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Disease	Synonyms	Description	Articles	Phenotypes
basidiobolomycosis		A subcutaneous mycosis that involves a chronic inf..[+] A 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 subcutaneous nodules which develop into massive, firm, indurated, painless swellings which are freely movable over the underlying muscle, but are attached to the skin which may become hyperpigmented but not ulcerated. [-]
bradyopsia	prolonged electroretinal response suppression	A retinal disease characterized by the slower than..[+] A retinal disease characterized by the slower than usual adaptation of the eyes to changing light conditions. [-]
Brugada syndrome	Bangungut; Brugada type idiopathic ventricular fib.. [+] Bangungut; Brugada type idiopathic ventricular fibrillation; Pokkuri death syndrome; sudden unexplained nocturnal death syndrome; Dream disease; SUNDS [-]	A heart conduction disease that is characterized b..[+] A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death. [-]	4 articles
Buruli ulcer disease	Bairnsdale ulcer; Daintree ulcer; Searle's ulcer; .. [+] Bairnsdale ulcer; Daintree ulcer; Searle's ulcer; Searl ulcer; Mossman ulcer [-]	A primary bacterial infectious disease that result..[+] 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. [-]
Barth syndrome	3-methylglutaconicaciduria type 2; 3-methylglutaco.. [+] 3-methylglutaconicaciduria type 2; 3-methylglutaconicaciduria type II; MGA type II; MGA Type 2 [-]	A 3-methylglutaconic aciduria that has_material_ba..[+] A 3-methylglutaconic aciduria that has_material_basis_in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin. [-]
bacterial exanthem		An exanthem that is characterized by a diffuse, re..[+] An 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. [-]
bulbospinal polio		A paralytic poliomyelitis that results in destruct..[+] A paralytic poliomyelitis that results in destruction located in motor neurons of brainstem or located in motor neurons of spinal cord, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom difficulty breathing, has symptom difficulty swallowing, and has symptom paralysis of arms and legs. [-]
Barmah Forest virus disease		A viral infectious disease that results_in infecti..[+] A viral infectious disease that results_in infection located_in joint, has_material_basis_in Barmah Forest virus, which is transmitted_by mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash. [-]
Balkan hemorrhagic fever		A hemorrhagic fever with renal syndrome that resul..[+] A hemorrhagic fever with renal syndrome that results in infection located in kidney, has_material_basis_in Dobrava-Belgrade virus, which is transmitted by yellow-necked field mouse, Apodemus flavicollis. The infection has symptom headache, has symptom fever, has symptom muscle pains, has symptom facial flush, has symptom petechiae, has symptom proteinuria, and has symptom renal failure. [-]
brachydactyly		A dysostosis characterized by short fingers and to..[+] A dysostosis characterized by short fingers and toes. [-]	1 articles
bile duct carcinoma in situ		n_a
bronchus carcinoma in situ		n_a
bladder benign neoplasm		n_a
biliary tract benign neoplasm	extrahepatic bile duct neoplasm; neoplasm of extra.. [+] extrahepatic bile duct neoplasm; neoplasm of extrahepatic bile ducts (disorder); neoplasm of extrahepatic bile ducts; tumor of the extrahepatic bile duct [-]	A hepatobiliary benign neoplasm located_in the bil..[+] A hepatobiliary benign neoplasm located_in the biliary tract. [-]
Baller-Gerold syndrome		A synostosis characterized by coronal craniosynost..[+] A synostosis characterized by coronal craniosynostosis, short stature, and aplasia or hypoplasia of the radial bone. [-]
Bamforth-Lazarus syndrome	HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CL.. [+] HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE [-]	n_a
Bannayan-Riley-Ruvalcaba syndrome	Bannayan-Zonana syndrome; BANNAYAN-ZONANA SYNDROME.. [+] Bannayan-Zonana syndrome; BANNAYAN-ZONANA SYNDROME; RILEY-SMITH SYNDROME; RUVALCABA-MYHRE-SMITH SYNDROME; Riley-Smith syndrome; Ruvalcaba-Myhre-Smith syndrome; Cowden syndrome 1 [-]	A Cowden syndrome that is characterized by macroce..[+] A Cowden syndrome that is characterized by macrocephaly, multiple noncancerous tumors and hamartomas, and dark freckles on the penis, and has_material_basis_in heterozygous germline mutation in the PTEN gene on chromosome 10q23. [-]
