Rare Disease Library

Hereditary late-onset Parkinson disease

Autosomal dominant late-onset Parkinson disease · LOPD

Adult-onset autosomal dominant leukodystrophy

ADLD · Adult-onset autosomal dominant demyelinating leukodystrophy

Autosomal dominant adult-onset proximal spinal muscular atrophy

Autosomal dominant adult-onset proximal SMA · Autosomal dominant late-onset spinal muscular atrophy, Finkel type

Autosomal dominant Charcot-Marie-Tooth disease type 2

Autosomal dominant axonal Charcot-Marie-Tooth disease · CMT2

Autosomal dominant Charcot-Marie-Tooth disease type 2B

CMT2B

Autosomal dominant Charcot-Marie-Tooth disease type 2C

CMT2C

Autosomal dominant Charcot-Marie-Tooth disease type 2D

CMT2D

Autosomal dominant Charcot-Marie-Tooth disease type 2E

CMT2E

Autosomal dominant Charcot-Marie-Tooth disease type 2F

CMT2F

Autosomal dominant Charcot-Marie-Tooth disease type 2G

CMT2G

Autosomal dominant Charcot-Marie-Tooth disease type 2I

CMT2I

Autosomal dominant Charcot-Marie-Tooth disease type 2J

CMT2J

Autosomal dominant Charcot-Marie-Tooth disease type 2K

CMT2K

Autosomal dominant Charcot-Marie-Tooth disease type 2L

CMT2L

Autosomal dominant Charcot-Marie-Tooth disease type 2M

CMT2M

Autosomal dominant Charcot-Marie-Tooth disease type 2N

CMT2N

Autosomal dominant Charcot-Marie-Tooth disease type 2O

CMT2O

Autosomal dominant Charcot-Marie-Tooth disease type 2Q

CMT2Q

Autosomal dominant Charcot-Marie-Tooth disease type 2U

Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation · CMT2U

Autosomal dominant Charcot-Marie-Tooth disease type 2V

Autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation · CMT2V

Autosomal dominant Charcot-Marie-Tooth disease type 2W

CMT2W · Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation

Autosomal dominant Charcot-Marie-Tooth disease type 2Y

CMT2 due to VCP mutation · CMT2Y

Autosomal dominant Charcot-Marie-Tooth disease type 2Z

Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation · CMT2Z

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 intermediate Charcot-Marie-Tooth disease

CMTDI

Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain

Autosomal dominant intermediate CMT disease with neuropathic pain

Autosomal dominant optic atrophy and cataract

Autosomal dominant optic atrophy type 3 · OPA3, autosomal dominant

Autosomal dominant polycystic kidney disease

ADPKD

Autosomal dominant pure spastic paraplegia

Autosomal dominant pure HSP · Autosomal dominant pure SPG

Autosomal dominant tubulointerstitial kidney disease

Familial juvenile hyperuricemic nephropathy · ADTKD

Congenital hereditary endothelial dystrophy type I

Autosomal dominant CHED · Autosomal dominant congenital hereditary endothelial dystrophy

Early-onset autosomal dominant Alzheimer disease

EOFAD · Early-onset familial autosomal dominant Alzheimer disease

Glycogen storage disease due to acid maltase deficiency, late-onset

GSD type II, late-onset · Glycogen storage disease type II, late-onset

HTRA1-related autosomal dominant cerebral small vessel disease

HTRA1-related autosomal dominant cerebral angiopathy

Isolated polycystic liver disease

ADPCLD · Autosomal dominant polycystic liver disease

Late-infantile/juvenile Krabbe disease

Krabbe disease, late-onset

Late-onset retinal degeneration

Autosomal dominant late-onset retinal degeneration · LORD

OBSOLETE: Autosomal dominant optic atrophy and late-onset deafness

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

Young-onset Parkinson disease

Early-onset Parkinson disease · YOPD