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BabesiosisA parasitic protozoa infectious disease that causes mild fevers and causes anemia described as malaria-like symptoms caused by a protozoan of genus Babesia, which reproduce in red blood cells and cause hemolytic anemia.Bacillary AngiomatosisA bartonellosis that is caused by Bartonella henselae or is caused by Bartonella quintana. The disease is characterized by the proliferation of blood vessels, resulting in them forming tumour-like masses in the skin and Bacterial ExanthemAn exanthem that is characterized by a diffuse, reddened, blanchable, finely papular, sandpaper like rash due to infection by group A streptococcus and the production of an erythrogenic toxin.Bacterial GastritisA gastritis that involves inflammation of the stomach lining caused by bacteria. The disease causes abdominal pain, causes indigestion, causes ulcer formation, causes abdominal bloating, causes nausea and causes vomiting Bacterial Infectious DiseaseA disease by infectious agent that causes infection, is caused by Bacteria.Bacterial MeningitisA meningitis that is caused by a bacterial infection.Bacterial PneumoniaA pneumonia involving inflammation of the lungs caused by bacteria.Bacterial SepsisA bacterial infectious disease is caused by Bacteria.Bacterial VaginosisA vaginitis that is characterized by a grayish vaginal discharge usually of foul odor and the presence of Gardnerella vaginalis.BacteriuriaA urinary system disease which consists of the presence of bacteria in urine.BagassosisAn extrinsic allergic alveolitis that is an industrial disease characterized by cough, difficult breathing, chills, fever, and prolonged weakness caused by the inhalation of the dust of bagasse containing thermophilic ac Bainbridge-Ropers SyndromeA syndrome that is characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features and that is cau Balanitis Xerotica ObliteransA balantitis characterized by white plaques or patches on genitals.BalantidiasisA parasitic protozoa infectious disease involving infection caused by Balantidium coli. The trophozoites are capable of attacking the intestinal epithelium, creating ulcers and causing bloody diarrhea. The infectiou caus Balkan Hemorrhagic FeverA hemorrhagic fever with renal syndrome that results in infection located in kidney, is caused by Dobrava-Belgrade virus (Orthohantavirus dobravaense), which is transmitted by yellow-necked field mouse, Apodemus flavicol Balkan NephropathyAn interstitial nephritis endemic to the regions along the Danube river, in the modern countries of Croatia, Bosnia and Herzegovina, Serbia, Romania and Bulgaria.Ballard SyndromeA brachydactyly characterized by autosomal dominant inheritance of hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals but normal stature.Baller-Gerold SyndromeA synostosis characterized by coronal craniosynostosis, short stature, and aplasia or hypoplasia of the radial bone.Balloon Cell Malignant MelanomaA skin melanoma that is characterized by the presence of nodules which contain large melanoma cells with clear, foamy or finely vacuolated cytoplasm.Balo Concentric SclerosisA 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.Bamforth-Lazarus SyndromeA hypothyroidism that is characterized by thyroid dysgenesis, cleft palate, spiky hair and bifid epiglottis, is caused by homozygous mutation in the FKHL15 gene on chromosome 9q22.Baraitser-Winter SyndromeA 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 Baraitser-Winter Syndrome 1A Baraitser-Winter syndrome that is caused by heterozygous mutation in the ACTB gene on chromosome 7p22. A subset of patients have a larger deletion of chromosome 7p22 including the ACTB gene and additional variable gene Baraitser-Winter Syndrome 2A Baraitser-Winter syndrome that is caused by heterozygous mutation in the ACTG1 gene on chromosome 17q25.Barber-Say SyndromeA 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 is cause Barbiturate AbuseA substance abuse that involves the recurring use of barbiturate drugs despite negative consequences.Barbiturate DependenceA drug dependence that involves the continued use of barbiturates despite problems related to use of the substance.Bardet-Biedl SyndromeA syndrome that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,Bardet-Biedl Syndrome 1A Bardet-Biedl syndrome that is caused by homozygous mutation in the BBS1 gene on chromosome 11q13.Bardet-Biedl Syndrome 10A Bardet-Biedl syndrome that is caused by homozygous or compound heterozygous mutation in the BBS10 gene on chromosome 12q21.Bardet-Biedl Syndrome 11A Bardet-Biedl syndrome that is caused by mutation in the TRIM32 gene on chromosome 9q33.Bardet-Biedl Syndrome 12A Bardet-Biedl syndrome that is caused by homozygous or compound heterozygous mutation in the BBS12 gene on chromosome 4q27.Bardet-Biedl Syndrome 13A Bardet-Biedl syndrome that is caused by compound heterozygous mutation in the MKS1 gene on chromosome 17q22.Bardet-Biedl Syndrome 14A Bardet-Biedl syndrome that is caused by homozygous mutation in the CEP290 gene on chromosome 12q21.Bardet-Biedl Syndrome 15A Bardet-Biedl syndrome that is caused by homozygous mutation in the WDPCP gene on chromosome 2p15.Bardet-Biedl Syndrome 16A Bardet-Biedl syndrome that is caused by homozygous or compound heterozygous mutations in the SDCCAG8 gene on chromosome 1q43.Bardet-Biedl Syndrome 17A Bardet-Biedl syndrome that is caused by homozygous or compound heterozygous mutation in the LZTFL1 gene on chromosome 3p21.Bardet-Biedl Syndrome 18A Bardet-Biedl syndrome that is caused by homozygous mutation in the BBIP1 gene on chromosome 10q25.Bardet-Biedl Syndrome 19A Bardet-Biedl syndrome that is caused by homozygous mutation in the IFT27 gene on chromosome 22q12.Bardet-Biedl Syndrome 2A Bardet-Biedl syndrome that is caused by homozygous or compound heterozygous mutations in the BBS2 gene on chromosome 16q13.Bardet-Biedl Syndrome 20A Bardet-Biedl syndrome that is characterized by rod-cone dystrophy, postaxial polydactyly, truncal obesity, renal anomalies, and learning disability, as well as hypogonadism in males and genital abnormalities in females Bardet-Biedl Syndrome 21A Bardet-Biedl syndrome that is characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment and that is caused by homozygous mutation in the C8ORF37 gene on chromosome 8q22.Bardet-Biedl Syndrome 22A Bardet-Biedl syndrome that is retinitis pigmentosa, obesity, polydactyly, hypogonadism, and intellectual disability is caused by compound heterozygous or homozygous mutation in the IFT74 gene on chromosome 9p21.Bardet-Biedl Syndrome 3A Bardet-Biedl syndrome that is caused by homozygous mutation in the ARL6 gene on chromosome 3q11.Bardet-Biedl Syndrome 4A Bardet-Biedl syndrome that is caused by homozygous mutation in the BBS4 gene on chromosome 15q24.Bardet-Biedl Syndrome 5A Bardet-Biedl syndrome that is caused by homozygous mutation in the BBS5 gene on chromosome 2q31.Bardet-Biedl Syndrome 6A Bardet-Biedl syndrome that is caused by homozygous or compound heterozygous mutation in the MKKS gene on chromosome 20p12.Bardet-Biedl Syndrome 7A Bardet-Biedl syndrome characterized by retinitis pigmentosa, postaxial polydactyly, impaired intellectual development, obesity, renal anomalies, and hypogenitalism that is caused by homozygous mutation in the BBS7 gene Bardet-Biedl Syndrome 8A Bardet-Biedl syndrome that is caused by homozygous mutation in the TTC8 gene on chromosome 14q31.Bardet-Biedl Syndrome 9A Bardet-Biedl syndrome that is caused by homozygosity or compound heterozygosity for mutations in the PTHB1 gene on chromosome 7p14.BaritosisA pneumoconiosis that is characterized by the formation of fine dense lesions in the lung parenchyma, caused by long standing exposure to barium dust. The lesions do not affect the lung function and disappear without tre Barmah Forest Virus DiseaseA viral infectious disease that causes infection in joint, is caused by Barmah Forest virus (Alphavirus barmah), which is transmitted by mosquito bite. The infection causes fever, causes arthralgia, and causes rash.Barre-Lieou SyndromeA syndrome that involves occipital head aches, nystagmus on head movement, tinnitus, spasms, blurred vision, corneal hyperaesthesia, and corneal ulcers.Barrett's EsophagusPrecancerous changes in the esophagus lining from chronic reflux.Bartholin'S Duct CystA female reproductive system disease that is characterized by a fluid-filled swelling in the Bartholin's glands.Bartholin'S Gland AdenocarcinomaA Bartholin's gland carcinoma that arises from epithelial cells originating in glandular tissue.Bartholin'S Gland Adenoid Cystic CarcinomaA Bartholin's gland carcinoma that is characterized by a distinctive pattern in which abnormal nests and columns of cells of bland appearance are arranged concentrically around glandlike spaces filled with eosinophilic p Bartholin'S Gland AdenomaA Bartholin's gland benign neoplasm that is characterized by glands or glandlike structures and is caused by epithelial tissue.Bartholin'S Gland AdenomyomaA Bartholin's gland benign neoplasm that is caused by gland and muscle components.Bartholin'S Gland Adenosquamous CarcinomaA Bartholin's gland carcinoma that arises from squamous cells and gland-like cells.Bartholin'S Gland CancerA vulva cancer that is located in Bartholin's gland.Bartholin'S Gland CarcinomaA vulva carcinoma that is caused by abnormally proliferating cells arises from epithelial cells and is in Bartholin's gland.Bartholin'S Gland DiseaseA female reproductive system disease that is located in Bartholin's gland.Bartholin'S Gland Small