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Disease	Synonyms	Description	Articles
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 cort.. [+] Aldosteronism with hyperplasia of the adrenal cortex; Bartter's syndrome; [-]	n_a	8 articles
Bartter disease type 1	BARTS1; Bartter syndrome type 1; Bartter syndrome .. [+] 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 homoz..[+] 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. [-]	1 articles
Bartter disease type 2	BARTS2; Bartter syndrome type 2; hyperprostaglandi.. [+] 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 homoz..[+] A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the potassium channel ROMK gene (KCNJ1) on chromosome 11q24. [-]	1 articles
Bartter disease type 3	BARTS3; Bartter syndrome type 3; classic Bartter s.. [+] BARTS3; Bartter syndrome type 3; classic Bartter syndrome; [-]	A Bartter disease that has_material_basis_in homoz..[+] A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the kidney chloride channel B gene (CLCNKB) on chromosome 1p36. [-]	2 articles
Bartter disease type 4a	BARTS4A; Bartter syndrome type 4a ; BSND; neonatal.. [+] BARTS4A; Bartter syndrome type 4a ; BSND; neonatal Bartter syndrome with sensorineural deafness; [-]	A Bartter disease that has_material_basis_in homoz..[+] 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; neona.. [+] Bartter syndrome, type 4b, digenic; BARTS4B; neonatal Bartter syndrome type 4B with sensorineural deafness; [-]	A Bartter disease that has material basis in simul..[+] 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, trans.. [+] BARTS5; Bartter syndrome, type 5, antenatal, transient; [-]	A Bartter disease that has material basis in mutat..[+] A Bartter disease that has material basis in mutation in the MAGED2 gene on chromosome Xp11. [-]
Basilicata-Akhtar syndrome	MRXS36; X-linked syndromic mental retardation 36; .. [+] MRXS36; X-linked syndromic mental retardation 36; X-linked syndromic mental retardation Basilicata-Akhtar type; [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by global developmental delay apparent from infancy, feeding difficulties, hypotonia, and poor or absent speech that has_material_basis_in hemizygous or heterozygous mutation in the MSL3 gene on chromosome Xp22.2. [-]
Beare-Stevenson cutis gyrata syndrome		A syndrome that is characterized by cutis gyrata, ..[+] 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 disease		A myotonia congenita that is characterized by musc..[+] A myotonia congenita that is characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1) on chromosome 7q34. [-]
Becker muscular dystrophy	benign congenital myopathy; Benign pseudohypertrop.. [+] benign congenital myopathy; Benign pseudohypertrophic muscular dystrophy; [-]	A muscular dystrophy that involves slowly worsenin..[+] 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..[+] 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 short rib polydactyly syndrome (disorder); type IV short rib polydactyly syndrome; [-]	A syndrome that results_in multiple congenital ano..[+] 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; Behc.. [+] Adamantiades-Behcet disease; Behcet syndrome; Behcet's syndrome; Behet's syndrome; triple symptom complex; [-]	A vasculitis that is characterized by an autoimmun..[+] 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.. [+] 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); optic atrophy .. [+] Abortive cerebellar ataxia (BEHRS); optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss; BEHRS; optic atrophy, infantile hereditary, Behr complicated form of; [-]	A nervous system disease characterized by early-on..[+] 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 the OPA1 gene on chromosome 3q29. [-]
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; Thrombopathy, Bernard-Soulier; Giant platelet syndrome (disorder); Giant platelet syndrome; Hemorrhagic dystrophic thrombocytopenia; [-]	A blood coagulation disease characterized by autos..[+] 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 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;	A congenital muscular dystrophy that is characteri..[+] A congenital muscular dystrophy that is characterized by myopathy and joint contractures that progresses slowly, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the COL6A1 gene, the COL6A2 gene, or the COL6A3 gene. [-]
Beukes hip dysplasia	Beukes type hip dysplasia; BFHD; Cilliers-Beighton.. [+] Beukes type hip dysplasia; BFHD; Cilliers-Beighton syndrome; Beukes familial hip dysplasia; Premature degenerative osteoarthropathy of the hip; [-]	An osteoarthritis characterized by bilateral dysmo..[+] 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. [-]
Bietti crystalline corneoretinal dystrophy	Bietti's crystalline dystrophy ;	A retinal degeneration that is characterized by cr..[+] A retinal degeneration that is characterized by crystals in the cornea, shiny deposits on the retina and progressive atrophy of the retina, choriocapillaris and choroid, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the CYP4V2 gene on chromosome 4q35. [-]
Binder syndrome	binder type maxillonasal dysplasia;	n_a
Birk-Barel syndrome	BIRK-BAREL MENTAL RETARDATION DYSMORPHISM SYNDROME.. [+] BIRK-BAREL MENTAL RETARDATION DYSMORPHISM SYNDROME; Birk-Barel mental retardation dysmorphism syndrome; [-]	A syndrome that is characterized by intellectual d..[+] 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. [-]	1 articles
Birt-Hogg-Dube syndrome		A skin disease that is characterized by hair folli..[+] A skin disease that is characterized by hair follicle hamartomas, kidney tumors, and spontaneous pneumothorax, has_material_basis_in heterozygous mutation in the gene encoding folliculin (FLCN) on chromosome 17p11. [-]
Bjornstad syndrome	BJS; deafness-pili torti-hypogonadism syndrome; PT.. [+] BJS; deafness-pili torti-hypogonadism syndrome; PTD; [-]	A syndrome that is characterized by early onset of..[+] 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; .. [+] Jabs syndrome; ARTHROCUTANEOUVEAL GRANULOMATOSIS; BLAUS; [-]	A syndrome characterized by familial granulomatous..[+] A syndrome characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has_material_basis_in heterozygous mutations in the NOD2 gene. [-]
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); Incontinentia pigmenti syndrome; Incontinentia pigmenti; [-]	n_a
Bloom syndrome	Bloom-Torre-Machacek syndrome; Congenital Telangie.. [+] Bloom-Torre-Machacek syndrome; Congenital Telangiectatic Erythema syndrome; [-]	A syndrome characterized by sun sensitivity, short..[+] A syndrome 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 Mammarenavirus machupoense, 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		An osteochondrodysplasia that is characterized by ..[+] An osteochondrodysplasia that is characterized by severe dwarfism, dislocated joints, club feet, distinctive facies and dysplastic tubular bones with boomerang-like bowing, has_material_basis_in heterozygous mutation in the FLNB gene on chromosome 3p14. [-]
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	BORJ; Borjeson syndrome; mental retardation, epile.. [+] BORJ; Borjeson syndrome; mental retardation, epilepsy, and endocrine disorder; syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type; MRXSBFL; BFLS; intellectual deficiency-epilepsy-endocrine disorders syndrome; [-]	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. [-]
Borrelia miyamotoi disease	BMD; hard tick-borne relapsing fever;	A primary bacterial infectious disease that has_ma..[+] A primary bacterial infectious disease that has_material_basis_in Borrelia miyamotoi, which is transmitted_by the blacklegged tick (Ixodes scapularis), the western blacklegged tick (Ixodes pacificus), the taiga tick (Ixodes persulcatus), or the castor bean tick (Ixodes ricinus). The infection has_symptom fever, headache, chills, muscle pain, joint pain, asthenia, fatigue and nausea, and rarely relapses. [-]
Borst-Jadassohn intraepidermal carcinoma	Bowen's disease, clonal (disorder); Intraepidermal.. [+] Bowen's disease, clonal (disorder); Intraepidermal Epithelioma of Jadassohn; Bowen's disease, clonal; [-]	n_a
Bosch-Boonstra-Schaaf optic atrophy syndrome	BBSOAS; optic atrophy-intellectual disability synd.. [+] BBSOAS; optic atrophy-intellectual disability syndrome; [-]	A syndrome characterized by delayed development, m..[+] A syndrome characterized by delayed development, moderate intellectual disability, and optic atrophy that has_material_basis_in heterozygous mutation in the NR2F1 gene on chromosome 5q15. [-]
Bothnia retinal dystrophy	Vasterbotten dystrophy;	A fundus dystrophy that is characterized by early ..[+] A fundus dystrophy that is characterized by early onset of night blindness and decreased visual acuity that progresses to blindness in early adulthood, has_material_basis_in mutation in RLBP1 gene. [-]
Bothnian type palmoplantar keratoderma	diffuse palmoplantar keratoderma, Bothnian type; P.. [+] diffuse palmoplantar keratoderma, Bothnian type; PPKB; [-]	A nonepidermolytic palmoplantar keratoderma charac..[+] A nonepidermolytic palmoplantar keratoderma characterized by a diffuse nonepidermolytic form of palmoplantar keratoderma where the affected areas take on a white, spongy appearance upon exposure to water that has_material_basis_in heterozygous mutation in the AQP5 gene on chromosome 12q13.12. [-]
Boucher-Neuhauser syndrome	ataxia-hypogonadism-choroidal dystrophy syndrome;	A syndrome characterized by spinocerebellar ataxia..[+] A syndrome characterized by spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2. [-]
Bowen-Conradi syndrome	Bowen Hutterite syndrome; Bowen-Conradi Hutterite .. [+] Bowen Hutterite syndrome; Bowen-Conradi Hutterite syndrome; BWCNS; [-]	A syndrome that is characterized by growth delays,..[+] A syndrome that is characterized by growth delays, failure to thrive and malformations of the head and face that results in infantile death, has_material_basis_in homozygous mutation in the EMG1 gene on chromosome 12p13. [-]	1 articles
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 Mammarenavirus brazilense, 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's disease; Brill-Zinsser disease (disorder);.. [+] Brill's disease; Brill-Zinsser disease (disorder); Latent typhus; Recrudescent typhus; Sporadic typhus; Brill Zinsser disease; [-]	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	BRSS; BSS; CYLD cutaneous syndrome; Spiegler-Brook.. [+] BRSS; BSS; CYLD cutaneous syndrome; Spiegler-Brooke Syndrome; SBS; [-]	A skin disease that is characterized by the develo..[+] A skin disease that is characterized by the development of several types of tumors from the skin, has_material_basis_in heterozygous mutation in the CYLD gene on chromosome 16q12. [-]
Brown's tendon sheath syndrome	Brown tendon sheath syndrome; Brown's sheath syndr.. [+] Brown tendon sheath syndrome; Brown's sheath syndrome; Brown's (tendon) sheath syndrome; [-]	A mechanical strabismus that is characterized by i..[+] A mechanical strabismus that is characterized by impairment of eye movements. [-]

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