Search Ontology:
Human Disease
Pendred Syndrome
- Term ID
- DOID:0060744
- Synonyms
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- congenital hypothyroidism due to dyshormonogenesis 2B
- deafness with goiter
- genetic defect in thyroid hormonogenesis 2B
- goiter-deafness syndrome
- TDH2B
- thyroid dyshormonogenesis 2B
- 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
- References
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- GARD:4271
- ICD10CM:E07.1
- MESH:C536648
- MIM:274600
- NCI:C121745
- ORDO:705
- SNOMEDCT_US_2023_03_01:70348004
- UMLS_CUI:C0271829
- Ontology
- Human Disease ( DOID:0060744 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models