Deafness, autosomal recessive 39

Preferred Label : Deafness, autosomal recessive 39;

Symbol : DFNB39;

CISMeF acronym : DFNB39;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the hepatic growth factor gene (HGF, 142409.0001);

Prefixed ID : #608265;

Details

Origin ID

608265;

UMLS CUI

C1842342;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive non-syndromic sensorineural deafness type DFNB [ORDO Disease]
Currated CISMeF NLP mapping
- Deafness, Autosomal Recessive 39 [NCIt concept]
- autosomal recessive nonsyndromic deafness 39 [DO Concept]
- deafness, autosomal recessive 39 [MeSH concept]
- deafness, autosomal recessive 39 [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive nonsyndromic deafness 39 [DO Concept]
Genes related to phenotype
- Hepatocyte growth factor [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bilateral sensorineural deafness [HPO term]
- Prelingual sensorineural hearing impairment [HPO term]
ORDO concept(s)
- Autosomal recessive non-syndromic sensorineural deafness type DFNB [ORDO Disease]
See also inter- (CISMeF)
- HGF wt Allele [NCIt concept]
- symbol withdrawn DFNB39 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deafness, Autosomal Recessive 39 [NCIt concept]
- autosomal recessive nonsyndromic deafness 39 [DO Concept]
- deafness, autosomal recessive 39 [MeSH Supplementary Concept]
- deafness, autosomal recessive 39 [MeSH concept]

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