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Disease	Synonyms	Description
Bardet-Biedl syndrome 3	BBS3;	A Bardet-Biedl syndrome that has material basis in homozygou..[+] A Bardet-Biedl syndrome that has material basis in homozygous mutation in the ARL6 gene on chromosome 3q11. [-]
Bardet-Biedl syndrome 4	BBS4;	A Bardet-Biedl syndrome that has material basis in homozygou..[+] A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBS4 gene on chromosome 15q24. [-]
Bardet-Biedl syndrome 5	BBS5;	A Bardet-Biedl syndrome that has material basis in homozygou..[+] A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBS5 gene on chromosome 2q31. [-]
Bardet-Biedl syndrome 6	BBS6;	A Bardet-Biedl syndrome that has material basis in homozygou..[+] A Bardet-Biedl syndrome that has material basis in homozygous or compound heterozygous mutation in the MKKS gene on chromosome 20p12. [-]
Bardet-Biedl syndrome 7	BBS7;	A Bardet-Biedl syndrome that has material basis in homozygou..[+] A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBS7 gene on chromosome 4q27. [-]
Bardet-Biedl syndrome 8	BBS8;	A Bardet-Biedl syndrome that has material basis in homozygou..[+] A Bardet-Biedl syndrome that has material basis in homozygous mutation in the TTC8 gene on chromosome 14q31. [-]
Bardet-Biedl syndrome 9	BBS9;	A Bardet-Biedl syndrome that has material basis in homozygos..[+] A Bardet-Biedl syndrome that has material basis in homozygosity or compound heterozygosity for mutations in the PTHB1 gene on chromosome 7p14. [-]
Barmah Forest virus disease		A viral infectious disease that results_in infection located..[+] A viral infectious disease that results_in infection located_in joint, has_material_basis_in Barmah Forest virus, which is transmitted_by mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash. [-]
Barre-Lieou syndrome	Cervicocranial syndrome; Cervicocranial syndrome (disorder);.. [+] Cervicocranial syndrome; Cervicocranial syndrome (disorder); Posterior cervical sympathetic syndrome; [-]	A syndrome that involves occipital head aches, nystagmus on ..[+] A syndrome that involves occipital head aches, nystagmus on head movement, tinnitus, spasms, blurred vision, corneal hyperaesthesia, and corneal ulcers. [-]
Barrett's adenocarcinoma	adenocarcinoma Arising in Barrett's Mucosa; Barrett adenocar.. [+] adenocarcinoma Arising in Barrett's Mucosa; Barrett adenocarcinoma; [-]	n_a
Barrett's esophagus	(ulcerative esophagitis) or (Barrett's esophagus); Barrett e.. [+] (ulcerative esophagitis) or (Barrett's esophagus); Barrett esophagus; Barrett's esophagus with esophagitis; Barrett's ulcer of esophagus; Barretts syndrome; CLE; ulcerative esophagitis; Barrett's oesophagus; [-]	n_a
Bart-Pumphrey syndrome	KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS;	A syndrome that is characterized by leukonychia, wart-like s..[+] A syndrome that is characterized by leukonychia, wart-like skin growths, palmoplantar keratoderma and hearing loss, has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12. [-]
Barth syndrome	3-methylglutaconicaciduria type 2; 3-methylglutaconicaciduri.. [+] 3-methylglutaconicaciduria type 2; 3-methylglutaconicaciduria type II; MGA type II; MGA Type 2; [-]	A lipid metabolism disorder that has_material_basis_in X-lin..[+] A lipid metabolism disorder that has_material_basis_in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin. [-]
Bartholin's duct cyst	Bartholin's Cyst; Cyst of Bartholin's gland; Cyst of Barthol.. [+] Bartholin's Cyst; Cyst of Bartholin's gland; Cyst of Bartholin's gland duct; Bartholin duct cyst; [-]	A female reproductive system disease that is characterized b..[+] A female reproductive system disease that is characterized by a fluid-filled swelling in the Bartholin's glands. [-]
Bartholin's gland adenocarcinoma	adenocarcinoma of the Bartholin's gland; Bartholin gland ade.. [+] adenocarcinoma of the Bartholin's gland; Bartholin gland adenocarcinoma; adenocarcinoma of bartholin's gland; [-]	A Bartholin's gland carcinoma that derives_from epithelial c..[+] A Bartholin's gland carcinoma that derives_from epithelial cells originating in glandular tissue. [-]
Bartholin's gland adenoid cystic carcinoma	Bartholin gland adenoid cystic carcinoma;	n_a
Bartholin's gland adenoma	Bartholin gland adenoma;	A Bartholin's gland benign neoplasm that is characterized by..[+] A Bartholin's gland benign neoplasm that is characterized by glands or glandlike structures and has_material_basis_in epithelial tissue. [-]
Bartholin's gland adenomyoma	Bartholin gland adenomyoma;	n_a
