X-Linked Deafness-4

Preferred Label : X-Linked Deafness-4;

NCIt synonyms : DFNX4;

NCIt definition : An X-linked dominant condition caused by mutation (s) in the SMPX gene, encoding small muscular protein. It is characterized by progressive sensorineural hearing loss.;

Details

Origin ID

C180844;

UMLS CUI

C1848204;

Currated CISMeF NLP mapping
- Deafness, X-linked 4 [OMIM Phenotype]
- X-linked deafness 4 [DO Concept]
- deafness, X-Linked 4 [MeSH Supplementary Concept]
- deafness, X-Linked 4 [MeSH concept]
Has associated anatomic sites
- Ear [NCIt concept]
- Head and Neck [NCIt concept]
See also inter- (CISMeF)
- small muscle protein X-linked [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deafness, X-linked 4 [OMIM Phenotype]
- deafness, X-Linked 4 [MeSH Supplementary Concept]
- deafness, X-Linked 4 [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- SMPX Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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