Rare Disease Library

MME-related autosomal dominant Charcot Marie Tooth disease type 2

MME-related autosomal dominant CMT2 · MME-related autosomal dominant hereditary motor and sensory neuropathy type 2

Autosomal dominant ACTN2-related distal myopathy

Autosomal dominant Alport syndrome

Autosomal dominant aplasia and myelodysplasia

Autosomal dominant aplastic anemia and myelodysplasia

Autosomal dominant brachyolmia

Brachyolmia type 3

Autosomal dominant centronuclear myopathy

AD-CNM

Autosomal dominant cerebellar ataxia

ADCA · Autosomal dominant spinocerebellar ataxia

Autosomal dominant Charcot-Marie-Tooth disease type 2DD

CMT2DD · ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2

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 nebulin myopathy

Autosomal dominant distal renal tubular acidosis

AD dRTA

Autosomal dominant dopa-responsive dystonia

Autosomal dominant Segawa syndrome · DYT5a

Autosomal dominant hypocalcemia

AD hypocalcemia

Autosomal dominant hypophosphatemic rickets

ADHR · Autosomal dominant hypophosphatemia

Autosomal dominant Kenny-Caffey syndrome

Autosomal dominant keratitis

Hereditary keratitis

Autosomal dominant macrothrombocytopenia

Autosomal dominant myoglobinuria

Autosomal dominant myosin storage myopathy

MSMA

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 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 spastic ataxia

AD-SPAX

Congenital hereditary endothelial dystrophy type I

Autosomal dominant CHED · Autosomal dominant congenital hereditary endothelial dystrophy

Cystoid macular dystrophy

Autosomal dominant cystoid macular edema · DCMD

Hemoglobin M disease

M hemoglobinopathy · Autosomal dominant methemoglobinemia

HNF1B-related autosomal dominant tubulointerstitial kidney disease

Renal cysts and diabetes syndrome · HNF1B-MODY

HTRA1-related autosomal dominant cerebral small vessel disease

HTRA1-related autosomal dominant cerebral angiopathy

Late-onset retinal degeneration

Autosomal dominant late-onset retinal degeneration · LORD

MUC1-related autosomal dominant tubulointerstitial kidney disease

MUC1-related medullary cystic kidney disease · MUCI-related ADTKD

REN-related autosomal dominant tubulointerstitial kidney disease

FJHN type 2 · Familial juvenile hyperuricemic nephropathy type 2

Renal pseudohypoaldosteronism type 1

Renal PHA1 · Autosomal dominant pseudohypoaldosteronism type 1

RNU4-2-related autosomal dominant neurodevelopmental disorder

ReNU syndrome

Sleep-related hypermotor epilepsy

ADNFLE · Autosomal dominant sleep-related hypermotor epilepsy

UMOD-related autosomal dominant tubulointerstitial kidney disease

UMOD-related ADTKD · ADTKD-UMOD

Unstable beta globin chain variant disease

Inclusion body beta-thalassemia · Autosomal dominant beta-thalassemia