| Metadata | |
|---|---|
| ID | DOID:0060744 |
| Name | Pendred Syndrome |
| Definition | A syndrome characterized by bilateral prelingual sensorineural hearing loss and euthyroid goiter and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC26A4 gene on chromosome 7q. https://www.ncbi.nlm.nih.gov/pubmed/9398842 |
| Xrefs |
SNOMEDCT_US_2023_03_01:70348004 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
congenital hypothyroidism due to dyshormonogenesis 2B [EXACT] deafness with goiter [EXACT] genetic defect in thyroid hormonogenesis 2B [EXACT] goiter-deafness syndrome [EXACT] TDH2B [EXACT] thyroid dyshormonogenesis 2B [EXACT] |
| Parent Relationships |
is_a syndrome |