List of Rare Diseases
B
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B3GALT6-related spEDS
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B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
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B4GALT1-CDG
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B4GALT7-related spondylodysplastic EDS
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B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
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Babesiosis
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Bachmann-Bupp syndrome
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Bacterial myositis
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Bacterial toxic-shock syndrome
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Bacterial TSS
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BADI
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BAFME
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Bahemuka-Brown syndrome
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Bainbridge-Roppers syndrome
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Baird syndrome
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Bakrania-Ragge syndrome
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Balantidiasis
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Balantidiosis
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Balikova-Vermeesch syndrome
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Balint-Holmes syndrome
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Balint syndrome
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B-ALL
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Ballard syndrome
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Baller-Gerold syndrome
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Ballooning cardiomyopathy
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Baló concentric sclerosis
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Bamboo hair syndrome
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Bamforth-Lazarus syndrome
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Bamforth syndrome
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Band-shaped and whorled microcystic dystrophy of the corneal epithelium
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Bangstad syndrome
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Bangungut
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Banki syndrome
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Bannayan-Riley-Ruvalcaba syndrome
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Bantu siderosis
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BAP1-related tumor predisposition syndrome
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Baraitser-Brett-Piesowicz syndrome
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Baraitser-Burn syndrome
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Baraitser-Reardon syndrome
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Baraitser-Winter cerebrofrontofacial syndrome
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Barakat syndrome
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Barber-Say syndrome
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Bardet-Biedl syndrome
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Bare lymphocyte syndrome type 1
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Bare lymphocyte syndrome type 2
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Barnes syndrome
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Baroreflex failure
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Barraquer-Simons syndrome
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Barth syndrome
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Bartonellosis due to Bartonella bacilliformis infection
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Bartonellosis due to Bartonella henselae infection
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Bartonellosis due to Bartonella quintana infection
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Bart-Pumphrey syndrome
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Bartsocas-Papas syndrome
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Bartter syndrome
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Bartter syndrome, furosemide-amiloride type
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Bartter syndrome, furosemide type
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Bartter syndrome type 3
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Bartter syndrome type 4
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Bartter syndrome type 5
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Bartter syndrome type III
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Bartter syndrome type IV
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Bartter syndrome type V
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Bartter syndrome with hypocalcemia
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Basal cell carcinoma of vulva
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Basal cell nevus syndrome
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Basal encephalocele
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Basal epidermolysis bullosa simplex
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Basan-Baird syndrome
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BASD
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BASD1
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BASD2
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BASD3
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BASD4
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Basel-Vanagaite-Sirota syndrome
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Basement membrane disease
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BASM syndrome
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Bassen-Kornzweig disease
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Bassoe syndrome
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Bathing suit ichthyosis
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Battaglia-Neri syndrome
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Batten disease
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Baughman syndrome
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Bazex-Dupré-Christol syndrome
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Bazex syndrome
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BBGD
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BBIS
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BBS
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BBSOAS
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BCD
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BCD syndrome
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B-cell chronic lymphocytic leukemia
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B-cell chronic lymphoid leukemia
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B-cell expansion with NF-kB and T-cell anergy disease
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B-cell NHL
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B-cell non-Hodgkin lymphoma
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B-cell prolymphocytic leukemia
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BCIE
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BCKD deficiency
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BCKDH deficiency
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B-CLL
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BDC
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BDCS
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Beals-Hecht syndrome
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Beals syndrome
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Bean syndrome
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Beare-Stevenson cutis gyrata syndrome
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Beaulieu-Boycott-Innes syndrome
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Becker dystrophinopathy
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Becker muscular dystrophy
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Becker nevus syndrome
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Beckwith-Wiedemann syndrome
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Beckwith-Wiedemann syndrome due to 11p15 microdeletion
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Beckwith-Wiedemann syndrome due to 11p15 microduplication
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Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
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Beckwith-Wiedemann syndrome due to CDKN1C mutation
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Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
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Beckwith-Wiedemann syndrome due to NSD1 mutation
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Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
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BECRS
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BECTS
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Bedouin spastic ataxia syndrome
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BEEC
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Beemer-Ertbruggen syndrome
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Behavioral variant of frontotemporal dementia
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Behçet disease
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Behçet-like disease due to HA20
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Behçet-like disease due to haploinsufficiency of A20