Cell CarcinomaA small cell carcinoma that is characterized as an undifferentiated neoplasm composed of primitive-appearing cells and in Bartholin's gland.Bartholin'S Gland Squamous Cell CarcinomaA Bartholin's gland carcinoma that arises from squamous epithelial cells.Bartholin'S Gland Transitional Cell CarcinomaA Bartholin's gland carcinoma that arises from transitional epithelial cells.Barth SyndromeA 3-methylglutaconic aciduria that is caused by X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin.BartonellosisA primary bacterial infectious disease that is caused by the bacteria of the genus Bartonella.Bart-Pumphrey SyndromeA syndrome that is characterized by leukonychia, wart-like skin growths, palmoplantar keratoderma and hearing loss, is caused by heterozygous mutation in the GJB2 gene on chromosome 13q12.Bartter Disease Type 1A Bartter disease that is caused by homozygous or compound heterozygous mutation in the sodium-potassium-chloride cotransporter-2 gene (SLC12A1) on chromosome 15q21.Bartter Disease Type 2A Bartter disease that is caused by homozygous or compound heterozygous mutation in the potassium channel ROMK gene (KCNJ1) on chromosome 11q24.Bartter Disease Type 3A Bartter disease that is caused by homozygous or compound heterozygous mutation in the kidney chloride channel B gene (CLCNKB) on chromosome 1p36.Bartter Disease Type 4aA Bartter disease that is caused by homozygous or compound heterozygous mutation in the BSND gene on chromosome 1p32.Bartter Disease Type 4bA Bartter disease that is caused by simultaneous mutation in both the CLCNKA and CLCNKB genes.Bartter Disease Type 5A Bartter disease that is caused by mutation in the MAGED2 gene on chromosome Xp11.Basal Cell CarcinomaThe most common, slow-growing type of skin cancer.Basal Ganglia CalcificationA 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.Basal Ganglia DiseaseA brain disease that is characterized by dysfunctional movement, in basal ganglia that is caused by diseased components of the basal ganglia and associated neural circuits.Basal Laminar DrusenA retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that is caused by mutations in the CFH gene on chromosome 1q31.3.Basaloid Squamous Cell CarcinomaA squamous cell carcinoma that has a solid, closely packed growth of cells with hyperchromatic nuclei, scant cytoplasm, small cystic spaces, and foci of necrosis. It has overlying squamous dysplasia, rare foci of overt k BASAN SyndromeAn ectodermal dysplasia that is characterized by neonatal blisters and milia and congenital absence of dermatoglyphics on the hands and feet.BasidiobolomycosisA subcutaneous mycosis that involves a chronic inflammatory or granulomatous fungal infection of the subcutaneous tissue of the limbs, chest, back or buttocks caused by Basidiobolus ranarum. Lesions appear as subcutaneou Basilicata-Akhtar SyndromeA syndromic X-linked intellectual disability characterized by global developmental delay apparent from infancy, feeding difficulties, hypotonia, and poor or absent speech that is caused by hemizygous or heterozygous muta Batten DiseaseA group of rare inherited disorders affecting the nervous system.BaylisascariasisA parasitic helminthiasis infectious disease that involves parasitic infection of the intestine caused by the larvae of Baylisascaris procyonis, which can invade the spinal cord, brain, and eye of humans, resulting in pe BCARD SyndromeA connective tissue disease characterized by bone abnormalities, including low bone mineral density, scoliosis, contractures of the fingers and other joints, prominent knees, and rare pathologic fractures; cataract and o B-Cell Acute Lymphoblastic LeukemiaAn acute lymphocytic leukemia characterized by too many B-cell lymphoblasts (immature white blood cells) in the bone marrow and blood.B-Cell Adult Acute Lymphocytic LeukemiaAn adult acute lymphoblastic leukemia occurring in adults and that is caused by B lymphocytes.B Cell and Dendritic Cell DeficiencyA combined immunodeficiency characterized by impaired function or reduced numbers of dendritic cells and B cells.B Cell DeficiencyA primary immunnodeficiency disease that is caused by a lack of infection-fighting antibody producing B cells (immunoglobulins) or B cells that are not functioning properly.B-Cell LymphomaA non-Hodgkin lymphoma that is caused by B cells.B-Cell Prolymphocytic LeukemiaA prolymphocytic leukemia that is characterized by medium-sized, round lymphoid cells with prominent nucleoli exceeding 55% of lymphoid cells in the blood.BCOR-CCNB3 SarcomaA sarcoma with BCOR genetic alterations that is characterized by the presence of BCOR-CCNB3 fusion gene.BCOR ITD SarcomaA sarcoma with BCOR genetic alterations that is characterized by the presence of BCOR internal tandem duplication.Beach EarAn otitis externa which is a microbial infection that occurs suddenly, rapidly worsens, and becomes very painful and alarming. It is caused by swimming in polluted water, scratching the ear or inside the ear and object s Beare-Stevenson Cutis Gyrata SyndromeA syndrome that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, is caused by heterozygous mutation in the FGFR2 gene on chromosome 10q26.Becker DiseaseA myotonia congenita that is characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction and that is caused by homozygous or compound heterozygous mutation in the gene encoding s Becker Muscular DystrophyA milder form of muscular dystrophy.Beckwith-Wiedemann SyndromeA syndrome characterized by overgrowth (macrosomia), an increased risk of childhood cancer and congenital malformations.Beemer-Langer SyndromeA syndrome that causes multiple congenital anomalies, including hydrops fetalis, facial and visceral abnormalities, short ribs, and short limbs without polydactyly.Behçet's DiseaseInflammation of blood vessels causing mouth sores and other symptoms. Tracking your symptoms and connecting with others who understand can help you manage day to day.Behr SyndromeA nervous system disease characterized by early-onset optic atrophy, ataxia, pyramidal signs, spasticity, and intellectual disability that is caused by homozygous or compound heterozygous mutation in the OPA1 gene on chr BejelA primary bacterial infectious disease that results in infection located in mucosa of mouth, located in skin or located in bone, is caused by Treponema pallidum subsp endemicum, which is transmitted by contact or transmi Bell's PalsyTemporary weakness or paralysis on one side of the face. Tracking your symptoms and connecting with others who understand can help you manage day to day.Benign Breast AdenomyoepitheliomaA breast benign neoplasm that is characterized by dual differentiation into luminal cells and myoepithelial cells.Benign Breast Phyllodes TumorA breast benign neoplasm that is caused by epithelial and stromal tissue and arises from periductal stromal cells of the breast.Benign Eccrine Breast SpiradenomaA breast benign neoplasm that arises from cutaneous sweat glands and is characterized microscopically by two-cell populations: small, dark, basaloid cells with hyperchromatic nuclei, which are immunoreactive for P63 and Benign Epilepsy with Centrotemporal SpikesA childhood electroclinical syndrome characterized by partial seizures involving the rolandic area of the brain and electroencephalographic centrotemporal sharp waves.Benign Exocrine Pancreas NeoplasmAn endocrine organ benign neoplasm arising from the exocrine pancreas.Benign Familial HematuriaA urinary system disease characterized by the presence of blood in the urine, thinning of the glomerular basement membrane and normal renal function that is caused by heterozygous mutation in the COL4A3 gene or the COL4A Benign Familial Infantile EpilepsyAn 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 seq Benign Familial Infantile Seizures 1A benign familial infantile epilepsy 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 se Benign Familial Infantile Seizures 2A benign familial infantile epilepsy 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 se Benign Familial Infantile Seizures 3A benign familial infantile epilepsy 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 se Benign Familial Infantile Seizures 4A benign familial infantile epilepsy 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 se Benign Familial Infantile Seizures 5A benign familial infantile epilepsy 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 se Benign Ileal NeoplasmA small intestine benign neoplasm that affects the wall of the ileum.Benign Mammary DysplasiaA breast benign neoplasm that encompasses a range of conditions in which there is marked change in the breast tissue.Benign MesotheliomaA cell type benign neoplasm that is caused by mesothelium.Benign Neonatal SeizuresA neonatal period electroclinical syndrome that is characterized by tonic-clonic seizures in newborns occurring within the first seven days of life and ceasing within the first 15 weeks of life and is caused by autosomal Benign NeoplasmA disease of cellular proliferation that results in abnormal growths in the body which lack the ability to metastasize.Benign Paroxysmal Positional VertigoA peripheral vertigo that is characterized by episodic vertigo followed by gait imbalance and oscillopsia with profound bilateral vestibular loss despite normal hearing.Benign Peritoneal Solitary Fibrous TumorA peritoneal benign neoplasm that is characterized by the presence of prominent hemangiopericytoma-like vessels.Benign Prostatic HyperplasiaA noncancerous enlarged prostate.Benign Recurrent Intrahepatic CholestasisAn 