Deafness, autosomal recessive 63

Preferred Label : Deafness, autosomal recessive 63;

Symbol : DFNB63;

CISMeF acronym : DFNB63;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the leucine-rich transmembrane O-methyltransferase gene (LRTOMT, 612414.0001);

Prefixed ID : #611451;

Details

Origin ID

611451;

UMLS CUI

C1969621;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive non-syndromic sensorineural deafness type DFNB [ORDO Disease]
Broader ORDO disease(s)
- Non-syndromic genetic deafness [ORDO Disease]
Currated CISMeF NLP mapping
- autosomal recessive nonsyndromic deafness 63 [DO Concept]
- deafness, autosomal recessive 63 [MeSH concept]
- deafness, autosomal recessive 63 [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive nonsyndromic deafness 63 [DO Concept]
Genes related to phenotype
- Leucine-rich transmembrane o-methyltransferase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Congenital onset [HPO term]
- Congenital sensorineural hearing impairment [HPO term]
Not associated HPO term(s)
- Abnormal electroretinogram [HPO term]
- Vestibular dysfunction [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 63 [MeSH Supplementary Concept]
- deafness, autosomal recessive 63 [MeSH concept]

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