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"

192 matching diseasesClear search ×

PASH syndrome

Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome

ORPHA:289478

PASS syndrome

Pyoderma gangrenosum-acne-hidradenitis suppurativa-ankylosing spondylitis syndrome

ORPHA:641385

Isolated pulmonary artery sling

PAS · Isolated anomalous left pulmonary artery

ORPHA:658574

Placenta accreta spectrum disorder

PAS · Abnormally invasive placenta

ORPHA:662721

Activated PI3K-delta syndrome

PASLI · APDS

ORPHA:397596

Activated PI3K-delta syndrome 1

Senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta activating mutations, type 1 · Activated p110delta syndrome, type 1

ORPHA:693661

Activated PI3K-delta syndrome 2

APDS type 2 · APDS2

ORPHA:693681

Blepharonasofacial malformation syndrome

Pashayan syndrome · Pashayan-Pruzansky syndrome

ORPHA:1252

Cerebrofaciothoracic dysplasia

Pascual-Castroviejo syndrome type 1

ORPHA:1394

Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome

Passwell-Goodman-Siprkowski syndrome

ORPHA:2278

PHACE syndrome

Pascual-Castroviejo syndrome type 2 · PHACES syndrome

ORPHA:42775

Adult familial nephronophthisis-spastic quadriparesia syndrome

ORPHA:2666

Atrophoderma of Pasini and Pierini

ORPHA:658810

Autosomal dominant complex spastic paraplegia

Autosomal dominant complex HSP · Autosomal dominant complex SPG

ORPHA:100979

Autosomal dominant dystrophic epidermolysis bullosa, Pasini type

DDEB, Pasini type

ORPHA:216989

Autosomal dominant pure spastic paraplegia

Autosomal dominant pure HSP · Autosomal dominant pure SPG

ORPHA:100980

Autosomal dominant spastic ataxia

AD-SPAX

ORPHA:316235

Autosomal dominant spastic ataxia type 1

SPAX1

ORPHA:251282

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 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 recessive cerebellar ataxia with late-onset spasticity

Autosomal recessive cerebellar ataxia due to GBA2 deficiency

ORPHA:352641

Autosomal recessive complex spastic paraplegia

Autosomal recessive complex HSP · Autosomal recessive complex SPG

ORPHA:100981

Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction

Autosomal recessive complex SPG due to Kennedy pathway dysfunction · Autosomal recessive spastic paraplegia type 81

ORPHA:506353

Autosomal recessive pure spastic paraplegia

Autosomal recessive pure HSP · Autosomal recessive pure SPG

ORPHA:100982

Autosomal recessive spastic ataxia

AR-SPAX

ORPHA:316240

Autosomal recessive spastic ataxia of Charlevoix-Saguenay

Autosomal recessive spastic ataxia type 6 · ARSACS

ORPHA:98

Autosomal recessive spastic ataxia with leukoencephalopathy

ARSAL · Autosomal recessive spastic ataxia type 3

ORPHA:314603

Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome

Autosomal recessive spastic ataxia type 4 · SPAX4

ORPHA:254343

Autosomal recessive spastic paraplegia type 11

Nakamura-Osame syndrome · SPG11

ORPHA:2822

Autosomal recessive spastic paraplegia type 14

SPG14

ORPHA:100995