Bart-Pumphrey syndrome	KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFN.. [+] KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS [-]	A syndrome that is characterized by leukonychia, w..[+] A syndrome that is characterized by leukonychia, wart-like skin growths, palmoplantar keratoderma and hearing loss, has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12. [-]	1 articles
biotin-responsive basal ganglia disease		n_a
Beare-Stevenson cutis gyrata syndrome		A syndrome that is characterized by cutis gyrata, ..[+] A syndrome that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26. [-]
bestrophinopathy	autosomal recessive bestrophinopathy	n_a
Bethlem myopathy	benign congenital muscular dystrophy	A congenital muscular dystrophy that is characteri..[+] A congenital muscular dystrophy that is characterized by myopathy and joint contractures that progresses slowly, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the COL6A1 gene, the COL6A2 gene, or the COL6A3 gene. [-]
Bietti crystalline corneoretinal dystrophy	Bietti's crystalline dystrophy	A retinal degeneration that is characterized by cr..[+] A retinal degeneration that is characterized by crystals in the cornea, shiny deposits on the retina and progressive atrophy of the retina, choriocapillaris and choroid, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the CYP4V2 gene on chromosome 4q35. [-]
Birk-Barel syndrome	Birk-Barel mental retardation dysmorphism syndrome.. [+] Birk-Barel mental retardation dysmorphism syndrome; BIRK-BAREL MENTAL RETARDATION DYSMORPHISM SYNDROME [-]	A syndrome that is characterized by intellectual d..[+] A syndrome that is characterized by intellectual disability, hypotonia, hyperactivity and facies, has_material_basis_in heterozygous mutation in the KCNK9 gene on chromosome 8q24. [-]	1 articles
Birt-Hogg-Dube syndrome		A skin disease that is characterized by hair folli..[+] A skin disease that is characterized by hair follicle hamartomas, kidney tumors, and spontaneous pneumothorax, has_material_basis_in heterozygous mutation in the gene encoding folliculin (FLCN) on chromosome 17p11. [-]
Bjornstad syndrome	BJS; deafness-pili torti-hypogonadism syndrome; PT.. [+] BJS; deafness-pili torti-hypogonadism syndrome; PTD [-]	A syndrome that is characterized by early onset of..[+] A syndrome that is characterized by early onset of hearing loss and hair loss due to pili torti, has_material_basis_in homozygous or compound heterozygous mutation in the BCS1L gene on chromosome 2q35. [-]
Blau syndrome	BLAUS; Jabs syndrome; ARTHROCUTANEOUVEAL GRANULOMA.. [+] BLAUS; Jabs syndrome; ARTHROCUTANEOUVEAL GRANULOMATOSIS [-]	A syndrome characterized by familial granulomatous..[+] A syndrome characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has_material_basis_in heterozygous mutations in the NOD2 gene. [-]
blue cone monochromacy		An achromatopsia that is characterized by severely..[+] An 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 in the retina and has_material_basis_in recessive X-linked inheritance. [-]
Boomerang dysplasia		An osteochondrodysplasia that is characterized by ..[+] An osteochondrodysplasia that is characterized by severe dwarfism, dislocated joints, club feet, distinctive facies and dysplastic tubular bones with boomerang-like bowing, has_material_basis_in heterozygous mutation in the FLNB gene on chromosome 3p14. [-]
Borjeson-Forssman-Lehmann syndrome	BORJ; Borjeson syndrome; BFLS; mental retardation,.. [+] BFLS; Borjeson syndrome; BORJ; mental retardation, epilepsy, and endocrine disorder; syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type; MRXSBFL; intellectual deficiency-epilepsy-endocrine disorders syndrome [-]	An X-linked disease that is characterized by intel..[+] An X-linked disease that is characterized by intellectual disability, truncal obesity, seizures, hypogonadism, developmental delay, distinctive facial features, tapered fingers and short toes and has_material_basis_in X-linked recessive inheritance of mutations in the PHF6 gene. [-]
Bothnia retinal dystrophy	Vasterbotten dystrophy	A fundus dystrophy that is characterized by early ..[+] A fundus dystrophy that is characterized by early onset of night blindness and decreased visual acuity that progresses to blindness in early adulthood, has_material_basis_in mutation in RLBP1 gene. [-]
