| D007015 |
Hypophosphatemia, Familial |
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. |
Diabetes, Phosphate,Familial Hypophosphatemia,Hyperphosphaturia,Phosphate Diabetes,Phosphaturia,Familial Hypophosphatemias,Hypophosphatemias, Familial |
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| D008040 |
Genetic Linkage |
The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME. |
Genetic Linkage Analysis,Linkage, Genetic,Analyses, Genetic Linkage,Analysis, Genetic Linkage,Genetic Linkage Analyses,Linkage Analyses, Genetic,Linkage Analysis, Genetic |
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| D008297 |
Male |
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Males |
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| D009154 |
Mutation |
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. |
Mutations |
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| D005260 |
Female |
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Females |
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| D006801 |
Humans |
Members of the species Homo sapiens. |
Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man |
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| D014960 |
X Chromosome |
The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species. |
Chromosome, X,Chromosomes, X,X Chromosomes |
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| D051437 |
Renal Insufficiency |
Conditions in which the KIDNEYS perform below the normal level in the ability to remove wastes, concentrate URINE, and maintain ELECTROLYTE BALANCE; BLOOD PRESSURE; and CALCIUM metabolism. Renal insufficiency can be classified by the degree of kidney damage (as measured by the level of PROTEINURIA) and reduction in GLOMERULAR FILTRATION RATE. |
Kidney Insufficiency,Kidney Failure,Renal Failure,Failure, Kidney,Failure, Renal,Failures, Kidney,Failures, Renal,Insufficiency, Kidney,Kidney Failures,Kidney Insufficiencies,Renal Failures,Renal Insufficiencies |
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| D018118 |
Chloride Channels |
Cell membrane glycoproteins that form channels to selectively pass chloride ions. Nonselective blockers include FENAMATES; ETHACRYNIC ACID; and TAMOXIFEN. |
CaCC,Calcium-Activated Chloride Channel,Chloride Ion Channel,Chlorine Channel,Ion Channels, Chloride,CaCCs,Calcium-Activated Chloride Channels,Chloride Channel,Chloride Ion Channels,Chlorine Channels,Ion Channel, Chloride,Calcium Activated Chloride Channel,Calcium Activated Chloride Channels,Channel, Calcium-Activated Chloride,Channel, Chloride,Channel, Chloride Ion,Channel, Chlorine,Channels, Calcium-Activated Chloride,Channels, Chloride,Channels, Chloride Ion,Channels, Chlorine,Chloride Channel, Calcium-Activated,Chloride Channels, Calcium-Activated |
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