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 1A benign recurrent intrahepatic cholestasis characterized by typically autosomal recessive inheritance that is caused by mutation in the ATP8B1 gene on chromosome 18q.Benign Recurrent Intrahepatic Cholestasis 2A benign recurrent intrahepatic cholestasis characterized by autosomal recessive inheritance that is caused by mutation in the ABCB11 gene on chromosome 2q31.Benign Renovascular HypertensionA benign secondary hypertension that is characterized by chronic elevated blood pressure in the arteries supplying blood to the kidneys and is caused by renal artery stenosis.Benign TeratomaA germ cell benign neoplasm that arises from mature tissue elements or a limited amount of immature tissue elements.Benign Vaginal CarcinosarcomaA vaginal benign neoplasm that is caused by carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components.Bent Bone Dysplasia Syndrome 1A 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 is caus Bent Bone Dysplasia Syndrome 2A 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 is caused bycomp Benzo[d]isothiazol-3-One Allergic Contact DermatitisAn allergic contact dermatitis that triggered by benzo[d]isothiazol-3-one.Benzoic Acid Allergic Contact DermatitisAn allergic contact dermatitis that triggered by benzoic acid.Benzylpenicillin AllergyA beta-lactam allergy that triggered by benzylpenicillin.BeriberiA thiamine deficiency disease that is characterized by being severe and chronic.Bernard-Soulier SyndromeA 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 platel Bernard-Soulier Syndrome Type A2A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that is caused by heterozygous mutations in the GP1B BerylliosisA pneumoconiosis that involves allergic response in lungs caused by inhalation of beryllium compounds.BestrophinopathyA macular degeneration that is characterized by central vision loss, an absent electrooculogram light rise and a reduced electroretinogram, is caused by autosomal recessive inheritance of homozygous or compound heterozyg Beta-Ketothiolase DeficiencyAn amino acid metabolic disorder characterized by inability to process isoleucine and ketones, causes recurrent ketoacidotic attacks in infancy marked by vomiting, lethargy, dehydration, and seizures, and is caused by mu Beta-Lactam AllergyA drug allergy triggered by a beta-lactam.Beta-MannosidosisA lysosomal storage disease that is caused by deficiency of the beta-A-manosidase enzyme resulting in the disruption of N-linked glycoprotein oligosaccharide catabolism.Beta ThalassemiaA thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin.Beta-Thalassemia IntermediaA beta thalassemia that is characterized by mild to moderate anemia along with slow growth and bone abnormalities appearing in early childhood or later in life.Beta-Thalassemia MajorA beta thalassemia that is characterized by severe anemia and enlarged liver and spleen before 2 years of age.Bethlem MyopathyA congenital muscular dystrophy that is characterized by myopathy and joint contractures that progresses slowly.Bethlem Myopathy 1AA Bethlem myopathy that is caused by heterozygous mutation in the COL6A1 gene on chromosome 21q22.Bethlem Myopathy 1BA Bethlem myopathy that is caused by heterozygous, compound heterozygous, or homozygous mutation in the COL6A2 gene on chromosome 21q22.Bethlem Myopathy 1CA Bethlem myopathy that is caused by heterozygous, compound heterozygous, or homozygous mutation in the COL6A3 gene on chromosome 2q37.Bethlem Myopathy 2A Bethlem myopathy characterized by congenital hypotonia, myopathy and delayed motor development with eventual ambulation that is caused by heterozygous mutation in the COL12A1 gene on chromosome 6q.Beukes Hip DysplasiaAn osteochondrodysplasia that is characterized by bilateral dysmorphism of the proximal femur resulting in severe progressive degenerative osteoarthritis of the hip joint in early adulthood that is caused by heterozygous BH4-Deficient Hyperphenylalaninemia aA tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that is BH4-Deficient Hyperphenylalaninemia BA tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that is BH4-Deficient Hyperphenylalaninemia CA tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits and that BH4-Deficient Hyperphenylalaninemia DA tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by mild transient hyperphenylalaninemia often detected by newborn screening and that is caused by homozygous or compound heterozygous muta Bicuspid Aortic Valve DiseaseAn aortic valve disease that is characterized by the presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives.Bietti Crystalline Corneoretinal DystrophyA retinal degeneration that is characterized by crystals in the cornea, shiny deposits on the retina and progressive atrophy of the retina, choriocapillaris and choroid, is caused by autosomal recessive inheritance of ho Bilateral Breast CancerA breast carcinoma that is characterized by an individual having breast cancer in both breasts, either simultaneously or at different times.Bilateral Frontal PolymicrogyriaA polymicrogyria that is characterized as a symmetric and bilateral form (in both brain hemispheres) that only involves the frontal lobes without including the area located behind the Sylvius fissure or the area located Bilateral Generalized PolymicrogyriaA polymicrogyria that is characterized severe intellectual disability, problems with movement, and seizures and that affects the entire brain.Bilateral Optic Nerve HypoplasiaAn optic nerve disease characterized by isolated optic nerve hypoplasia or aplasia that is caused by heterozygous mutation in the PAX6 gene on chromosome 11p13.Bilateral Parasagittal Parieto-Occipital PolymicrogyriaA polymicrogyria that is characterized by bilateral malformation of cortical development, centered around the parasagittal and mesial aspects of the parietooccipital cortex and that is caused by homozygous mutation in th Bilateral Renal AplasiaA renal agenesis that is characterized by the absence of both kidneys at birth.Bilateral RetinoblastomaA retinoblastoma that develops in both eyes.Bile Duct AdenocarcinomaA bile duct carcinoma that arises from epithelial cells of glandular origin.Bile Duct AdenomaA biliary tract benign neoplasm that causes a small firm white nodule with multiple bile ducts that are in a fibrous stroma.Bile Duct CancerA biliary tract cancer that is in the bile duct.Bile Duct CarcinomaA bile duct cancer that is caused by abnormally proliferating cells arises from epithelial cells.Bile Duct Carcinoma in SituAn in situ carcinoma in the surface epithelium of the bile duct that most commonly develops into adenocarcinoma.Bile Duct Clear Cell AdenocarcinomaA clear cell adenocarcinoma that is in the bile duct.Bile Duct CystadenomaA biliary tract benign neoplasm that is in the bile duct and arises from epithelial cells.Bile Duct DiseaseA biliary tract disease in one or more bile ducts.Bile Duct Mucoepidermoid CarcinomaA mucoepidermoid carcinoma in a bile duct.Bile Duct RhabdomyosarcomaA rhabdomyosarcoma and sarcoma of bile duct that is in the bile duct.Bile Duct SarcomaA sarcoma and malignant tumor of extrahepatic bile duct that is in the bile duct.Bile RefluxA biliary tract disease characterized by the flow of bile up into the stomach and/or esophagus.Biliary AtresiaA cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder.Biliary DyskinesiaA gallbladder disease characterized by altered tonus of the sphincter of Oddi, disturbance in the coordination of contraction of the biliary ducts, and/or reduction in the speed of emptying of the biliary tree.Biliary ObstructionA bile duct disease characterized by an impairment of bile flow from the liver to the small intestine due to blockage of the biliary duct system.Biliary PapillomatosisA biliary tract benign neoplasm characterized by multiple papillary tumors in the intrahepatic and/or extrahepatic biliary tree.Biliary Tract Benign NeoplasmA hepatobiliary benign neoplasm in the biliary tract.Biliary Tract CancerA hepatobiliary system cancer that causes malignant growth in the gallbladder or in the bile duct.Biliary Tract DiseaseA hepatobiliary disease that is in the biliary tract.Bilirubin Metabolic DisorderAn inherited metabolic disorder that involves elevated levels of bilirubin resulting from disruption of bilirubin metabolism.Billuart-Type X-Linked Syndromic Intellectual Developmental DisorderA syndromic X-linked intellectual disability characterized by moderately to severely impaired intellectual development, cerebellar hypoplasia, and seizures that is caused by mutation in the oligophrenin-1 gene on chromos Binge Eating DisorderRecurring episodes of eating large amounts of food.Biotin DeficiencyA nutritional deficiency disease that is characterized by thinning of the hair (often with loss of hair color), and red scaly rash around the eyes, nose, and mouth.Biotinidase DeficiencyA multiple carboxylase deficiency that involves a deficiency in biotinidase as the body is not able to use biotin and results in biotin deficiency, and is caused by homozygous or compound heterozygous mutation in the BTD Biotin-Responsive Basal Ganglia DiseaseA basal ganglia disease that is characterized by recurrent subacute encephalopathy, causes confusion, causes seizure, causes ataxia, causes dystonia, causes supranuclear facial palsy, causes external ophthalmoplegia, and Bipolar DisorderExtreme mood swings between high (mania) and low (depression). Tracking your symptoms and connecting with others who understand can help you manage day to day.Bipolar I DisorderA bipolar