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Disease	Synonyms	Description
Behcet's syndrome arthropathy	Arthropathy in Behcet's syndrome involving ankle a.. [+] Arthropathy in Behcet's syndrome involving ankle and foot; Arthropathy in Behcet's syndrome involving forearm; Arthropathy in Behcet's syndrome involving hand; Arthropathy in Behcet's syndrome involving lower leg; Arthropathy in Behcet's syndrome involving multiple sites; Arthropathy in Behcet's syndrome involving pelvic region and thigh; Arthropathy in Behcet's syndrome involving shoulder region; Arthropathy in Behcet's syndrome involving upper arm; Behcet syndrome arthropathy; [-]	n_a
Bell's palsy	Bell palsy; Bell's (facial) palsy;	A facial paralysis resulting from dysfunction in t..[+] A facial paralysis resulting from dysfunction in the cranial nerve VII (facial nerve). [-]
Bernard-Soulier syndrome	Bernard - Soulier thrombopathy; Bernard Soulier sy.. [+] Bernard - Soulier thrombopathy; Bernard Soulier syndrome; Giant platelet syndrome (disorder); Hemorrhagic dystrophic thrombocytopenia; Thrombopathy, Bernard-Soulier; [-]	An inherited blood coagulation disease characteriz..[+] An inherited blood coagulation disease characterized by autosomal recessive inheritance of mucosal bleeding, purpuric skin bleeding, epistaxis, and menorrhagia with prolonged bleeding times, enlarged platelets and absence of platelet aggregation in response to von Willebrand factor that has material_basis_in mutation in the GP1BA gene, the GP1BB gene, or the GP9 gene which are subunits of the platelet membrane von Willebrand factor receptor complex, glycoprotein Ib. [-]
Bernard-Soulier syndrome type A2	BSSA2;	A Bernard-Soulier syndrome characterized by autoso..[+] A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has material_basis_in heterozygous mutations in the GP1BA gene on chromosome 17p. [-]
Bethlem myopathy	benign congenital muscular dystrophy;	n_a
Bh4-deficient hyperphenylalaninemia A	6-pyruvoyl-tetrahydropterin synthase deficiency; H.. [+] 6-pyruvoyl-tetrahydropterin synthase deficiency; HPABH4A; hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency; PTS deficiency; tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency; [-]	An amino acid metabolic disorder characterized by ..[+] An amino acid metabolic disorder characterized by autosomal recessive inheritance of hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has material_basis_in mutation in the PTS gene on chromosome 11q23.1. [-]
Bietti crystalline corneoretinal dystrophy	Bietti's crystalline dystrophy ;	n_a
Binder syndrome	binder type maxillonasal dysplasia;	n_a
Birk-Barel syndrome	BIRK-BAREL MENTAL RETARDATION DYSMORPHISM SYNDROME.. [+] BIRK-BAREL MENTAL RETARDATION DYSMORPHISM SYNDROME; [-]	n_a
Birt-Hogg-Dube syndrome		n_a
Bjornstad syndrome		n_a
Blau syndrome	ARTHROCUTANEOUVEAL GRANULOMATOSIS; Jabs syndrome;	An autosomal dominant disease characterized by fam..[+] An autosomal dominant disease characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has material basis in mutations in the NOD2/CARD15 genes. [-]
Blessig's cysts	Blessig cysts; Iwanoff's cysts; Microcystoid degen.. [+] Blessig cysts; Iwanoff's cysts; Microcystoid degeneration of retina; Microcystoid retinal degeneration; [-]	n_a
Bloch-Sulzberger syndrome	Incontinentia pigmenti (disorder); Incontinentia p.. [+] Incontinentia pigmenti (disorder); Incontinentia pigmenti syndrome (disorder); [-]	n_a
Bloom syndrome	Bloom-Torre-Machacek syndrome; Congenital Telangie.. [+] Bloom-Torre-Machacek syndrome; Congenital Telangiectatic Erythema syndrome; [-]	An autosomal recessive disease characterized by su..[+] An autosomal recessive disease characterized by sun sensitivity, short stature, predisposition to the development of cancer and genomic instability. [-]
Blount's disease	Blount disease; familial infantile type osteochond.. [+] Blount disease; familial infantile type osteochondrosis deformans tibiae; [-]	An osteochondrodysplasia that results_in inward tu..[+] An osteochondrodysplasia that results_in inward turning of lower leg, located_in tibia, which fails to develop normally. [-]
