Behr Syndrome - CISMeF

Preferred Label : Behr Syndrome;

NCIt synonyms : BEHRS;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the OPA1 gene, encoding dynamin-like 120 kDa protein, mitochondrial. It is characterized by optic atrophy and neurological features, which may include ophthalmoparesis, nystagmus, spastic paraparesis, ataxia, peripheral neuropathy and learning difficulties.;

Détails

Origin ID

C177251;

UMLS CUI

C0221061;

Currated CISMeF NLP mapping
- Behr syndrome [OMIM Phenotype]
- Behr syndrome [DO Concept]
- Behr syndrome [ORDO Disease]
- Behr syndrome [MeSH concept]
- Behr syndrome [PASCAL descriptor]
- behr syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Abortive cerebellar ataxia (disorder) [Inactive SNOMED CT concept]
- Behr syndrome [OMIM Phenotype]
- Behr syndrome [MeSH concept]
- Behr syndrome [DO Concept]
- Behr syndrome [ORDO Disease]
- Behr syndrome (disorder) [Inactive SNOMED CT concept]
- abortive cerebellar ataxia [SNOMED Notion]
- behr syndrome [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_mapped_to_gene
- OPA1 Gene [NCIt concept]

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

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