Bowen-Conradi syndrome	Bowen-Conradi Hutterite syndrome; BWCNS; Bowen Hut.. [+] BWCNS; Bowen-Conradi Hutterite syndrome; Bowen Hutterite syndrome [-]	A syndrome that is characterized by growth delays,..[+] A syndrome that is characterized by growth delays, failure to thrive and malformations of the head and face that results in infantile death, has_material_basis_in homozygous mutation in the EMG1 gene on chromosome 12p13. [-]	1 articles
brachydactyly-syndactyly syndrome		A syndrome that is characterized by brachydactyly ..[+] A syndrome that is characterized by brachydactyly and syndactyly, has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31. [-]
brachyolmia	brachyrachia	An osteochondrodysplasia characterized by generali..[+] An osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature. [-]	1 articles
branchiooculofacial syndrome		A syndrome that is characterized by low birth weig..[+] A syndrome that is characterized by low birth weight and growth retardation, bilateral branchial clefts. [-]	1 articles
Brody myopathy		A neuromuscular disease is characterized by diffic..[+] A neuromuscular disease is characterized by difficulty relaxing muscles and muscle stiffness following exercise or other strenuous activity and is located in skeletal muscles. [-]
Brooke-Spiegler syndrome	BRSS; BSS; CYLD cutaneous syndrome; Spiegler-Brook.. [+] BSS; BRSS; CYLD cutaneous syndrome; Spiegler-Brooke Syndrome; SBS [-]	A skin disease that is characterized by the develo..[+] A skin disease that is characterized by the development of several types of tumors from the skin, has_material_basis_in heterozygous mutation in the CYLD gene on chromosome 16q12. [-]
Brown-Vialetto-Van Laere syndrome		A syndrome that is characterized by sensorineural ..[+] A syndrome that is characterized by sensorineural hearing loss and a variety of cranial nerve palsies, usually involving the motor components of the seventh and ninth to twelfth cranial nerves. [-]
biotin deficiency	B7 deficiency	A nutritional deficiency disease that is character..[+] A 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. [-]
bone ameloblastoma		A bone benign neoplasm that has_material_basis_in ..[+] A bone benign neoplasm that has_material_basis_in odontogenic epithelium and is located_in bone. [-]
bone squamous cell carcinoma		A bone carcinoma that derives_from squamous epithe..[+] A bone carcinoma that derives_from squamous epithelial cells. [-]
bone chondrosarcoma		A chondrosarcoma that is located_in bone.
brain stem medulloblastoma		A brain stem cancer that begins in the lower part ..[+] A brain stem cancer that begins in the lower part of the brain on the floor of the skull. [-]
bronchus mucoepidermoid carcinoma		A mucoepidermoid carcinoma located_in the bronchus..[+] A mucoepidermoid carcinoma located_in the bronchus. [-]
breast lobular carcinoma		A breast carcinoma that derives_from breast lobule..[+] A breast carcinoma that derives_from breast lobules (milk glands). [-]
B cell linker protein deficiency	BLNK deficiency; B-cell linker protein deficiency; .. [+] B-cell linker protein deficiency; BLNK deficiency [-]	A hypobammaglobulinemia that is a B cell deficienc..[+] A hypobammaglobulinemia that is a B cell deficiency that has material basis in a mutation in a cytoplasmic linker or adaptor protein that plays a critical role in B cell development, the B cell linker protein (BLNK) gene. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. The BLNK gene is associated with intracellular calcium mobilization, essential for cell activation. [-]
benign neoplasm		A disease of cellular proliferation that results i..[+] A disease of cellular proliferation that results in abnormal growths in the body which lack the ability to metastasize. [-]	7 articles	4 matches
breast benign neoplasm		n_a
bone benign neoplasm		A connective tissue benign neoplasm that is locate..[+] A connective tissue benign neoplasm that is located_in bone. [-]
brain meningioma		A brain cancer that is characterized by tumor of t..[+] A brain cancer that is characterized by tumor of the meninges, that develops from the membranes that surround the brain and spinal cord, has_material_basis_in abnormally proliferating cells derives_from meningeal cells of embryonic ectoderm origin. [-]

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