Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

7 matching diseasesClear search ×

X-linked hypophosphatemia

X-linked hypophosphatemic rickets · XLH

ORPHA:89936

Autosomal dominant hypophosphatemic rickets

ADHR · Autosomal dominant hypophosphatemia

ORPHA:89937

Autosomal recessive hypophosphatemic rickets

ARHR

ORPHA:289176

Dent disease

Dent syndrome · Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis

ORPHA:1652

Hereditary hypophosphatemic rickets with hypercalciuria

HHRH

ORPHA:157215

Hypocalcemic rickets

ORPHA:289103

Hypophosphatemic rickets

ORPHA:437