Rare Disease Library

Bartonella bacilliformis infection

Bartonellosis due to infection with Bartonella bacilliformis · Carrion disease

Bartsocas-Papas syndrome

Autosomal recessive popliteal pterygium syndrome · Lethal popliteal pterygium syndrome

Bartter syndrome

Renal tubular normotensive hypokalemic alkalosis with hypercalciuria · Salt-losing tubular disorder, Henle's loop type

Bartter syndrome type 1

Bartter syndrome type I

Bartter syndrome type 2

Bartter syndrome type II

Bartter syndrome type 3

Bartter syndrome type III

Bartter syndrome type 4

Bartter syndrome with sensorineural hearing loss · Bartter syndrome with sensorineural deafness

Bartter syndrome with hypocalcemia

Basal encephalocele

Basel-Vanagaite-Smirin-Yosef syndrome

Bathing suit ichthyosis

BSI

Bazex syndrome

Acrokeratosis of Bazex · Acrokeratosis paraneoplastica

Bazex-Dupré-Christol syndrome

BDCS · Follicular atrophoderma and basal cell carcinomas

Becker muscular dystrophy

BMD · Becker dystrophinopathy

Becker nevus syndrome

Pigmented hairy epidermal naevus · Becker naevus syndrome

Beckwith-Wiedemann syndrome

BWS · Exomphalos-macroglossia-gigantism syndrome

Beckwith-Wiedemann syndrome due to 11p15 microdeletion

Beckwith-Wiedemann syndrome due to 11p15 microduplication

Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion

Beckwith-Wiedemann syndrome due to CDKN1C mutation

Beckwith-Wiedemann syndrome due to imprinting defect of 11p15

Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11

Mosaic paternal uniparental disomy of chromosome 11 · UPD(11)pat

Beemer-Ertbruggen syndrome

Lethal hydrocephalus-cardiac malformation-dense bones syndrome

Behavioral variant of frontotemporal dementia

bv-FTD

Behçet disease

Behr syndrome

Behr complicated familial optic atrophy

Bencze syndrome

Hemifacial hyperplasia-strabismus syndrome

Benign atrophic papulosis

BAP

Benign cephalic histiocytosis

Benign concentric annular macular dystrophy

Benign epithelial tumor of salivary glands

Benign focal seizures of adolescence

Adolescent benign focal crisis

Benign hereditary chorea

BHC · Benign familial chorea

Benign idiopathic neonatal seizures

BINS · Benign nonfamilial neonatal seizures

Benign infantile focal epilepsy with midline spikes and waves during sleep

BIMSE

Benign metanephric tumor

Benign nocturnal alternating hemiplegia of childhood

Benign non-familial infantile seizures

Benign paroxysmal tonic upgaze of childhood with ataxia

Ouvrier-Billson syndrome

Benign paroxysmal torticollis of infancy

Benign partial epilepsy of infancy with complex partial seizures

Benign partial epilepsy with secondarily generalized seizures in infancy

Benign partial infantile seizures

Benign peripheral nerve sheath tumor

BPNST

Benign recurrent intrahepatic cholestasis

BRIC · Summerskill-Walshe-Tygstrup syndrome

Benign recurrent intrahepatic cholestasis type 1

BRIC type 1 · BRIC1

Benign recurrent intrahepatic cholestasis type 2

BRIC type 2 · BRIC2

Benign Samaritan congenital myopathy