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 ×

Autosomal dominant spastic paraplegia type 17

SPG17 · Silver syndrome

ORPHA:100998

3-methylglutaconic aciduria type 3

Autosomal recessive optic atrophy plus syndrome · Autosomal recessive optic atrophy type 3

ORPHA:67047

Hereditary spastic paraplegia

Familial spastic paraplegia · HSP

ORPHA:685

Spastic paraplegia type 2

SPG2 · Spastic gait type 2

ORPHA:99015

Spastic paraplegia type 7

SPG7

ORPHA:99013

Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder

SPOAN and SPOAN-related disorder

ORPHA:431320

Spastic paraplegia-optic atrophy-neuropathy syndrome

SPOAN

ORPHA:320406