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"

17 matching diseasesClear search ×

Kjellin syndrome

Hereditary spastic paraparesis type 15 · Autosomal recessive spastic paraplegia type 15

ORPHA:100996

Autosomal dominant spastic paraplegia type 10

SPG10

ORPHA:100991

Autosomal dominant spastic paraplegia type 12

SPG12

ORPHA:100993

Autosomal dominant spastic paraplegia type 13

SPG13

ORPHA:100994

Autosomal dominant spastic paraplegia type 17

SPG17 · Silver syndrome

ORPHA:100998

Autosomal dominant spastic paraplegia type 19

SPG19

ORPHA:100999

Autosomal dominant spastic paraplegia type 4

SPG4

ORPHA:100985

Autosomal dominant spastic paraplegia type 6

SPG6

ORPHA:100988

Autosomal dominant spastic paraplegia type 8

SPG8

ORPHA:100989

Autosomal recessive spastic paraplegia type 11

Nakamura-Osame syndrome · SPG11

ORPHA:2822

Autosomal recessive spastic paraplegia type 14

SPG14

ORPHA:100995

Autosomal spastic paraplegia type 18

SPG18

ORPHA:209951

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

X-linked complicated spastic paraplegia type 1

SPG1

ORPHA:306617

X-linked spastic paraplegia type 16

SPG16

ORPHA:100997