Deafness, autosomal recessive 42

Preferred Label : Deafness, autosomal recessive 42;

Symbol : DFNB42;

CISMeF acronym : DFNB42;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the immunoglobulin-like domain-containing receptor 1 gene (ILDR1, 609739.0001).;

Prefixed ID : #609646;

Details

Origin ID

609646;

UMLS CUI

C1864818;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive non-syndromic sensorineural deafness type DFNB [ORDO Disease]
Currated CISMeF NLP mapping
- autosomal recessive nonsyndromic deafness 42 [DO Concept]
- deafness, autosomal recessive 42 [MeSH concept]
- deafness, autosomal recessive 42 [MeSH Supplementary Concept]
- nonsyndromic sensorineural deafness autosomal recessive 42 [Disease (Nov.)]
DO Cross reference
- autosomal recessive nonsyndromic deafness 42 [DO Concept]
Genes related to phenotype
- Immunoglobulin-like domain-containing receptor 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bilateral sensorineural deafness [HPO term]
- Infantile onset [HPO term]
- Nonprogressive [HPO term]
- 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)
- autosomal recessive nonsyndromic deafness 42 [DO Concept]
- deafness, autosomal recessive 42 [MeSH Supplementary Concept]
- deafness, autosomal recessive 42 [MeSH concept]
- nonsyndromic sensorineural deafness autosomal recessive 42 [Disease (Nov.)]

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