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"

82 matching diseasesClear search ×

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 29

SPG29

ORPHA:101009

Autosomal dominant spastic paraplegia type 3

Strümpell disease · Autosomal dominant spastic paraplegia type 3A

ORPHA:100984

Autosomal dominant spastic paraplegia type 31

SPG31

ORPHA:101011

Autosomal dominant spastic paraplegia type 36

SPG36

ORPHA:320365

Autosomal dominant spastic paraplegia type 37

SPG37

ORPHA:171612

Autosomal dominant spastic paraplegia type 38

SPG38

ORPHA:171617

Autosomal dominant spastic paraplegia type 4

SPG4

ORPHA:100985

Autosomal dominant spastic paraplegia type 41

SPG41

ORPHA:320355

Autosomal dominant spastic paraplegia type 42

SPG42

ORPHA:171863

Autosomal dominant spastic paraplegia type 6

SPG6

ORPHA:100988

Autosomal dominant spastic paraplegia type 73

SPG73

ORPHA:444099

Autosomal dominant spastic paraplegia type 8

SPG8

ORPHA:100989

Autosomal dominant spastic paraplegia type 80

ORPHA:631068

Autosomal dominant spastic paraplegia type 9A

Cataracts-motor neuropathy-short stature-skeletal anomalies syndrome · Spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome

ORPHA:447753

Autosomal dominant spastic paraplegia type 9B

AD-SPG9B

ORPHA:447757

Autosomal dominant spondylocostal dysostosis

Autosomal dominant spondylocostal dysplasia

ORPHA:1797

Autosomal dominant striatal neurodegeneration

ADSD

ORPHA:228169

Autosomal recessive complex spastic paraplegia

Autosomal recessive complex HSP · Autosomal recessive complex SPG

ORPHA:100981

Complex hereditary spastic paraplegia

Complex HSP · Complex SPG

ORPHA:102013

Congenital hereditary endothelial dystrophy type I

Autosomal dominant CHED · Autosomal dominant congenital hereditary endothelial dystrophy

ORPHA:98975

Cystoid macular dystrophy

Autosomal dominant cystoid macular edema · DCMD

ORPHA:75381

Familial adult myoclonic epilepsy

ADCME · Autosomal dominant cortical myoclonus and epilepsy

ORPHA:86814

Hemoglobin M disease

M hemoglobinopathy · Autosomal dominant methemoglobinemia

ORPHA:330041

Hereditary gingival fibromatosis

Autosomal dominant gingival fibromatosis · Autosomal dominant gingival hyperplasia

ORPHA:2024

MME-related autosomal dominant Charcot Marie Tooth disease type 2

MME-related autosomal dominant CMT2 · MME-related autosomal dominant hereditary motor and sensory neuropathy type 2

ORPHA:497757

OBSOLETE: Autosomal dominant coarctation of aorta

ORPHA:1455

OBSOLETE: Autosomal dominant Opitz G/BBB syndrome

OBSOLETE: Autosomal dominant Opitz BBB/G syndrome · OBSOLETE: ADOS

ORPHA:306588

Pure or complex autosomal dominant spastic paraplegia

Pure or complicated autosomal dominant spastic paraplegia

ORPHA:320342

Renal pseudohypoaldosteronism type 1

Renal PHA1 · Autosomal dominant pseudohypoaldosteronism type 1

ORPHA:171871

Spastic ataxia with congenital miosis

SPAX7 · Autosomal dominant spastic ataxia type 7

ORPHA:1182

Unstable beta globin chain variant disease

Inclusion body beta-thalassemia · Autosomal dominant beta-thalassemia

ORPHA:231226