Rare Disease Library

Benign schwannoma

Neurilemmoma · Neurilemoma

Benign tumor of fallopian tubes

Benign vascular tumor

BENTA disease

B-cell expansion with NF-kB and T-cell anergy disease

Bernard-Soulier syndrome

Giant platelet syndrome · Hemorrhagiparous thrombocytic dystrophy

Best vitelliform macular dystrophy

BMD · BVMD

Beta-ketothiolase deficiency

3-ketothiolase deficiency · 3-oxothiolase deficiency

Beta-mannosidosis

Beta-mannosidase deficiency

Beta-propeller protein-associated neurodegeneration

BPAN · NBIA5

Beta-sarcoglycan-related limb-girdle muscular dystrophy R4

Beta-sarcoglycanopathy · LGMD2E

Beta-thalassemia

Beta-thalassemia and related disorders

Beta-thalassemia associated with another hemoglobin anomaly

Beta-thalassemia associated with another Hb anomaly

Beta-thalassemia intermedia

Non-transfusion dependent beta-thalassemia · Beta-NTDT

Beta-thalassemia major

Cooley anemia · Mediterranean anemia

Beta-thalassemia-trichothiodystrophy syndrome

Beta-thalassemia-X-linked thrombocytopenia syndrome

XLTT

Beta-ureidopropionase deficiency

Beta-alanine synthase deficiency

Bethlem muscular dystrophy

Bethlem myopathy · LGMD R22 collagen 6-related dystrophy

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

Bicervical bicornuate uterus and blind hemivagina

Bicervical bicornuate uterus with patent cervix and vagina

Bickerstaff brainstem encephalitis

Bicornuate uterus

BIDS syndrome

Amish brittle hair syndrome · Trichothiodystrophy type D

Biemond syndrome type 2

Hypogonadism-short stature-coloboma-preaxial polydactyly syndrome

Bietti crystalline dystrophy

BCD · Bietti crystalline corneoretinal dystrophy

Bifid nose

Bifid uvula

Bifidity of the uvula · Uvular cleft

Bifunctional enzyme deficiency

Bilateral acute depigmentation of the iris

BADI

Bilateral diffuse uveal melanocytic proliferation disease

BDUMP · Paraneoplastic uveal melanocytic hyperplasia

Bilateral frontal polymicrogyria

Bilateral frontoparietal polymicrogyria

Bilateral generalized polymicrogyria

Bilateral massive adrenal hemorrhage

BMAH · Bilateral adrenal hemorrhage

Bilateral microtia-deafness-cleft palate syndrome

Bilateral microtia-hearing loss-cleft palate syndrome

Bilateral multicystic dysplastic kidney

Bilateral MCDK · Bilateral multicystic renal dysplasia

Bilateral parasagittal parieto-occipital polymicrogyria

Bilateral perisylvian polymicrogyria

Bilateral polymicrogyria

Bilateral striopallidodentate calcinosis

BSPDC · Cerebrovascular ferrocalcinosis

Bile acid CoA ligase deficiency and defective amidation

Bile acid synthesis defect with cholestasis and malabsorption

Biliary atresia and associated disorders

Biliary atresia with splenic malformation syndrome

BASM syndrome

Biliary cystadenocarcinoma

Intrahepatic bile duct cystadenocarcinoma

Biliary tract malformation-renal failure syndrome

Cholestatic jaundice-renal tubular insufficiency syndrome · Lutz-Richner-Landolt syndrome