Rare Disease Library

Isolated polycystic liver disease

ADPCLD · Autosomal dominant polycystic liver disease

Autosomal dominant Charcot-Marie-Tooth disease type 2

Autosomal dominant axonal Charcot-Marie-Tooth disease · CMT2

Autosomal dominant Charcot-Marie-Tooth disease type 2A1

CMT2A1

Autosomal dominant Charcot-Marie-Tooth disease type 2A2

CMT2A2

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 2DD

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

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 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 intermediate Charcot-Marie-Tooth disease with neuropathic pain

Autosomal dominant intermediate CMT disease with neuropathic pain

Autosomal dominant keratitis

Hereditary keratitis

Autosomal dominant optic atrophy

DOA · ADOA

Autosomal dominant optic atrophy and cataract

Autosomal dominant optic atrophy type 3 · OPA3, autosomal dominant

Autosomal dominant polycystic kidney disease

ADPKD

Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis

Bourneville disease · PKDTS

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 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 tubulointerstitial kidney disease

Familial juvenile hyperuricemic nephropathy · ADTKD

Autosomal recessive polycystic kidney disease

AR-PKD

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

Hereditary late-onset Parkinson disease

Autosomal dominant late-onset Parkinson disease · LOPD