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Pendred syndrome MeSH Supplementary Concept Data 2022


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
107
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 Preferred
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