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Behrens-Baumann-Vogel syndrome
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Bellini carcinoma
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Bellini duct carcinoma
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Bellini syndrome
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Benallegue-Lacete syndrome
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Bencze syndrome
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Benign adult familial myoclonic epilepsy
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Benign adult familial myoclonus epilepsy
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Benign autosomal dominant myopathy
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Benign cephalic histiocytosis
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Benign childhood occipital epilepsy, Gastaut type
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Benign childhood occipital epilepsy, Panayiotopoulos type
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Benign chronic familial pemphigus of Hailey-Hailey
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Benign concentric annular macular dystrophy
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Benign congenital sixth cranial nerve palsy
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Benign COX deficiency
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Benign epilepsy of childhood with centrotemporal spikes
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Benign epithelial tumor of salivary glands
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Benign familial chorea
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Benign familial epilepsy of childhood with rolandic spikes
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Benign familial infantile convulsions
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Benign familial infantile epilepsy
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Benign familial infantile seizures
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Benign familial mesial temporal lobe epilepsy
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Benign familial neonatal convulsions
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Benign familial neonatal epilepsy
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Benign familial neonatal-infantile seizures
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Benign familial neonatal seizures
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Benign FMTLE
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Benign focal amyotrophy
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Benign focal seizures of adolescence
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Benign hereditary chorea
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Benign hyperferritinemia
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Benign idiopathic neonatal seizures
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Benign infantile focal epilepsy with midline spikes and waves during sleep
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Benign infantile seizures associated with mild gastroenteritis
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Benign intracranial hypertension
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Benign metanephric tumour
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Benign multicystic peritoneal mesothelioma
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Benign myoclonic epilepsy of infancy
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Benign myoclonus epilepsy of infancy
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Benign neonatal-infantile epilepsy
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Benign nocturnal alternating hemiplegia of childhood
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Benign non-familial infantile seizures
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Benign nonfamilial neonatal seizures
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Benign occipital epilepsy
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Benign paroxysmal peritonitis
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Benign paroxysmal tonic upgaze of childhood with ataxia
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Benign paroxysmal torticollis of infancy
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Benign partial epilepsy of infancy with complex partial seizures
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Benign partial epilepsy with secondarily generalized seizures in infancy
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Benign partial infantile seizures
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Benign peripheral nerve sheath tumor
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Benign recurrent intrahepatic cholestasis
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Benign recurrent intrahepatic cholestasis type 1
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Benign recurrent intrahepatic cholestasis type 2
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Benign recurrent polyserositis
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Benign rolandic epilepsy
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Benign Samaritan congenital myopathy
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Benign schwannoma
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Benign tumor of fallopian tubes
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Bennion-Patterson syndrome
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Benson syndrome
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BENTA disease
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Bent bone dysplasia
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Beradinelli-Seip syndrome
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Berant syndrome
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Berardinelli-Seip congenital lipodystrophy
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Berdon syndrome
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Berlin breakage syndrome
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Berlin syndrome
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Bernard-Soulier syndrome
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Berti lymphoma
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Berylliosis
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Besnier-Boeck-Schaumann disease
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Bessel-Hagen disease
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Best disease
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Best macular dystrophy
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Best vitelliform macular dystrophy
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Beta-1,4-galactosyltransferase deficiency
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Beta2-microglobulinic amyloidosis
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Beta3GalT6-deficient EDS
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Beta-alanine synthase deficiency
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Beta-D-galactosidase deficiency
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Beta-galactosidase-1 deficiency
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Beta-glucuronidase deficiency
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Beta-ketothiolase deficiency
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Beta-mannosidase deficiency
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Beta-mannosidosis
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Beta-mercaptolactate cysteine disulfiduria
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Beta-propeller protein-associated neurodegeneration
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Beta-sarcoglycanopathy
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Beta-thalassemia
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Beta-thalassemia and related diseases
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Beta-thalassemia associated with another Hb anomaly
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Beta-thalassemia associated with another hemoglobin anomaly
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Beta-thalassemia intermedia
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Beta-thalassemia major
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Beta-thalassemia with other manifestations
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Beta-thalassemia-X-linked thrombocytopenia syndrome
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Beta-ureidopropionase deficiency
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Bethlem myopathy
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Beukes familial hip dysplasia
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BFHD
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BFIE
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BFIS
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BFLS
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BFNIS
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BFNS
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BH4-responsive HPA/PKU
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BH4-responsive hyperphenylalaninemia/phenylketonuria
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BHC
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BHMED
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Biber-Haab-Dimmer dystrophy
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BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
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BICD2-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures
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Bicervical bicornuate uterus
