{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4000&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=3960&ordering=-synonyms","results":[{"identifier":"Atelis syndrome 2.","acronym":"ATELS2.","accession":"DI-06583","synonyms":"Mosaic variegated aneuploidy syndrome 6.; MVA6.; Poor growth, microcephaly, dysmorphic facies, and cardiac defects.; ","cross_references":"MeSH; D065886.","definition":"A form of Atelis syndrome, an autosomal recessive neurodevelopmental disorder characterized by mild to severe developmental delay, learning difficulties, microcephaly, and growth restriction with short stature. Additional features include anemia, skin hyperpigmentation, ocular anomalies, congenital heart defects, and mild skeletal abnormalities. Death in childhood may occur. Patient cells show spontaneous chromosome breakage and chromosomal anomalies, hallmarked by segmented and dicentric chromosomes and mosaic variegated hyperploidy. ","keywords":null},{"identifier":"Atelis syndrome 1.","acronym":"ATELS1.","accession":"DI-06582","synonyms":"Mosaic variegated aneuploidy syndrome 5.; MVA5.; Poor growth, microcephaly, developmental delay, and anemia.; ","cross_references":"MeSH; D065886.","definition":"A form of Atelis syndrome, an autosomal recessive neurodevelopmental disorder characterized by mild to severe developmental delay, learning difficulties, microcephaly, and growth restriction with short stature. Additional features include anemia, skin hyperpigmentation, ocular anomalies, congenital heart defects, and mild skeletal abnormalities. Death in childhood may occur. Patient cells show spontaneous chromosome breakage and chromosomal anomalies, hallmarked by segmented and dicentric chromosomes and mosaic variegated hyperploidy. ","keywords":null},{"identifier":"Mucopolysaccharidosis 4B.","acronym":"MPS4B.","accession":"DI-00779","synonyms":"Morquio's syndrome B.; Morquio syndrome B.; MPS IVB.; MPS-IVB.; Mucopolysaccharidosis type IVB.; ","cross_references":"MeSH; D009085.","definition":"A form of mucopolysaccharidosis type 4, an autosomal recessive lysosomal storage disease characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate. Key clinical features include short stature, skeletal dysplasia, dental anomalies, and corneal clouding. Intelligence is normal and there is no direct central nervous system involvement, although the skeletal changes may result in neurologic complications. There is variable severity, but patients with the severe phenotype usually do not survive past the second or third decade of life. ","keywords":"KW-0510:Mucopolysaccharidosis.; "},{"identifier":"Impaired intellectual development, truncal obesity, retinal dystrophy, and micropenis.","acronym":"MORMS.","accession":"DI-02533","synonyms":"MORM syndrome.; ","cross_references":"MeSH; D058499.","definition":"An autosomal recessive disorder characterized by moderate intellectual disability, truncal obesity, congenital non-progressive retinal dystrophy, and micropenis in males. The phenotype is similar to Bardet-Biedl syndrome and Cohen syndrome Distinguishing features are the age of onset, the non-progressive nature of the visual impairment, lack of dysmorphic facies, skin or gingival infection, microcephaly, mottled retina, polydactyly, and testicular anomalies. ","keywords":"KW-0550:Obesity.; KW-0991:Intellectual disability.; "},{"identifier":"Leptin receptor deficiency.","acronym":"LEPRD.","accession":"DI-03638","synonyms":"Morbid obesity.; Morbid obesity due to leptin receptor deficiency.; ","cross_references":"MeSH; D009767.","definition":"A rare disease characterized by normal levels of serum leptin, hyperphagia and severe obesity from an early age. Additional features include alterations in immune function, and delayed puberty due to hypogonadotropic hypogonadism. ","keywords":"KW-0550:Obesity.; "},{"identifier":"Molybdenum cofactor deficiency C.","acronym":"MOCODC.","accession":"DI-01991","synonyms":"Molybdenum cofactor deficiency, complementation group C.; Molybdenum cofactor deficiency, type C.; ","cross_references":"MeSH; D008664.","definition":"A form of molybdenum cofactor deficiency, an autosomal recessive metabolic disorder leading to the pleiotropic loss of molybdoenzyme activities. It is clinically characterized by onset in infancy of poor feeding, intractable seizures, severe psychomotor retardation, and death in early childhood in most patients. ","keywords":null},{"identifier":"Molybdenum cofactor deficiency B.","acronym":"MOCODB.","accession":"DI-01990","synonyms":"Molybdenum cofactor deficiency, complementation group B.; Molybdenum cofactor deficiency, type B.; ","cross_references":"MeSH; D008664.","definition":"An autosomal recessive metabolic disorder characterized by neonatal onset of intractable seizures, opisthotonus, and facial dysmorphism associated with hypouricemia and elevated urinary sulfite levels. Affected individuals show severe neurologic damage and often die in early childhood. ","keywords":null},{"identifier":"Orofaciodigital syndrome 2.","acronym":"OFD2.","accession":"DI-06854","synonyms":"Mohr syndrome.; OFDS II.; Oral-facial-digital