Neurodegeneration with Brain Iron Accumulation 4

Preferred Label : Neurodegeneration with Brain Iron Accumulation 4;

NCIt synonyms : NBIA4;

NCIt definition : A genetic condition associated with mutation(s) in the C19orf12 gene, encoding protein C19orf12. It is characterized by progressive spastic paraplegia, parkinsonism unresponsive to L-DOPA treatment, and psychiatric or behavioral symptoms.;

Details

Origin ID

C175707;

UMLS CUI

C3280371;

Automatic exact mappings (from CISMeF team)
- Mitochondrial membrane protein-associated neurodegeneration [ORDO Disease]
- chromosome 19 open reading frame 12 [ORDO Gene]
- chromosome 19 open reading frame 12 [HGNC gene]
Currated CISMeF NLP mapping
- Mitochondrial membrane protein associated neurodegeneration (disorder) [SNOMED CT concept]
- Neurodegeneration with brain iron accumulation 4 [OMIM Phenotype]
- neurodegeneration with brain iron accumulation 4 [DO Concept]
Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
See also inter- (CISMeF)
- Beta-propeller protein-associated neurodegeneration [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mitochondrial membrane protein associated neurodegeneration (disorder) [SNOMED CT concept]
- Neurodegeneration with brain iron accumulation 4 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- C19orf12 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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