Bartholin's gland adenosquamous carcinoma	Bartholin gland adenosquamous carcinoma;	A Bartholin's gland carcinoma that derives_from squamous cel..[+] A Bartholin's gland carcinoma that derives_from squamous cells and gland-like cells. [-]
Bartholin's gland benign neoplasm	Bartholin gland neoplasm; tumor of Bartholin's gland;	n_a
Bartholin's gland carcinoma	carcinoma of Bartholin's gland; Bartholin gland carcinoma; B.. [+] carcinoma of Bartholin's gland; Bartholin gland carcinoma; Bartholin's gland cancer; [-]	A vulva carcinoma that has_material_basis_in abnormally prol..[+] A vulva carcinoma that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in Bartholin's gland. [-]
Bartholin's gland small cell carcinoma	Bartholin gland small cell carcinoma;	n_a
Bartholin's gland squamous cell carcinoma	Bartholin gland squamous cell carcinoma;	n_a
Bartholin's gland transitional cell carcinoma	Bartholin gland transitional cell carcinoma;	n_a
Bartter disease	Aldosteronism with hyperplasia of the adrenal cortex; Bartte.. [+] Aldosteronism with hyperplasia of the adrenal cortex; Bartter's syndrome; [-]	n_a
Bartter disease type 1	BARTS1; Bartter syndrome type 1; Bartter syndrome type 1 ant.. [+] BARTS1; Bartter syndrome type 1; Bartter syndrome type 1 antenatal; hyperprostaglandin E syndrome 1; hypokalemic alkalosis with hypercalciuria 1 antenatal; [-]	A Bartter disease that has_material_basis_in homozygous or c..[+] A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the sodium-potassium-chloride cotransporter-2 gene (SLC12A1) on chromosome 15q21. [-]
Bartter disease type 2	BARTS2; Bartter syndrome type 2; hyperprostaglandin E syndro.. [+] BARTS2; Bartter syndrome type 2; hyperprostaglandin E syndrome 2; hypokalemic alkalosis with hypercalciuria 2 antenatal; Bartter syndrome type 2 antenatal; [-]	A Bartter disease that has_material_basis_in homozygous or c..[+] A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the potassium channel ROMK gene (KCNJ1) on chromosome 11q24. [-]
Bartter disease type 3	BARTS3; Bartter syndrome type 3; classic Bartter syndrome;	A Bartter disease that has_material_basis_in homozygous or c..[+] A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the kidney chloride channel B gene (CLCNKB) on chromosome 1p36. [-]
Bartter disease type 4a	BARTS4A; Bartter syndrome type 4a ; BSND; neonatal Bartter s.. [+] BARTS4A; Bartter syndrome type 4a ; BSND; neonatal Bartter syndrome with sensorineural deafness; [-]	A Bartter disease that has_material_basis_in homozygous or c..[+] A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the BSND gene on chromosome 1p32. [-]
Bartter disease type 4b	Bartter syndrome, type 4b, digenic; BARTS4B; neonatal Bartte.. [+] Bartter syndrome, type 4b, digenic; BARTS4B; neonatal Bartter syndrome type 4B with sensorineural deafness; [-]	A Bartter disease that has material basis in simultaneous mu..[+] A Bartter disease that has material basis in simultaneous mutation in both the CLCNKA and CLCNKB genes. [-]
Bartter disease type 5	BARTS5; Bartter syndrome, type 5, antenatal, transient;	A Bartter disease that has material basis in mutation in the..[+] A Bartter disease that has material basis in mutation in the MAGED2 gene on chromosome Xp11. [-]
Beare-Stevenson cutis gyrata syndrome		A syndrome that is characterized by cutis gyrata, acanthosis..[+] A syndrome that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26. [-]
Becker muscular dystrophy	benign congenital myopathy; Benign pseudohypertrophic muscul.. [+] benign congenital myopathy; Benign pseudohypertrophic muscular dystrophy; [-]	A muscular dystrophy that involves slowly worsening muscle w..[+] A muscular dystrophy that involves slowly worsening muscle weakness of the legs and pelvis, and has_material_basis in X-linked recessive inheritance of mutation in the dystrophin gene on chromosome Xp21. [-]
Beckwith-Wiedemann syndrome		A syndrome characterized by overgrowth (macrosomia), an incr..[+] A syndrome characterized by overgrowth (macrosomia), an increased risk of childhood cancer and congenital malformations. [-]
Beemer-Langer syndrome	type IV short rib polydactyly syndrome (disorder); type IV s.. [+] type IV short rib polydactyly syndrome (disorder); type IV short rib polydactyly syndrome; [-]	A syndrome that results_in multiple congenital anomalies, in..[+] A syndrome that results_in multiple congenital anomalies, including hydrops fetalis, facial and visceral abnormalities, short ribs, and short limbs without polydactyly. [-]
