protein, battenin [ORDO Gene]
- Ceroid lipofuscinosis, neuronal, 3 [OMIM Phenotype]
- Cln3 lysosomal/endosomal transmembrane protein, battenin [OMIM gene]
- Juvenile neuronal ceroid lipofuscinosis [ORDO Disease]
- Juvenile neuronal ceroid lipofuscinosis [ICD-11 More detail]
- Juvenile neuronal ceroid lipofuscinosis [MedDRA LLT]
- Juvenile neuronal ceroid lipofuscinosis (disorder) [SNOMED CT concept]
- juvenile neuronal ceroid lipofuscinosis [MeSH concept]
- juvenile neuronal ceroid lipofuscinosis [SNOMED Notion]
- neuronal ceroid lipofuscinosis 3 [DO Concept]
- neuronal ceroid-lipofuscinoses [MeSH Descriptor]
NCIt concept
- CLN3 Gene [NCIt concept]
OMIM gene
- Cln3 lysosomal/endosomal transmembrane protein, battenin [OMIM gene]
Orphanet gene
- CLN3 lysosomal/endosomal transmembrane protein, battenin [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- CLN3 Gene [NCIt concept]
- CLN3 gene [LOINC component]
- Cln3 lysosomal/endosomal transmembrane protein, battenin [OMIM gene]

Position du mot-clé dans l'(les) arborescence(s) :

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