Rare Disease Library

Autosomal dominant spondylocostal dysostosis

Autosomal dominant spondylocostal dysplasia

Autosomal dominant Alport syndrome

Autosomal dominant aplasia and myelodysplasia

Autosomal dominant aplastic anemia and myelodysplasia

Autosomal dominant brachyolmia

Brachyolmia type 3

Autosomal dominant cerebellar ataxia

ADCA · Autosomal dominant spinocerebellar ataxia

Autosomal dominant complex spastic paraplegia

Autosomal dominant complex HSP · Autosomal dominant complex SPG

Autosomal dominant cutis laxa

ADCL

Autosomal dominant distal hereditary motor neuropathy

Autosomal dominant dHMN · Autosomal dominant distal spinal muscular atrophy

Autosomal dominant distal myopathy

Autosomal dominant dopa-responsive dystonia

Autosomal dominant Segawa syndrome · DYT5a

Autosomal dominant focal dystonia, DYT25 type

DYT25 · Dystonia 25

Autosomal dominant hypocalcemia

AD hypocalcemia

Autosomal dominant hypohidrotic ectodermal dysplasia

AD-HED

Autosomal dominant keratitis

Hereditary keratitis

Autosomal dominant myoglobinuria

Autosomal dominant omodysplasia

Autosomal dominant optic atrophy and cataract

Autosomal dominant optic atrophy type 3 · OPA3, autosomal dominant

Autosomal dominant otospondylomegaepiphyseal dysplasia

AD OSMED · Stickler syndrome type 3

Autosomal dominant prognathism

Autosomal dominant pure spastic paraplegia

Autosomal dominant pure HSP · Autosomal dominant pure SPG

Autosomal dominant secondary polycythemia

Autosomal dominant secondary erythrocytosis

Autosomal dominant spastic ataxia

AD-SPAX

Autosomal dominant spastic ataxia type 1

SPAX1

Autosomal recessive nail dysplasia

Autosomal recessive otospondylomegaepiphyseal dysplasia

OSMED

Autosomal recessive spondylocostal dysostosis

Jarcho-Levin syndrome

Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type

Axial spondylometaphyseal dysplasia

Congenital hereditary endothelial dystrophy type I

Autosomal dominant CHED · Autosomal dominant congenital hereditary endothelial dystrophy

Hereditary gingival fibromatosis

Autosomal dominant gingival fibromatosis · Autosomal dominant gingival hyperplasia

OBSOLETE: Autosomal dominant trichoodontoonychodysplasia-syndactyly

OBSOLETE: Trueb-Burg-Bottani syndrome

Oligodontia-cancer predisposition syndrome

Autosomal dominant ectodermal dysplasia-cancer predisposition syndrome

Renal pseudohypoaldosteronism type 1

Renal PHA1 · Autosomal dominant pseudohypoaldosteronism type 1

Spastic ataxia with congenital miosis

SPAX7 · Autosomal dominant spastic ataxia type 7

Spondylodysplastic dysplasia

Spondylometaphyseal dysplasia

Unstable beta globin chain variant disease

Inclusion body beta-thalassemia · Autosomal dominant beta-thalassemia