loading...| Preferred Name |
Hypophosphatemia, Familial |
|
| Synonyms |
Diabetes, Phosphate Phosphaturia Familial Hypophosphatemia Hyperphosphaturia Phosphate Diabetes Hypophosphatemias, Familial Familial Hypophosphatemias |
|
| Definitions |
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. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D007015 |
|
| altLabel |
Diabetes, Phosphate Phosphaturia Familial Hypophosphatemia Hyperphosphaturia Phosphate Diabetes Hypophosphatemias, Familial Familial Hypophosphatemias |
|
| AN |
a clinical entity: not for decreased blood phosphate levels ( = PHOSPHATES /blood) |
|
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
| cui |
C0020631 C0282201 |
|
| DC |
1 |
|
| 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. |
|
| DX |
19650101 |
|
| HN |
1965 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Machine permutation |
1965 |
|
| Mapped from | ||
| MDA |
19990101 |
|
| MMR |
20210630 |
|
| MN |
C16.320.831.647 C18.452.648.618.544 C12.200.777.419.815.647 C12.950.419.815.647 C16.320.565.618.544 C18.452.750.400.500 C12.050.351.968.419.815.647 |
|
| notation |
D007015 |
|
| prefLabel |
Hypophosphatemia, Familial |
|
| TERMUI |
T021026 T657983 T657982 T657981 T021025 T021021 |
|
| TH |
NLM (1965) UNK (19XX) NLM (2007) |
|
| tui |
T047 |
|
| subClassOf |
http://purl.bioontology.org/ontology/MESH/D008664 |