Rare Disease Library

Bilineal acute leukemia

Bilirubin encephalopathy

Kernicterus

Biological anomaly without phenotypic characterization

Biotin-thiamine-responsive basal ganglia disease

BBGD · BTBGD

Biotinidase deficiency

Juvenile-onset multiple carboxylase deficiency · Late-onset multiple carboxylase deficiency

Bipartite talus

Birdshot chorioretinopathy

Birdshot chorioretinitis · Birdshot retinochoroiditis

Birk-Barel syndrome

Intellectual disability-hypotonia-facial dysmorphism syndrome · Birk-Barel Intellectual Disability-Dimorphism syndrome

Birt-Hogg-Dubé syndrome

Hornstein-Knickenberg syndrome

Björnstad syndrome

Deafness-pili torti-hypogonadism syndrome · Hearing loss-pili torti-hypogonadism syndrome

Blake pouch cyst

Blastic plasmacytoid dendritic cell neoplasm

BPDCN

Blau syndrome

Bleeding diathesis due to a collagen receptor defect

Bleeding diathesis due to glycoprotein VI deficiency

Bleeding diathesis due to integrin alpha2-beta1 deficiency

Bleeding diathesis due to thromboxane synthesis deficiency

Bleeding disorder due to CalDAG-GEFI deficiency

Bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency

Bleeding disorder due to P2Y12 defect

Bleeding disorder due to ADP platelet receptor P2Y12 defect

Bleeding disorder in hemophilia A carriers

Bleeding disorder in hemophilia B carriers

Blepharo-cheilo-odontic syndrome

BCD syndrome · Blepharocheilodontic syndrome

Blepharofacioskeletal syndrome

Richieri Costa-Guion Almeida-Rodini syndrome

Blepharonasofacial malformation syndrome

Pashayan syndrome · Pashayan-Pruzansky syndrome

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

Blepharophimosis-intellectual disability syndrome, Verloes type

BMRS type V · BMRS, Verloes type

Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome

Blepharophimosis-ptosis-epicanthus inversus syndrome

BPES

Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome

Frydman-Cohen-Karmon syndrome

Blepharoptosis-myopia-ectopia lentis syndrome

Blepharospasm-oromandibular dystonia syndrome

Meige dystonia · Meige syndrome

Blindness-scoliosis-arachnodactyly syndrome

Blomstrand lethal chondrodysplasia

BLC · BOCD

Bloom syndrome

BSyn

Blount disease

Infantile tibia vara · Osteochondrosis deformans tibiae

Blue cone monochromatism

Atypical X-linked achromatopsia · Blue cone monochromacy

Blue diaper syndrome

Drummond syndrome · Familial hypercalcemia-nephrocalcinosis-indicanuria syndrome

Blue rubber bleb nevus

Bean syndrome · BRBN

BNAR syndrome

Bifid nose with or without anorectal and renal anomalies

Body integrity dysphoria

BID · BIID

Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency

PXE-like syndrome · Pseudoxanthoma elasticum-like syndrome

Bohring-Opitz syndrome

BOS syndrome · Bohring syndrome

Bolivian hemorrhagic fever

Machupo hemorrhagic fever

Bone dysplasia, lethal Holmgren type

Autosomal recessive lethal chondrodysplasia, round femoral inferior epiphysis type