Deafness, autosomal recessive 44

Preferred Label : Deafness, autosomal recessive 44;

Symbol : DFNB44;

CISMeF acronym : DFNB44;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the adenylate cyclase-1, brain gene (ADCY1, 103072.0001);

Prefixed ID : #610154;

Details

Origin ID

610154;

UMLS CUI

C1857809;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive non-syndromic sensorineural deafness type DFNB [ORDO Disease]
Currated CISMeF NLP mapping
- autosomal recessive nonsyndromic deafness 44 [DO Concept]
- deafness, autosomal recessive 44 [MeSH concept]
- deafness, autosomal recessive 44 [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive nonsyndromic deafness 44 [DO Concept]
Genes related to phenotype
- Adenylate cyclase 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Prelingual deafness [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)
- deafness, autosomal recessive 44 [MeSH Supplementary Concept]
- deafness, autosomal recessive 44 [MeSH concept]

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