Familial Hypophosphatemic Rickets

Go to external page http://purl.bioontology.org/ontology/MESH/D053098


An 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

Synonyms

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

AN

coordinate with GENETIC DISEASES, X-LINKED if X-linked variant is discussed

AQL

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

DC

1

DX

20070101

HN

2014 (2007); use HYPOPHOSPHATEMIA, FAMILIAL 1994-2006, use RICKETS, VITAMIN D-RESISTANT 1972-1993

MDA

20060705

MMR

20160707

MN

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

PM

2014; see HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT 2006-2013; see HYPOPHOSPHATEMIA, FAMILIAL 1994-2006, see RICKETS, VITAMIN D-RESISTANT 1972-1993

QB

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

TERMUI

T657987,T844186,T804979,T657984,T657986,T657985,T841609,T830026,T830027,T829636,T801298,T801296,T021023,T801297,T801295

TH

GHR (2014),NLM (2007),ORD (2010),OMIM (2013),NLM (2014),NLM (1994)

cui

C3540852,C3536984,C3536983,C1845168,C0733682

hasSTY

http://purl.bioontology.org/ontology/STY/T047

mapped from

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

tui

T047

Instance relations

Types