Deafness, autosomal recessive 7

Preferred Label : Deafness, autosomal recessive 7;

Symbol : DFNB7;

CISMeF acronym : DFNB11; DFNB7;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : DFNB11; Deafness, autosomal recessive 11;

Inheritance : Autosomal recessive.;

Prefixed ID : #600974;

Details

Origin ID

600974;

UMLS CUI

C1832978;

Broader ORDO disease(s)
- Non-syndromic genetic deafness [ORDO Disease]
Currated CISMeF NLP mapping
- autosomal recessive nonsyndromic deafness 7 [DO Concept]
- deafness, autosomal recessive 7 [MeSH concept]
- deafness, autosomal recessive 7 [MeSH Supplementary Concept]
- nonsyndromic sensorineural deafness autosomal recessive 7 [Disease (Nov.)]
DO Cross reference
- autosomal recessive nonsyndromic deafness 7 [DO Concept]
Genes related to phenotype
- Transmembrane channel-like protein 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bilateral sensorineural deafness [HPO term]
- Congenital onset [HPO term]
- Juvenile onset [HPO term]
- Sensorineural hearing impairment [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]
UMLS correspondences (same concept)
- autosomal recessive nonsyndromic deafness 7 [DO Concept]
- deafness, autosomal recessive 7 [MeSH Supplementary Concept]
- deafness, autosomal recessive 7 [MeSH concept]
- nonsyndromic sensorineural deafness autosomal recessive 7 [Disease (Nov.)]

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