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"

129 matching diseasesClear search ×

Autosomal dominant generalized epidermolysis bullosa simplex, severe form

Epidermolysis bullosa simplex, Dowling-Meara type · Autosomal dominant generalized EBS, severe form

ORPHA:79396

Autosomal dominant hereditary chronic pancreatitis

ORPHA:676

Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency

AD-HIES due to STAT3 deficiency · Autosomal dominant HIES due to STAT3 deficiency

ORPHA:2314

Autosomal dominant hypocalcemia

AD hypocalcemia

ORPHA:428

Autosomal dominant hypophosphatemic rickets

ADHR · Autosomal dominant hypophosphatemia

ORPHA:89937

Autosomal dominant Kenny-Caffey syndrome

ORPHA:93325

Autosomal dominant keratitis

Hereditary keratitis

ORPHA:2334

Autosomal dominant limb-girdle muscular dystrophy

ORPHA:102014

Autosomal dominant macrothrombocytopenia

ORPHA:140957

Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency

Autosomal dominant MSMD due to a partial deficiency

ORPHA:319543

Autosomal dominant multiple pterygium syndrome

Distal arthrogryposis type 8

ORPHA:65743

Autosomal dominant myoglobinuria

ORPHA:99846

Autosomal dominant myosin storage myopathy

MSMA

ORPHA:636965

Autosomal dominant omodysplasia

ORPHA:93328

Autosomal dominant optic atrophy

DOA · ADOA

ORPHA:98672

Autosomal dominant optic atrophy and cataract

Autosomal dominant optic atrophy type 3 · OPA3, autosomal dominant

ORPHA:67036

Autosomal dominant optic atrophy and congenital deafness

Konigsmark-Knox-Hussels syndrome · Autosomal dominant optic atrophy and congenital hearing loss

ORPHA:3212

Autosomal dominant optic atrophy plus syndrome

ADOA+ · DOA+

ORPHA:1215

Autosomal dominant optic atrophy, classic form

Autosomal dominant optic atrophy, Kjer type · Kjer optic atrophy

ORPHA:98673

Autosomal dominant osteopetrosis type 1

ORPHA:2783

Autosomal dominant polycystic kidney disease

ADPKD

ORPHA:730

Autosomal dominant popliteal pterygium syndrome

Facio-genito-popliteal syndrome · Popliteal web syndrome

ORPHA:1300

Autosomal dominant primary hypomagnesemia with hypocalciuria

HOMG2 · Isolated autosomal dominant hypomagnesemia

ORPHA:34528

Autosomal dominant primary microcephaly

ORPHA:2514

Autosomal dominant prognathism

ORPHA:2964

Autosomal dominant proximal renal tubular acidosis

AD pRTA

ORPHA:314889

Autosomal dominant proximal spinal muscular atrophy

Kugelberg-Welander disease · SMA

ORPHA:211037

Autosomal dominant pure spastic paraplegia

Autosomal dominant pure HSP · Autosomal dominant pure SPG

ORPHA:100980

Autosomal dominant rhegmatogenous retinal detachment

ORPHA:209867

Autosomal dominant Robinow syndrome

ORPHA:3107

Autosomal dominant secondary polycythemia

Autosomal dominant secondary erythrocytosis

ORPHA:247511

Autosomal dominant severe congenital neutropenia

ORPHA:486

Autosomal dominant slowed nerve conduction velocity

ORPHA:140481

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