Rare Disease Library

Hereditary gingival fibromatosis

Autosomal dominant gingival fibromatosis · Autosomal dominant gingival hyperplasia

Albers-Schönberg osteopetrosis

Osteopetrosis autosomal dominant type 2

Autosomal dominant Alport syndrome

Autosomal dominant brachyolmia

Brachyolmia type 3

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 distal renal tubular acidosis

AD dRTA

Autosomal dominant dopa-responsive dystonia

Autosomal dominant Segawa syndrome · DYT5a

Autosomal dominant epidermolytic ichthyosis

BCIE · Bullous congenital ichthyosiform erythroderma

Autosomal dominant hypocalcemia

AD hypocalcemia

Autosomal dominant keratitis

Hereditary keratitis

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 osteopetrosis type 1

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 spondylocostal dysostosis

Autosomal dominant spondylocostal dysplasia

Congenital hereditary endothelial dystrophy type I

Autosomal dominant CHED · Autosomal dominant congenital hereditary endothelial dystrophy

Endosteal hyperostosis, Worth type

Autosomal dominant osteosclerosis, Worth type · Worth syndrome

Gingival fibromatosis-facial dysmorphism syndrome

Gingival fibromatosis-hypertrichosis syndrome

CGHT · Congenital generalized hypertrichosis terminalis

Gingival fibromatosis-progressive deafness syndrome

Jones syndrome · Gingival fibromatosis-progressive hearing loss syndrome

OBSOLETE: Hemochromatosis type 4

OBSOLETE: Ferroportin disease · OBSOLETE: Hemochromatosis due to defect in ferroportin

Renal pseudohypoaldosteronism type 1

Renal PHA1 · Autosomal dominant pseudohypoaldosteronism type 1