Rare Disease Library

Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation

CMT2 due to TFG mutation

Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons

Autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons · CMT2 with giant axons

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 childhood-onset proximal spinal muscular atrophy

Kugelberg-Welander disease · Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy

Autosomal dominant chorioretinopathy-microcephaly syndrome

Autosomal dominant combined immunodeficiency due to ERBIN deficiency

AD-CID due to ERBIN deficiency · Autosomal dominant combined immunodeficiency due to erbb2 interacting protein deficiency

Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency

Autosomal dominant combined immunodeficiency due to partial glycoprotein 130 deficiency · Autosomal dominant combined immunodeficiency due to partial interleukin 6 signal transducer protein deficiency

Autosomal dominant complex spastic paraplegia

Autosomal dominant complex HSP · Autosomal dominant complex SPG

Autosomal dominant congenital benign spinal muscular atrophy

Autosomal dominant benign distal spinal muscular atrophy · Congenital benign spinal muscular atrophy with contractures

Autosomal dominant cutis laxa

ADCL

Autosomal dominant deafness-onychodystrophy syndrome

DDOD syndrome · Autosomal dominant hearing loss-onychodystrophy syndrome

Autosomal dominant diffuse mutilating palmoplantar keratoderma

Autosomal dominant diffuse mutilating palmoplantar hyperkeratosis

Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature

Autosomal dominant disease associated with punctate palmoplantar hyperkeratosis as a major feature

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 dystrophic epidermolysis bullosa, Cockayne-Touraine type

DDEB, Cockayne-Touraine type

Autosomal dominant dystrophic epidermolysis bullosa, Pasini type

DDEB, Pasini type

Autosomal dominant Emery-Dreifuss muscular dystrophy

EDMD2

Autosomal dominant epidermolytic ichthyosis

BCIE · Bullous congenital ichthyosiform erythroderma

Autosomal dominant focal dystonia, DYT25 type

DYT25 · Dystonia 25

Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering

Autosomal dominant generalized dystrophic epidermolysis bullosa

Generalized DDEB

Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form

Epidermolysis bullosa simplex, Koebner type · Epidermolysis bullosa simplex, Köbner type

Autosomal dominant generalized epidermolysis bullosa simplex, severe form

Epidermolysis bullosa simplex, Dowling-Meara type · Autosomal dominant generalized EBS, severe form