Deafness, autosomal recessive 18a

Preferred Label : Deafness, autosomal recessive 18a;

Symbol : DFNB18A;

CISMeF acronym : DFNB18A; DFNB18;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : DFNB18; Deafness, autosomal recessive 18;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the Title: USH1 protein network component harmonin gene (USH1C, 605242.0008);

Prefixed ID : #602092;

Details

Origin ID

602092;

UMLS CUI

C1865870;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive non-syndromic sensorineural deafness type DFNB [ORDO Disease]
Broader ORDO disease(s)
- Non-syndromic genetic deafness [ORDO Disease]
Currated CISMeF NLP mapping
- autosomal recessive nonsyndromic deafness 18A [DO Concept]
- deafness, autosomal recessive 18 [MeSH concept]
- deafness, autosomal recessive 18 [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive nonsyndromic deafness 18A [DO Concept]
Genes related to phenotype
- Ush1 protein network component harmonin [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bilateral sensorineural deafness [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)
- autosomal recessive nonsyndromic deafness 18A [DO Concept]
- deafness, autosomal recessive 18 [MeSH Supplementary Concept]
- deafness, autosomal recessive 18 [MeSH concept]

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