Search on: FAMILIAL HYPOPHOSPHATEMIC RICKETS 
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Descriptor English:   Familial Hypophosphatemic Rickets 
Descriptor Spanish:   Raquitismo Hipofosfatémico Familiar 
Descriptor Portuguese:   Raquitismo Hipofosfatêmico Familiar 
Synonyms English:   Generalized Resistance To 1,25 Dihydroxyvitamin D
Generalized Resistance To 1,25-Dihydroxyvitamin D
Hereditary Hypophosphatemic Rickets
Hereditary Vitamin D Resistant Rickets
Hereditary Vitamin D-Resistant Rickets
Hypocalcemic Vitamin D Resistant Rickets
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, X Linked
Hypophosphatemia, X-Linked
Hypophosphatemic Rickets, Familial
Hypophosphatemic Rickets, Hereditary
Hypophosphatemic Rickets, X Linked Dominant
Hypophosphatemic Rickets, X Linked Recessive
Hypophosphatemic Rickets, X-Linked
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Recessive
Rickets, Familial Hypophosphatemic
Rickets, Hereditary Hypophosphatemic
Rickets, Hereditary Vitamin D Resistant
Rickets, Hereditary Vitamin D-Resistant
Rickets, X-Linked Hypophosphatemic
Vitamin D Resistant Rickets With End Organ Unresponsiveness To 1,25 Dihydroxycholecalciferol
Vitamin D Resistant Rickets, Hereditary
Vitamin D Resistant Rickets, X Linked
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 Hypophosphatemia
X-Linked Hypophosphatemic Rickets  
Tree Number:   C05.116.198.816.875.500
C12.777.419.815.647.500
C13.351.968.419.815.647.500
C16.320.565.618.544.500
C16.320.565.861.647.500
C18.452.104.816.875.500
C18.452.174.845.875.500
C18.452.648.618.544.500
C18.452.648.861.647.500
C18.452.750.400.500.500
C18.452.750.400.750.500
C18.654.521.500.133.770.734.875.500
Definition English:   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. 
Indexing Annotation English:   coordinate with GENETIC DISEASES, X-LINKED if X-linked variant is discussed
History Note English:   2014 (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
DG diagnostic imaging 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 RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   52099 
Unique Identifier:   D053098 

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