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Disease	Synonyms	Description	Articles	Phenotypes
Bartholin's gland cancer		A vulva cancer that is located in Bartholin's glan..[+] A vulva cancer that is located in Bartholin's gland. [-]
benign vascular tumor		n_a
benign neoplasm		A disease of cellular proliferation that results i..[+] A disease of cellular proliferation that results in abnormal growths in the body which lack the ability to metastasize. [-]		4 matches
breast benign neoplasm		A thoracic benign neoplasm that is characterized b..[+] A thoracic benign neoplasm that is characterized by lack of malignancy. [-]
bone benign neoplasm		A connective tissue benign neoplasm that is locate..[+] A connective tissue benign neoplasm that is located_in bone. [-]
brain meningioma		A brain cancer that is characterized by tumor of t..[+] A brain cancer that is characterized by tumor of the meninges, that develops from the membranes that surround the brain and spinal cord, has_material_basis_in abnormally proliferating cells derives_from meningeal cells of embryonic ectoderm origin. [-]
brain glioma	lower grade glioma	A brain cancer that has_material_basis_in glial ce..[+] A brain cancer that has_material_basis_in glial cells. [-]	1 articles
body dysmorphic disorder	body dysmorphia; dysmorphophobia; dysmorphic syndr.. [+] body dysmorphia; dysmorphophobia; dysmorphic syndrome [-]	A somatoform disorder that involves an excessive c..[+] A somatoform disorder that involves an excessive concern about and preoccupation with a perceived defect in his or her physical features (body image). [-]
bipolar ll disorder		A bipolar disorder that is characterized by at lea..[+] A bipolar disorder that is characterized by at least one hypomanic episode and at least one major depressive episode; with this disorder, depressive episodes are more frequent and more intense than manic episodes. [-]
benign familial infantile epilepsy	benign familial infantile seizures; BFIC; BFIE; be.. [+] BFIE; BFIC; benign familial infantile seizures; benign familial infantile convulsion; BFIE [-]	An infancy electroclinical syndrome that is charac..[+] An infancy electroclinical syndrome that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae. [-]
Balo concentric sclerosis	Balo's concentric sclerosis; Balo disease; Tumefac.. [+] Balo disease; Balo's concentric sclerosis; Tumefactive multiple sclerosis [-]	A multiple sclerosis that is characterized by conc..[+] A multiple sclerosis that is characterized by concentric layers of demyelinated tissues, tumor-like lesions larger than two centimeters and symptoms similar to those of a brain tumor. [-]
Baraitser-Winter syndrome		A syndrome characterized by distinctive facial fea..[+] A syndrome characterized by distinctive facial features including hypertelorism, large eyelid openings, ptosis, high-arched eyebrows, a broad nasal bridge and tip of the nose, a long space between the nose and the upper lip, full cheeks and a pointed chin; structural abnormalities of the brain might also be present. [-]
basal ganglia calcification	Fahr disease	A basal ganglia disease characterized by the prese..[+] A basal ganglia disease characterized by the presence of abnormal calcium deposits of unknown cause in the brain; has symptom dementia, psychosis, mood swings and loss of acquired motor skills. [-]
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. [-]
branchiootic syndrome	branchiootic dysplasia; BOR; BO syndrome	A syndrome characterized by malformations of the o..[+] A syndrome characterized by malformations of the outer, middle and inner ear and branchial and renal malformations. Mutations of the EYA1, SIX1 and SIX5 genes are associated with the syndrome. [-]	4 articles	26 matches
breast abscess		A breast disease characterized by a collection of ..[+] A breast disease characterized by a collection of pus in the breast. [-]
bacillary angiomatosis		A bartonellosis that has_material_basis_in Bartone..[+] A bartonellosis that has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella quintana. The disease is characterized by the proliferation of blood vessels, resulting in them forming tumour-like masses in the skin and other organs. [-]
beta-lactam allergy		A drug allergy triggered by a beta-lactam.
