Rare Disease Library

Atrioventricular defect-blepharophimosis-radial and anal defect syndrome

Houlston-Ironton-Temple syndrome

Atrophic lichen planus

Atrophic LP

Atrophic papulosis

Degos disease · Köhlmeier-Degos disease

Atrophoderma of Pasini and Pierini

Atrophoderma vermiculata

Folliculitis ulerythematosa reticulate

Auditory neuropathy-optic atrophy syndrome

Autoimmune/inflammatory optic neuropathy

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 childhood-onset proximal spinal muscular atrophy

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

Autosomal dominant congenital benign spinal muscular atrophy

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

Autosomal dominant deafness-onychodystrophy syndrome

DDOD syndrome · Autosomal dominant hearing loss-onychodystrophy syndrome

Autosomal dominant distal hereditary motor neuropathy

Autosomal dominant dHMN · Autosomal dominant distal spinal muscular atrophy

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 generalized dystrophic epidermolysis bullosa

Generalized DDEB

Autosomal dominant hereditary axonal motor and sensory neuropathy

Autosomal dominant hereditary demyelinating motor and sensory neuropathy

Autosomal dominant hereditary sensory and autonomic neuropathy

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

Autosomal dominant intermediate CMT disease with neuropathic pain

Autosomal dominant limb-girdle muscular dystrophy

Autosomal dominant limb-girdle muscular dystrophy type 1A

LGMD1A · Limb-girdle muscular dystrophy due to myotilin deficiency

Autosomal dominant limb-girdle muscular dystrophy type 1B

LGMD1B · Limb-girdle muscular dystrophy due to lamin A/C deficiency

Autosomal dominant limb-girdle muscular dystrophy type 1C

LGMD1C · Limb-girdle muscular dystrophy due to caveolin-3 deficiency

Autosomal dominant limb-girdle muscular dystrophy type 1E

LGMD1E

Autosomal dominant optic atrophy

DOA · ADOA

Autosomal dominant optic atrophy and cataract

Autosomal dominant optic atrophy type 3 · OPA3, autosomal dominant

Autosomal dominant optic atrophy and congenital deafness

Konigsmark-Knox-Hussels syndrome · Autosomal dominant optic atrophy and congenital hearing loss

Autosomal dominant optic atrophy and peripheral neuropathy

Autosomal dominant optic atrophy plus syndrome

ADOA+ · DOA+

Autosomal dominant optic atrophy, classic form

Autosomal dominant optic atrophy, Kjer type · Kjer optic atrophy

Autosomal dominant progressive nephropathy with hypertension

Autosomal dominant proximal spinal muscular atrophy

Kugelberg-Welander disease · SMA

Autosomal dominant severe congenital neutropenia

Autosomal erythropoietic protoporphyria

EPP

Autosomal recessive axonal hereditary motor and sensory neuropathy

AR-CMT2 · Autosomal recessive axonal Charcot-Marie-Tooth disease type 2

Autosomal recessive axonal neuropathy with neuromyotonia

ARAN-NM · ARCMT2-NM

Autosomal recessive bestrophinopathy

Retinopathy, Burgess-Black type

Autosomal recessive cerebral atrophy

Autosomal recessive distal hereditary motor neuropathy

Autosomal recessive distal spinal muscular atrophy · Autosomal recessive dHMN

Autosomal recessive Emery-Dreifuss muscular dystrophy

EDMD3

Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form

Generalized RDEB, intermediate form · Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis

Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form

Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis · Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type

Autosomal recessive hereditary demyelinating motor and sensory neuropathy

Autosomal recessive hereditary sensory and autonomic neuropathy

Autosomal recessive isolated optic atrophy

Autosomal recessive non-syndromic optic atrophy

Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy

Autosomal recessive limb-girdle muscular dystrophy