disorder that is characterized by at least one manic or mixed episode.Bipolar Ll DisorderA 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.Bird Fancier'S LungAn extrinsic allergic alveolitis which is caused by inhalation of antigens from avian excreta. The disease causes abrupt onset of dyspnea, causes cough, causes malaise, and causes fever, after exposure to antigen.Birdshot ChorioretinopathyA posterior uveitis characterized by multiple small, hypopigmented, cream-colored choroidal lesions scattered symmetrically in the fundus primarily around the optic disc that presents in patients as blurred vision, float Birk-Barel SyndromeA syndrome that is characterized by intellectual disability, hypotonia, hyperactivity and facies, is caused by heterozygous mutation in the KCNK9 gene on chromosome 8q24.Birt-Hogg-Dube SyndromeA skin disease that is characterized by hair follicle hamartomas, kidney tumors, and spontaneous pneumothorax, is caused by heterozygous mutation in the gene encoding folliculin (FLCN) on chromosome 17p11.Bizarre LeiomyomaA leiomyoma that is characterized by large, atypical nuclei in otherwise normal appearing leiomyoma and rare or absent mitotic figures.Bjornstad SyndromeA syndrome that is characterized by early onset of hearing loss and hair loss due to pili torti, is caused by homozygous or compound heterozygous mutation in the BCS1L gene on chromosome 2q35.Black PiedraA superficial mycosis that is a superficial fungal infection of the hair shaft caused by Piedraia hortae, an ascomycetous fungus forming hard black nodules on the shafts of the scalp, beard, moustache and pubic hair.Blackwater FeverA malaria that presents as a rare febrile complication of repeated malarial attacks characterized by intravascular haemolysis, haemoglobinuria and kidney failure, resulting from destruction of red blood cells caused by h Bladder AdenocarcinomaA bladder carcinoma that arises from epithelial cells of glandular origin.Bladder Benign NeoplasmA urinary system benign neoplasm in the bladder including papillomas, leiomyomas, fibromas, hemangiomas, neurofibromas and lipomas.Bladder CancerCancer that starts in the bladder. Tracking your symptoms and connecting with others who understand can help you manage day to day.Bladder CarcinomaA urinary bladder cancer that is caused by abnormally proliferating cells arises from epithelial cells.Bladder Carcinoma in SituAn in situ carcinoma that is in the bladder.Bladder Clear Cell AdenocarcinomaA clear cell adenocarcinoma that is in the bladder.Bladder DiseaseA urinary system disease that is in the bladder.Bladder DiverticulumA bladder disease characterized by protrusion of the bladder urothelium and mucosa via muscle fibers of the bladder wall which results in one or more thin-walled structures connected to the bladder lumen.Bladder ExstrophyA 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 bla Bladder Exstrophy-Epispadias-Cloacal Exstrophy ComplexA physical disorder that is characterized as a spectrum of anomalies involving the urinary tract, genital tract, musculoskeletal system and sometimes the intestinal tract.Bladder Fermentation SyndromeAn acquired metabolic disease that is characterized by ethanol fermentation in the bladder and the absence of alcoholic intoxication.Bladder InfectionA urinary tract infection affecting the bladder.Bladder LeiomyomaA bladder benign neoplasm that arises from smooth muscle cells.Bladder SarcomaA sarcoma and malignant neoplasm of urinary bladder that is in the bladder.Bladder Sarcomatoid Transitional Cell CarcinomaA sarcomatoid transitional cell carcinoma that is in the bladder.Bladder Small Cell CarcinomaA bladder carcinoma that is characterized as an undifferentiated neoplasm composed of primitive-appearing cells.Bladder Squamous Cell CarcinomaA carcinoma of bladder that is manifested in squamous cells of the bladder.Bladder TuberculosisAn urogenital tuberculosis that is in urinary bladder, which results in fibrosis of bladder wall muscles.Bladder Urothelial CarcinomaA bladder carcinoma that is caused by transitional cells in the lining of the bladder.Blastic Plasmacytoid Dendritic Cell NeoplasmAn acute leukemia that is derived from the precursors of plasmacytoid dendritic cells, with a high frequency of cutaneous and bone marrow involvement and leukemic dissemination. Skin lesions appearing on the arms, legs,BlastomaA cell type cancer that is caused by abnormally proliferating cells arises from precursor cells called blast cells.BlastomycosisA primary systemic mycosis that causes a systemic fungal infection, is caused by Blastomyces dermatitidis, transmitted by airborne spores and causes skin lesions, causes lung lesions and causes pleural thickening.Blau SyndromeA syndrome characterized by familial granulomatous arthritis, uveitis and skin granulomas. It is caused by heterozygous mutations in the NOD2 gene.BlepharitisInflammation of the eyelids.BlepharochalasisAn eyelid disease that is characterized by exacerbations and remissions of eyelid edema, which results in a stretching and subsequent atrophy of the eyelid tissue, leading to the formation of redundant folds over the lid Blepharocheilodontic SyndromeA syndrome that is characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth.Blepharocheilodontic Syndrome 1A blepharocheilodontic syndrome that is caused by heterozygous mutation in the CDH1 gene on chromosome 16q22.Blepharocheilodontic Syndrome 2A blepharocheilodontic syndrome that is caused by heterozygous mutation in the CTNND1 gene on chromosome 11q12.BlepharoconjunctivitisA blepharitis that is characterized by the dual combination of conjunctivitis with blepharitis.BlepharophimosisAn eyelid disease that is characterized by abnormal narrowness of the palpebral fissure in the horizontal direction caused by the lateral displacement of the medial canthi of the eyelids.Blepharophimosis-Impaired Intellectual Development SyndromeA syndrome that is characterized by a distinct facial appearance with blepharophimosis and global development delay and that is caused by heterozygous mutation in the SMARCA2 gene on chromosome 9p24.Blepharophimosis, Ptosis, and Epicanthus Inversus SyndromeA syndrome characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus with (type I) or without (premature ovarian failure) that is caused by heterozygous or rarely homozygous mutation in the FOXL2 ge BlepharospasmA focal dystonia that is characterized by the involuntary, forcible contraction of the muscles controlling eye blinks.Blind Loop SyndromeAn intestinal disease characterized by a dysbalance of the bacterial flora of the small intestine, causing derangement to the normal physiological processes of digestion and absorption.BlindnessAn eye disease characterized by a lack or loss of vision.Blood Clotting DisordersConditions that make blood clot too much or too little.Blood Coagulation DiseaseA hematopoietic system disease that is characterized by abnormal blood clotting or bleeding.Blood Platelet DiseaseA blood coagulation disease that is characterized by an abnormal increase or decrease in platelets or platelet dysfunction.Bloom SyndromeA syndrome characterized by sun sensitivity, short stature, predisposition to the development of cancer and genomic instability.Blount'S DiseaseAn osteochondrodysplasia that causes inward turning of lower leg, in tibia, which fails to develop normally.Blue Color BlindnessA color blindness that is characterized by a selective deficiency of blue vision, is caused by autosomal dominant inheritance of a mutation in the OPN1SW gene and is associated with a deficiency or absence of blue-sensit Blue Cone MonochromacyAn achromatopsia that is characterized by severely impaired color discrimination, low visual acuity, nystagmus, photophobia due to the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones Blue Drum SyndromeA acute transudative otitis media involving thick, viscid and mucuslike fluid effusion due to which the drum appears blue in color.B-Lymphoblastic Leukemia/LymphomaA B-cell acute lymphoblastic leukemia that is characterized by the presence of too many B-cell lymphoblasts in the blood and bone marrow.B-Lymphoblastic Leukemia/Lymphoma, BCR-ABL1–likeA B-lymphoblastic leukemia/lymphoma that has a gene expression profile similar to that of B-ALL with t(9;22)(q34.1;q11.2) BCR-ABL1, but lacks that gene fusion.B-Lymphoblastic Leukemia/Lymphoma MLL RearrangedA B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the KMT2A gene at 11q23.3 and another gene partner resulting in the production of a KMT2A relat B-Lymphoblastic Leukemia/Lymphoma with BCR-ABL1A B-lymphoblastic leukemia/lymphoma that arises from B-lymphoblasts and carries a translocation between the BCR gene on chromosome 22 and the ABL1 gene on chromosome 9. It results in the production of the p190 kd or p210 B-Lymphoblastic Leukemia/Lymphoma with ETV6-RUNX1A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the TEL gene on chromosome 12 and the AML1 gene on chromosome 21, (p13.2;q22.1). It results in B-Lymphoblastic Leukemia/Lymphoma with HyperdiploidyA B-lymphoblastic leukemia/lymphoma that is composed of B-lymphoblasts which contain more than 50 and usually less than 66 chromosomes.B-Lymphoblastic Leukemia/Lymphoma with HypodiploidyA B-lymphoblastic leukemia/lymphoma that is composed of B-lymphoblasts which contain less than 46 chromosomes.B-Lymphoblastic Leukemia/Lymphoma with IAMP21A B-lymphoblastic leukemia/lymphoma that is characterized by amplification of a portion of chromosome 21.B-Lymphoblastic Leukemia/Lymphoma with IGH::IL3 FusionA