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Bicervical bicornuate uterus and blind hemivagina
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Bicervical bicornuate uterus with patent cervix and vagina
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Bickel-Fanconi glycogenosis
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Bickers-Adams syndrome
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Bickerstaff brainstem encephalitis
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Bicornuate uterus
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Bidirectional tachycardia induced by catecholamine
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Biemond syndrome
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Biemond syndrome type 2
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Bietti crystalline corneoretinal dystrophy
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Bietti crystalline dystrophy
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Bietti crystalline retinopathy
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Bifid femur-monodactylous ectrodactyly syndrome
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Bifidity of the uvula
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Bifid nose
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Bifid nose with or without anorectal and renal anomalies
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Bifid uvula
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Bifunctional enzyme deficiency
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Bilateral acoustic neurofibromatosis
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Bilateral acute depigmentation of the iris
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Bilateral adrenal hemorrhage
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Bilateral and symmetric oto-mandibular dysplasia
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Bilateral anorchia
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Bilateral anterior opercular syndrome
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Bilateral band-like calcification with polymicrogyria
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Bilateral frontal polymicrogyria
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Bilateral frontoparietal polymicrogyria
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Bilateral generalized polymicrogyria
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Bilateral hereditary micro-epiphyseal dysplasia
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Bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome
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Bilateral massive adrenal hemorrhage
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Bilateral MCDK
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Bilateral microtia-deafness-cleft palate syndrome
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Bilateral multicystic dysplastic kidney
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Bilateral multicystic renal dysplasia
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Bilateral parasagittal parieto-occipital polymicrogyria
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Bilateral perisylvian polymicrogyria
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Bilateral polymicrogyria
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Bilateral striopallidodentate calcinosis
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Bilateral symmetrical thalamic gliosis
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Bile acid CoA ligase deficiency and defective amidation
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Bile acid synthesis defect with cholestasis and malabsorption
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Bile duct cancer
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Bilginturan brachydactyly
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Bilginturan syndrome
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Bilharziasis
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Biliary atresia and associated disorders
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Biliary atresia with splenic malformation syndrome
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Biliary cystadenocarcinoma
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Biliary hamartoma
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Bilirubin encephalopathy
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Bilirubin-induced neurological dysfunction
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Bilirubin-UGT deficiency
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Bilirubin-UGT deficiency type 1
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Bilirubin-UGT deficiency type 2
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Bilirubin uridinediphosphate glucuronosyltransferase deficiency
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Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1
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Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2
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Billard-Toutain-Maheut syndrome
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BIMSE
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BIND
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Binder syndrome
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Bindewald-Ulmer-Müller syndrome
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BINS
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Biological anomaly without phenotypic characterization
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Biotinidase deficiency
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Biotin-responsive basal ganglia disease
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Biotin-thiamine-responsive basal ganglia disease
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Biparietal Alzheimer disease
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Bipartite talus
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Bird fancier lung
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Bird-headed dwarfism, Montreal type
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Birdshot chorioretinitis
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Birdshot chorioretinopathy
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Birdshot retinochoroiditis
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Birdshot retinochoroidopathy
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Birt-Hogg-Dubé syndrome
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Bitemporal aplasia cutis congenita
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Bixler-Christian-Gorlin syndrome
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Björnstad syndrome
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B-K mole syndrome
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Blackfan-Diamond anemia
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Bladder exstrophy
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Bladder exstrophy-epispadias-cloacal extrophy complex
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Bladder pain syndrome
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Blake pouch cyst
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Blaschkoid lichen planus
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Blaschkoid LP
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Blastic NK-cell lymphoma
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Blastic plasmacytoid dendritic cell neoplasm
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Blastogenesis defect
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Blau syndrome
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BLC
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BLC-PMG
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Bleeding diathesis due to a collagen receptor defect
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Bleeding diathesis due to glycoprotein VI deficiency
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Bleeding diathesis due to integrin alpha2-beta1 deficiency
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Bleeding diathesis due to thromboxane synthesis deficiency
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Bleeding disorder due to ADP platelet receptor P2Y12 defect
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Bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency
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Bleeding disorder due to CalDAG-GEFI deficiency
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Bleeding disorder due to P2Y12 defect
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Blepharochalasis-double lip syndrome
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Blepharocheilodontic syndrome
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Blepharo-cheilo-odontic syndrome
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Blepharonasofacial malformation syndrome
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Blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome
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Blepharophimosis-epicanthus inversus-ptosis due to a CNV
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Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome
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Blepharophimosis-epicanthus inversus-ptosis due to copy number variations
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Blepharophimosis-epicanthus inversus-ptosis syndrome
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Blepharophimosis-intellectual disability syndrome
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Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
