Deafness, autosomal recessive 8

Preferred Label : Deafness, autosomal recessive 8;

Symbol : DFNB8;

CISMeF acronym : DFNB10; DFNB8; NSRD8;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : DFNB10; Deafness, autosomal recessive 10; NSRD8; Neurosensory nonsyndromic recessive deafness 8; DFNB8; Deafness, childhood-onset neurosensory, autosomal recessive 8;

Inheritance : Autosomal recessive;

Prefixed ID : #601072;

Details

Origin ID

601072;

UMLS CUI

C1832827;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive non-syndromic sensorineural deafness type DFNB [ORDO Disease]
- deafness, autosomal recessive 10 [MeSH concept]
- deafness, autosomal recessive 10 [MeSH Supplementary Concept]
Broader ORDO disease(s)
- Non-syndromic genetic deafness [ORDO Disease]
Currated CISMeF NLP mapping
- autosomal recessive nonsyndromic deafness 8 [DO Concept]
- deafness, Childhood-Onset neurosensory, autosomal recessive 8 [MeSH concept]
- deafness, Childhood-Onset neurosensory, autosomal recessive 8 [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive nonsyndromic deafness 8 [DO Concept]
Genes related to phenotype
- Transmembrane protease, serine 3 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bilateral sensorineural deafness [HPO term]
- Childhood onset [HPO term]
- Congenital onset [HPO term]
- 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]
UMLS correspondences (same concept)
- deafness, Childhood-Onset neurosensory, autosomal recessive 8 [MeSH Supplementary Concept]
- deafness, Childhood-Onset neurosensory, autosomal recessive 8 [MeSH concept]

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