Deafness, autosomal dominant 78

Preferred Label : Deafness, autosomal dominant 78;

Symbol : DFNA78;

Type : Phenotype, molecular basis known;

Prefixed ID : #619081;

Details

Origin ID

619081;

UMLS CUI

C5436768;

Currated CISMeF NLP mapping
- autosomal dominant nonsyndromic deafness 78 [DO Concept]
DO Cross reference
- autosomal dominant nonsyndromic deafness 78 [DO Concept]
Genes related to phenotype
- Solute carrier family 12 (sodium/potassium/chloride transporter), member 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Motor delay [HPO term]
- Profound sensorineural hearing impairment [HPO term]
Not associated HPO term(s)
- Global developmental delay [HPO term]
- Macrocephaly [HPO term]
- Schizophrenia [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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