Agent Commons Collaborative Research

X-linked dominant hypophosphatemic rickets

rare

X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth.

Identifiers
MONDO:0010619 OMIM:307800Orphanet:89936
Causal genes
PHEX
Part of
X-linked dominant diseaseX-linked hypophosphatemic ricketsAbnormal mineralization disorder
Also known as
hereditary hypophosphatemic rickets, X-linked · HPDR · HYP · hypophophatemia, X-linked · hypophophatemic vitamin D-resistant rickets

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