Deafness, autosomal recessive 103

Preferred Label : Deafness, autosomal recessive 103;

Symbol : DFNB103;

CISMeF acronym : DFNB103;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the chloride intracellular channel-5 gene (CLIC5, 607293.0001);

Prefixed ID : #616042;

Details

Origin ID

616042;

UMLS CUI

C4015050;

CISMeF manual mappings
- autosomal recessive nonsyndromic deafness 103 [DO Concept]
DO Cross reference
- autosomal recessive nonsyndromic deafness 103 [DO Concept]
Genes related to phenotype
- Chloride intracellular channel 5 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Infantile onset [HPO term]
- Sensorineural hearing impairment [HPO term]
- Vestibular areflexia [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 103 [DO Concept]

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