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Blepharophimosis-intellectual disability syndrome, MKB type
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Blepharophimosis-intellectual disability syndrome, Ohdo type
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Blepharophimosis-intellectual disability syndrome, SBBYS type
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Blepharophimosis-intellectual disability syndrome type V
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Blepharophimosis-intellectual disability syndrome, Verloes type
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Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
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Blepharophimosis syndrome, Ohdo type
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Blepharophimosis-telecanthus-microstomia syndrome
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Blepharophimosis types 1 and 2
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Blepharophimosis types 1 and 2 due to a point mutation
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Blepharophimosis types 1 and 2 due to copy number variations
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Blepharoptosis-myopia-ectopia lentis syndrome
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Blepharospasm-oromandibular dystonia syndrome
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Blindness-scoliosis-arachnodactyly syndrome
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Bloch-Siemens syndrome
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Bloch-Sulzberger syndrome
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Blomstrand chondrodysplasia
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Blomstrand lethal chondrodysplasia
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Blomstrand osteochondrodysplasia
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Bloom syndrome
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Blount disease
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Blue colour blindness
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Blue cone monochromacy
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Blue cone monochromatism
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Blue diaper syndrome
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Blue-dot cataract
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Blue rubber bleb nevus
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BMAH
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BMD
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BMD
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BMRS
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BMRS, Maat-Kievit-Brunner type
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BMRS, MKB type
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BMRS, Ohdo type
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BMRS type V
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BMRS, Verloes type
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BMS
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BNAR syndrome
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BOCD
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Bockenheimer syndrome
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Boder syndrome
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BOD syndrome
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Body cavity-based lymphoma
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Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
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Boeck sarcoid
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Boeck’s sarcoid
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BOFS
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Bohring-Opitz syndrome
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Bohring syndrome
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Boichis disease
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BOLA3 deficiency
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Bolivian hemorrhagic fever
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Bone dysplasia, lethal Holmgren type
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Bone dysplasia-medullary fibrosarcoma syndrome
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Bone filaminopathy
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Bone fragility-contractures-arterial rupture-deafness syndrome
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Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome
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Bone necrosis
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Bone necrosis of genetic origin
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Bone sarcoma
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Bonneau-Beaumont syndrome
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Bonneau syndrome
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Bonnemann-Meinecke-Reich syndrome
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Bonnemann-Meinecke syndrome
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Bonnet-Dechaume-Blanc syndrome
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Böök syndrome
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Boomerang dysplasia
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BOOP
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Booth-Haworth-Dilling syndrome
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Borderline epithelial tumor of ovary
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Borderline ovarian epithelial tumor
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Borjeson-Forssman-Lehmann syndrome
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Bork syndrome
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Bornholm eye disease
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Borrmann gastric cancer type 4
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BOR syndrome
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Bosch-Boonstra-Schaaf optic atrophy syndrome
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Bosley-Salih-Alorainy syndrome
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Bosma arhinia-microphthalmia syndrome
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Bosma-Henkin-Christiansen syndrome
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BOS syndrome
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Bothnia retinal dystrophy
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Bothriocephalosis
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Botulism
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Boucher-Neuhäuser syndrome
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Bourneville syndrome
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Boutonneuse fever
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Bowen-Conradi syndrome
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Bowen syndrome, Hutterite type
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Boxer’s dementia
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Boyadjiev-Jabs syndrome
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BPAN
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BPD
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BPDCN
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B-PLL
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BPNST
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Brachial plexus neuritis
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Brachmann-de Lange syndrome
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Brachycephalofrontonasal dysplasia
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Brachycephaly-deafness-cataract-intellectual disability syndrome
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Brachydactylous dwarfism, Mseleni type
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Brachydactyly-arterial hypertension syndrome
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Brachydactyly, combined B and E types
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Brachydactyly-elbow wrist dysplasia syndrome
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Brachydactyly, Farabee type
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Brachydactyly-intellectual disability syndrome
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Brachydactyly-joint dysplasia syndrome
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Brachydactyly-long thumb syndrome
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Brachydactyly, long thumb type
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Brachydactyly-mesomelia-intellectual disability-heart defects syndrome
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Brachydactyly, Mohr-Wriedt type
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Brachydactyly-nystagmus-cerebellar ataxia syndrome
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Brachydactyly-preaxial hallux varus syndrome
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Brachydactyly-scoliosis-carpal fusion syndrome
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Brachydactyly-short stature-microcephaly syndrome
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Brachydactyly-short stature-retinitis pigmentosa syndrome
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Brachydactyly, Smorgasbord type
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Brachydactyly-symphalangism syndrome
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Brachydactyly-syndactyly, Zhao type
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Brachydactyly, Temtamy type
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Brachydactyly type A1
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Brachydactyly type A2
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Brachydactyly type A4
