{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=200&ordering=-identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=160&ordering=-identifier","results":[{"identifier":"Urocanase deficiency.","acronym":"UROCD.","accession":"DI-02405","synonyms":"Encephalopathy due to urocanase deficiency.; ","cross_references":"MeSH; D000592.","definition":"An inborn error of histidine metabolism resulting in urocanic aciduria and neurological manifestations including intellectual disability, ataxia, episodic aggressive behavior or exaggerated affection-seeking. ","keywords":null},{"identifier":"Uridine-cytidineuria.","acronym":"URCTU.","accession":"DI-05596","synonyms":null,"cross_references":"MeSH; D011686.","definition":"An autosomal recessive inborn error of metabolism characterized by increased urinary uridine and cytidine excretion. It is a likely benign metabolic trait without clinical manifestations. ","keywords":null},{"identifier":"Uric acid nephrolithiasis.","acronym":"UAN.","accession":"DI-02839","synonyms":"Uric acid urolithiasis.; ","cross_references":"MeSH; D053040.","definition":"A form of nephrolithiasis, a common multifactorial disease characterized by stones formation in the kidney and urinary tract. Nephrolithiasis is due to supersaturation of the urine by stone- forming constituents, including calcium, oxalate and uric acid. Crystals or foreign bodies can act as nidi, upon which ions from the supersaturated urine form microscopic crystalline structures. Uric acid nephrolithiasis occurs when the urine becomes overly concentrated with uric acid and accounts for 20% of all stones. ","keywords":null},{"identifier":"Urban-Rifkin-Davis syndrome.","acronym":"URDS.","accession":"DI-02872","synonyms":"Cutis laxa with severe pulmonary gastrointestinal and urinary abnormalities.; ","cross_references":"MeSH; D003483.","definition":"A syndrome characterized by disrupted pulmonary, gastrointestinal, urinary, musculoskeletal, craniofacial and dermal development. Clinical features include cutis laxa, mild cardiovascular lesions, respiratory distress with cystic and atelectatic changes in the lungs, and diverticulosis, tortuosity and stenosis at various levels of the intestinal tract. Craniofacial features include microretrognathia, flat midface, receding forehead and wide fontanelles. ","keywords":null},{"identifier":"Uncombable hair syndrome 3.","acronym":"UHS3.","accession":"DI-04897","synonyms":null,"cross_references":"MeSH; D006201.","definition":"A form of uncombable hair syndrome, a condition characterized by scalp hair that is impossible to comb due to the haphazard arrangement of the hair bundles. A characteristic morphologic feature is a triangular to reniform to heart shape on cross-sections, and a groove, canal or flattening along the entire length of the hair. Most individuals are affected early in childhood and the hair takes on a spun-glass appearance with the hair becoming dry, curly, glossy, lighter in color, and progressively uncombable. The hair growth rate can range from slow to normal, and the condition improves with age. ","keywords":null},{"identifier":"Uncombable hair syndrome 2.","acronym":"UHS2.","accession":"DI-04896","synonyms":null,"cross_references":"MeSH; D006201.","definition":"A form of uncombable hair syndrome, a condition characterized by scalp hair that is impossible to comb due to the haphazard arrangement of the hair bundles. A characteristic morphologic feature is a triangular to reniform to heart shape on cross-sections, and a groove, canal or flattening along the entire length of the hair. Most individuals are affected early in childhood and the hair takes on a spun-glass appearance with the hair becoming dry, curly, glossy, lighter in color, and progressively uncombable. The hair growth rate can range from slow to normal, and the condition improves with age. ","keywords":null},{"identifier":"Uncombable hair syndrome 1.","acronym":"UHS1.","accession":"DI-04895","synonyms":"Chevelure en vadrouille.; Cheveux incoiffables.; Pili trianguli et canaliculi.; Spun glass hair.; UHS.; Uncombable hair syndrome.; Unmanageable hair syndrome.; ","cross_references":"MeSH; D006201.","definition":"A form of uncombable hair syndrome, a condition characterized by scalp hair that is impossible to comb due to the haphazard arrangement of the hair bundles. A characteristic morphologic feature is a triangular to reniform to heart shape on cross-sections, and a groove, canal or flattening along the entire length of the hair. Most individuals are affected early in childhood and the hair takes on a spun-glass appearance with the hair becoming dry, curly, glossy, lighter in color, and progressively uncombable. The hair growth rate can range from slow to normal, and the condition improves with age. UHS1 inheritance is autosomal dominant. ","keywords":null},{"identifier":"Ulnar-mammary syndrome.","acronym":"UMS.","accession":"DI-02404","synonyms":null,"cross_references":"MedGen; C1866994.","definition":"Characterized by ulnar ray defects, obesity, hypogenitalism, delayed puberty, hypoplasia of nipples and apocrine glands. ","keywords":null},{"identifier":"Ullrich congenital muscular dystrophy 2.","acronym":"UCMD2.","accession":"DI-04486","synonyms":null,"cross_references":"MeSH; D009136.","definition":"A form of Ullrich congenital muscular dystrophy, a disease characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence. Additional findings may include kyphoscoliosis, protruded calcanei, and follicular hyperkeratosis (rough skin). More severely affected patients manifest at birth and never achieve independent ambulation, while patients with milder phenotypes might maintain ambulation into adulthood. UCMD2 is a severe, autosomal recessive form with onset at birth. ","keywords":"KW-0912:Congenital muscular dystrophy.; "},{"identifier":"Ullrich congenital muscular dystrophy 1C.","acronym":"UCMD1C.","accession":"DI-06836","synonyms":null,"cross_references":"MeSH; D009136.","definition":"A form of Ullrich congenital muscular dystrophy, a disease characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence. Additional findings may include kyphoscoliosis, protruded calcanei, and follicular hyperkeratosis (rough skin). More severely affected patients manifest at birth and never achieve independent ambulation, while patients with milder phenotypes might maintain ambulation into adulthood. Inheritance can be autosomal dominant or autosomal recessive. ","keywords":"KW-0912:Congenital muscular dystrophy.; "},{"identifier":"Ullrich congenital muscular dystrophy 1B.","acronym":"UCMD1B.","accession":"DI-06835","synonyms":null,"cross_references":"MeSH; D009136.","definition":"A form of Ullrich congenital muscular dystrophy, a disease characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence. Additional findings may include kyphoscoliosis, protruded calcanei, and follicular hyperkeratosis (rough skin). More severely affected patients manifest at birth and never achieve independent ambulation, while patients with milder phenotypes might maintain ambulation into adulthood. Inheritance can be autosomal dominant or autosomal recessive. ","keywords":"KW-0912:Congenital muscular dystrophy.; "},{"identifier":"Ullrich congenital muscular dystrophy 1A.","acronym":"UCMD1A.","accession":"DI-01110","synonyms":"LGMDR22.; Muscular dystrophy, limb-girdle, autosomal recessive 22.; Scleroatonic muscular dystrophy.; UCMD.; Ullrich congenital muscular dystrophy.; Ullrich disease.; Ullrich scleroatonic muscular dystrophy.; ","cross_references":"MeSH; D009136.","definition":"A form of Ullrich congenital muscular dystrophy, a disease characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence. Additional findings may include kyphoscoliosis, protruded calcanei, and follicular hyperkeratosis (rough skin). More severely affected patients manifest at birth and never achieve independent ambulation, while patients with milder phenotypes might maintain ambulation into adulthood. Inheritance can be autosomal dominant or autosomal recessive. ","keywords":"KW-0912:Congenital muscular dystrophy.; "},{"identifier":"Ubiquitin-positive frontotemporal dementia.","acronym":"UP-FTD.","accession":"DI-02402","synonyms":"Tau-negative frontotemporal dementia linked to chromosome 17.; ","cross_references":"MedGen; C1843792.","definition":"Frontotemporal dementia (FTD) is the second most common cause of dementia in people under the age of 65 years. It is an autosomal dominant neurodegenerative disease. ","keywords":null},{"identifier":"Tyrosinemia 3.","acronym":"TYRSN3.","accession":"DI-01109","synonyms":"4-hydroxyphenylpyruvate dioxygenase deficiency.; 4-hydroxyphenylpyruvic acid oxidase deficiency.; Tyrosinemia type III.; ","cross_references":"MeSH; D020176.","definition":"An inborn error of metabolism characterized by elevations of tyrosine in the blood and urine, seizures and mild intellectual disability. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Tyrosinemia 2.","acronym":"TYRSN2.","accession":"DI-01108","synonyms":"Keratosis palmoplantaris with corneal dystrophy.; Oculocutaneous tyrosinemia.; Richner-Hanhart syndrome.; TAT deficiency.; Tyrosine aminotransferase deficiency.; Tyrosinemia Oregon type.; Tyrosinemia type II.; Tyrosine transaminase deficiency.; Tyrosinosis oculocutaneous type.; ","cross_references":"MeSH; D020176.","definition":"An inborn error of metabolism characterized by elevations of tyrosine in the blood and urine, and oculocutaneous manifestations. Typical features include palmoplantar keratosis, painful corneal ulcers, and intellectual disability. ","keywords":"KW-0991:Intellectual disability.; KW-1007:Palmoplantar keratoderma.; "},{"identifier":"Tyrosinemia 1.","acronym":"TYRSN1.","accession":"DI-01107","synonyms":"FAH deficiency.; Fumarylacetoacetase deficiency.; Hepatorenal tyrosinemia.; Tyrosinemia type I.; ","cross_references":"MeSH; D020176.","definition":"An inborn error of metabolism characterized by elevations of tyrosine in the blood and urine, and hepatorenal manifestations. Typical features include hepatic necrosis, renal tubular injury, episodic weakness, self-mutilation, and seizures. Renal tubular dysfunction is associated with phosphate loss and hypophosphataemic rickets. Progressive liver disease can lead to the development of hepatocellular carcinoma. Dietary treatment with restriction of tyrosine and phenylalanine alleviates the rickets, but liver transplantation has so far been the only definite treatment. ","keywords":null},{"identifier":"Type IIb congenital disorder of glycosylation.","acronym":"CDGIIb.","accession":"DI-02399","synonyms":"Glucosidase I deficiency.; ","cross_references":"MedGen; C1853736.","definition":"Characterized by marked generalized hypotonia and hypomotility of the neonate, dysmorphic features, including a prominent occiput, short palpebral fissures, retrognathia, high arched palate, generalized edema, and hypoplastic genitalia. Symptoms of the infant included hepatomegaly, hypoventilation, feeding problems and seizures. The clinical course was progressive and the infant did not survive more than a few months. ","keywords":null},{"identifier":"Type 2 diabetes mellitus 5.","acronym":"T2D5.","accession":"DI-04265","synonyms":"Diabetes mellitus, non-insulin-dependent, 5.; NIDDM5.; ","cross_references":"MeSH; D003924.","definition":"A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. ","keywords":"KW-0219:Diabetes mellitus.; "},{"identifier":"Type 2 diabetes mellitus 1.","acronym":"T2D1.","accession":"DI-02781","synonyms":"Diabetes mellitus, non-insulin-dependent, 1.; NIDDM1.; ","cross_references":"MeSH; D003924.","definition":"A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. ","keywords":"KW-0219:Diabetes mellitus.; "},{"identifier":"Type 2 diabetes mellitus.","acronym":"T2D.","accession":"DI-02060","synonyms":"Adult-onset diabetes mellitus.; Diabetes mellitus type 2.; Diabetes mellitus type II.; Maturity-onset diabetes.; Noninsulin-dependent diabetes mellitus.; ","cross_references":"MeSH; D003924.","definition":"A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. ","keywords":"KW-0219:Diabetes mellitus.; "}]}