Deafness, autosomal recessive 57

Preferred Label : Deafness, autosomal recessive 57;

Symbol : DFNB57;

CISMeF acronym : DFNB57;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the PDZ domain-containing 7 gene (PDZD7, 612971.0003);

Prefixed ID : #618003;

Details

Origin ID

618003;

UMLS CUI

C4693893;

Currated CISMeF NLP mapping
- autosomal recessive nonsyndromic deafness 57 [DO Concept]
DO Cross reference
- autosomal recessive nonsyndromic deafness 57 [DO Concept]
Genes related to phenotype
- Pdz domain-containing 7 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Hearing impairment [HPO term]
- Sensorineural hearing impairment [HPO term]
Not associated HPO term(s)
- Abnormal retinal morphology [HPO term]
- Vestibular dysfunction [HPO term]
- Visual impairment [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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