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Brachydactyly type A5
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Brachydactyly type A6
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Brachydactyly type A7
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Brachydactyly type B
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Brachydactyly type B2
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Brachydactyly type C
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Brachydactyly type E
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Brachydactyly type E, with short stature and hypertension
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Brachymesophalangy II and V
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Brachymorphism-onychodysplasia-dysphalangism syndrome
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Brachyolmia
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Brachyolmia-amelogenesis imperfecta syndrome
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Brachyolmia, Hobaek/Toledo type
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Brachyolmia, Maroteaux type
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Brachyolmia type 2
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Brachyolmia type 3
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Brachytelephalangic chondrodysplasia punctata
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Brachytelephalangy-dysmorphism-Kallmann syndrome
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Bradbury-Eggleston syndrome
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Braddock-Jones-Superneau syndrome
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Braddock syndrome
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Bradykinine-induced angioedema
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Bradyopsia
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Brain calcification, Rajab type
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Brain cortical dysplasia
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Brain demyelination due to methionine adenosyltransferase deficiency
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Brain dopamine-serotonin vesicular transport disease
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Brain inflammatory disease
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Brain-lung-thyroid syndrome
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Brain malformation
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Brain malformation-congenital heart disease-postaxial polydactyly syndrome
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Brain malformation due to abnormal neuronal migration
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Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome
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Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome
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Branched-chain 2-ketoacid dehydrogenase deficiency
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Branched chain alpha-ketoacid dehydrogenase complex deficiency
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Branched-chain ketoaciduria
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Branchial arch or oral-acral syndrome
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Branchial dysplasia-intellectual disability-inguinal hernia syndrome
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Branchiogenic deafness syndrome
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Branchio-oculo-facial syndrome
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Branchiootic syndrome
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Branchiootorenal syndrome
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Branchioskeletogenital syndrome
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Branch pulmonary artery stenosis
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Brauer syndrome
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Braun-Bayer syndrome
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Brazilian hemorrhagic fever
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BRBN
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BRE
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BRESEK syndrome
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BRESHECK syndrome
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BRIC
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BRIC1
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BRIC2
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BRIC type 1
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BRIC type 2
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Brill disease
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Brill-Zinsser disease
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Brittle bone disease
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Brittle cornea syndrome
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Broad-beta disease
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Broad thumb-hallux syndrome
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Broad thumbs-halluces syndrome
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Brody myopathy
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Broken heart syndrome
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Bronchial NET
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Bronchial neuroendocrine tumor
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Bronchiolitis obliterans organizing pneumonia
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Bronchiolitis obliterans with obstructive pulmonary disease
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Bronchogenic cyst
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Bronchopulmonary dysplasia
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Bronspiegel-Zelnick syndrome
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Bronze John
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Brooke-Spiegler syndrome
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Brown-Vialetto-van Laere syndrome
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BRRS
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BRSS
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Brucellosis
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Bruck syndrome
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Brugada syndrome
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Brunner syndrome
-
Brunner-Winter syndrome
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Brunner-Winter syndrome type 1
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Brunner-Winter syndrome type 2
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Brunzell syndrome
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Bruton type agammaglobulinemia
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BSCL
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BSEP deficiency
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BSG syndrome
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BSI
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BSPDC
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BSyn
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BTBGD
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BTD deficiency
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BTHS
-
BTK-deficiency
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Buckley syndrome
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Budd-Chiari syndrome
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Buerger disease
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Bulbospinal muscular atrophy
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Bulbospinal muscular atrophy of adult
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Bulbospinal muscular atrophy of childhood
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Bull-Nixon syndrome
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Bullous congenital ichthyosiform erythroderma
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Bullous congenital ichthyosiform erythroderma of Brock
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Bullous DCM
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Bullous diffuse cutaneous mastocytosis
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Bullous ichthyosis
-
Bullous impetigo
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Bullous lichen planus
-
Bullous pemphigoid
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Bullous pyoderma gangrenosum
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Buphthalmia
-
Buphthalmos
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Buphthalmus
-
Burkitt lymphoma
-
Burning mouth syndrome
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Burn-McKeown syndrome
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Burton skeletal dysplasia
-
Burton syndrome
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Buschke-Fischer-Brauer syndrome
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Buschke-Ollendorff syndrome
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Buschke scleredema
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Butterfly-shaped pattern dystrophy
-
Butterfly-shaped pigmentary macular dystrophy
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Butterfly-shaped pigment dystrophy
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Buttiens-Fryns syndrome
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Butyrylcholinesterase deficiency
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bv-FTD
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BVMD
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BWS
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Byler disease