Deafness, autosomal recessive 49

Preferred Label : Deafness, autosomal recessive 49;

Symbol : DFNB49;

CISMeF acronym : DFNB49;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the marvel domain-containing protein 2 gene (MARVELD2, 610572.0001);

Prefixed ID : #610153;

Details

Origin ID

610153;

UMLS CUI

C1857811;

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
- Deafness, Autosomal Recessive 49 [NCIt concept]
- autosomal recessive nonsyndromic deafness 49 [DO Concept]
- deafness, autosomal recessive 49 [MeSH concept]
- deafness, autosomal recessive 49 [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive nonsyndromic deafness 49 [DO Concept]
Genes related to phenotype
- Marvel domain-containing protein 2 [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 49 [NCIt concept]
- autosomal recessive nonsyndromic deafness 49 [DO Concept]
- deafness, autosomal recessive 49 [MeSH Supplementary Concept]
- deafness, autosomal recessive 49 [MeSH concept]

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