Search on: HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT 
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Descriptor English:   Hypophosphatemic Rickets, X-Linked Dominant 
Descriptor Spanish:   Raquitismo Hipofosfatémico Dominante Ligado al Cromosoma X 
Descriptor Portuguese:   Raquitismo Hipofosfatêmico Dominante Ligado ao Cromossomo X 
Synonyms English:   Rickets, Hypophosphatemic
Rickets, Vitamin D-Resistant
Rickets, X-Linked Hypophosphatemic  
Tree Number:   C05.116.198.816.500
C12.777.419.815.647.500
C13.351.968.419.815.647.500
C16.320.322.239
C16.320.565.618.544.500
C16.320.565.861.647.500
C18.452.174.845.500
C18.452.648.618.544.500
C18.452.648.861.647.500
C18.654.521.500.133.770.734.500
Definition English:   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. 
History Note English:   2007; use HYPOPHOSPHATEMIA, FAMILIAL 1994-2006, use RICKETS, VITAMIN D-RESISTANT 1972-1993 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DH diet therapy DT drug therapy
EC economics EM embryology
EN enzymology EP epidemiology
EH ethnology ET etiology
GE genetics HI history
IM immunology ME metabolism
MI microbiology MO mortality
NU nursing PS parasitology
PA pathology PP physiopathology
PC prevention & control PX psychology
RA radiography RI radionuclide imaging
RT radiotherapy RH rehabilitation
SU surgery TH therapy
US ultrasonography UR urine
VE veterinary VI virology
Record Number:   52099 
Unique Identifier:   D053098 

Occurrence in VHL: 		 

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