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"

9 matching diseasesClear search ×

Neonatal glycine encephalopathy

Classic glycine encephalopathy · Neonatal NKH

ORPHA:289857

Carnitine palmitoyl transferase II deficiency, neonatal form

CPT2, lethal systemic form · CPT2, neonatal form

ORPHA:228308

Neonatal acute respiratory distress syndrome

Neonatal RDS · Hyaline membrane disease

ORPHA:217563

Neonatal autoimmune hemolytic anemia

Neonatal AHA · Neonatal AIHA

ORPHA:398109

Neonatal dermatomyositis

Neonatal DM

ORPHA:398117

Neonatal Marfan syndrome

Neonatal MFS

ORPHA:284979

Neonatal neutropenia

ORPHA:37629

Neonatal renal venous thrombosis

Neonatal RVT · NRVT

ORPHA:664912

Neonatal scleroderma

ORPHA:398127