brown shrimp allergy	Farfantepenaeus aztecus allergy	A crustacean allergy triggered by Farfantepenaeus ..[+] A crustacean allergy triggered by Farfantepenaeus aztecus. [-]
Barber-Say syndrome		A syndrome characterized by d by the association o..[+] A syndrome characterized by d by the association of excessive hair growth (hypertrichosis), papery thin and fragile (atrophic) skin, outward turned eyelids (ectropion) and a large mouth (macrostomia). It is that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37. [-]
B-cell adult acute lymphocytic leukemia	B-cell adult acute lymphocytic leukaemia; adult B .. [+] B-cell adult acute lymphocytic leukaemia; adult B acute lymphoblastic leukemia; adult b-cell acute lymphoblastic leukemia; adult B-lymphoblastic leukemia; adult B acute lymphoblastic leukaemia; adult b-cell lymphocytic leukemia; adult b-cell acute lymphoblastic leukaemia; adult b-cell lymphocytic leukaemia; adult B-lymphoblastic leukaemia [-]	An adult acute lymphoblastic leukemia occurring in..[+] An adult acute lymphoblastic leukemia occurring in adults and that has_material_basis_in B lymphocytes. [-]
Brunner Syndrome	monoamine oxidase A deficiency	An amino acid metabolic disorder characterized by ..[+] An amino acid metabolic disorder characterized by recessive X-linked inheritance, impaired monoamine metabolism, impulsive aggressiveness and mild mental retardation that has_material_basis_in mutation in the MAOA gene on chromosome Xp11. [-]
basal laminar drusen	cuticular drusen; drusen of bruch membrane; early .. [+] cuticular drusen; drusen of bruch membrane; early adult-onset grouped drusen [-]	A retinal drusen characterized by yellow-white dep..[+] A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has_material_basis_in mutations in the CFH gene on chromosome 1q31.3. [-]
bullous congenital ichthyosiform erythroderma	bullous type ichthyosis; superficial epidermolytic.. [+] bullous type ichthyosis; superficial epidermolytic ichthyosis; ichthyosis bullosa of Siemens [-]	An ichthyosis characterized by congenital erythema..[+] An ichthyosis characterized by congenital erythema and widespread skin blistering, blisters develop into gray hyperkeratoses with a lichenified appearance, and that has_material_basis_in heterozygous mutation in the KRT2 gene on chromosome 12q13. [-]
bent bone dysplasia syndrome 1		A bone remodeling disease characterized by poor mi..[+] A bone remodeling disease characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26. [-]
bent bone dysplasia syndrome 2		A bone remodeling disease characterized by defects..[+] A bone remodeling disease characterized by defects in both the axial and appendicular skeleton, with radiographic findings of undermineralized bone and a distinct angulation of the mid femoral shaft that has_material_basis_incompound heterozygous mutation in the LAMA5 gene on chromosome 20q13. [-]
Brunet-Wagner neurodevelopmental syndrome	BRUWAG	An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder characterized by infantile hypotonia and severely impaired development affecting both motor and cognitive skills that has_material_basis_in homozygous or compound heterozygous mutation in the RBL2 gene on chromosome 16q12. [-]
blastoma		A cell type cancer that has_material_basis_in abno..[+] A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from precursor cells called blast cells. [-]
benign recurrent intrahepatic cholestasis	BRIC; Summerskill-Walshe-Tygstrup syndrome	An intrahepatic cholestasis characterized by inter..[+] An intrahepatic cholestasis characterized by intermittent, recurrent episodes of intrahepatic cholestasis mostly without progression to liver damage or extrahepatic bile duct obstruction. [-]
benign recurrent intrahepatic cholestasis 1	BRIC1; BRIC type 1; Summerskill syndrome	A benign recurrent intrahepatic cholestasis charac..[+] A benign recurrent intrahepatic cholestasis characterized by typically autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q. [-]
benign recurrent intrahepatic cholestasis 2	BRIC2; BRIC type 2	A benign recurrent intrahepatic cholestasis charac..[+] A benign recurrent intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31. [-]
breast implant-associated anaplastic large cell lymphoma		A peripheral T-cell lymphoma characterized by deve..[+] A peripheral T-cell lymphoma characterized by development around textured-surface breast implants confined to the capsule. [-]
bradyopsia 1	prolonged electroretinal response suppression 1	A braydopsia that has_material_basis_in homozygous..[+] A braydopsia that has_material_basis_in homozygous or compound heterozygous mutation in the RGS9 gene on chromosome 17q24. [-]
