Deafness, Autosomal Recessive 39

Preferred Label : Deafness, Autosomal Recessive 39;

NCIt synonyms : DFNB39;

NCIt definition : An autosomal recessive disorder caused by mutations in the HGF gene, encoding hepatocyte growth factor. It is characterized by profound deafness.;

Détails

Origin ID

C129874;

UMLS CUI

C1842342;

Currated CISMeF NLP mapping
- Deafness, autosomal recessive 39 [OMIM Phenotype]
- autosomal recessive nonsyndromic deafness 39 [DO Concept]
- deafness, autosomal recessive 39 [MeSH concept]
- deafness, autosomal recessive 39 [MeSH Supplementary Concept]
Has associated anatomic sites
- Ear [NCIt concept]
- Head and Neck [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deafness, autosomal recessive 39 [OMIM Phenotype]
- autosomal recessive nonsyndromic deafness 39 [DO Concept]
- deafness, autosomal recessive 39 [MeSH Supplementary Concept]
- deafness, autosomal recessive 39 [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_has_primary_anatomic_site
- Ear [NCIt concept]
- Head and Neck [NCIt concept]
disease_mapped_to_gene
- HGF Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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