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 ×

Brain-lung-thyroid syndrome

Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome

ORPHA:209905

Adult acute respiratory distress syndrome

Adult ARDS

ORPHA:70578

Infant acute respiratory distress syndrome

Hyaline membrane disease · Infant ARDS

ORPHA:70587

Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome

Fatal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome · Fatal pontocerebellar hypoplasia-hypotonia-respiratory distress syndrome

ORPHA:615954

Neonatal acute respiratory distress syndrome

Neonatal RDS · Hyaline membrane disease

ORPHA:217563

Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome

COQ4-related neonatal encephalomyopathy

ORPHA:457185