bradyopsia 2	prolonged electroretinal response suppression 2	A braydopsia that has_material_basis_in homozygous..[+] A braydopsia that has_material_basis_in homozygous mutation in the RGS9BP gene on chromosome 19q13. [-]
brachycephaly, trichomegaly, and developmental delay	BTDD; Macinnes syndrome; MCINS	A syndrome characterized by brachycephaly, trichom..[+] A syndrome characterized by brachycephaly, trichomegaly, and developmental delay, without anemia, that has_material_basis_in heterozygous mutation in the RPS23 gene on chromosome 5q14. [-]
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. [-]
B-lymphoblastic leukemia with MEF2D rearrangement	B-lymphoblastic leukaemia with MEF2D rearrangement.. [+] B-lymphoblastic leukaemia with MEF2D rearrangement [-]	A B-lymphoblastic leukemia/lymphoma associated wit..[+] A B-lymphoblastic leukemia/lymphoma associated with MEF2D gene rearrangement. [-]
B-lymphoblastic leukemia with MYC rearrangement	B-lymphoblastic leukaemia with MYC rearrangement; .. [+] B-lymphoblastic leukaemia with MYC rearrangement; B Acute Lymphoblastic Leukemia with MEF2D Rearrangement [-]	A B-lymphoblastic leukemia/lymphoma associated wit..[+] A B-lymphoblastic leukemia/lymphoma associated with MYC gene rearrangement. [-]
B-lymphoblastic leukemia with NUTM1 rearrangement	B-lymphoblastic leukaemia with NUTM1 rearrangement.. [+] B-lymphoblastic leukaemia with NUTM1 rearrangement [-]	A B-lymphoblastic leukemia/lymphoma associated wit..[+] A B-lymphoblastic leukemia/lymphoma associated with NUTM1 gene rearrangement. [-]
B-lymphoblastic leukemia with PAX5alt	B-lymphoblastic leukaemia with PAX5alt; B-Acute Ly.. [+] B-lymphoblastic leukaemia with PAX5alt; B-Acute Lymphoblastic Leukemia with PAX5 Alteration [-]	A B-lymphoblastic leukemia/lymphoma associated wit..[+] A B-lymphoblastic leukemia/lymphoma associated with PAX5 gene alteration, including rearrangements, point mutations, and intragenic lesions. [-]
B-lymphoblastic leukemia with TCF3-HLF fusion	B-lymphoblastic leukemia with TCF3::HLF fusion; B-.. [+] B-lymphoblastic leukemia with TCF3::HLF fusion; B-lymphoblastic leukaemia with TCF3::HLF fusion; B Lymphoblastic Leukemia/Lymphoma with TCF3-HLF Rearrangement; B Lymphoblastic Leukemia/Lymphoma with TCF3-HLF Fusion [-]	A B-lymphoblastic leukemia/lymphoma associated wit..[+] A B-lymphoblastic leukemia/lymphoma associated with TCF3-HLF gene rearrangement. [-]
B-lymphoblastic leukemia with ZNF384 rearrangement	B-lymphoblastic leukaemia with ZNF384 rearrangemen.. [+] B-lymphoblastic leukaemia with ZNF384 rearrangement [-]	A B-lymphoblastic leukemia/lymphoma associated wit..[+] A B-lymphoblastic leukemia/lymphoma associated with ZNF384 gene rearrangement. [-]
bone disease	skeletal disease	A connective tissue disease that affects the struc..[+] A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function. [-]	1 articles	40 matches
bone remodeling disease		A bone disease that results_in formation or resorp..[+] A bone disease that results_in formation or resorption abnormalities located_in bone. [-]
bone development disease		A bone disease that results_in abnormal growth and..[+] A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage. [-]	2 articles	9 matches
bone deterioration disease		A bone structure disease that results_in change or..[+] A bone structure disease that results_in change or damage of structure located_in bone. [-]
bone structure disease		A bone disease that has_material_basis_in an abnor..[+] A bone disease that has_material_basis_in an abnormality in the location or function of the skeletal structure. [-]		23 matches
bone resorption disease		A bone remodeling disease that results in an abnor..[+] A bone remodeling disease that results in an abnormal decrease of bone density or mass. [-]
bladder exstrophy-epispadias-cloacal exstrophy complex	exstrophy-epispadias complex	A physical disorder that is characterized as a spe..[+] A physical disorder that is characterized as a spectrum of anomalies involving the urinary tract, genital tract, musculoskeletal system and sometimes the intestinal tract. [-]	1 articles
bladder exstrophy		A bladder exstrophy-epispadias-cloacal exstrophy c..[+] A bladder exstrophy-epispadias-cloacal exstrophy complex that is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall. The rear portion of the bladder wall (posterior vesical wall) turns outward (exstrophy) through an opening in the abdominal wall and urine is excreted through this opening. [-]	1 articles

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