ceroid lipofuscinosis, neuronal, 2

Preferred Label : ceroid lipofuscinosis, neuronal, 2;

MeSH note : mutation on tripeptidyl-peptidase 1;

MeSH synonym : ceroid lipofuscinosis, neuronal, 2, variable age at onset;

Détails

Origin ID

C566857;

UMLS CUI

C1876161;

Currated CISMeF NLP mapping
- CLN2 disease [ORDO Disease]
- Ceroid lipofuscinosis, neuronal, 2 [OMIM Phenotype]
- Neuronal Ceroid Lipofuscinosis Type 2 [NCIt concept]
- neuronal ceroid lipofuscinosis 2 [DO Concept]
MeSH term(s) associated for indexing
- neuronal ceroid-lipofuscinoses [MeSH Descriptor]
Record concept(s)
- ceroid lipofuscinosis, neuronal, 2 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CLN2 disease [ORDO Disease]
- Ceroid lipofuscinosis, neuronal, 2 [OMIM Phenotype]
- neuronal ceroid lipofuscinosis 2 [DO Concept]

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

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