Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
Definition
Hypoparathyroidism in which the inheritance is recessive and linked to the q26-q27 region of the X chromosome. The parathyroid glands are usually incompletely developed (parathyroid dysgenesis) or absent (parathyroid agenesis).
Also known as X-linked hypoparathyroidism — per MONDO
Also identified as
- DOID 0111388 per MONDO
- MESH C563238 per MONDO
- NCIT C131079 per MONDO
- OMIM 307700 per MONDO
- Orphanet 2239 per MONDO
- UMLS C0342344 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 |
| Parathyroid glands | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Parathyroid glands | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |