Deafness, autosomal recessive 84a

Preferred Label : Deafness, autosomal recessive 84a;

Symbol : DFNB84A;

CISMeF acronym : DFNB84A; DFNB84;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Deafness, autosomal recessive 84a, with vestibular dysfunction; Deafness, autosomal recessive 84; DFNB84;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the protein-tyrosine phosphatase receptor-type, Q gene (PTPRQ, 603317.0001);

Prefixed ID : #613391;

Details

Origin ID

613391;

UMLS CUI

C3150654;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive non-syndromic sensorineural deafness type DFNB [ORDO Disease]
Currated CISMeF NLP mapping
- autosomal recessive nonsyndromic deafness 84A [DO Concept]
DO Cross reference
- autosomal recessive nonsyndromic deafness 84A [DO Concept]
Genes related to phenotype
- Protein-tyrosine phosphatase, receptor-type, q [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Hearing impairment [HPO term]
- Infantile onset [HPO term]
- Motor delay [HPO term]
- Vestibular dysfunction [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