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Disease	Synonyms	Description
Blount's disease	Blount disease; familial infantile type osteochondrosis defo.. [+] Blount disease; familial infantile type osteochondrosis deformans tibiae; [-]	An osteochondrodysplasia that results_in inward turning of l..[+] An osteochondrodysplasia that results_in inward turning of lower leg, located_in tibia, which fails to develop normally. [-]
Bolivian hemorrhagic fever		A viral infectious disease that is a hemorrhagic fever, has_..[+] A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Machupo virus, which is transmitted_by vesper mouse, Calomys callosus. The infection has_symptom fever, has_symptom headache, has_symptom fatigue, has_symptom myalgia, has_symptom arthralgia, has_symptom bleeding from the oral and nasal mucosa, and has_symptom bleeding from the bronchopulmonary, gastrointestinal and genitourinary tracts. [-]
Boomerang dysplasia		n_a
Bordetella parapertussis whooping cough		A pertussis that is a milder disease caused by the bacterium..[+] A pertussis that is a milder disease caused by the bacterium Bordetella parapertussis. The disease has_symptom coughing, has_symptom sneezing, or has_symptom runny nose . [-]
Borjeson-Forssman-Lehmann syndrome	BORJ; Borjeson syndrome; mental retardation, epilepsy, and e.. [+] BORJ; Borjeson syndrome; mental retardation, epilepsy, and endocrine disorder; syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type; MRXSBFL; BFLS; intellectual deficiency-epilepsy-endocrine disorders syndrome; [-]	An X-linked disease that is characterized by intellectual di..[+] An X-linked disease that is characterized by intellectual disability, truncal obesity, seizures, hypogonadism, developmental delay, distinctive facial features, tapered fingers and short toes and has_material_basis_in X-linked recessive inheritance of mutations in the PHF6 gene. [-]
Borst-Jadassohn intraepidermal carcinoma	Bowen's disease, clonal (disorder); Intraepidermal Epithelio.. [+] Bowen's disease, clonal (disorder); Intraepidermal Epithelioma of Jadassohn; Bowen's disease, clonal; [-]	n_a
Bothnia retinal dystrophy	Vasterbotten dystrophy;	n_a
Bothnian type palmoplantar keratoderma	diffuse palmoplantar keratoderma, Bothnian type; PPKB;	A nonepidermolytic palmoplantar keratoderma characterized by..[+] A nonepidermolytic palmoplantar keratoderma characterized by a diffuse nonepidermolytic form of palmoplantar keratoderma where the affected areas take on a white, spongy appearance upon exposure to water that has_material_basis_in heterozygous mutation in AQP5 on chromosome 12q13.12. [-]
Boucher-Neuhauser syndrome	ataxia-hypogonadism-choroidal dystrophy syndrome;	A syndrome characterized by spinocerebellar ataxia, hypogona..[+] A syndrome characterized by spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2. [-]
Bowen-Conradi syndrome	Bowen Hutterite syndrome; Bowen-Conradi Hutterite syndrome; .. [+] Bowen Hutterite syndrome; Bowen-Conradi Hutterite syndrome; BWCNS; [-]	A syndrome that is characterized by growth delays, failure t..[+] A syndrome that is characterized by growth delays, failure to thrive and malformations of the head and face that results in infantile death, has_material_basis_in homozygous mutation in the EMG1 gene on chromosome 12p13. [-]
Bowman's membrane folds or rupture	Bowman membrane folds or rupture;	n_a
Brazilian hemorrhagic fever		A viral infectious disease that is a hemorrhagic fever, has_..[+] A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Sabia virus, which is transmitted_by rodents. The infection has_symptom fever, has_symptom eye redness, has_symptom fatigue, has_symptom dizziness, has_symptom muscle aches, has_symptom loss of strength, and has_symptom bleeding under the skin, internal organs, or from body orifices like the mouth, eyes or ears. [-]
