Familial Hypophosphatemic Rickets
Go to external page http://purl.bioontology.org/ontology/MESH/D053098An X-linked disorder characterized by HYPOPHOSPHATEMIA; RICKETS; OSTEOMALACIA; renal defects in phosphate reabsorption and vitamin D metabolism; and growth retardation. This disorder is caused by mutations in PHEX PHOSPHATE REGULATING NEUTRAL ENDOPEPTIDASE.
An X-linked recessive disorder associated with mutations in CLCN5, CHLORIDE CHANNEL 5.
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.
Instance info
X-chromosomal-gebundene Hypophosphatämie (DE), Generalized Resistance To 1,25 Dihydroxyvitamin D, Rachitis, X-chromosomal hypophosphatämische (DE), Hereditary Hypophosphatemic Rickets, Vitamin D Resistant Rickets, Vitamin-D-resistente Rachitis, X-chromosomale (DE), X-chromosomal-gebundene Vitamin-D-resistente Rachitis (DE), Familiäre hypophosphatämische Rachitis (DE), X-chromosomal-dominante Hypophosphatämie (DE), X-chromosomale Rachitis, hypophosphatämische (DE), Rickets, Familial Hypophosphatemic, Hypophosphatemic Rickets, X Linked Dominant, X-chromosal vererbte hypophosphatämische Rachitis (DE), X-chromosomal dominante hypophosphatämische Rachitis (DE), Hypophosphatemic Rickets, Familial, Rickets, Hereditary Vitamin D Resistant, X-chromosomale Hypophosphatämie (DE), Hypophosphatemia, X-Linked, Hypophosphatemic Rickets, X-Linked, Hypocalcemic Vitamin D-Resistant Rickets, Hypophosphatemia, X Linked, Rachitis, X-chromosomal-dominante hypophosphataemische (DE), Hypophosphataemische Rachitis, X-chromosomal-rezessive (DE), Vitamin D-Resistant Rickets, X-Linked, Vitamin-D-restistente X-chromosomal-gebundene Rachitis (DE), Hypocalcemic Vitamin D Resistant Rickets, X-chromosomale Hypophosphataemie (DE), Rickets, Hereditary Vitamin D-Resistant, Vitamin D Resistant Rickets, X Linked, Vitamin D-Resistant Rickets With End-Organ Unresponsiveness To 1,25-Dihydroxycholecalciferol, X-chromosomale Rachitis, Vitamin-D-restistente (DE), Rachitis, X-chromosomal hypophosphataemische (DE), Hypophosphatemic Rickets, X-Linked Recessive, Hypophosphatämie, X-chromosomale (DE), Rachitis, X-chromosomal-dominante hypophosphatämische (DE), Rickets, X-Linked Hypophosphatemic, Rickets, Hereditary Hypophosphatemic, Hypophosphatemic Rickets, X Linked Recessive, Hereditary Vitamin D-Resistant Rickets, X-chromosomal-gebundene hypophosphatämische Rachitis (DE), Vitamin-D-restistente Rachitis (DE), XLHR (DE), Hypophosphatämische Rachitis, X-chromosomal-rezessive (DE), Familiaere hypophosphataemische Rachitis (DE), Hereditary Vitamin D Resistant Rickets, X-Linked Hypophosphatemic Rickets, Vitamin D Resistant Rickets, Hereditary, Vitamin D-Resistant Rickets, Hereditary, X Linked Hypophosphatemia, Hypophosphatemic Rickets, Hereditary, Hypophosphataemie, X-chromosomale (DE), Hypophosphatemic Rickets, X-Linked Dominant, X-chromosomal-gebundene Hypophosphatämische Rachitis (DE), X-chromosomale-dominant vererbliche hypophosphatämische Vitamin-D-resistente Rachitis (DE), X-Linked Hypophosphatemia, Generalized Resistance To 1,25-Dihydroxyvitamin D, Vitamin D Resistant Rickets With End Organ Unresponsiveness To 1,25 Dihydroxycholecalciferol
coordinate with GENETIC DISEASES, X-LINKED if X-linked variant is discussed
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
1
20070101
2014 (2007); use HYPOPHOSPHATEMIA, FAMILIAL 1994-2006, use RICKETS, VITAMIN D-RESISTANT 1972-1993
20060705
20160707
C18.452.750.400.750.500,C18.452.104.816.875.500,C16.320.565.861.647.500,C13.351.968.419.815.647.500,C12.777.419.815.647.500,C18.452.648.618.544.500,C18.452.648.861.647.500,C18.452.750.400.500.500,C05.116.198.816.875.500,C18.452.174.845.875.500,C16.320.565.618.544.500,C18.654.521.500.133.770.734.875.500
2014; see HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT 2006-2013; see HYPOPHOSPHATEMIA, FAMILIAL 1994-2006, see RICKETS, VITAMIN D-RESISTANT 1972-1993
http://purl.bioontology.org/ontology/MESH/Q000175,http://purl.bioontology.org/ontology/MESH/Q000097,http://purl.bioontology.org/ontology/MESH/Q000196,http://purl.bioontology.org/ontology/MESH/Q000150,http://purl.bioontology.org/ontology/MESH/Q000191,http://purl.bioontology.org/ontology/MESH/Q000139,http://purl.bioontology.org/ontology/MESH/Q000534,http://purl.bioontology.org/ontology/MESH/Q000235,http://purl.bioontology.org/ontology/MESH/Q000532,http://purl.bioontology.org/ontology/MESH/Q000378,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000451,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000517,http://purl.bioontology.org/ontology/MESH/Q000382,http://purl.bioontology.org/ontology/MESH/Q000821,http://purl.bioontology.org/ontology/MESH/Q000601,http://purl.bioontology.org/ontology/MESH/Q000469,http://purl.bioontology.org/ontology/MESH/Q000523,http://purl.bioontology.org/ontology/MESH/Q000401,http://purl.bioontology.org/ontology/MESH/Q000201,http://purl.bioontology.org/ontology/MESH/Q000145,http://purl.bioontology.org/ontology/MESH/Q000266,http://purl.bioontology.org/ontology/MESH/Q000662,http://purl.bioontology.org/ontology/MESH/Q000188,http://purl.bioontology.org/ontology/MESH/Q000628,http://purl.bioontology.org/ontology/MESH/Q000209,http://purl.bioontology.org/ontology/MESH/Q000208,http://purl.bioontology.org/ontology/MESH/Q000503
T657987,T844186,T804979,T657984,T657986,T657985,T841609,T830026,T830027,T829636,T801298,T801296,T021023,T801297,T801295
GHR (2014),NLM (2007),ORD (2010),OMIM (2013),NLM (2014),NLM (1994)
C3540852,C3536984,C3536983,C1845168,C0733682
http://purl.bioontology.org/ontology/STY/T047
http://purl.bioontology.org/ontology/MESH/C567571,http://purl.bioontology.org/ontology/MESH/C562688,http://purl.bioontology.org/ontology/MESH/C564005,http://purl.bioontology.org/ontology/MESH/C567647,http://purl.bioontology.org/ontology/MESH/C562792,http://purl.bioontology.org/ontology/MESH/C562791,http://purl.bioontology.org/ontology/MESH/C562794,http://purl.bioontology.org/ontology/MESH/C562793
T047