Rare Disease Library

Anonychia-onychodystrophy syndrome

Anti-neutrophil cytoplasmic antibody-associated vasculitis

AAV · ANCA-associated vasculitis

Anti-p200 pemphigoid

Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome

Arachnodactyly-intellectual disability-dysmorphism syndrome

De Die-Smulders-Vles-Fryns syndrome

Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome

Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome

Arnold-Chiari malformation type I

Arnold-Chiari malformation type 1 · Chiari malformation type 1

Arrhinia-choanal atresia-microphthalmia syndrome

Arthrogryposis multiplex congenita-whistling face syndrome

Illum syndrome

Atrichia with papular lesions

Papular atrichia

Atrioventricular defect-blepharophimosis-radial and anal defect syndrome

Houlston-Ironton-Temple syndrome

Atrophic lichen planus

Atrophic LP

Atrophic papulosis

Degos disease · Köhlmeier-Degos disease

Attenuated Chédiak-Higashi syndrome

Atypical Chédiak-Higashi syndrome

Autoinflammatory syndrome of childhood

Autoinflammatory syndrome with acne and/or hidradenitis suppurativa

Autosomal dominant childhood-onset proximal spinal muscular atrophy

Kugelberg-Welander disease · Lower extremity-predominant autosomal dominant proximal 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 generalized dystrophic epidermolysis bullosa

Generalized DDEB

Autosomal dominant hypohidrotic ectodermal dysplasia

AD-HED

Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation

H1-4-related neurodevelopmental disorder · Rahman syndrome

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

Autosomal dominant intermediate CMT disease with neuropathic pain

Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome

Autosomal dominant myopia-midfacial retrusion-sensorineural deafness-rhizomelic dysplasia syndrome

Autosomal dominant prognathism

Autosomal recessive bestrophinopathy

Retinopathy, Burgess-Black type

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 hypohidrotic ectodermal dysplasia

AR-HED

Autosomal recessive lower motor neuron disease with childhood onset

Autosomal recessive distal spinal muscular atrophy type 4 · Distal spinal muscular atrophy type 4

Autosomal semi-dominant severe lipodystrophic laminopathy

Bathing suit ichthyosis

BSI

Benign atrophic papulosis

BAP

Benign cephalic histiocytosis

Benign idiopathic neonatal seizures

BINS · Benign nonfamilial neonatal seizures

Benign nocturnal alternating hemiplegia of childhood

Benign paroxysmal tonic upgaze of childhood with ataxia

Ouvrier-Billson syndrome

Beta-ketothiolase deficiency

3-ketothiolase deficiency · 3-oxothiolase deficiency

Beta-thalassemia-trichothiodystrophy syndrome

BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy

BICD2-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures · Kugelberg-Welander disease

Biotin-thiamine-responsive basal ganglia disease

BBGD · BTBGD

Bleeding disorder in hemophilia A carriers

Bleeding disorder in hemophilia B carriers

Blepharophimosis-intellectual disability syndrome

Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency

Blepharophimosis-intellectual disability syndrome, MKB type

BMRS, MKB type · BMRS, Maat-Kievit-Brunner type

Blepharophimosis-intellectual disability syndrome, Ohdo type

BMRS, Ohdo type · Blepharophimosis syndrome, Ohdo type

Blepharophimosis-intellectual disability syndrome, SBBYS type

SBBYS variant of Ohdo syndrome · Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome