MeSH Browser

MeSH Supplementary: Pendred syndrome
Unique ID: C536648
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C536648
Entry Term(s): Autosomal Recessive Sensorineural Hearing Impairment and Goiter; Deafness with goiter; Goiter-deafness syndrome; Hypothyroidism, Congenital, Due To Dyshormonogenesis, 2B; Pendred's Syndrome; Thyroid Dyshormonogenesis 2B; Thyroid Hormonogenesis, Genetic Defect In, 2B
Registry Number: 0
Heading Mapped to: *Goiter, Nodular; *Hearing Loss, Sensorineural
Frequency: 108
Note: An autosomal recessive disorder associated with developmental abnormalities of the COCHLEA, sensorineural hearing loss, and diffuse thyroid enlargement (goiter). Mutations in the SLC26A4 gene have been identified. OMIM: 274600
Date of Entry: 2010/08/25
Revision Date: 2015/08/18

Pendred syndrome MeSH Supplementary Concept Data 2023