Neurodegeneration with Brain Iron Accumulation 5

Preferred Label : Neurodegeneration with Brain Iron Accumulation 5;

NCIt synonyms : Beta-propeller Protein-associated Neurodegeneration; NBIA5; BPAN;

NCIt definition : An X-linked dominant condition caused by mutation(s) in the WDR45 gene, encoding WD repeat domain phosphoinositide-interacting protein 4. it is characterized by global developmental delay in early childhood, and subsequent dystonia and dementia in young adulthood.;

Details

Origin ID

C175210;

UMLS CUI

C3550973;

Automatic exact mappings (from CISMeF team)
- Mitochondrial membrane protein-associated neurodegeneration [ORDO Disease]
- WD repeat domain 45 [ORDO Gene]
- WD repeat domain 45 [HGNC gene]
Currated CISMeF NLP mapping
- Beta-propeller protein-associated neurodegeneration [ORDO Disease]
- Beta-propeller protein-associated neurodegeneration (disorder) [SNOMED CT concept]
- Neurodegeneration with brain iron accumulation 5 [OMIM Phenotype]
- neurodegeneration with brain iron accumulation 5 [DO Concept]
Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Beta-propeller protein-associated neurodegeneration (disorder) [SNOMED CT concept]
- Neurodegeneration with brain iron accumulation 5 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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