| Disease Browser
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Parent Node:
 Hypophosphatemia (D017674) | Parent Node:
Nephrolithiasis (D053040) | Parent Node:
Osteoporosis (D010024) | Parent Node:
Renal Tubular Transport, Inborn Errors (D015499) | ..Starting node
.. Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1 (C567363)
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Child Nodes:
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Sister Nodes: | ..Acidosis, Renal Tubular (D000141)  11
| ..Azotemia, Familial (C566233)
| ..Bartter Syndrome (D001477) 8
| ..Dent Disease (D057973) 1
| ..Donnai-Barrow syndrome (C536390)
| ..Fanconi Syndrome (D005198) 3
| ..Gitelman Syndrome (D053579) 1
| ..Glycosuria, Renal (D006030) 1
| ..Hypomagnesemia 1, Intestinal (C566593)
| ..Hypomagnesemia 2, renal (C537152)
| ..Hypomagnesemia 4, Renal (C567127)
| ..Hypomagnesemia 5, Renal, with Ocular Involvement (C565423)
| ..Hypomagnesemia primary (C537153)
| ..Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial (C564024)
| ..Hypophosphatemia, Familial (D007015) 11
| ..Hypouricemia, Familial Renal, due to Tubular Hypersecretion (C564405)
| ..Hypouricemia, Hypercalcinuria, and Decreased Bone Density (C565475)
| ..Hypouricemia, Renal, 2 (C567426)
| ..Iminoglycinuria (C536285)
| ..Liddle Syndrome (D056929)
| ..Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1 (C567363)
| ..Nephrolithiasis-Osteoporosis, Hypophosphatemic, 2 (C567362)
| ..Oculocerebrorenal Syndrome (D009800) 1
| ..Pseudohypoaldosteronism (D011546) 4
| ..Renal Aminoacidurias (D000608) 9
| ..Renal hypouricemia (C537757)
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Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
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| Term ID: | 7874 |
| Name: | Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1 |
| Definition: | |
| Alternative IDs: | |
| ParentIDs: | MESH:D010024|MESH:D015499|MESH:D017674|MESH:D053040 |
| TreeNumbers: | C05.116.198.579/C567363 |C12.777.419.600/C567363 |C12.777.419.815/C567363 |C12.777.967.249/C567363 |C13.351.968.419.600/C567363 |C13.351.968.419.815/C567363 |C13.351.968.967.249/C567363 |C16.320.565.861/C567363 |C18.452.648.861/C567363 |C18.452.750.400/C567363 |
| Synonyms: | NPHLOP1 |
| Slim Mappings: | Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Urogenital disease (female)|Urogenital disease (male) |
| Reference: |
MedGen: C567363
MeSH: C567363
OMIM:
Genes: | | Phenotypes | | | Disease Causing ClinVar Variants | |
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