Brill-Zinsser disease	Brill's disease; Brill-Zinsser disease (disorder); Latent ty.. [+] Brill's disease; Brill-Zinsser disease (disorder); Latent typhus; Recrudescent typhus; Sporadic typhus; Brill Zinsser disease; [-]	An epidemic typhus that is a mild form of the disease, which..[+] An epidemic typhus that is a mild form of the disease, which recurs in someone after a long period of latency due to immunosuppression, malnutrition or other illnesses. [-]
Brody myopathy		A neuromuscular disease is characterized by difficulty relax..[+] A neuromuscular disease is characterized by difficulty relaxing muscles and muscle stiffness following exercise or other strenuous activity and is located_in skeletal muscles. [-]
Brooke-Spiegler syndrome	BRSS; BSS; CYLD cutaneous syndrome; SBS; Spiegler-Brooke Syn.. [+] BRSS; BSS; CYLD cutaneous syndrome; SBS; Spiegler-Brooke Syndrome; [-]	A skin disease that is characterized by the development of s..[+] A skin disease that is characterized by the development of several types of tumors from the skin, has_material_basis_in heterozygous mutation in the CYLD gene on chromosome 16q12. [-]
Brooks-Wisniewski-Brown syndrome	X-linked intellectual disability, Brooks type;	A syndromic X-linked intellectual disability characterized b..[+] A syndromic X-linked intellectual disability characterized by intellectual disability, distinct facial appearance and growth retardation that has_material_basis_in variation on the X chromosome. [-]
Brown's tendon sheath syndrome	Brown tendon sheath syndrome; Brown's sheath syndrome; Brown.. [+] Brown tendon sheath syndrome; Brown's sheath syndrome; Brown's (tendon) sheath syndrome; [-]	n_a
Brown-Sequard syndrome	Brown-Squard syndrome (disorder); Brown-Squard syndrome;	n_a
Brown-Vialetto-Van Laere syndrome		A syndrome that is characterized by progressive bulbar palsi..[+] A syndrome that is characterized by progressive bulbar palsies with sensorineural deafness. [-]
Brucella abortus brucellosis		A brucellosis that involves an infection caused by Brucella ..[+] A brucellosis that involves an infection caused by Brucella abortus [NCBITaxon:235] in cattle and humans. The disease has_symptom fever, has_symptom chills, has_symptom sweats, has_symptom weight loss, has_symptom malaise, has_symptom headaches, has_symptom myalgia, and has_symptom arthralgia. [-]
Brucella canis brucellosis		A brucellosis involving an infection caused by Brucella cani..[+] A brucellosis involving an infection caused by Brucella canis [NCBITaxon:36855] in dogs and humans. The disease has_symptom fever, has_symptom sweats, has_symptom weakness, has_symptom weight loss, has_symptom headache, has_symptom lymphadenopathy and has_symptom splenomegaly. [-]
Brucella melitensis brucellosis		A brucellosis that involves an infection caused by Brucella ..[+] A brucellosis that involves an infection caused by Brucella melitensis [NCBITaxon:29459] in cattle, goats, sheep and humans. The disease has_symptom fever, has_symptom malaise, has_symptom anorexia, has_symptom limb pain and has_symptom back pain. [-]
Brucella suis brucellosis		A brucellosis that involves an infection caused by Brucella ..[+] A brucellosis that involves an infection caused by Brucella suis [NCBITaxon:29461] in swine and humans. The disease has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom diaphoresis, has_symptom arthralgia, has_symptom myalgia, has_symptom headache, has_symptom anorexia, and has_symptom fatigue. [-]
Bruck syndrome	osteogenesis imperfecta with congenital joint contractures;	A syndrome characterized by a combination of multiple joint ..[+] A syndrome characterized by a combination of multiple joint contractures and osteogenesis imperfecta. [-]
