{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4040&ordering=identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4000&ordering=identifier","results":[{"identifier":"Methylmalonic aciduria and homocystinuria, cblX type.","acronym":"MAHCX.","accession":"DI-03561","synonyms":"Intellectual developmental disorder, X-linked 3.; Methylmalonic aciduria and homocysteinemia , cblX type.; MRX3.; XLID3.; ","cross_references":"MeSH; D038901.","definition":"An X-linked recessive metabolic disorder characterized by severely delayed psychomotor development apparent in infancy, failure to thrive, impaired intellectual development, and intractable epilepsy. Additional features may include microcephaly and choreoathetosis. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Methylmalonic aciduria and homocystinuria type cblJ.","acronym":"MAHCJ.","accession":"DI-03558","synonyms":null,"cross_references":"MeSH; D008661.","definition":"A disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Clinical features include feeding difficulties, poor growth, hypotonia, lethargy, anemia, and developmental delay. ","keywords":null},{"identifier":"Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency.","acronym":"MMAM.","accession":"DI-00749","synonyms":"Methylmalonicaciduria due to methylmalonyl-CoA mutase deficiency.; Methylmalonic aciduria type mut.; Methylmalonicaciduria vitamin B12 unresponsive.; ","cross_references":"MeSH; D008661.","definition":"An often fatal disorder of organic acid metabolism. Common clinical features include lethargy, vomiting, failure to thrive, hypotonia, neurological deficit and early death. Two forms of the disease are distinguished by the presence (mut-) or absence (mut0) of residual enzyme activity. Mut0 patients have more severe neurological manifestations of the disease than do MUT- patients. MMAM is unresponsive to vitamin B12 therapy. ","keywords":null},{"identifier":"Methylmalonic aciduria, transient, due to transcobalamin receptor defect.","acronym":"MMATC.","accession":"DI-02979","synonyms":"Methylmalonic acidemia TCblR type.; Methylmalonic aciduria due to transcobalamin receptor defect.; Methylmalonic aciduria type TCblR.; ","cross_references":"MeSH; D008661.","definition":"A metabolic disorder characterized by increased blood C3-acylcarnitine levels, elevated methylmalonate and homocysteine, and low uptake of transcobalamin-bound cobalamin, but normal conversion to adenosylcobalamin and methylcobalamin. ","keywords":null},{"identifier":"Methylmalonic aciduria type cblA.","acronym":"MMAA.","accession":"DI-00747","synonyms":"Methylmalonic aciduria type A.; Vitamin B12 responsive methylmalonic acidemia type cbl A.; Vitamin B12 responsive methylmalonic aciduria type cbl A.; ","cross_references":"MeSH; D008661.","definition":"A disorder of methylmalonate and cobalamin metabolism due to defective synthesis of adenosylcobalamin. ","keywords":null},{"identifier":"Methylmalonic aciduria type cblB.","acronym":"MMAB.","accession":"DI-00748","synonyms":"Methylmalonic aciduria type B.; Vitamin B12 responsive methylmalonic acidemia type cbl B.; Vitamin B12 responsive methylmalonic aciduria type cbl B.; ","cross_references":"MeSH; D008661.","definition":"A disorder of methylmalonate and cobalamin metabolism due to defective synthesis of adenosylcobalamin. ","keywords":null},{"identifier":"Methylmalonyl-CoA epimerase deficiency.","acronym":"MCEED.","accession":"DI-01974","synonyms":"Methylmalonic aciduria III.; Methylmalonic aciduria type 3.; Methylmalonyl-CoA racemase deficiency.; ","cross_references":"MedGen; C1855101.","definition":"Autosomal recessive inborn error of amino acid metabolism, involving valine, threonine, isoleucine and methionine. This organic aciduria may present in the neonatal period with life-threatening metabolic acidosis, hyperammonemia, feeding difficulties, pancytopenia and coma. ","keywords":null},{"identifier":"Mevalonic aciduria.","acronym":"MEVA.","accession":"DI-01975","synonyms":null,"cross_references":"MedGen; C1959626.","definition":"Accumulation of mevalonic acid which causes a variety of symptoms such as psychomotor retardation, dysmorphic features, cataracts, hepatosplenomegaly, lymphadenopathy, anemia, hypotonia, myopathy, and ataxia. ","keywords":null},{"identifier":"MHC class I deficiency 1.","acronym":"MHC1D1.","accession":"DI-00170","synonyms":"Bare lymphocyte syndrome 1.; BLS1.; BLS I.; BLS type I.; HLA class I deficiency.; ","cross_references":"MeSH; D007153.","definition":"An autosomal recessive immunologic disorder characterized by chronic bacterial infections of the respiratory tract, beginning in the first or second decade of life and usually progressing to bronchiectasis. Patients have nasal polyps and may develop chronic necrotizing granulomatous lesions affecting the nasal cavity, upper respiratory tract, and skin. ","keywords":null},{"identifier":"MHC class I deficiency 2.","acronym":"MHC1D2.","accession":"DI-06899","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal recessive, progressive disorder characterized by chronic bacterial infections of the upper and lower respiratory tract apparent in the first or second decades of life, nasal polyps, and ulcers with granulomatous inflammation affecting the nasal cavity, upper respiratory tract, or skin. Patients may develop bronchiectasis and respiratory failure. ","keywords":null},{"identifier":"MHC class I deficiency 