Deafness, autosomal recessive 104

Preferred Label : Deafness, autosomal recessive 104;

Symbol : DFNB104;

CISMeF acronym : DFNB104;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the family with sequence similarity 65, member B gene (FAM65B, 611410.0001);

Prefixed ID : #616515;

Details

Origin ID

616515;

UMLS CUI

C4225298;

CISMeF manual mappings
- autosomal recessive nonsyndromic deafness 104 [DO Concept]
DO Cross reference
- autosomal recessive nonsyndromic deafness 104 [DO Concept]
Genes related to phenotype
- Rho family-interacting cell polarization regulator 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Prelingual 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 104 [DO Concept]

Keyword's position in hierarchy(ies) :

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