Deafness, autosomal recessive 89

Preferred Label : Deafness, autosomal recessive 89;

Symbol : DFNB89;

CISMeF acronym : DFNB89;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the lysyl-tRNA synthetase 1 gene (LARS1, 601421.0003);

Prefixed ID : #613916;

Détails

Origin ID

613916;

UMLS CUI

C3151351;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive non-syndromic sensorineural deafness type DFNB [ORDO Disease]
Currated CISMeF NLP mapping
- autosomal recessive nonsyndromic deafness 89 [DO Concept]
DO Cross reference
- autosomal recessive nonsyndromic deafness 89 [DO Concept]
Genes related to phenotype
- Lysyl-trna synthetase 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- 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]

Position du mot-clé dans l'(les) arborescence(s) :

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