B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the IL3 gene on chromosome 5 and the IGH locus on chromosome 14, (q31.1;q32.3).B-Lymphoblastic Leukemia/Lymphoma with TCF3-PBX1A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the E2A gene on chromosome 19 and the PBX1 gene on chromosome 1.B-Lymphoblastic Leukemia with DUX4 RearrangementA B lymphoblastic leukemia/lymphoma that is associated with DUX4 gene rearrangement.B-Lymphoblastic Leukemia with MEF2D RearrangementA B-lymphoblastic leukemia/lymphoma associated with MEF2D gene rearrangement.B-Lymphoblastic Leukemia with MYC RearrangementA B-lymphoblastic leukemia/lymphoma associated with MYC gene rearrangement.B-Lymphoblastic Leukemia with NUTM1 RearrangementA B-lymphoblastic leukemia/lymphoma associated with NUTM1 gene rearrangement.B-Lymphoblastic Leukemia with PAX5altA B-lymphoblastic leukemia/lymphoma associated with PAX5 gene alteration, including rearrangements, point mutations, and intragenic lesions.B-Lymphoblastic Leukemia with PAX5 P.P80RA B-lymphoblastic leukemia/lymphoma that is associated with PAX5 P80R mutation.B-Lymphoblastic Leukemia with TCF3-HLF FusionA B-lymphoblastic leukemia/lymphoma associated with TCF3-HLF gene rearrangement.B-Lymphoblastic Leukemia with ZNF384 RearrangementA B-lymphoblastic leukemia/lymphoma associated with ZNF384 gene rearrangement.BN2 Diffuse Large B-Cell LymphomaA diffuse large B-cell lymphoma that is categorized as BN2 with high probability by the LymphGen algorithm. This is based on a combination of genetic features and BN2 DLBCLs often, but do not always, have a translocation Body Dysmorphic DisorderA somatoform disorder that involves an excessive concern about and preoccupation with a perceived defect in his or her physical features (body image).BoilsPainful, pus-filled lumps under the skin from infected follicles.Bolivian Hemorrhagic FeverA viral infectious disease that is a hemorrhagic fever, is caused by Machupo virus (Mammarenavirus machupoense), which is transmitted by vesper mouse, Calomys callosus. The infection causes fever, causes headache, causes Bone AmeloblastomaA bone benign neoplasm that is caused by odontogenic epithelium and is in bone.Bone Benign NeoplasmA connective tissue benign neoplasm that is in bone.Bone CancerCancer that starts in the bone.Bone CarcinomaA bone cancer that is caused by abnormally proliferating cells arises from epithelial cells.Bone ChondrosarcomaA chondrosarcoma that is in bone.Bone Deterioration DiseaseA bone structure disease that causes change or damage of structure in bone.Bone Development DiseaseA bone disease that causes abnormal growth and development in bone or in cartilage.Bone Giant Cell SarcomaA malignant giant cell tumor that is composed of multinucleated giant cells.Bone Giant Cell TumorA benign giant cell tumor that causes the presence of multinucleated giant cells.Bone Inflammation DiseaseA bone disease that causes inflammation of the in bone.Bone LymphomaA bone cancer and lymphoma by site that causes lymphoma starting in the bone.Bone Marrow CancerA hematopoietic cancer that arises from the blood-forming stem cells of the bone marrow.Bone Marrow DiseaseA hematopoietic system disease that is in the bone marrow.Bone OsteosarcomaAn osteosarcoma that is an usually aggressive malignant bone-forming mesenchymal neoplasm arising from the bone. It may arise de novo or from a pre-existing lesion of the bone. Pain and a palpable mass are the most frequ Bone Remodeling DiseaseA bone disease that causes formation or resorption abnormalities in bone.Bone Resorption DiseaseA bone remodeling disease that results in an abnormal decrease of bone density or mass.Bone SarcomaA bone cancer that is caused by abnormally proliferating cells derives from embryonic mesoderm.Bone Squamous Cell CarcinomaA bone carcinoma that arises from squamous epithelial cells.Bone Structure DiseaseA bone disease that is caused by an abnormality in the location or function of the skeletal structure.Boomerang DysplasiaAn osteochondrodysplasia that is characterized by severe dwarfism, dislocated joints, club feet, distinctive facies and dysplastic tubular bones with boomerang-like bowing, is caused by heterozygous mutation in the FLNB Borderline GlaucomaA glaucoma characterized by clinical features and risk factors that are associated with high likelihood to developing optic atrophy secondary to glaucoma in the future. These features may include elevated intraocular pre Borderline LeprosyA leprosy that results in small numerous red irregularly shaped plaques.Borderline Personality DisorderA condition marked by intense emotions and unstable relationships. Tracking your symptoms and connecting with others who understand can help you manage day to day.Bordetella Parapertussis Whooping CoughA pertussis that is a milder disease caused by the bacterium Bordetella parapertussis. The disease causes coughing, causes sneezing, or causes runny nose.Borjeson-Forssman-Lehmann SyndromeAn X-linked disease that is characterized by intellectual disability, truncal obesity, seizures, hypogonadism, developmental delay, distinctive facial features, tapered fingers and short toes and is caused by X-linked re Borna DiseaseA viral infectious disease that causes infection, which affects dopaminergic neurotransmission in central nervous system, is caused by Borna disease virus (Orthobornavirus bornaense), which is transmitted by contact with Borrelia Miyamotoi DiseaseA primary bacterial infectious disease that is caused by Borrelia miyamotoi, which is transmitted by the blacklegged tick (Ixodes scapularis), the western blacklegged tick (Ixodes pacificus), the taiga tick (Ixodes persu Bosch-Boonstra-Schaaf Optic Atrophy SyndromeA syndrome characterized by delayed development, moderate intellectual disability, and optic atrophy that is caused by heterozygous mutation in the NR2F1 gene on chromosome 5q15.Bothnian Type Palmoplantar KeratodermaA 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 is caused b Bothnia Retinal DystrophyA fundus dystrophy that is characterized by early onset of night blindness and decreased visual acuity that progresses to blindness in early adulthood, is caused by mutation in RLBP1 gene.BotulismA primary bacterial infectious disease that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) located in neuromuscular junction resulting in descending muscle paralysis, is caused by Clostridium b Boucher-Neuhauser SyndromeA syndrome characterized by spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy that is caused by homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2.Boutonneuse FeverA spotted fever that is caused by Rickettsia conorii subsp conorii, which is transmitted by dog tick (Rhipicephalus sanguineus). The infection causes fever, causes eschar (usually single), causes regional adenopathy, cau Bowen-Conradi SyndromeA syndrome that is characterized by growth delays, failure to thrive and malformations of the head and face that results in infantile death, is caused by homozygous mutation in the EMG1 gene on chromosome 12p13.Brachial Plexus LesionA brachial plexus neuropathy characterized by an abnormality, usually caused by disease or trauma, located in the brachial plexus.Brachial Plexus NeuritisA brachial plexus neuropathy that affects the chest, shoulder, arm and hand.Brachial Plexus NeuropathyA peripheral nervous system disease that is characterized by damage to nerves in the upper shoulder of the brachial plexus, an area where nerves from the spinal cord branch into the arm nerves.Brachycephaly, Trichomegaly, and Developmental DelayA syndrome characterized by brachycephaly, trichomegaly, and developmental delay, without anemia, that is caused by heterozygous mutation in the RPS23 gene on chromosome 5q14.BrachydactylyA dysostosis characterized by short fingers and toes.Brachydactyly-Preaxial Hallux Varus SyndromeA brachydactyly characterized by autosomal dominant inheritance of short thumbs and first toes with abduction of these digits, the shortening involves the metacarpals, metatarsals, and distal phalanges.Brachydactyly-Syndactyly SyndromeA syndrome that is characterized by brachydactyly and syndactyly, is caused by heterozygous mutation in the HOXD13 gene on chromosome 2q31.Brachydactyly Type A1A brachydactyly characterized by rudimentary or fused middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes.Brachydactyly Type A1BA brachydactyly type A1 characterized by shortened middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes but normal stature that is caused by variation in the chromosome region 5p Brachydactyly Type A1CA brachydactyly type A1 is caused by homozygous or heterozygous mutation in the GDF5 gene on chromosome 20q11.Brachydactyly Type A1DA brachydactyly type A1 that is caused by heterozygous mutation in the BMPR1B gene on chromosome 4q22.Brachydactyly Type A2A brachydactyly characterized by autosomal dominant inheritance of malformations of the middle phalanx of the index finger and anomalies of the second toe that is caused by heterozygous mutation in the BMPR1B gene on chr Brachydactyly Type A3A brachydactyly characterized by shortening of the middle phalanx of the fifth finger resulting in radial curvature of the fifth finger.Brachydactyly Type A4A brachydactyly characterized by autosomal dominant inheritance of hypoplastic middle phalanges, brachymesophalangy affecting mainly the 2nd and 5th digits and congenital talipes calcaneovalgus.Brachydactyly Type A6A brachydactyly characterized by brachymesophalangy with mesomelic short limbs, absence or hypoplasia of second phalanges with