Deafness, autosomal recessive 21

Preferred Label : Deafness, autosomal recessive 21;

Symbol : DFNB21;

CISMeF acronym : DFNB21;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the alpha tectorin gene (TECTA, 602574.0003);

Prefixed ID : #603629;

Details

Origin ID

603629;

UMLS CUI

C1863655;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive non-syndromic sensorineural deafness type DFNB [ORDO Disease]
- TECTA wt Allele [NCIt concept]
Broader ORDO disease(s)
- Non-syndromic genetic deafness [ORDO Disease]
Currated CISMeF NLP mapping
- autosomal recessive nonsyndromic deafness 21 [DO Concept]
- deafness, autosomal recessive 21 [MeSH concept]
- deafness, autosomal recessive 21 [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive nonsyndromic deafness 21 [DO Concept]
Genes related to phenotype
- Tectorin, alpha [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]
See also inter- (CISMeF)
- symbol withdrawn DFNB21 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- deafness, autosomal recessive 21 [MeSH Supplementary Concept]
- deafness, autosomal recessive 21 [MeSH concept]

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