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Disease	Synonyms	Description
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 cort.. [+] Aldosteronism with hyperplasia of the adrenal cortex; Bartter's syndrome; [-]	n_a
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. [-]
Bartter disease type 2	BARTS2; Bartter syndrome type 2; Bartter syndrome .. [+] BARTS2; Bartter syndrome type 2; Bartter syndrome type 2 antenatal; hyperprostaglandin E syndrome 2; hypokalemic alkalosis with hypercalciuria 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. [-]
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. [-]
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	BARTS4B; Bartter syndrome, type 4b, digenic; neona.. [+] BARTS4B; Bartter syndrome, type 4b, digenic; 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. [-]
Beare-Stevenson cutis gyrata syndrome		n_a
Becker muscular dystrophy	benign congenital myopathy; Benign pseudohypertrop.. [+] benign congenital myopathy; Benign pseudohypertrophic muscular dystrophy; [-]	n_a
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); [-]	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 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
Behr syndrome	Abortive cerebellar ataxia (BEHRS); BEHRS; optic a.. [+] 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-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; Giant platelet syndrome (disorder); Hemorrhagic dystrophic thrombocytopenia; Thrombopathy, Bernard-Soulier; Giant platelet syndrome; [-]	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. [-]
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); Incontinentia pigmenti; Incontinentia pigmenti syndrome; [-]	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 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
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;	n_a
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		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		A syndrome that is characterized by sensorineural ..[+] A syndrome that is characterized by sensorineural hearing loss and a variety of cranial nerve palsies, usually involving the motor components of the seventh and ninth to twelfth cranial nerves. [-]

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