syndrome II.; Orofaciodigital syndrome II.; ","cross_references":"MeSH; D009958.","definition":"A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD2 is an autosomal recessive form characterized by cleft lip/palate, lobulated tongue with nodules, dental anomalies, maxillary hypoplasia, conductive hearing loss, polydactyly, syndactyly, brachydactyly, and mesomelic lower limb shortening. ","keywords":"KW-1186:Ciliopathy.; "},{"identifier":"Maturity-onset diabetes of the young 9.","acronym":"MODY9.","accession":"DI-01950","synonyms":"MODY-9.; MODY type 9.; ","cross_references":"MeSH; D003924.","definition":"A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease. ","keywords":"KW-0219:Diabetes mellitus.; "},{"identifier":"Maturity-onset diabetes of the young 7.","acronym":"MODY7.","accession":"DI-01948","synonyms":"MODY-7.; MODY type 7.; ","cross_references":"MeSH; D003924.","definition":"A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease. ","keywords":"KW-0219:Diabetes mellitus.; "},{"identifier":"Maturity-onset diabetes of the young 6.","acronym":"MODY6.","accession":"DI-01947","synonyms":"MODY-6.; MODY type 6.; ","cross_references":"MeSH; D003924.","definition":"A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease. ","keywords":"KW-0219:Diabetes mellitus.; "},{"identifier":"Maturity-onset diabetes of the young 4.","acronym":"MODY4.","accession":"DI-01946","synonyms":"MODY-4.; MODY type 4.; ","cross_references":"MeSH; D003924.","definition":"A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease. ","keywords":"KW-0219:Diabetes mellitus.; "},{"identifier":"Maturity-onset diabetes of the young 3.","acronym":"MODY3.","accession":"DI-01945","synonyms":"MODY-3.; MODY type 3.; ","cross_references":"MeSH; D003924.","definition":"A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease. ","keywords":"KW-0219:Diabetes mellitus.; "},{"identifier":"Maturity-onset diabetes of the young 2.","acronym":"MODY2.","accession":"DI-01944","synonyms":"MODY-2.; MODY glucokinase-related.; MODY type 2.; ","cross_references":"MeSH; D003924.","definition":"A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease. ","keywords":"KW-0219:Diabetes mellitus.; "},{"identifier":"Maturity-onset diabetes of the young 11.","acronym":"MODY11.","accession":"DI-02787","synonyms":"MODY-11.; MODY type 11.; ","cross_references":"MeSH; D003924.","definition":"A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease. ","keywords":"KW-0219:Diabetes mellitus.; "},{"identifier":"Maturity-onset diabetes of the young 10.","acronym":"MODY10.","accession":"DI-02786","synonyms":"MODY-10.; MODY type 10.; ","cross_references":"MeSH; D003924.","definition":"A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease. ","keywords":"KW-0219:Diabetes mellitus.; "},{"identifier":"Morbid obesity and spermatogenic failure.","acronym":"MOSPGF.","accession":"DI-04042","synonyms":"MO1 syndrome.; ","cross_references":"MeSH; D009767.","definition":"An autosomal recessive morbid obesity syndrome characterized by hypertension, fatty liver disease, insulin resistance, and decreased sperm counts. Variable clinical manifestations are early coronary artery disease with myocardial infarction before 45 years of age, type II diabetes mellitus, and intellectual disability. Morbid obese individuals are defined as having a BMI greater than 40. ","keywords":"KW-0550:Obesity.; "},{"identifier":"Methylmalonate semialdehyde dehydrogenase deficiency.","acronym":"MMSDHD.","accession":"DI-01973","synonyms":"MMSDH deficiency.; ","cross_references":"MeSH; D000592.","definition":"A metabolic disorder characterized by elevated beta-alanine, 3- hydroxypropionic acid, and both isomers of 3-amino and 3- hydroxyisobutyric acids in urine organic acids. ","keywords":null},{"identifier":"Multiple mitochondrial dysfunctions syndrome 1.","acronym":"MMDS1.","accession":"DI-03293","synonyms":"MMDS.; ","cross_references":"MeSH; D028361.","definition":"A severe disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis, hyperglycinemia and early death. Some patients show failure to thrive, pulmonary hypertension, hypotonia and irritability. Biochemical features include severe combined deficiency of the 2- oxoacid dehydrogenases, defective lipoic acid synthesis and reduction in activity of mitochondrial respiratory chain complexes. ","keywords":null},{"identifier":"Mucolipidosis 4.","acronym":"ML4.","accession":"DI-01998","synonyms":"MLIV.; Mucolipidosis IV.; Mucolipidosis type IV.; Sialolipidosis.; ","cross_references":"MeSH; D009081.","definition":"An autosomal recessive lysosomal storage disorder characterized by severe psychomotor retardation and ophthalmologic abnormalities, including corneal opacity, retinal degeneration and strabismus. Storage bodies of lipids and water-soluble substances are seen by electron microscopy in almost every cell type of the patients. Most patients are unable to speak or walk independently and reach a maximal developmental level of 1-2 years. All patients have constitutive achlorhydia associated with a secondary elevation of serum gastrin levels. ","keywords":"KW-0942:Mucolipidosis.; "}]}