Bolivian hemorrhagic fever		A viral infectious disease that is a hemorrhagic f..[+] A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Machupo virus, which is transmitted_by vesper mouse, Calomys callosus. The infection has_symptom fever, has_symptom headache, has_symptom fatigue, has_symptom myalgia, has_symptom arthralgia, has_symptom bleeding from the oral and nasal mucosa, and has_symptom bleeding from the bronchopulmonary, gastrointestinal and genitourinary tracts. [-]
Boomerang dysplasia		n_a
Bordetella parapertussis whooping cough		A pertussis that is a milder disease caused by the..[+] A pertussis that is a milder disease caused by the bacterium Bordetella parapertussis. The disease has_symptom coughing, has_symptom sneezing, or has_symptom runny nose . [-]
Borjeson-Forssman-Lehmann syndrome	BFLS; BORJ; Borjeson syndrome; intellectual defici.. [+] BFLS; BORJ; Borjeson syndrome; intellectual deficiency-epilepsy-endocrine disorders syndrome; mental retardation, epilepsy, and endocrine disorder; MRXSBFL; syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type; [-]	An X-linked disease that is characterized by intel..[+] An X-linked disease that is characterized by intellectual disability, truncal obesity, seizures, hypogonadism, developmental delay, distinctive facial features, tapered fingers and short toes and has_material_basis_in X-linked recessive inheritance of mutations in the PHF6 gene. [-]
Borst-Jadassohn intraepidermal carcinoma	Bowen's disease, clonal (disorder); Intraepidermal.. [+] Bowen's disease, clonal (disorder); Intraepidermal Epithelioma of Jadassohn; [-]	n_a
Bothnia retinal dystrophy	Vasterbotten dystrophy;	n_a
Bowen-Conradi syndrome		n_a
Bowman's membrane folds or rupture	Bowman membrane folds or rupture;	n_a
Brazilian hemorrhagic fever		A viral infectious disease that is a hemorrhagic f..[+] A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Sabia virus, which is transmitted_by rodents. The infection has_symptom fever, has_symptom eye redness, has_symptom fatigue, has_symptom dizziness, has_symptom muscle aches, has_symptom loss of strength, and has_symptom bleeding under the skin, internal organs, or from body orifices like the mouth, eyes or ears. [-]
Brill-Zinsser disease	Brill Zinsser disease; Brill's disease; Brill-Zins.. [+] Brill Zinsser disease; Brill's disease; Brill-Zinsser disease (disorder); Latent typhus; Recrudescent typhus; Sporadic typhus; [-]	An epidemic typhus that is a mild form of the dise..[+] An epidemic typhus that is a mild form of the disease, which recurs in someone after a long period of latency due to immunosuppression, malnutrition or other illnesses. [-]
Brody myopathy		A neuromuscular disease is characterized by diffic..[+] A neuromuscular disease is characterized by difficulty relaxing muscles and muscle stiffness following exercise or other strenuous activity and is located_in skeletal muscles. [-]
Brooke-Spiegler syndrome		n_a
Brooks-Wisniewski-Brown syndrome	X-linked intellectual disability, Brooks type;	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by intellectual disability, distinct facial appearance and growth retardation that has_material_basis_in variation on the X chromosome. [-]
Brown's tendon sheath syndrome	Brown tendon sheath syndrome; Brown's (tendon) she.. [+] Brown tendon sheath syndrome; Brown's (tendon) sheath syndrome; Brown's sheath syndrome; [-]	n_a
Brown-Sequard syndrome	Brown-Squard syndrome (disorder);	n_a
Brown-Vialetto-Van Laere syndrome		n_a
Brucella abortus brucellosis		A brucellosis that involves an infection caused by..[+] A brucellosis that involves an infection caused by Brucella abortus [NCBITaxon:235] in cattle and humans. The disease has_symptom fever, has_symptom chills, has_symptom sweats, has_symptom weight loss, has_symptom malaise, has_symptom headaches, has_symptom myalgia, and has_symptom arthralgia. [-]
Brucella canis brucellosis		A brucellosis involving an infection caused by Bru..[+] A brucellosis involving an infection caused by Brucella canis [NCBITaxon:36855] in dogs and humans. The disease has_symptom fever, has_symptom sweats, has_symptom weakness, has_symptom weight loss, has_symptom headache, has_symptom lymphadenopathy and has_symptom splenomegaly. [-]
