Deafness, autosomal recessive 97

Preferred Label : Deafness, autosomal recessive 97;

Symbol : DFNB97;

CISMeF acronym : DFNB97;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the MET protooncogene gene (MET, 164860.0012);

Prefixed ID : #616705;

Details

Origin ID

616705;

UMLS CUI

C4084709;

CISMeF manual mappings
- autosomal recessive nonsyndromic deafness 97 [DO Concept]
DO Cross reference
- autosomal recessive nonsyndromic deafness 97 [DO Concept]
Genes related to phenotype
- Met protooncogene, receptor tyrosine kinase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Sensorineural hearing impairment [HPO term]
ORDO concept(s)
- Autosomal recessive non-syndromic sensorineural deafness type DFNB [ORDO Disease]
See also inter- (CISMeF)
- MET proto-oncogene, receptor tyrosine kinase [ORDO Gene]
- MET proto-oncogene, receptor tyrosine kinase [HGNC gene]
- MET wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- autosomal recessive nonsyndromic deafness 97 [DO Concept]

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