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 ×

Infantile glycine encephalopathy

Infantile NKH · Infantile non-ketotic hyperglycinemia

ORPHA:289860

Atypical glycine encephalopathy

Atypical NKA · Atypical non-ketotic hyperglycinemia

ORPHA:289863

Autosomal recessive infantile hypercalcemia

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

ORPHA:300547

Childhood-onset spasticity with hyperglycinemia

Childhood-onset spasticity with variant non-ketotic hyperglycinemia · Spasticity-ataxia-gait anomalies syndrome

ORPHA:401866

Glycine encephalopathy

NKA · Non-ketotic hyperglycinemia

ORPHA:407

Neonatal glycine encephalopathy

Classic glycine encephalopathy · Neonatal NKH

ORPHA:289857

Propionic acidemia

Ketotic hyperglycinemia · Propionic aciduria

ORPHA:35