synostosis of the remaining phalanges, and carpal and tarsal coalitions.Brachydactyly Type B1A brachydactyly characterized by short middle phalanges, rudimentary or absent terminal phalanges and nail aplasia that is caused by heterozygous mutation in the ROR2 gene on chromosome 9q22.Brachydactyly Type B2A brachydactyly characterized by hypoplasia/aplasia of distal phalanges, distal symphalangism, fusion of carpal/tarsal bones, and partial cutaneous syndactyly that is caused by mutations in the NOG gene on chromosome 17q Brachydactyly Type CA brachydactyly characterized by rachymesophalangy of the index, middle and little fingers, hyperphalangy of the index and middle finger, and shortening of the 1st metacarpal that is caused by heterozygous mutation in th Brachydactyly Type DA brachydactyly characterized by short and broad terminal phalanges of the thumbs and big toes that is caused by mutation in the HOXD13 gene on chromosome 2q31.1.Brachydactyly Type E1A brachydactyly characterized by shortening of the fingers, mainly in the metacarpals and metatarsals, that is caused by heterozygous mutation in the HOXD13 gene on chromosome 2q31.Brachydactyly Type E2A characterized byautosomal dominant inheritance of short stature, tooth abnormalities, and short metacarpals and metatarsals that is caused by heterozygous mutation in the PTHLH gene on chromosome 12p.BrachyolmiaAn osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature.Brachyolmia-Amelogenesis Imperfecta SyndromeA syndrome characterized by skeletal dysplasia (broad ilia, elongated femoral necks with coxa valga, scoliosis), mild platyspondyly, short trunked short stature, and amelogenesis imperfecta that is caused by autosomal re BradycardiaAn unusually slow heart rate.BradyopsiaA retinal disease characterized by the slower than usual adaptation of the eyes to changing light conditions.Bradyopsia 1A braydopsia that is caused by homozygous or compound heterozygous mutation in the RGS9 gene on chromosome 17q24.Bradyopsia 2A braydopsia that is caused by homozygous mutation in the RGS9BP gene on chromosome 19q13.Brain AneurysmA weak, bulging spot in a brain blood vessel that can rupture.Brain CancerCancer that starts in the brain.Brain CompressionA brain disease that is characterized by pressure on the intracranial tissues by an effusion of blood or cerebrospinal fluid, an abscess, a neoplasm, a depressed fracture of the skull, or edema of the brain.Brain DiseaseA central nervous system disease that is in the brain.Brain EdemaA brain disease that is characterized by excess accumulation of fluid in the intracellular and/or extracellular spaces of the brain, causes nausea, causes vomiting, causes blurred vision, causes seizure, causes coma.Brain EpendymomaA brain glioma that is characterized by tumor of the ependyma, is caused by abnormally proliferating cells arises from ependymal cells, in spine in adults and in intracranial (4th ventricle) in children.Brain GerminomaA brain cancer that is characterized by abnormally proliferating cells, arises from germ cells.Brain Glioblastoma MultiformeA brain glioma that is caused by abnormally proliferating cells arises from glial cells, causes seizure, headaches, nausea and vomiting, memory loss, changes to personality, mood or concentration; and localized neurologi Brain GliomaA brain cancer that is caused by glial cells.Brain InfarctionA cerebrovascular disease that is characterized by tissue necrosis in the brain, resulting from inadequate blood flow through the brain.Brain IschemiaAn ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.Brain MeningiomaA brain cancer that is characterized by tumor of the meninges, that develops from the membranes that surround the brain and spinal cord, is caused by abnormally proliferating cells arises from meningeal cells of embryoni Brain OligodendrogliomaA brain glioma that is caused by oligodendrocytes.Brain SarcomaA brain cancer that is characterized by abnormally proliferating cells, arises from embryonic mesoderm.Brain Small Vessel DiseaseA brain disease characterized by abnormalities in the small blood vessels in the brain.Brain Small Vessel Disease 1A brain small vessel disease that is characterized by fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases Axenfeld-Riegar anomaly that is caused Brain Small Vessel Disease 3A brain small vessel disease characterized by impaired basement membrane morphology resulting in increased fragility of cerebral blood vessels and an increased risk of intracranial bleeds of variable severity that is cau Brain Small Vessel Disease 4A brain small vessel disease characterized by schemic and/or hemorrhagic events in the brain that result in neurologic symptoms and deficits, progressive movement disorders, gait abnormalities, dysarthria, and cognitive Brain Small Vessel Disease 5 with OsteoporosisA brain small vessel disease characterized by onset of neurologic symptoms in adulthood. Features include cognitive decline, psychiatric disturbances, osteoporosis with frequent fractures, and cerebral infarctions associ Brain Small Vessel Disease 6 with LeukoencephalopathyA brain small vessel disease characterized by central nervous system manifestations, including migraine, stroke, transient movement disorders, gait disturbance, and progressive cognitive decline that is caused by heteroz Brain Stem AngioblastomaA brain stem cancer that is characterized by slow growing, highly vascular tumors that develops from the vascular system, is caused by abnormally proliferating cells arises from endothelial cells, pericytes and stromal c Brain Stem Astrocytic NeoplasmA brain stem glioma that is characterized by mass lesion of the brainstem, associated cranial nerve nuclei and long tracts, is caused by abnormally proliferating cells arises from astrocytes.Brain Stem EpendymomaA high grade ependymoma that is characterized by abnormal growth of the neuroepithelial lining of the ventricular system, is caused by abnormally proliferating cells arises from ependymal cells.Brain Stem GliomaA brain stem cancer that is characterized by mass lesion of the brainstem, associated cranial nerve nuclei and long tracts, is caused by abnormally proliferating cells, arises from glial cells.Brain Stem InfarctionA brain infarction that is characterized by stroke of the brain stem that develops from blockage or narrowing in the arteries in the brainstem, is caused by damage to the cranial nerve nuclei and long tracts, causes vert Brain Stem MedulloblastomaA brain stem cancer that begins in the lower part of the brain on the floor of the skull.Brain TumorAn abnormal growth of cells in the brain. Tracking your symptoms and connecting with others who understand can help you manage day to day.Branched-Chain Keto Acid Dehydrogenase Kinase DeficiencyAn amino acid metabolic disorder that is characterized by autism, epilepsy, intellectual disability, and reduced levels of branched-chain amino acids that is caused by homozygous mutation in the branched chain keto acid Branchiooculofacial SyndromeA syndrome that is characterized by low birth weight and growth retardation, bilateral branchial clefts.Branchiootic SyndromeA 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.Branchiootic Syndrome 1A branchiootic syndrome that is caused by heterozygous mutation in the EYA1 gene on chromosome 8q13.Branchiootic Syndrome 3A branchiootic syndrome that is caused by heterozygous mutation in the SIX1 gene on chromosome 14q23.Branchiootorenal SyndromeA syndrome characterized by branchial arch anomalies (branchial fistulas, clefts, or cysts), hearing impairment, structural defects of the outer, middle, and inner ear, and renal abnormalities.Branchiootorenal Syndrome 1A branchiootorenal syndrome that is caused by heterozygous mutation in the EYA1 gene on chromosome 8q13.3.Branchiootorenal Syndrome 2A branchiootorenal syndrome that is caused by heterozygous mutation in the SIX5 gene on chromosome 19q13.32.Brawny ScleritisAn anterior scleritis that is characterized by painful inflammation and tender nodule formation of the anterior sclera and causes pain, red eyes, photophobia, tearing, blurry vision, and appearance of eye surface irregul Brazilian Hemorrhagic FeverA viral infectious disease that is a hemorrhagic fever, is caused by Sabia virus (Mammarenavirus brazilense), which is transmitted by rodents. The infection has symptom fever, has symptom eye redness, has symptom fatigue BRCA MutationInherited gene mutations that raise breast and ovarian cancer risk.Breast AbscessA breast disease characterized by a collection of pus in the breast.Breast AdenocarcinomaA breast carcinoma that originates in the milk ducts and/or lobules (glandular tissue) of the breast.Breast Adenoid Cystic CarcinomaA breast carcinoma that is characterized by the presence of a dual cell population of luminal and basaloid cells arranged in specific growth patterns.Breast AdenomaA breast benign neoplasm that is is caused by epithelial tissue in which tumor cells form glands or glandlike structures.Breast AdenomyoepitheliomaA breast myoepithelial neoplasm that affects the breast and is characterized by biphasic proliferation of both epithelial and myoepithelial cells.Breast AngiomatosisA breast disease that is characterized by diffuse vascularity surrounding ducts and lobules without invasion, large irregular vascular spaces and flat epithelium without atypia.Breast AngiosarcomaAn angiosarcoma and sarcoma of breast and vascular neoplasm of breast that is in the cells that line the blood vessels within the breast or underarm area.Breast Apocrine AdenomaA breast