Rare Disease Library

Brain inflammatory disease

Brain malformation-congenital heart disease-postaxial polydactyly syndrome

Goossens-Devriendt syndrome

Brain-lung-thyroid syndrome

Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome

Branchial arch or oral-acral syndrome

Branchio-oculo-facial syndrome

BOFS

Branchiogenic deafness syndrome

Mégarbané-Loiselet syndrome · Branchiogenic hearing loss syndrome

Branchiootic syndrome

Branchioskeletogenital syndrome

Elsahy-Waters syndrome · BSG syndrome

Brazilian hemorrhagic fever

Sabia hemorrhagic fever

Breast implant-associated anaplastic large cell lymphoma

Breast implant-associated ALCL · Seroma-associated ALCL

BRESEK syndrome

BRESHECK syndrome

Brill-Zinsser disease

Brill disease · Recrudescent typhus

Brittle cornea syndrome

Ehlers-Danlos syndrome type 6B

Brittle hair syndrome, Sabinas type

Brittle hair-mental deficiency syndrome · Trichothiodystrophy type B

Brody myopathy

Bronchial malformation

Bronchial neuroendocrine tumor

Bronchial NET

Bronchiectasis-oligospermia syndrome

Bronchiolitis obliterans

Constrictive bronchiolitis · Obliterative bronchiolitis

Bronchogenic cyst

Bronchopulmonary dysplasia

BPD

Brooke-Spiegler syndrome

CYLD cutaneous syndrome

Brucellosis

Bruck syndrome

Osteogenesis imperfecta-congenital joint contractures syndrome

Brugada syndrome

Ventricular fibrillation, Brugada type

Budd-Chiari syndrome

BCS

Buerger disease

Thromboangiitis obliterans

Bulbospinal muscular atrophy

Kugelberg-Welander disease · SMA

Bulbospinal muscular atrophy of adult

Kugelberg-Welander disease · SMA

Bulbospinal muscular atrophy of childhood

Kugelberg-Welander disease · SMA

Bullous diffuse cutaneous mastocytosis

Bullous DCM

Bullous impetigo

Bullous lichen planus

Bullous pemphigoid

Bullous pyoderma gangrenosum

Phemphigoid pyoderma gangrenosum

Burkitt lymphoma

Small non-cleaved cell lymphoma

Burn-McKeown syndrome

Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome

Burning mouth syndrome

Stomatopyrosis · BMS

Butterfly-shaped pigment dystrophy

Butterfly-shaped pattern dystrophy · Butterfly-shaped pigmentary macular dystrophy

BVES-related limb-girdle muscular dystrophy

LGMD2X · Autosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndrome

C syndrome

OTCS · Opitz C trigonocephaly

C11ORF73-related autosomal recessive hypomyelinating leukodystrophy

C11ORF73-related autosomal recessive hypomyelinating leukoencephalopathy · Hypomyelinating leukodystrophy due to hikeshi deficiency

C12ORF65-related combined oxidative phosphorylation defect

C12ORF65-related COXPD

C3 deposition glomerulonephritis without proliferation

C3 glomerulonephritis

C3 glomerulopathy

C3 glomerulopathy · C3G

CACH syndrome

Childhood ataxia with diffuse central nervous system hypomyelination · Leukoencephalopathy with vanishing white matter

CAD-CDG

CDG-Iz · Congenital disorder of glycosylation type 1z