Rx Autoimmune, Genetic and Rare Diseases (A – Z)
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Branch-Oculo-Facial Syndrome (BOFS)
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Branch-oculo-facial syndrome (BOFS) is a rare genetic autosomal dominant multiple-malformation congenital disorder with defects of the head and neck facies, ...

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Bowenoid Papulosis
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Bowenoid Papulosis is a rare, uncommon sexually transmitted cutaneous condition that occurs in both males and females and causes thought to be caused by ...

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Bowen Hutterite Syndrome
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Bowen Hutterite syndrome is a rare genetic lethal autosomal recessive disorder characterized by distinctive malformations of the head and facial ...

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Bowen Disease
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Bowen disease is a rare chronic atypical slowly progressive epithelial proliferation in-situ squamous cell carcinoma (SCC) of epidermis skin disorder ...

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Bosma Arhinia Microphthalmia Syndrome
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Bosma arhinia microphthalmia (BAM) syndrome is an extremely rare genetic congenital disorder characterized by severe hypoplasia of the nose and eyes, palatal ...

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Börjeson-Forssman-Lehmann Syndrome (BFLS)
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Börjeson-Forssman-Lehmann syndrome (BFLS) is an extremely rare X-linked recessive intellectual disability (ID) disorder characterized by mutations in the ...

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Bohring-Opitz Syndrome (BOS)
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Boring-Opitz syndrome (BOS) is a rare, multiple anomaly syndrome that has distinctive facial features and posture, growth failure, variable but usually ...

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Bean Syndrome 
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Bean syndrome is also known as Blue rubber bleb nevus syndrome (BRBNS) is a rare congenital blood vessel (vascular) anomaly in various organ systems ...

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Blue Rubber Bleb Nevus Syndrome (BRBNS)
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Blue rubber bleb nevus syndrome (BRBNS) is also known as Bean syndrome. is a rare congenital blood vessel (vascular) anomaly in various organ systems ...

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Blue Diaper Syndrome
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Blue diaper syndrome is a rare, genetic metabolic disorder characterized by the incomplete intestinal breakdown of tryptophan, a dietary nutrient for bluish ...

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Bloom Syndrome
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Bloom syndrome (Bryn) also called Bloom-Torre-Machacek syndrome or congenital telangiectatic erythema is a rare genetic autosomal recessive inherited, ...

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Blepharophimosis
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Blepharophimosis, ptosis, and epicenters inverses syndrome (BEES) is a rare developmental condition affecting the four major features of eyelids and ovary, ...

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Blastomycosis
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Blastomycosis is a rare infectious multisystem disease that is caused by the fungus Blastomyces dermatitidis. The symptoms vary greatly according to the ...

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Bladder Exstrophy Epispadias-Cloacal Exstrophy Complex
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Bladder exstrophy-epispadias-cloacal dystrophy complex is a spectrum of anomalies involving the urinary tract, genital tract, musculoskeletal system, and ...

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Bjornstad Syndrome
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Bjornstad syndrome (BS) is an extremely rare autosomal recessive genetic disorder characterized by abnormally flattened, mental retardation, hearing loss, ...

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Hornstein–Knickenberg Syndrome
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Hornstein–Knickenberg syndrome is a rare, autosomal dominantly inherited genodermatosis complex genetic monogenic skin disorder (genodermatosis) ...

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Birt-Hogg-Dube Syndrome
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Birt-Hogg-Dubé (BHD) syndrome also known as Hornstein–Knickenberg syndrome is a rare, autosomal dominantly inherited genodermatosis complex genetic monogenic ...

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Biotinidase Deficiency
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Biotinidase deficiency (BTD) is inherited via an autosomal recessive pattern via two pathogenic variants in the BTD gene, located at chromosome ...

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Binswanger Disease
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Binswanger disease also known as subcortical arteriosclerotic degeneration of the white matter encephalopathy is a progressive neurological chronic, ...

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Binder-Type Nasomaxillary Dysplasia
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Binder-type nasomaxillary dysplasia also known as binder's syndrome is a rare developmental defect that is present at birth (congenital) and characterized by ...

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