Giant Axonal Neuropathy

Preferred Label : Giant Axonal Neuropathy;

NCIt definition : A rare inherited disorder affecting the neurofilaments. It is caused by mutations in the GAN gene. It is characterized by the presence of abnormally large nerve cell axons. Signs and symptoms include difficulty walking, sensory disturbances, lack of motor coordination and abnormal reflexes in the limbs.;

Details

Origin ID

C84728;

UMLS CUI

C5200933;

Automatic exact mappings (from CISMeF team)
- Giant axonal neuropathy [ICD-11 More detail]
- Giant axonal neuropathy [OMIM phenotypic series]
Currated CISMeF NLP mapping
- Giant axonal neuropathy [PASCAL descriptor]
- Giant axonal neuropathy [ORDO Disease]
- Giant axonal neuropathy (disorder) [SNOMED CT concept]
- Giant axonal neuropathy 1, autosomal recessive [OMIM Phenotype]
- giant axonal neuropathy [Disease (Nov.)]
- giant axonal neuropathy [MeSH Descriptor]
- giant axonal neuropathy [MeSH concept]
- giant axonal neuropathy 1 [DO Concept]
Has associated anatomic sites
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Giant axonal neuropathy [ORDO Disease]
- Giant axonal neuropathy [PASCAL descriptor]
- Giant axonal neuropathy (disorder) [SNOMED CT concept]
- Giant axonal neuropathy 1, autosomal recessive [OMIM Phenotype]
- giant axonal neuropathy [Disease (Nov.)]
- giant axonal neuropathy [MeSH concept]
- giant axonal neuropathy [MeSH Descriptor]
- giant axonal neuropathy 1 [DO Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_has_primary_anatomic_site
- Nervous System [NCIt concept]
disease_mapped_to_gene
- GAN Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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