Rare Disease Library

Epithelial recurrent erosion dystrophy

Dystrophia Smolandiensis · ERED

Albright hereditary osteodystrophy

Autosomal dominant distal hereditary motor neuropathy

Autosomal dominant dHMN · Autosomal dominant distal spinal muscular atrophy

Autosomal dominant hereditary axonal motor and sensory neuropathy

Autosomal dominant hereditary chronic pancreatitis

Autosomal dominant hereditary demyelinating motor and sensory neuropathy

Autosomal dominant hereditary sensory and autonomic neuropathy

Autosomal recessive axonal hereditary motor and sensory neuropathy

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

Autosomal recessive distal hereditary motor neuropathy

Autosomal recessive distal spinal muscular atrophy · Autosomal recessive dHMN

Autosomal recessive hereditary chronic pancreatitis

Autosomal recessive hereditary demyelinating motor and sensory neuropathy

Autosomal recessive hereditary sensory and autonomic neuropathy

Axonal hereditary motor and sensory neuropathy

Axonal HMSN

Benign hereditary chorea

BHC · Benign familial chorea

Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy

CMT/HMSN · Charcot-Marie-Tooth hereditary neuropathy

Common hereditary elliptocytosis

Complex hereditary spastic paraplegia

Complex HSP · Complex SPG

Congenital hereditary endothelial dystrophy type I

Autosomal dominant CHED · Autosomal dominant congenital hereditary endothelial dystrophy

Congenital hereditary endothelial dystrophy type II

Congenital hereditary endothelial dystrophy type 2 · Infantile hereditary endothelial dystrophy

Congenital hereditary facial paralysis-variable hearing loss syndrome

Congenital hereditary facial paralysis-variable deafness syndrome · Congenital hereditary facial palsy with variable deafness

COQ7-related distal hereditary motor neuropathy

Dehydrated hereditary stomatocytosis

Hereditary xerocytosis

Demyelinating hereditary motor and sensory neuropathy

Demyelinating HMSN

Distal hereditary motor neuropathy

Distal spinal muscular atrophy · dHMN

Distal hereditary motor neuropathy type 1

Autosomal dominant distal juvenile spinal muscular atrophy type 1 · dHMN1

Distal hereditary motor neuropathy type 2

Distal spinal muscular atrophy type 2 · dHMN2

Distal hereditary motor neuropathy type 5

Distal hereditary motor neuropathy type V · Distal HMN V

Distal hereditary motor neuropathy type 7

Distal spinal muscular atrophy with vocal cord paralysis · dHMN7

Distal hereditary motor neuropathy, Jerash type

Autosomal recessive distal spinal muscular atrophy type 2 · dHMNJ

Distal muscle weakness-foot deformity-elevated sorbitol level-hereditary motor neuropathy

Sorbitol dehydrogenase deficiency

Dyschromatosis symmetrica hereditaria

Acropigmentation of Dohi

Dyschromatosis universalis hereditaria

Embryonal tumor with multilayered rosettes

ETMR

Erythema palmare hereditarium

Lane disease · Red palms disease

F12-related hereditary angioedema with normal C1Inh

F12-related HAE with normal C1 inhibitor · HAE

Hereditary acrokeratotic poikiloderma

Weary syndrome

Hereditary amyloidosis

Hereditary amyloidosis with primary renal involvement

Amyloidosis, Ostertag type · Familial amyloid nephropathy

Hereditary angioedema

Familial angioneurotic edema · HAE

Hereditary angioedema type 1

HAE · HAE 1

Hereditary angioedema type 2

HAE · HAE 2

Hereditary angioedema with C1Inh deficiency

HAE · HAE with C1 inhibitor deficiency

Hereditary angioedema with normal C1Inh

HAE · HAE with normal C1 inhibitor

Hereditary angioedema with normal C1Inh not related to F12 or PLG variant

HAE

Hereditary arginine vasopressin deficiency

Hereditary CDI · Hereditary neurogenic diabetes insipidus

Hereditary arterial and articular multiple calcification syndrome

CALJA · Calcification of joints and arteries

Hereditary ataxia

Hereditary atrial fibrillation