Brucella melitensis brucellosis		A brucellosis that involves an infection caused by..[+] A brucellosis that involves an infection caused by Brucella melitensis [NCBITaxon:29459] in cattle, goats, sheep and humans. The disease has_symptom fever, has_symptom malaise, has_symptom anorexia, has_symptom limb pain and has_symptom back pain. [-]
Brucella suis brucellosis		A brucellosis that involves an infection caused by..[+] A brucellosis that involves an infection caused by Brucella suis [NCBITaxon:29461] in swine and humans. The disease has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom diaphoresis, has_symptom arthralgia, has_symptom myalgia, has_symptom headache, has_symptom anorexia, and has_symptom fatigue. [-]
Bruck syndrome	osteogenesis imperfecta with congenital joint cont.. [+] osteogenesis imperfecta with congenital joint contractures; [-]	A syndrome characterized by a combination of multi..[+] A syndrome characterized by a combination of multiple joint contractures and osteogenesis imperfecta. [-]
Brugada syndrome	Bangungut; Brugada type idiopathic ventricular fib.. [+] Bangungut; Brugada type idiopathic ventricular fibrillation; Dream disease; Pokkuri death syndrome; sudden unexplained nocturnal death syndrome; SUNDS; [-]	A heart conduction disease that is characterized b..[+] A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death. [-]
Brugada syndrome 1	BRGDA1;	A Brugada syndrome that has material basis in hete..[+] A Brugada syndrome that has material basis in heterozygous mutation in the SCN5A gene on chromosome 3p22. [-]
Brugada syndrome 2	BRGDA2;	A Brugada syndrome that has material basis in hete..[+] A Brugada syndrome that has material basis in heterozygous mutation in the GPD1L gene on chromosome 3p22. [-]
Brugada syndrome 3	BRGDA3;	A Brugada syndrome that has material basis in hete..[+] A Brugada syndrome that has material basis in heterozygous mutation in the gene encoding the alpha-1C subunit of the L-type voltage-dependent calcium channel (CACNA1C) on chromosome 12p13. [-]
Brugada syndrome 4	BRGDA4;	A Brugada syndrome that has material basis in hete..[+] A Brugada syndrome that has material basis in heterozygous mutation in the gene encoding the beta-2 subunit of the voltage-dependent L-type calcium channel (CACNB2) on chromosome 10p12. [-]
Brugada syndrome 5	BRGDA5;	A Brugada syndrome that has material basis in hete..[+] A Brugada syndrome that has material basis in heterozygous mutation in the SCN1B gene on chromosome 19q13. [-]
Brugada syndrome 6	BRGDA6;	A Brugada syndrome that has material basis in hete..[+] A Brugada syndrome that has material basis in heterozygous mutation in the KCNE3 gene on chromosome 11q13. [-]
Brugada syndrome 7	BRGDA7;	A Brugada syndrome that has material basis in hete..[+] A Brugada syndrome that has material basis in heterozygous mutation in the SCN3B gene on chromosome 11q24. [-]
Brugada syndrome 8	BRGDA8;	A Brugada syndrome that has material basis in hete..[+] A Brugada syndrome that has material basis in heterozygous mutation in the HCN4 gene on chromosome 15q24. [-]
Brugada syndrome 9	BRGDA9;	A Brugada syndrome that has material basis in hete..[+] A Brugada syndrome that has material basis in heterozygous mutation in the KCND3 gene on chromosome 1p13. [-]
Brunner Syndrome	monoamine oxidase A deficiency;	An amino acid metabolic disorder characterized by ..[+] An amino acid metabolic disorder characterized by recessive X-linked inhetiance, impaired monoamine metabolism, impulsive aggressiveness and mild mental retardation that has_material_basis_in mutation in the MAOA gene on chromosome Xp11. [-]
Bruton-type agammaglobulinemia	Bruton agammaglobulinemia tyrosine kinase deficien.. [+] Bruton agammaglobulinemia tyrosine kinase deficiency; Bruton's agammaglobulinaemia; Bruton's Sex-Linked Agammaglobulinemia; Bruton's type agammaglobulinemia; BTK deficiency; X-linked agammaglobulinemia (disorder); [-]	A B cell deficiency that is that has material basi..[+] A B cell deficiency that is that has material basis in a mutation in the Bruton's tyrosine kinase (BTK) gene on the X chromosome resulting in X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement. [-]
Budd-Chiari syndrome	hepatic vein thrombosis;	n_a

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