|  Help  |  About  |  Contact Us

DO Term : X-linked dominant hypophosphatemic rickets [DOID:0050445] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • Hypophosphatemia, Vitamin D-Resistant Rickets,
  • NCI:C85234,
  • UMLS_CUI:C1845168,
  • X-linked hypophosphatemia,
  • hypophosphatemic rickets X-linked dominant,
  • UMLS_CUI:C0733682,
  • Vitamin D-Resistant Rickets, X-Linked,
  • UMLS_CUI:C3540852,
  • OMIM:307800,
  • 307800,
  • MESH:D053098
Quick Links:
 
Quick Links:
 

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents