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"

13 matching diseasesClear search ×

Infant acute respiratory distress syndrome

Hyaline membrane disease · Infant ARDS

ORPHA:70587

Adult acute respiratory distress syndrome

Adult ARDS

ORPHA:70578

Brain-lung-thyroid syndrome

Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome

ORPHA:209905

Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome

EMARDD

ORPHA:439212

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 antiphospholipid syndrome

Neonatal Hughes syndrome · Neonatal antiphospholipid antibody syndrome

ORPHA:398097

Neonatal compartment syndrome

Neonatal Volkmann ischemic contracture syndrome · Congenital Volkmann ischemic contracture syndrome

ORPHA:641829

Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome

COQ4-related neonatal encephalomyopathy

ORPHA:457185

Neonatal Marfan syndrome

Neonatal MFS

ORPHA:284979

Pediatric acute respiratory distress syndrome

Pediatric ARDS · PARDS

ORPHA:685082

Severe acute respiratory syndrome

SARS · SARS-1

ORPHA:140896

Wiedemann-Rautenstrauch syndrome

Neonatal progeroid syndrome

ORPHA:3455