Behcet's disease	Adamantiades-Behcet disease; Behcet syndrome; Behcet's syndr.. [+] Adamantiades-Behcet disease; Behcet syndrome; Behcet's syndrome; Behet's syndrome; triple symptom complex; [-]	A vasculitis that is characterized by an autoimmune mediated..[+] A vasculitis that is characterized by an autoimmune mediated inflammation of the blood vessels throughout the body leading to ulcerations on the mouth and sometimes the genitals, notorious for causing hypopyon uveitis. [-]
Behcet's syndrome arthropathy	Arthropathy in Behcet's syndrome involving forearm; Arthropa.. [+] Arthropathy in Behcet's syndrome involving forearm; Arthropathy in Behcet's syndrome involving hand; Arthropathy in Behcet's syndrome involving multiple sites; Arthropathy in Behcet's syndrome involving shoulder region; Behcet syndrome arthropathy; Arthropathy in Behcet's syndrome involving ankle and foot; Arthropathy in Behcet's syndrome involving pelvic region and thigh; Arthropathy in Behcet's syndrome involving lower leg; Arthropathy in Behcet's syndrome involving upper arm; [-]	n_a
Behr syndrome	Abortive cerebellar ataxia (BEHRS); BEHRS; optic atrophy in .. [+] Abortive cerebellar ataxia (BEHRS); BEHRS; optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss; optic atrophy, infantile hereditary, Behr complicated form of; [-]	A nervous system disease characterized by early-onset optic ..[+] A nervous system disease characterized by early-onset optic atrophy, ataxia, pyramidal signs, spasticity, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in OPA1 on chromosome 3q29. [-]
Bell's palsy	Bell palsy; Bell's (facial) palsy;	A facial paralysis resulting from dysfunction in the cranial..[+] A facial paralysis resulting from dysfunction in the cranial nerve VII (facial nerve). [-]
Bernard-Soulier syndrome	Bernard - Soulier thrombopathy; Bernard Soulier syndrome; Th.. [+] Bernard - Soulier thrombopathy; Bernard Soulier syndrome; Thrombopathy, Bernard-Soulier; Giant platelet syndrome (disorder); Giant platelet syndrome; Hemorrhagic dystrophic thrombocytopenia; [-]	A blood coagulation disease characterized by autosomal reces..[+] A 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 autosomal domina..[+] 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
Beukes hip dysplasia	Beukes familial hip dysplasia; Beukes type hip dysplasia; BF.. [+] Beukes familial hip dysplasia; Beukes type hip dysplasia; BFHD; Cilliers-Beighton syndrome; Premature degenerative osteoarthropathy of the hip; [-]	An osteoarthritis characterized by bilateral dysmorphism of ..[+] An osteoarthritis characterized by bilateral dysmorphism of the proximal femur resulting in severe progressive degenerative osteoarthritis of the hip joint in early adulthood that has_material_basis_in heterozygous mutation in UFSP2 on chromosome 4q35.1. [-]
Bh4-deficient hyperphenylalaninemia A	HPABH4A; hyperphenylalaninemia due to 6-pyruvoyltetrahydropt.. [+] HPABH4A; hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency; tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency; 6-pyruvoyl-tetrahydropterin synthase deficiency; PTS deficiency; [-]	An amino acid metabolic disorder that is characterized by hy..[+] An amino acid metabolic disorder that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in autosomal recessive inheritance of mutation in the gene encoding 6-pyruvoyl-tetrahydropterin synthase (PTS) 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-Bar.. [+] BIRK-BAREL MENTAL RETARDATION DYSMORPHISM SYNDROME; Birk-Barel mental retardation dysmorphism syndrome; [-]	A syndrome that is characterized by intellectual disability,..[+] A syndrome that is characterized by intellectual disability, hypotonia, hyperactivity and facies, has_material_basis_in heterozygous mutation in the KCNK9 gene on chromosome 8q24. [-]
Birt-Hogg-Dube syndrome		A skin disease that is characterized by the development of s..[+] A skin disease that is characterized by the development of skin papules on the head, face and upper torso, has_material_basis_in heterozygous mutation in the gene encoding folliculin on chromosome 17p11. [-]
Bjornstad syndrome	BJS; deafness-pili torti-hypogonadism syndrome; PTD;	A syndrome that is characterized by early onset of hearing l..[+] A syndrome that is characterized by early onset of hearing loss and hair loss due to pili torti, has_material_basis_in homozygous or compound heterozygous mutation in the BCS1L gene on chromosome 2q35. [-]
Blau syndrome	Jabs syndrome; ARTHROCUTANEOUVEAL GRANULOMATOSIS; BLAUS;	A syndrome characterized by familial granulomatous arthritis..[+] A syndrome characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has_material_basis_in heterozygous mutations in the NOD2 gene. [-]

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