Deafness, autosomal recessive 38

Preferred Label : Deafness, autosomal recessive 38;

Symbol : DFNB38;

CISMeF acronym : DFNB38;

Type : Phenotype or locus, molecular basis unknown;

Inheritance : Autosomal recessive;

Prefixed ID : %608219;

Details

Origin ID

608219;

UMLS CUI

C1842381;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive non-syndromic sensorineural deafness type DFNB [ORDO Disease]
Currated CISMeF NLP mapping
- autosomal recessive nonsyndromic deafness 38 [DO Concept]
- deafness, autosomal recessive 38 [MeSH concept]
- deafness, autosomal recessive 38 [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive nonsyndromic deafness 38 [DO Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bilateral sensorineural deafness [HPO term]
- Prelingual sensorineural hearing impairment [HPO term]
ORDO concept(s)
- Autosomal recessive non-syndromic sensorineural deafness type DFNB [ORDO Disease]
See also inter- (CISMeF)
- GJA1 wt Allele [NCIt concept]
- deafness, autosomal recessive 38 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- deafness, autosomal recessive 38 [MeSH Supplementary Concept]
- deafness, autosomal recessive 38 [MeSH concept]

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