adenoma that is characterized by apocine differentiation.Breast Apocrine CarcinomaA breast adenocarcinoma that is characterized by abundant eosinophilic cytoplasm, large round nuclei and sharp cell borders.Breast Apocrine Carcinoma in SituA breast carcinoma in situ that is characterized by abundant eosinophilic apocrine cytoplasm and large nuclei. It is a variant of ductal carcinoma in situ of the breast.Breast Benign NeoplasmA thoracic benign neoplasm that is characterized by lack of malignancy.Breast CancerCancer that starts in the breast. Tracking your symptoms and connecting with others who understand can help you manage day to day.Breast Capillary HemangiomaA breast hemangioma that is characterized by capillary-sized vessels.Breast CarcinomaA breast cancer that is caused by abnormally proliferating cells arises from epithelial cells.Breast Carcinoma in SituAn in situ carcinoma that is in the breast.Breast Columnar Cell Mucinous CarcinomaA breast mucinous carcinoma that is characterized by tall columnar cells with basal, bland nuclei, intracytoplasmic and extracytoplasmic mucin and is grossly solid.Breast CystA breast benign neoplasm that is characterized by a fluid-filled sac.Breast Cystic Hypersecretory CarcinomaA breast secretory carcinoma that is characterized by numerous cysts of varying sizes containing gelatinous material on gross examination, microscopically dilated ducts containing eosinophilic secretion and the absence o Breast DiseaseA disease of anatomical entity that is in the breast.Breast Ductal AdenomaA breast adenoma that is characterized by a prominent fibrotic capsule and a bilayered tubular component.Breast Ductal CarcinomaA breast carcinoma that arises from the lining of milk ducts.Breast Duct PapillomaAn intraductal papillary breast neoplasm that is is caused by epithelial tissue on papillae of vascularized connective tissue.Breast Epithelioid HemangiomaA breast hemangioma that is characterized by islands and cords on hyalinized and myxoid ground substance as well as intracytoplasmic vacuoles that contain typical erythrocytes and are characterized by fusiform or round n Breast FibroadenomaA breast benign neoplasm comprised of fibrous and glandoular tissues in breast.Breast FibroadenosisA breast benign neoplasm that is caused by fibrous tissue and epithelial tissue in which tumor cells form glands or glandlike structures.Breast Fibrocystic DiseaseA breast benign neoplasm that is caused by fibrous tissue and is characterized by the development of cystic spaces.Breast FibrosarcomaA breast sarcoma that arises from fibrous connective tissue and is characterized by the presence of immature proliferating fibroblasts or undifferentiated anaplastic spindle cells in a storiform pattern.Breast Giant FibroadenomaA breast fibroadenoma that is larger than 5 cm.Breast Granular Cell TumorA breast cancer that is believed to arises from Schwann cells.Breast HemangiomaA breast benign neoplasm that is characterized by a collection of excess blood vessels.Breast HemangiopericytomaA hemangiopericytoma that is manifested in the breast.Breast Implant-Associated Anaplastic Large Cell LymphomaA peripheral T-cell lymphoma characterized by development around textured-surface breast implants confined to the capsule.Breast Implant IllnessA syndrome that is characterized by fatigue, problems with memory or concentration, joint and muscle pain, hair loss, weight changes and anxiety/depression.Breast Intracanalicular FibroadenomaA breast fibroadenoma that is characterized by stromal proliferation compressing the epithelial structures into clefts.Breast Intraductal PapillomatosisA benign breast neoplasm characterized by the presence of multiple intraductal papillomas.Breast Intraductal Proliferative LesionAn intraductal breast benign neoplasm that is characterized by an increase in the number of cells perpendicular to the basement membrane resulting in total alteration and distension of the normal unit structure of the br Breast Juvenile PapillomatosisA breast benign neoplasm that is characterized by a discrete, muticystic breast lesion that occurs at a median age of 20 years.Breast Large Cell Neuroendocrine CarcinomaA breast carcinoma that is characterized by large cell size, polygonal shape, low nuclear-cytoplasmic ratio, finely granular eosinophilic cytoplasm, occasionally prominent nucleoli, peripheral palisading, mitosis, and ne Breast LeiomyomaA breast benign neoplasm that is caused by smooth muscle cells.Breast LeiomyosarcomaA breast sarcoma that arises from smooth muscle cells.Breast Lipid-Rich CarcinomaA lipid-rich carcinoma characterized by the presence of cytoplasmic neutral lipids in the vast majority of the malignant cells.Breast LipomaA breast benign neoplasm that is composed of lipocytes.Breast LiposarcomaA breast sarcoma that arises from fat cells.Breast Lobular CarcinomaA breast carcinoma that arises from breast lobules (milk glands).Breast LymphomaA breast cancer that arises from lymphocytes.Breast Malignant Eccrine SpiradenomaA breast cancer that arises from cutaneous sweat glands and is characterized by a focus of benign spiradenoma within or adjacent to the malignant tumor, as evidenced by increased mitotic rate, necrosis, nuclear atypia, p Breast Malignant Phyllodes TumorA breast cancer that is characterized by a prominent infiltrative border, unequivocal sarcomatous areas, and stromal overgrowth and arises from the stroma, lined by an epithelial and myoepithelial bilayer, forming a leaf Breast Medullary CarcinomaA breast adenocarcinoma that is characterized by a syncitial growth pattern and high grade cytology.Breast Metaplastic CarcinomaA breast carcinoma that represents a mixed group of malignant neoplasms characterized by the histologic presence of two or more cellular types.Breast Mucinous CarcinomaA breast adenocarcinoma in which at least one half of the tumor volume is extracellular mucin throughout.Breast Mucinous CystadenocarcinomaA breast mucinous carcinoma that is characterized by both intracellular and extracellular mucin and cystic spaces are lined by tall columnar cells that contain profuse extracellular mucin.Breast Mucoepidermoid CarcinomaA breast metaplastic carcinoma that is characterized by the presence of four cell types (basaloid, intermediate, epidermoid, and mucinous) in varying proportions.Breast Myoepithelial CarcinomaA breast carcinome that is composed entirely or almost entirely of malignant spindle cells with myoepithelial differentiation.Breast Myoepithelial NeoplasmA breast cancer that arises from myoepithelial cells, which are a normal constituent of the salivary acini and ducts and are found between the epithelial cells and the basement membrane.Breast MyoepitheliosisA breast myoepithelial neoplasm that is characterized by multifocal, often microscopic proliferation of myoepithelial cells in or around small ducts.Breast MyofibroblastomaA breast benign neoplasm that arises from precursor mesenchymal cells with myofibroblastic differentiation.Breast Neuroendocrine NeoplasmA breast benign neoplasm that forms from cells that release hormones into the blood in response to a signal from the nervous system.Breast Oncocytic CarcinomaA breast adenocarcinoma that is characterized by abundant eosinophilic cytoplasm due to large numbers of mitochondria.Breast OsteosarcomaA breast sarcoma that arises from bone.Breast Papillary CarcinomaA breast carcinoma that is characterized by the presence of arborescent fibrovascular stalks lined by epithelial cells, grossly forming a circumscribed mass.Breast Pericanalicular FibroadenomaA breast fibroadenoma that is characterized by stromal proliferation around epithelial structures.Breast RhabdomyosarcomaA breast sarcoma that arises from skeletal muscle cells.Breast SarcomaA breast cancer that is caused by abnormally proliferating cells arises from mesenchymal cells.Breast Scirrhous CarcinomaA breast carcinoma that is characterized by the presence of hard, fibrous, particularly invasive tumors in which the malignant cells occur singly or in small clusters or strands in dense connective tissue.Breast Secretory CarcinomaA breast adenocarcinoma that is caused by cells with abundant granular or clear vacuolated cytoplasm.Breast Signet Ring Cell AdenocarcinomaA breast adenocarcinoma that is characterized by the presence of numerous cells containing intracellular mucin, without large amounts of extracellular mucins.Breast Squamous Cell CarcinomaA breast metaplastic carcinoma that arises from squamous epithelial cells.Breast Tubular CarcinomaA breast adenocarcinoma that is characterized as a well-differentiated invasive carcinoma with regular cells arranged in well-defined tubules (typically one layer thick) surrounded by an abundant fibrohyaline stroma.Brill-Zinsser DiseaseAn 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.Brittle Cornea Syndrome 1An Ehlers-Danlos syndrome that is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints and is caused by homozygous m Brittle Cornea Syndrome 2An Ehlers-Danlos syndrome that is caused by homozygous mutation in the PRDM5 gene on chromosome 4q27.Broad Ligament Malignant NeoplasmA uterine adnexa cancer that is in the broad ligament.Brody MyopathyA neuromuscular disease is characterized by difficulty relaxing muscles and muscle stiffness following exercise or other strenuous activity and is located in skeletal muscles.Bronchial DiseaseA lower respiratory tract disease that affects the airways leading into the lungs, which is caused due to inflammation of the bronchi and bronchioles, infection, or blockage.BronchiectasisDamaged airways that widen and collect mucus. Tracking your symptoms and connecting with others who understand can help you manage day to day.Bronchiectasis 1A bronchiectasis that is caused by mutation in the gene encoding the beta subunit of the epithelial sodium channel on chromosome 16p12.Bronchiectasis 2A bronchiectasis that is caused by mutation in the gene encoding the alpha subunit of the epithelial sodium channel.Bronchiectasis 3A bronchiectasis that is caused by mutation in the gene encoding the gamma subunit of the epithelial sodium channel.BronchiolitisA lung disease that is an inflammation of the bronchioles, the smallest air passages of the lungs. It is caused by viruses and bacteria. The disease causes cough, causes wheezing, causes shortness of breath, causes fever Bronchiolitis ObliteransA obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults.Bronchiolo-Alveolar AdenocarcinomaA lung adenocarcinoma characterized by a predominantly lepidic pattern and 5 mm or less invasion in greatest dimension.BronchitisInflammation of the bronchial tubes, often with a persistent cough.BronchopneumoniaA pneumonia involving inflammation of lungs that begins in the terminal bronchioles, which become clogged with thick mucus that forms consolidated patches in adjacent lobules. It is caused by bacteria and viruses.Bronchopulmonary DysplasiaA lung disease that is characterized by underdeveloped lungs in newborns that can be easily irritated or inflamed after birth resulting in damage to the alveoli of the lungs and bronchi. Most newborns who develop BPD are Bronchus CancerA respiratory system cancer that is in the bronchus.Bronchus CarcinomaA bronchus cancer that is caused by epithelial cells.Bronchus Carcinoma in SituAn in situ carcinoma in the bronchus that most commonly develops into adenocarcinoma.Bronchus Mucoepidermoid CarcinomaA mucoepidermoid carcinoma in the bronchus.Brooke-Spiegler SyndromeA skin disease that is characterized by the development of several types of tumors from the skin, is caused by heterozygous mutation in the CYLD gene on chromosome 16q12.Brown Shrimp AllergyA crustacean allergy triggered by Farfantepenaeus aztecus.Brown'S Tendon Sheath SyndromeA mechanical strabismus that is characterized by impairment of eye movements.Brown-Vialetto-Van Laere SyndromeA 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.Brown-Vialetto-Van Laere Syndrome 1A Brown-Vialetto-Van Laere syndrome that is characterized by progressive bulbar palsy with sensorineural deafness that is caused by homozygous or compound heterozygous mutation in the C20ORF54 gene (SLC52A3) on chromosom Brown-Vialetto-Van Laere Syndrome 2A Brown-Vialetto-Van Laere syndrome that is characterized by early childhood onset of sensorineural deafness, bulbar dysfunction, and severe diffuse muscle weakness and wasting of the upper and lower limbs and axial musc Brucella Abortus BrucellosisA brucellosis that involves an infection caused by Brucella abortus in cattle and humans. The disease causes fever, causes chills, causes sweats, causes weight loss, causes malaise, causes headaches, causes myalgia, and Brucella Canis BrucellosisA brucellosis involving an infection caused by Brucella canis in dogs and humans. The disease causes fever, causes sweats, causes weakness, causes weight loss, causes headache, causes lymphadenopathy and causes splenomeg Brucella Melitensis BrucellosisA brucellosis that involves an infection caused by Brucella melitensis in cattle, goats, sheep and humans. The disease causes fever, causes malaise, causes anorexia, causes limb pain and causes back pain.Brucella Suis BrucellosisA brucellosis that involves an infection caused by Brucella suis in swine and humans. The disease causes fever, causes chills, causes malaise, causes diaphoresis, causes arthralgia, causes myalgia, causes headache, cause BrucellosisA bacterial infection from animals or unpasteurized dairy.Bruck SyndromeA syndrome characterized by a combination of multiple joint contractures and osteogenesis imperfecta.Brugada SyndromeA genetic condition causing dangerous heart rhythms.Brugada Syndrome 1A Brugada syndrome that is caused by heterozygous mutation in the SCN5A gene on chromosome 3p22.Brugada Syndrome 2A Brugada syndrome that is caused by heterozygous mutation in the GPD1L gene on chromosome 3p22.Brugada Syndrome 3A Brugada syndrome that is caused by heterozygous mutation in the gene encoding the alpha-1C subunit of the L-type voltage-dependent calcium channel (CACNA1C) on chromosome 12p13.Brugada Syndrome 4A Brugada syndrome that is caused by heterozygous mutation in the gene encoding the beta-2 subunit of the voltage-dependent L-type calcium channel (CACNB2) on chromosome 10p12.Brugada Syndrome 5A Brugada syndrome that is caused by heterozygous mutation in the SCN1B gene on chromosome 19q13.Brugada Syndrome 6A Brugada syndrome that is caused by heterozygous mutation in the KCNE3 gene on chromosome 11q13.Brugada Syndrome 7A Brugada syndrome that is caused by heterozygous mutation in the SCN3B gene on chromosome 11q24.Brugada Syndrome 8A Brugada syndrome that is caused by heterozygous mutation in the HCN4 gene on chromosome 15q24.Brugada Syndrome 9A Brugada syndrome that is caused by heterozygous mutation in the KCND3 gene on chromosome 1p13.Brunet-Wagner Neurodevelopmental SyndromeAn autosomal recessive intellectual developmental disorder characterized by infantile hypotonia and severely impaired development affecting both motor and cognitive skills that is caused by homozygous or compound heteroz Brunner SyndromeAn amino acid metabolic disorder characterized by recessive X-linked inheritance, impaired monoamine metabolism, impulsive aggressiveness and mild mental retardation that is caused by mutation in the MAOA gene on chromos BruxismTeeth grinding or clenching, often during sleep.Bryant-Li-Bhoj Neurodevelopmental SyndromeAn autosomal dominant intellectual developmental disorder that is characterized by developmental delay / intellectual disability (typically in the severe range) and nonspecific craniofacial abnormalities.Bryant-Li-Bhoj Neurodevelopmental Syndrome 1A Bryant-Li-Bhoj neurodevelopmental syndrome that is characterized predominantly by moderate to severe global developmental delay with impaired intellectual development, poor or absent speech, and delayed motor milestone Bryant-Li-Bhoj Neurodevelopmental Syndrome 2A Bryant-Li-Bhoj neurodevelopmental syndrome that is characterized predominantly by moderate to severe global developmental delay with impaired intellectual development, poor or absent speech, and delayed motor milestone Bubonic PlagueA plague that causes infection in lymph node producing a bubo, which is an inflamed, necrotic, and hemorrhagic lymphoid tissue. The infection causes enlarged, tender lymph nodes, causes fever, causes chills and causes pr Budd-Chiari SyndromeA hepatic vascular disease that is characterized by a spectrum of disease states, including anatomic abnormalities and hypercoagulable disorders, resulting in hepatic venous outflow occlusion.Bulbar PolioA paralytic poliomyelitis that results in destruction located in motor neurons of brainstem, is caused by Human poliovirus 1, is caused by Human poliovirus 2, or is caused by Human poliovirus 3, which are transmitted by Bulbomembranous Urethral CancerA male urethral cancer that arises from the bulbomembranous part of the urethra.Bulbospinal PolioA paralytic poliomyelitis that results in destruction located in motor neurons of brainstem or located in motor neurons of spinal cord, is caused by Human poliovirus 1, is caused by Human poliovirus 2, or is caused by Hu Bulimia NervosaBinge eating followed by purging.Bullous Congenital Ichthyosiform ErythrodermaAn ichthyosis characterized by congenital erythema and widespread skin blistering, blisters develop into gray hyperkeratoses with a lichenified appearance, and that is caused by heterozygous mutation in the KRT2 gene on Bullous PemphigoidAn autoimmune disease causing large, fluid-filled blisters.Bullous Skin DiseaseA dermatitis that is characterized by blisters filled with a watery fluid, in skin. The disease is associated with the amount of gluten ingested.BuphthalmosA hydrophthalmos characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure, increased corneal diameter, and swelling of the globe and causes early vision loss, photophobia, blepharospas Burkitt LymphomaA mature B-cell neoplasm of B-cells found in the germinal center.Burning Mouth SyndromeA mouth disease that is characterized by long-lasting burning sensations of the mouth.Burn-McKeown SyndromeA syndrome that is characterized by bilateral choanal atresia, cranio-facial dysmorphism, hearing loss, heart abnormalities, and short stature.BursitisInflammation of the fluid-filled sacs that cushion joints. Tracking your symptoms and connecting with others who understand can help you manage day to day.Buruli Ulcer DiseaseA primary bacterial infectious disease that causes infection in skin or in subcutaneous tissue, is caused by Mycobacterium ulcerans, which could be transmitted by insects. The bacterium produces a toxin, named mycolacton Buschke-Ollendorff SyndromeA syndrome characterized by multiple subcutaneous nevi or nodules and osteopoikilosis that is caused by heterozygous mutation in the LEMD3 gene on chromosome 12q14.3.ByssinosisA pneumoconiosis that is characterized by hypersensitive reaction to inhaled dust during the initial processing of cotton, flax, or hemp, and has symptoms of chest tightness, cough and wheezing.

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