Deafness, autosomal recessive 77

Preferred Label : Deafness, autosomal recessive 77;

Symbol : DFNB77;

CISMeF acronym : DFNB77;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the lipoxygenase homology domains-containing 1 gene (LOXHD1, 613072.0001);

Prefixed ID : #613079;

Details

Origin ID

613079;

UMLS CUI

C2746083;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive non-syndromic sensorineural deafness type DFNB [ORDO Disease]
Currated CISMeF NLP mapping
- autosomal recessive nonsyndromic deafness 77 [DO Concept]
- deafness, autosomal recessive 77 [MeSH concept]
- deafness, autosomal recessive 77 [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive nonsyndromic deafness 77 [DO Concept]
Genes related to phenotype
- Lipoxygenase homology domain-containing 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bilateral sensorineural hearing impairment [HPO term]
Not associated HPO term(s)
- Tinnitus [HPO term]
- Vestibular dysfunction [HPO term]
ORDO concept(s)
- Autosomal recessive non-syndromic sensorineural deafness type DFNB [ORDO Disease]
See also inter- (CISMeF)
- symbol withdrawn DFNB77 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- deafness, autosomal recessive 77 [MeSH Supplementary Concept]
- deafness, autosomal recessive 77 [MeSH concept]

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