GenTIGSA Gene Database on Rare Genetic Disorders
Familial X-linked Hypophosphatemic Vitamin D Refractory Rickets  
Disease Aliases (45)

Generalized resistance to 1,25 dihydroxyvitamin d

Generalized resistance to 1,25-dihydroxyvitamin d

Hpdr

Hypophosphatemia, x-linked

Hypophosphatemic vitamin d-resistant rickets

Hereditary hypophosphatemic rickets

Hereditary vitamin d resistant rickets

Hereditary vitamin d-resistant rickets

Hypocalcemic vitamin d resistant rickets

Hypocalcemic vitamin d-resistant rickets

Hypophophatemia, x-linked

Hypophophatemic vitamin d-resistant rickets

Hypophosphatemia, 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

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, 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

Vitamin d-resistant rickets with end-organ unresponsiveness to 1,25-dihydroxycholecalciferol

Vitamin d-resistant rickets, hereditary

X linked hypophosphatemia

X-linked hypophosphatemia

X-linked hypophosphatemic rickets

X-linked dominant hypophosphatemic rickets

X-linked hereditary hypophosphatemic rickets

X-linked hypophosphatemic rickets (recessive or dominant)

Xlh

Xlhr

Hereditary hypophosphatemic rickets, x-linked

Hypophosphatemic rickets x-linked dominant

Hypophosphatemic rickets, x-linked dominant; xlhr

Rickets, vitamin d-resistant

Associated Genes (1)
 

NCBI-RefSeq:  PHEX   (Phosphate regulating endopeptidase homolog X-linked)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Familial X-linked hypophosphatemic vitamin D refractory rickets OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations