Rare Disease Library

Unstable beta globin chain variant disease

Inclusion body beta-thalassemia · Autosomal dominant beta-thalassemia

Albers-Schönberg osteopetrosis

Osteopetrosis autosomal dominant type 2

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 cerebellar ataxia type I

ADCA1 · ADCAI

Autosomal dominant cerebellar ataxia type II

ADCA2 · ADCAII

Autosomal dominant cerebellar ataxia type III

ADCA3 · ADCAIII

Autosomal dominant cerebellar ataxia type IV

ADCA4 · ADCAIV

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 hypophosphatemic rickets

ADHR · Autosomal dominant hypophosphatemia

Autosomal dominant keratitis

Hereditary keratitis

Autosomal dominant macrothrombocytopenia

Autosomal dominant myoglobinuria

Autosomal dominant omodysplasia

Autosomal dominant optic atrophy

DOA · ADOA

Autosomal dominant optic atrophy and cataract

Autosomal dominant optic atrophy type 3 · OPA3, autosomal dominant

Autosomal dominant optic atrophy, classic form

Autosomal dominant optic atrophy, Kjer type · Kjer optic atrophy

Autosomal dominant osteopetrosis type 1

Autosomal dominant primary hypomagnesemia with hypocalciuria

HOMG2 · Isolated autosomal dominant hypomagnesemia

Autosomal dominant primary microcephaly

Autosomal dominant prognathism

Autosomal dominant pure spastic paraplegia

Autosomal dominant pure HSP · Autosomal dominant pure SPG

Autosomal dominant Robinow syndrome

Autosomal dominant secondary polycythemia

Autosomal dominant secondary erythrocytosis

Autosomal dominant spastic ataxia

AD-SPAX

Autosomal dominant spastic ataxia type 1

SPAX1

Autosomal dominant spastic paraplegia type 3

Strümpell disease · Autosomal dominant spastic paraplegia type 3A

Autosomal dominant spastic paraplegia type 4

SPG4

Autosomal dominant spastic paraplegia type 6

SPG6

Autosomal dominant spastic paraplegia type 8

SPG8

Autosomal dominant spondylocostal dysostosis

Autosomal dominant spondylocostal dysplasia

Beta-thalassemia

Beta-thalassemia intermedia

Non-transfusion dependent beta-thalassemia · Beta-NTDT

Beta-thalassemia major

Cooley anemia · Mediterranean anemia

Congenital hereditary endothelial dystrophy type I

Autosomal dominant CHED · Autosomal dominant congenital hereditary endothelial dystrophy

Delta-beta-thalassemia

Hemoglobin C-beta-thalassemia syndrome

C-beta-thalassemia · HbC-beta-thalassemia syndrome

Hemoglobin E-beta-thalassemia syndrome

E-beta-thalassemia · HbE-beta-thalassemia syndrome

Hemoglobin M disease

M hemoglobinopathy · Autosomal dominant methemoglobinemia

Hereditary gingival fibromatosis

Autosomal dominant gingival fibromatosis · Autosomal dominant gingival hyperplasia