Deafness, autosomal recessive 4, with enlarged vestibular aqueduct

Preferred Label : Deafness, autosomal recessive 4, with enlarged vestibular aqueduct;

Symbol : DFNB4;

CISMeF acronym : DFNB4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : NSRD4; DVA; Neurosensory nonsyndromic recessive deafness 4; Dilated vestibular aqueduct;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the solute carrier family 26, member 4 gene (SLC26A4, 605646.0004);

Prefixed ID : #600791;

Détails

Origin ID

600791;

UMLS CUI

C3538946;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive non-syndromic sensorineural deafness type DFNB [ORDO Disease]
- Dilatation of the vestibular aqueduct (disorder) [SNOMED CT concept]
CISMeF manual mappings
- Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct [NCIt concept]
Currated CISMeF NLP mapping
- Deafness, Autosomal Recessive 4 [MeSH Supplementary Concept]
- Enlarged vestibular aqueduct [HPO term]
- autosomal recessive nonsyndromic deafness 4 [DO Concept]
- enlarged vestibular aqueduct [Disease (Nov.)]
- enlarged vestibular aqueduct [DO Concept]
- enlarged vestibular aqueduct [MeSH concept]
DO Cross reference
- autosomal recessive nonsyndromic deafness 4 [DO Concept]
False automatic mappings
- Vindesine [NCIt concept]
Genes related to phenotype
- Forkhead box i1 [OMIM gene]
- Potassium channel, inwardly rectifying, subfamily j, member 10 [OMIM gene]
- Solute carrier family 26, member 4 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bilateral sensorineural deafness [HPO term]
- Enlarged vestibular aqueduct [HPO term]
- Incomplete partition of the cochlea type II [HPO term]
- Sensorineural hearing impairment [HPO term]
ORDO concept(s)
- Autosomal recessive non-syndromic sensorineural deafness type DFNB [ORDO Disease]
See also inter- (CISMeF)
- symbol withdrawn DFNB4 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deafness, Autosomal Recessive 4 [MeSH Supplementary Concept]
- Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct [NCIt concept]
- autosomal recessive nonsyndromic deafness 4 [DO Concept]

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