Deafness, Autosomal Recessive 28

Preferred Label : Deafness, Autosomal Recessive 28;

NCIt synonyms : DFNB28;

NCIt definition : An autosomal recessive disorder caused by mutations in the TRIOBP gene, encoding TRIO and F-actin-binding protein. The condition is characterized by severe to profound sensorineural hearing loss.;

Details

Origin ID

C129023;

UMLS CUI

C1853276;

Currated CISMeF NLP mapping
- Deafness, autosomal recessive 28 [OMIM Phenotype]
- autosomal recessive nonsyndromic deafness 28 [DO Concept]
- deafness, autosomal recessive 28 [MeSH Supplementary Concept]
- deafness, autosomal recessive 28 [MeSH concept]
- nonsyndromic sensorineural deafness autosomal recessive 28 [Disease (Nov.)]
Has associated anatomic sites
- Ear [NCIt concept]
- Head and Neck [NCIt concept]
See also inter- (CISMeF)
- TRIO and F-actin binding protein [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deafness, autosomal recessive 28 [OMIM Phenotype]
- autosomal recessive nonsyndromic deafness 28 [DO Concept]
- deafness, autosomal recessive 28 [MeSH Supplementary Concept]
- deafness, autosomal recessive 28 [MeSH concept]
- nonsyndromic sensorineural deafness autosomal recessive 28 [Disease (Nov.)]
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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