3.","acronym":"MHC1D3.","accession":"DI-06900","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal recessive disorder characterized by glomerulonephritis and markedly reduced cell surface expression of class I HLA antigens. Additional features are herpes zoster infection and polyps of the stomach and colon. ","keywords":null},{"identifier":"MHC class II deficiency 1.","acronym":"MHC2D1.","accession":"DI-00171","synonyms":"Bare lymphocyte syndrome 2.; Bare lymphocyte syndrome type II.; Bare lymphocyte syndrome type II complementation group A.; Bare lymphocyte syndrome type II complementation group B.; Bare lymphocyte syndrome type II complementation group C.; Bare lymphocyte syndrome type II complementation group D.; Bare lymphocyte syndrome type II complementation group E.; BLS2.; BLS II.; BLS type II.; Hereditary MHC class II deficiency.; HLA class II deficient combined immunodeficiency.; Major histocompatibility complex class II deficiency.; MHC-II deficiency.; SCID HLA class II-negative.; Severe combined immunodeficiency HLA class II-negative.; ","cross_references":"MeSH; D016511.","definition":"An autosomal recessive immunologic disorder characterized by the loss of expression of MHC class II antigens on antigen-presenting cells. Affected individuals present in early infancy with severe recurrent bacterial, viral, fungal and parasitic infections, usually affecting the gastrointestinal and respiratory tracts. ","keywords":"KW-0705:SCID.; "},{"identifier":"MHC class II deficiency 2.","acronym":"MHC2D2.","accession":"DI-06905","synonyms":"Bare lymphocyte syndrome, type II, complementation group B.; ","cross_references":"MeSH; D007153.","definition":"An autosomal recessive disorder characterized by immunodeficiency and recurrent bacterial, viral, fungal and parasitic infections in early infancy. Additional manifestations include failure to thrive, chronic diarrhea, and autoimmune features and allergies that may be present in some patients. Death often occurs in infancy or early childhood. ","keywords":null},{"identifier":"MHC class II deficiency 3.","acronym":"MHC2D3.","accession":"DI-06906","synonyms":"Bare lymphocyte syndrome, type II, complementation group C.; ","cross_references":"MeSH; D007153.","definition":"An autosomal recessive disorder characterized by immunodeficiency and recurrent bacterial, viral, fungal and parasitic infections from birth, usually affecting the respiratory and gastrointestinal tract. Most patients die in infancy or early childhood. ","keywords":null},{"identifier":"MHC class II deficiency 4.","acronym":"MHC2D4.","accession":"DI-06908","synonyms":"Bare lymphocyte syndrome, type II, complementation group D.; ","cross_references":"MeSH; D007153.","definition":"An autosomal recessive disorder characterized by immunodeficiency, failure to thrive, and recurrent bacterial, viral, fungal and parasitic infections from birth, usually affecting the respiratory and gastrointestinal tract. Patients may die in infancy or early childhood. ","keywords":null},{"identifier":"MHC class II deficiency 5.","acronym":"MHC2D5.","accession":"DI-06907","synonyms":"Bare lymphocyte syndrome, type II, complementation group E.; ","cross_references":"MeSH; D007153.","definition":"An autosomal recessive disorder characterized by a defect in constitutive and inducible surface expression of MHC class II molecules on B cells, monocytes, and activated T cells. Affected individuals may present in infancy with infections and hypogammaglobulinemia, but the disease course is mostly benign and patients do not develop severe infections. Some individuals may be asymptomatic. ","keywords":null},{"identifier":"Microangiopathy and leukoencephalopathy, pontine, autosomal dominant.","acronym":"PADMAL.","accession":"DI-05644","synonyms":null,"cross_references":"MeSH; D059345.","definition":"A form of cerebral small vessel disease characterized by the recurrence of ischemic strokes starting in the thirties or forties, and associated with progressive imbalance and cognitive impairment. MRI examination shows ischemic lacunas in the pons and cerebral hemispheres, and diffuse leukoencephalopathy affecting various brain regions. ","keywords":null},{"identifier":"Microcephalic osteodysplastic primordial dwarfism 2.","acronym":"MOPD2.","accession":"DI-01976","synonyms":"Osteodysplastic primordial dwarfism type 2.; ","cross_references":"MedGen; C1859451.","definition":"Adults with this rare inherited condition have an average height of 100 centimeters and a brain size comparable to that of a 3-month-old baby, but are of near-normal intelligence. ","keywords":null},{"identifier":"Microcephaly 10, primary, autosomal recessive.","acronym":"MCPH10.","accession":"DI-03647","synonyms":null,"cross_references":"MeSH; D008831.","definition":"A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH10 is characterized by extremely small head size and death usually by 1 year of age. Neuropathologic examination shows severe loss of neurons as well as neuronal loss of polarity and abnormal dendritic maturation. ","keywords":"KW-0905:Primary microcephaly.; KW-0991:Intellectual disability.; "},{"identifier":"Microcephaly 11, primary, autosomal recessive.","acronym":"MCPH11.","accession":"DI-03890","synonyms":null,"cross_references":"MeSH; D008831.","definition":"A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. ","keywords":"KW-0905:Primary microcephaly.; "}]}