Brugada syndrome	Brugada type idiopathic ventricular fibrillation; Pokkuri de.. [+] Brugada type idiopathic ventricular fibrillation; Pokkuri death syndrome; sudden unexplained nocturnal death syndrome; Dream disease; Bangungut; SUNDS; [-]	A heart conduction disease that is characterized by abnormal..[+] A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death. [-]
Brugada syndrome 1	BRGDA1;	A Brugada syndrome that has material basis in heterozygous m..[+] A Brugada syndrome that has material basis in heterozygous mutation in the SCN5A gene on chromosome 3p22. [-]
Brugada syndrome 2	BRGDA2;	A Brugada syndrome that has material basis in heterozygous m..[+] A Brugada syndrome that has material basis in heterozygous mutation in the GPD1L gene on chromosome 3p22. [-]
Brugada syndrome 3	BRGDA3;	A Brugada syndrome that has material basis in heterozygous m..[+] A Brugada syndrome that has material basis in heterozygous mutation in the gene encoding the alpha-1C subunit of the L-type voltage-dependent calcium channel (CACNA1C) on chromosome 12p13. [-]
Brugada syndrome 4	BRGDA4;	A Brugada syndrome that has material basis in heterozygous m..[+] A Brugada syndrome that has material basis in heterozygous mutation in the gene encoding the beta-2 subunit of the voltage-dependent L-type calcium channel (CACNB2) on chromosome 10p12. [-]
Brugada syndrome 5	BRGDA5;	A Brugada syndrome that has material basis in heterozygous m..[+] A Brugada syndrome that has material basis in heterozygous mutation in the SCN1B gene on chromosome 19q13. [-]
Brugada syndrome 6	BRGDA6;	A Brugada syndrome that has material basis in heterozygous m..[+] A Brugada syndrome that has material basis in heterozygous mutation in the KCNE3 gene on chromosome 11q13. [-]
Brugada syndrome 7	BRGDA7;	A Brugada syndrome that has material basis in heterozygous m..[+] A Brugada syndrome that has material basis in heterozygous mutation in the SCN3B gene on chromosome 11q24. [-]
Brugada syndrome 8	BRGDA8;	A Brugada syndrome that has material basis in heterozygous m..[+] A Brugada syndrome that has material basis in heterozygous mutation in the HCN4 gene on chromosome 15q24. [-]
Brugada syndrome 9	BRGDA9;	A Brugada syndrome that has material basis in heterozygous m..[+] A Brugada syndrome that has material basis in heterozygous mutation in the KCND3 gene on chromosome 1p13. [-]
Brunner Syndrome	monoamine oxidase A deficiency;	An amino acid metabolic disorder characterized by recessive ..[+] An amino acid metabolic disorder characterized by recessive X-linked inhetiance, impaired monoamine metabolism, impulsive aggressiveness and mild mental retardation that has_material_basis_in mutation in the MAOA gene on chromosome Xp11. [-]
Budd-Chiari syndrome	hepatic vein thrombosis;	n_a
Burkitt lymphoma	Burkitt lymphoma/leukaemia; Burkitt's Lymphoma; Burkitt's tu.. [+] Burkitt lymphoma/leukaemia; Burkitt's Lymphoma; Burkitt's tumor; malignant lymphoma, Burkitt's type; small Non-Cleaved cell Lymphoma, Burkitt's type; Burkitt's tumor or lymphoma; [-]	A mature B-cell neoplasm of B-cells found in the germinal ce..[+] A mature B-cell neoplasm of B-cells found in the germinal center. [-]
Burn-McKeown syndrome	Choanal atresia - deafness - cardiac defects - dysmorphism s.. [+] Choanal atresia - deafness - cardiac defects - dysmorphism syndrome; [-]	A syndrome that is characterized by bilateral choanal atresi..[+] A syndrome that is characterized by bilateral choanal atresia, cranio-facial dysmorphism, \nhearing loss, heart abnormalities, and short stature. [-]
Buruli ulcer disease	Bairnsdale ulcer; Daintree ulcer; Searle's ulcer; Searl ulce.. [+] Bairnsdale ulcer; Daintree ulcer; Searle's ulcer; Searl ulcer; Mossman ulcer; [-]	A primary bacterial infectious disease that results_in infec..[+] A primary bacterial infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Mycobacterium ulcerans, which could be transmitted_by insects. The bacterium produces a toxin, named mycolactone, which causes subcutaneous fat necrosis and inhibits an immune response. The infection has_symptom nodule, which is a painless, mobile swelling in the skin. [-]
Buschke-Ollendorff syndrome	BOS; dermatofibrosis lenticularis disseminata with osteopoik.. [+] BOS; dermatofibrosis lenticularis disseminata with osteopoikilosis; disseminated dermatofibrosis with osteopoikilosis; osteopathia condensans disseminata; dermatoosteopoikilosis; [-]	A syndrome characterized by multiple subcutaneous nevi or no..[+] A syndrome characterized by multiple subcutaneous nevi or nodules and osteopoikilosis that has_material_basis_in heterozygous mutation in LEMD3 on chromosome 12q14.3. [-]
C syndrome	Opitz C trigonocephaly; Opitz trigonocephaly C syndrome; Opi.. [+] Opitz C trigonocephaly; Opitz trigonocephaly C syndrome; Opitz trigonocephaly syndrome; OTCS; trigonocephaly C syndrome; [-]	A syndrome characterized by trigonocephaly, psychomotor reta..[+] A syndrome characterized by trigonocephaly, psychomotor retardation, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features that has_material_basis_in heterozygous mutation in CD96 on chromosome 3q13.1-q13.2. [-]
C-P angle neurinoma	Cerebellopontine Angle Neurinoma;	n_a
C1 inhibitor deficiency	Quincke edema;	A complement deficiency that is a functional deficiency in t..[+] A complement deficiency that is a functional deficiency in the complement component C1 inhibitor leading to hereditary angioedema (HAE) involving swelling due to leakage of fluid from blood vessels into connective tissue. [-]
CADASIL	hereditary multi-infarct dementia; cerebral autosomal domina.. [+] hereditary multi-infarct dementia; cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; [-]	A leukodystrophy characterized by recurrent subcortical isch..[+] A leukodystrophy characterized by recurrent subcortical ischemic stroke and cognitive impairment. [-]
CADASIL 1	autosomal dominant cerebral arteriopathy with subcortical in.. [+] autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1; [-]	A CADASIL characterized by migraine, strokes, and white matt..[+] A CADASIL characterized by migraine, strokes, and white matter lesions that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13. [-]
CADASIL 2	autosomal dominant cerebral arteriopathy with subcortical in.. [+] autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2; [-]	A CADASIL characterized by stroke, transient ischemic attack..[+] A CADASIL characterized by stroke, transient ischemic attacks, cognitive impairment, dementia, balance impairment, gait disturbance, headaches, and/or seizures associated with early confluent or confluent diffuse white matter hyperintensities that has_material_basis_in heterozygous mutation in the HTRA1 gene on chromosome 10q26. [-]
CAKUT	Congenital anomalies of the kidney and urinary tract; Renal .. [+] Congenital anomalies of the kidney and urinary tract; Renal or urinary tract malformation; [-]	A urinary system disease characterized by structural malform..[+] A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux. [-]
CAKUT1		A CAKUT that has_material_ basis_in heterozygous mutation in..[+] A CAKUT that has_material_ basis_in heterozygous mutation in the DSTYK gene on chromosome 1q32. [-]
CAKUT2		A CAKUT that has_material_basis_in heterozygous mutation in ..[+] A CAKUT that has_material_basis_in heterozygous mutation in the TBX18 gene on chromosome 6q14. [-]
CD3delta deficiency	CD3D;	A severe combined immunodeficiency that is characterized by ..[+] A severe combined immunodeficiency that is characterized by the absence of T cells but normal numbers of B cells. CD3D is essential for T cell development. [-]

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