X-Linked Deafness-5, with Peripheral Neuropathy

Preferred Label : X-Linked Deafness-5, with Peripheral Neuropathy;

NCIt synonyms : DFNX5;

NCIt definition : An X-linked recessive condition caused by mutation (s) in the AIFM1 gene, encoding apoptosis-inducing factor 1, mitochondrial . It is characterized by auditory neuropathy, followed by peripheral neuropathy.;

Details

Origin ID

C180843;

UMLS CUI

C1845095;

Currated CISMeF NLP mapping
- Deafness, X-linked 5, with peripheral neuropathy [OMIM Phenotype]
- X-linked deafness 5 [DO Concept]
- deafness, X-Linked 5 [MeSH Supplementary Concept]
- deafness, X-Linked 5 [MeSH concept]
Has associated anatomic sites
- Ear [NCIt concept]
- Head and Neck [NCIt concept]
See also inter- (CISMeF)
- apoptosis inducing factor mitochondria associated 1 [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deafness, X-linked 5, with peripheral neuropathy [OMIM Phenotype]
- deafness, X-Linked 5 [MeSH Supplementary Concept]
- deafness, X-Linked 5 [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- AIFM1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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