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"

16 matching diseasesClear search ×

MT-ATP6-related mitochondrial spastic paraplegia

Maternally-inherited spastic paraplegia · Maternally-inherited SPG

ORPHA:320360

Complex hereditary spastic paraplegia

Complex HSP · Complex SPG

ORPHA:102013

Hereditary spastic paraplegia

Familial spastic paraplegia · HSP

ORPHA:685

IFIH1-related hereditary spastic paraplegia

Interferon induced with helicase C domain 1-related hereditary spastic paraplegia

ORPHA:689231

Inherited congenital spastic tetraplegia

Inherited congenital spastic quadriplegia

ORPHA:210141

Mitochondrial DNA-associated Leigh syndrome

mtDNA-associated Leigh syndrome · MILS

ORPHA:255210

Mitochondrial DNA-related dystonia

Maternally-inherited mitochondrial dystonia · mtDNA-related dystonia

ORPHA:254851

Mitochondrial DNA-related progressive external ophthalmoplegia

Maternally-inherited CPEO · Maternally-inherited chronic progressive external ophthalmoplegia

ORPHA:663

Pure hereditary spastic paraplegia

Pure HSP · Pure SPG

ORPHA:102012

RNASEH2B-related hereditary spastic paraplegia

Ribonuclease H2 subunit B-related hereditary spastic paraplegia

ORPHA:689234

Spastic paraplegia type 2

SPG2 · Spastic gait type 2

ORPHA:99015

Spastic paraplegia type 7

SPG7

ORPHA:99013

X-linked complex spastic paraplegia

Complex X-linked HSP · Complex X-linked SPG

ORPHA:98888

X-linked pure spastic paraplegia

ORPHA:320332

X-linked spastic paraplegia type 16

SPG16

ORPHA:100997

X-linked spastic paraplegia type 34

SPG34

ORPHA:171607