Deafness, autosomal recessive 111

Preferred Label : Deafness, autosomal recessive 111;

Symbol : DFNB111;

CISMeF acronym : DFNB111;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the myelin protein zero-like 2 gene (MPZL2, 604873.0001);

Prefixed ID : #618145;

Details

Origin ID

618145;

UMLS CUI

C4748374;

Currated CISMeF NLP mapping
- autosomal recessive nonsyndromic deafness 111 [DO Concept]
DO Cross reference
- autosomal recessive nonsyndromic deafness 111 [DO Concept]
Genes related to phenotype
- Myelin protein zero-like 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Progressive 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]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients