Deafness, autosomal recessive 66

Preferred Label : Deafness, autosomal recessive 66;

Symbol : DFNB66;

CISMeF acronym : DFNB66;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the doublecortin domain-containing protein 2 gene (DCDC2, 605755.0004);

Prefixed ID : #610212;

Details

Origin ID

610212;

UMLS CUI

C1857750;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive non-syndromic sensorineural deafness type DFNB [ORDO Disease]
Currated CISMeF NLP mapping
- autosomal recessive nonsyndromic deafness 66 [DO Concept]
- deafness, autosomal recessive 66 [MeSH concept]
- deafness, autosomal recessive 66 [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive nonsyndromic deafness 66 [DO Concept]
Genes related to phenotype
- Doublecortin domain-containing protein 2 [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]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- deafness, autosomal recessive 66 [MeSH Supplementary Concept]
- deafness, autosomal recessive 66 [MeSH concept]

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