Jump to:
loading...| Preferred Name |
Hypophosphatemia, Familial [Disease/Finding] |
|
| Synonyms |
Familial Hypophosphatemia Hypophosphatemia, Familial |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000001644 |
|
| altLabel |
Familial Hypophosphatemia Hypophosphatemia, Familial |
|
| cui |
C0020631 |
|
| MESH DEFINITION |
An inherited condition of abnormally low serum levels of PHOSPHATES (below 1 mg/liter) which can occur in a number of genetic diseases with defective reabsorption of inorganic phosphorus by the PROXIMAL RENAL TUBULES. This leads to phosphaturia, HYPOPHOSPHATEMIA, and disturbances of cellular and organ functions such as those in X-LINKED HYPOPHOSPHATEMIC RICKETS; OSTEOMALACIA; and FANCONI SYNDROME. |
|
| MESH DUI |
D007015 |
|
| MeSH name |
Hypophosphatemia, Familial |
|
| MESH UI |
M0010916 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000001644 |
|
| NUI |
N0000001644 |
|
| prefLabel |
Hypophosphatemia, Familial [Disease/Finding] |
|
| tui |
T047 |
|
| subClassOf |
Create mapping