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"

6 matching diseasesClear search ×

Autosomal recessive infantile hypercalcemia

Familial infantile hypercalcemia with suppressed intact parathyroid hormone · Infantile hypercalcaemia type 1

ORPHA:300547

Generalized arterial calcification of infancy

Idiopathic infantile arterial calcification · Idiopathic obliterative arteriopathy

ORPHA:51608

Idiopathic hypercalciuria

ORPHA:2197

Idiopathic hypersomnia

Idiopathic excessive sleepiness

ORPHA:33208

Infantile glycine encephalopathy

Infantile NKH · Infantile non-ketotic hyperglycinemia

ORPHA:289860

Isolated asymptomatic elevation of creatine phosphokinase

Isolated asymptomatic hyperCKemia · Idiopathic asymptomatic hyperCKemia

ORPHA:206599