[X-linked hypophosphatemic rickets]. 2007

Toshimi Michigami

UI MeSH Term Description Entries
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
D010710 Phosphates Inorganic salts of phosphoric acid. Inorganic Phosphate,Phosphates, Inorganic,Inorganic Phosphates,Orthophosphate,Phosphate,Phosphate, Inorganic
D002117 Calcitriol The physiologically active form of vitamin D. It is formed primarily in the kidney by enzymatic hydroxylation of 25-hydroxycholecalciferol (CALCIFEDIOL). Its production is stimulated by low blood calcium levels and parathyroid hormone. Calcitriol increases intestinal absorption of calcium and phosphorus, and in concert with parathyroid hormone increases bone resorption. 1 alpha,25-Dihydroxycholecalciferol,1 alpha,25-Dihydroxyvitamin D3,1, 25-(OH)2D3,1,25(OH)2D3,1,25-Dihydroxycholecalciferol,1,25-Dihydroxyvitamin D3,1 alpha, 25-dihydroxy-20-epi-Vitamin D3,1,25(OH)2-20epi-D3,1,25-dihydroxy-20-epi-Vitamin D3,20-epi-1alpha,25-dihydroxycholecaliferol,Bocatriol,Calcijex,Calcitriol KyraMed,Calcitriol-Nefro,Decostriol,MC-1288,MC1288,Osteotriol,Renatriol,Rocaltrol,Silkis,Sitriol,Soltriol,Tirocal,1 alpha,25 Dihydroxyvitamin D3,1,25 Dihydroxycholecalciferol,1,25 Dihydroxyvitamin D3,1,25 dihydroxy 20 epi Vitamin D3,Calcitriol Nefro,D3, 1 alpha,25-Dihydroxyvitamin,D3, 1,25-Dihydroxyvitamin,D3, 1,25-dihydroxy-20-epi-Vitamin,KyraMed, Calcitriol,MC 1288
D005346 Fibroblast Growth Factors A family of small polypeptide growth factors that share several common features including a strong affinity for HEPARIN, and a central barrel-shaped core region of 140 amino acids that is highly homologous between family members. Although originally studied as proteins that stimulate the growth of fibroblasts this distinction is no longer a requirement for membership in the fibroblast growth factor family. DNA Synthesis Factor,Fibroblast Growth Factor,Fibroblast Growth Regulatory Factor,Growth Factor, Fibroblast,Growth Factors, Fibroblast
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D006887 Hydroxycholecalciferols Hydroxy analogs of vitamin D 3; (CHOLECALCIFEROL); including CALCIFEDIOL; CALCITRIOL; and 24,25-DIHYDROXYVITAMIN D 3. Hydroxyvitamins D,Hydroxycholecalciferol
D000089703 Fibroblast Growth Factor-23 A specific fibrobroblast growth factor that is primarily synthesized by OSTEOCYTES and OSTEOBLASTS. It is involved in regulating phosphate homeostasis and renal phosphate excretion. Fibroblast Growth Factor 23
D000818 Animals Unicellular or multicellular, heterotrophic organisms, that have sensation and the power of voluntary movement. Under the older five kingdom paradigm, Animalia was one of the kingdoms. Under the modern three domain model, Animalia represents one of the many groups in the domain EUKARYOTA. Animal,Metazoa,Animalia
D014807 Vitamin D A vitamin that includes both CHOLECALCIFEROLS and ERGOCALCIFEROLS, which have the common effect of preventing or curing RICKETS in animals. It can also be viewed as a hormone since it can be formed in SKIN by action of ULTRAVIOLET RAYS upon the precursors, 7-dehydrocholesterol and ERGOSTEROL, and acts on VITAMIN D RECEPTORS to regulate CALCIUM in opposition to PARATHYROID HORMONE.
D053098 Familial Hypophosphatemic Rickets A hereditary disorder characterized by HYPOPHOSPHATEMIA; RICKETS; OSTEOMALACIA; renal defects in phosphate reabsorption and vitamin D metabolism; and growth retardation. Autosomal and X-linked dominant and recessive variants have been reported. Hypophosphatemic Rickets, X-Linked Dominant,Rickets, X-Linked Hypophosphatemic,Generalized Resistance To 1,25-Dihydroxyvitamin D,Hereditary Hypophosphatemic Rickets,Hereditary Vitamin D-Resistant Rickets,Hypocalcemic Vitamin D-Resistant Rickets,Hypophosphatemia, X-Linked,Hypophosphatemic Rickets, X-Linked Recessive,Rickets, Hereditary Vitamin D-Resistant,Vitamin D-Resistant Rickets With End-Organ Unresponsiveness To 1,25-Dihydroxycholecalciferol,Vitamin D-Resistant Rickets, Hereditary,Vitamin D-Resistant Rickets, X-Linked,X-Linked Hypophosphatemia,Generalized Resistance To 1,25 Dihydroxyvitamin D,Hereditary Vitamin D Resistant Rickets,Hypocalcemic Vitamin D Resistant Rickets,Hypophosphatemia, X Linked,Hypophosphatemic Rickets, Familial,Hypophosphatemic Rickets, Hereditary,Hypophosphatemic Rickets, X Linked Dominant,Hypophosphatemic Rickets, X Linked Recessive,Hypophosphatemic Rickets, X-Linked,Rickets, Familial Hypophosphatemic,Rickets, Hereditary Hypophosphatemic,Rickets, Hereditary Vitamin D Resistant,Vitamin D Resistant Rickets With End Organ Unresponsiveness To 1,25 Dihydroxycholecalciferol,Vitamin D Resistant Rickets, Hereditary,Vitamin D Resistant Rickets, X Linked,X Linked Hypophosphatemia,X-Linked Hypophosphatemic Rickets

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