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 ×

Interatrial communication

ASD · Atrial septal defect

ORPHA:1478

Atrial septal defect, coronary sinus type

ASD, coronary sinus type · Unroofed coronary sinus

ORPHA:99104

Atrial septal defect, ostium primum type

ASD, ostium primum type

ORPHA:99106

Atrial septal defect, ostium secundum type

ASD, ostium secundum type

ORPHA:99103

Atrial septal defect, sinus venosus type

ASD, sinus venosus type

ORPHA:99105

Autism spectrum disorder due to AUTS2 deficiency

ASD due to AUTS2 deficiency · AUTS2 syndrome

ORPHA:352490

Rare pervasive developmental disorder

Rare autism spectrum disorder · Rare PDD

ORPHA:168778