Pendred syndrome
Pendred syndrome
Definition
Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter.
Also known as deafness with goiter, deafness with goitre, goiter-deafness syndrome, hypothyroidism, congenital, due to dyshormonogenesis, 2B, Pendred syndrome, TDH2B, thyroid dyshormonogenesis 2B, thyroid hormonogenesis, genetic defect in, 2B — per MONDO
Also identified as
- DOID 0060744 per MONDO
- MESH C536648 per MONDO
- NCIT C121745 per MONDO
- OMIM 274600 per MONDO
- Orphanet 705 per MONDO
- SCTID 70348004 per MONDO
- UMLS C0271829 per MONDO
Affected Organs
| Organ | Involvement | Source |
|---|---|---|
| Craniocervical region | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Craniocervical region | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |
| Endocrine gland | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Neck | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Neck | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |
| Thyroid gland | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Thyroid gland | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |