Thyroid dyshormonogenesis 2A
Thyroid dyshormonogenesis 2A
Definition
Thyroid peroxidase system defect due to presumed mutation(s) in the TPO gene, resulting in decreased activity of thyroid peroxidase.
Also known as familial thyroid dyshormonogenesis caused by mutation in TPO, hypothyroidism, congenital, due to dyshormonogenesis, 2A, TDH2A, thyroid dyshormonogenesis 2A, thyroid dyshormonogenesis type 2A, thyroid hormonogenesis, genetic defect in, 2A, TPO familial thyroid dyshormonogenesis — per MONDO
Also identified as
- DOID 0112186 per MONDO
- ICD9 277.6 per MONDO
- MESH C563206 per MONDO
- NCIT C121750 per MONDO
- OMIM 274500 per MONDO
- SCTID 124204003 per MONDO
- UMLS C1291299 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 |