Deafness, autosomal recessive 53

Preferred Label : Deafness, autosomal recessive 53;

Symbol : DFNB53;

CISMeF acronym : DFNB53;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the alpha-2 collagen XI polypeptide gene (COL11A2, 120290.0010);

Prefixed ID : #609706;

Détails

Origin ID

609706;

UMLS CUI

C1864746;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive non-syndromic sensorineural deafness type DFNB [ORDO Disease]
Broader ORDO disease(s)
- Non-syndromic genetic deafness [ORDO Disease]
Currated CISMeF NLP mapping
- autosomal recessive nonsyndromic deafness 53 [DO Concept]
- deafness, autosomal recessive 53 [MeSH concept]
- deafness, autosomal recessive 53 [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive nonsyndromic deafness 53 [DO Concept]
Genes related to phenotype
- Collagen, type XI, alpha-2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- 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 53 [MeSH Supplementary Concept]
- deafness, autosomal recessive 53 [MeSH concept]

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