Deafness, autosomal dominant 73

Preferred Label : Deafness, autosomal dominant 73;

Symbol : DFNA73;

CISMeF acronym : DFNA73;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the protein-tyrosine phosphatase receptor-type, Q gene (PTPRQ, 603317.0003);

Prefixed ID : #617663;

Details

Origin ID

617663;

UMLS CUI

C4540024;

Currated CISMeF NLP mapping
- autosomal dominant nonsyndromic deafness 73 [DO Concept]
DO Cross reference
- autosomal dominant nonsyndromic deafness 73 [DO Concept]
Genes related to phenotype
- Protein-tyrosine phosphatase, receptor-type, q [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Hearing impairment [HPO term]
ORDO concept(s)
- Autosomal dominant non-syndromic sensorineural deafness type DFNA [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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