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"

8 matching diseasesClear search ×

Pituitary stalk interruption syndrome

Ectopic neurohypophysis · PSIS

ORPHA:95496

Facial dysmorphism-Intellectual disability-rhombencephalosynapsis syndrome

MN1 C-terminal truncation syndrome · MCTT

ORPHA:693549

Invasive scopulariopsis infection

ORPHA:633124

Opsismodysplasia

ORPHA:2746

Rhombencephalosynapsis

ORPHA:59315

Sepsis in premature infants

ORPHA:90051

Psittacosis

Ornithosis · Parrot fever

ORPHA:660053

Scheie syndrome

MPS1S · MPSIS

ORPHA:93474