Deafness, autosomal recessive 106

Preferred Label : Deafness, autosomal recessive 106;

Symbol : DFNB106;

CISMeF acronym : DFNB106;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the EPS8-Like protein-2 gene (EPS8L2, 614988.0001);

Prefixed ID : #617637;

Details

Origin ID

617637;

UMLS CUI

C4539954;

Currated CISMeF NLP mapping
- autosomal recessive nonsyndromic deafness 106 [DO Concept]
DO Cross reference
- autosomal recessive nonsyndromic deafness 106 [DO Concept]
Genes related to phenotype
- Eps8-like protein 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- 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]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients