Deafness, autosomal recessive 30

Preferred Label : Deafness, autosomal recessive 30;

Symbol : DFNB30;

CISMeF acronym : DFNB30;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the myosin IIIA gene (MYO3A, 606808.0001);

Prefixed ID : #607101;

Details

Origin ID

607101;

UMLS CUI

C1846784;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive non-syndromic sensorineural deafness type DFNB [ORDO Disease]
- MYO3A wt Allele [NCIt concept]
- symbol withdrawn DFNB30 [HGNC gene]
Broader ORDO disease(s)
- Non-syndromic genetic deafness [ORDO Disease]
Currated CISMeF NLP mapping
- autosomal recessive nonsyndromic deafness 30 [DO Concept]
- deafness, autosomal recessive 30 [MeSH concept]
- deafness, autosomal recessive 30 [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive nonsyndromic deafness 30 [DO Concept]
Genes related to phenotype
- Myosin iiia [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Progressive hearing impairment [HPO term]
- Progressive 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 30 [MeSH Supplementary Concept]
- deafness, autosomal recessive 30 [MeSH concept]

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