Branch-oculo-facial syndrome (BOFS) is a rare genetic autosomal dominant multiple-malformation congenital disorder with defects of the head and neck facies, ...
Bowenoid Papulosis is a rare, uncommon sexually transmitted cutaneous condition that occurs in both males and females and causes thought to be caused by ...
Bowen Hutterite syndrome is a rare genetic lethal autosomal recessive disorder characterized by distinctive malformations of the head and facial ...
Bowen disease is a rare chronic atypical slowly progressive epithelial proliferation in-situ squamous cell carcinoma (SCC) of epidermis skin disorder ...
Bosma arhinia microphthalmia (BAM) syndrome is an extremely rare genetic congenital disorder characterized by severe hypoplasia of the nose and eyes, palatal ...
Börjeson-Forssman-Lehmann syndrome (BFLS) is an extremely rare X-linked recessive intellectual disability (ID) disorder characterized by mutations in the ...
Boring-Opitz syndrome (BOS) is a rare, multiple anomaly syndrome that has distinctive facial features and posture, growth failure, variable but usually ...
Bean syndrome is also known as Blue rubber bleb nevus syndrome (BRBNS) is a rare congenital blood vessel (vascular) anomaly in various organ systems ...
Blue rubber bleb nevus syndrome (BRBNS) is also known as Bean syndrome. is a rare congenital blood vessel (vascular) anomaly in various organ systems ...
Blue diaper syndrome is a rare, genetic metabolic disorder characterized by the incomplete intestinal breakdown of tryptophan, a dietary nutrient for bluish ...
Bloom syndrome (Bryn) also called Bloom-Torre-Machacek syndrome or congenital telangiectatic erythema is a rare genetic autosomal recessive inherited, ...
Blepharophimosis, ptosis, and epicenters inverses syndrome (BEES) is a rare developmental condition affecting the four major features of eyelids and ovary, ...
Blastomycosis is a rare infectious multisystem disease that is caused by the fungus Blastomyces dermatitidis. The symptoms vary greatly according to the ...
Bladder exstrophy-epispadias-cloacal dystrophy complex is a spectrum of anomalies involving the urinary tract, genital tract, musculoskeletal system, and ...
Bjornstad syndrome (BS) is an extremely rare autosomal recessive genetic disorder characterized by abnormally flattened, mental retardation, hearing loss, ...
Hornstein–Knickenberg syndrome is a rare, autosomal dominantly inherited genodermatosis complex genetic monogenic skin disorder (genodermatosis) ...
Birt-Hogg-Dubé (BHD) syndrome also known as Hornstein–Knickenberg syndrome is a rare, autosomal dominantly inherited genodermatosis complex genetic monogenic ...
Biotinidase deficiency (BTD) is inherited via an autosomal recessive pattern via two pathogenic variants in the BTD gene, located at chromosome ...
Binswanger disease also known as subcortical arteriosclerotic degeneration of the white matter encephalopathy is a progressive neurological chronic, ...
Binder-type nasomaxillary dysplasia also known as binder's syndrome is a rare developmental defect that is present at birth (congenital) and characterized by ...