Deafness, Autosomal Recessive 49

Preferred Label : Deafness, Autosomal Recessive 49;

NCIt synonyms : DFNB49;

NCIt definition : An autosomal recessive disorder caused by mutations in the MARVELD2 gene, encoding MARVEL domain-containing protein 2. The condition is characterized by profound prelingual deafness.;

Details

Origin ID

C129024;

UMLS CUI

C1857811;

Currated CISMeF NLP mapping
- Deafness, autosomal recessive 49 [OMIM Phenotype]
- autosomal recessive nonsyndromic deafness 49 [DO Concept]
- deafness, autosomal recessive 49 [MeSH concept]
- deafness, autosomal recessive 49 [MeSH Supplementary Concept]
Has associated anatomic sites
- Ear [NCIt concept]
- Head and Neck [NCIt concept]
See also inter- (CISMeF)
- MARVEL domain containing 2 [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deafness, autosomal recessive 49 [OMIM Phenotype]
- autosomal recessive nonsyndromic deafness 49 [DO Concept]
- deafness, autosomal recessive 49 [MeSH Supplementary Concept]
- deafness, autosomal recessive 49 [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- MARVELD2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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