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Term:
X-linked dominant hypophosphatemic rickets (DOID:0050445)
Annotations: Rat: (4) Mouse: (4) Human: (7) Chinchilla: (4) Bonobo: (5) Dog: (4) Squirrel: (4) Pig: (4)
Parent Terms Term With Siblings Child Terms
alpha thalassemia-X-linked intellectual disability syndrome  
amelogenesis imperfecta type 1E  
autosomal dominant hypophosphatemic rickets  
autosomal recessive hypophosphatemic rickets +   
Charcot-Marie-Tooth disease X-linked dominant 1  
Charcot-Marie-Tooth disease X-linked dominant 6  
Christianson syndrome  
Coffin-Lowry syndrome  
congenital disorder of glycosylation type IIm  
Cornelia de Lange syndrome 2  
Cornelia de Lange syndrome 5  
craniofrontonasal syndrome  
Danon disease  
early infantile epileptic encephalopathy 36  
focal dermal hypoplasia +   
fragile X syndrome +   
hereditary hypophosphatemic rickets with hypercalciuria  
Nance-Horan syndrome  
neurodegeneration with brain iron accumulation 5  
Ogden syndrome  
orofaciodigital syndrome I  
X-linked Alport syndrome  
X-linked chondrodysplasia punctata 2  
X-linked dominant hypophosphatemic rickets  
A rickets has_material_basis in X-linked mutations in the PHEX gene that lead to increased circulating levels of FGF-23, a phosphate-regulating hormone (phosphatonin), that leads to reduced renal phosphate reabsorption and consequently abnormal bone mineralization. (DO)
X-linked recessive hypophosphatemic rickets  

Synonyms
Exact Synonyms: FAMILIAL X-LINKED HYPOPHOSPHATEMIC VITAMIN D REFRACTORY RICKETS ;   HPDR ;   HYP ;   Hereditary Vitamin D Resistant Rickets ;   Hypocalcemic Vitamin D Resistant Rickets ;   Hypophosphatemia, Vitamin D-Resistant Rickets ;   Hypophosphatemic Vitamin D Resistant Rickets ;   Vitamin D Resistant Rickets, X Linked ;   X-linked hypophosphatemia ;   X-linked hypophosphatemic rickets ;   XLH ;   XLHR
Alternate IDs: DOID:9003750 ;   OMIM:307800 ;   RDO:0007605 ;   RDO:9000070
Xrefs: NCI:C123265 ;   NCI:C85234
Definition Sources: http://en.wikipedia.org/wiki/X-linked_hypophosphatemia, https://rarediseases.info.nih.gov/diseases/12943/x-linked-hypophosphatemia

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.