Deafness and myopia

Preferred Label : Deafness and myopia;

Symbol : DFNMYP;

CISMeF acronym : DFNMYP;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the SLIT- and NTRK-like family, member-6 gene (SLITRK6, 609681.0001);

Prefixed ID : #221200;

Details

Origin ID

221200;

UMLS CUI

C3806275;

Automatic exact mappings (from CISMeF team)
- High myopia-sensorineural deafness syndrome [ORDO Disease]
- SLITRK6 wt Allele [NCIt concept]
- high myopia-sensorineural deafness syndrome [DO Concept]
Currated CISMeF NLP mapping
- deafness, cochlear, with myopia and intellectual impairment [MeSH concept]
- deafness, cochlear, with myopia and intellectual impairment [MeSH Supplementary Concept]
DO Cross reference
- high myopia-sensorineural deafness syndrome [DO Concept]
Genes related to phenotype
- Slit- and ntrk-like family, member 6 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bilateral sensorineural deafness [HPO term]
- Conductive hearing impairment [HPO term]
- Hematuria [HPO term]
- High myopia [HPO term]
- Intellectual disability [HPO term]
- Myopia [HPO term]
- Profound hearing impairment [HPO term]
- Proteinuria [HPO term]
ORDO concept(s)
- High myopia-sensorineural deafness syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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