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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Disease Browser
Parent Node: Hypophosphatemia (D017674)
Parent Node: Metal Metabolism, Inborn Errors (D008664)
Parent Node: Renal Tubular Transport, Inborn Errors (D015499)
..Starting node ..Hypophosphatemia, Familial (D007015)
Child Nodes:
........Familial Hypophosphatemic Rickets (D053098) 9
........Hypophosphatemia, Renal, with Intracerebral Calcifications (C565478)
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)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	5604
Name:	Hypophosphatemia, Familial
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.
Alternative IDs:
ParentIDs:	MESH:D008664\|MESH:D015499\|MESH:D017674
TreeNumbers:	C12.777.419.815.647 \|C13.351.968.419.815.647 \|C16.320.565.618.544 \|C16.320.565.861.647 \|C18.452.648.618.544 \|C18.452.648.861.647 \|C18.452.750.400.500
Synonyms:	Diabetes, Phosphate \|Familial Hypophosphatemia \|Familial Hypophosphatemias \|Hyperphosphaturia \|Hypophosphatemias, Familial \|Phosphate Diabetes \|Phosphaturia
Slim Mappings:	Genetic disease (inborn)\|Metabolic disease\|Urogenital disease (female)\|Urogenital disease (male)
Reference:	MedGen: D007015 MeSH: D007015 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants