Deafness, autosomal recessive 28

Preferred Label : Deafness, autosomal recessive 28;

Symbol : DFNB28;

CISMeF acronym : DFNB28;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the TRIO- and F-actin-binding protein (TRIOBP, 609761.0001);

Prefixed ID : #609823;

Details

Origin ID

609823;

UMLS CUI

C1853276;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive non-syndromic sensorineural deafness type DFNB [ORDO Disease]
Broader ORDO disease(s)
- Non-syndromic genetic deafness [ORDO Disease]
Currated CISMeF NLP mapping
- Deafness, Autosomal Recessive 28 [NCIt concept]
- autosomal recessive nonsyndromic deafness 28 [DO Concept]
- deafness, autosomal recessive 28 [MeSH concept]
- deafness, autosomal recessive 28 [MeSH Supplementary Concept]
- nonsyndromic sensorineural deafness autosomal recessive 28 [Disease (Nov.)]
DO Cross reference
- autosomal recessive nonsyndromic deafness 28 [DO Concept]
Genes related to phenotype
- Trio- and f-actin-binding protein [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bilateral sensorineural deafness [HPO term]
- Infantile onset [HPO term]
- Severe sensorineural hearing impairment [HPO term]
ORDO concept(s)
- Autosomal recessive non-syndromic sensorineural deafness type DFNB [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deafness, Autosomal Recessive 28 [NCIt concept]
- 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.)]

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