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 ×

Perrault syndrome type 1

XX gonadal dysgenesis-deafness syndrome-without neurological manifestations

ORPHA:642945

46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome

ORPHA:168563

Nephrotic syndrome without extrarenal manifestations

ORPHA:567564

Pellagra-like skin rash-neurological manifestations syndrome

ORPHA:2837

Perrault syndrome

XX gonadal dysgenesis-hearing loss syndrome · XX gonadal dysgenesis-deafness syndrome

ORPHA:2855

Perrault syndrome type 2

XX gonadal dysgenesis-deafness syndrome-progressive neurological manifestations

ORPHA:642976