Human Disease List
GET /api/human_diseases/?format=api&offset=2700&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2720&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2680&ordering=-identifier", "results": [ { "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 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 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, cblF type.", "acronym": "MAHCF.", "accession": "DI-00746", "synonyms": "cblF.; Cobalamin F disease.; Methylcobalamin deficiency tape F.; Methylmalonic acidemia and homocystinuria cblF type.; Methylmalonic aciduria due to vitamin B12-release defect.; Vitamin B12 lysosomal release defect.; Vitamin B12 storage defect.; ", "cross_references": "MeSH; D008661.", "definition": "An autosomal recessive disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). It is due to accumulation of free cobalamin in lysosomes, thus hindering its conversion to cofactors. Clinical features include developmental delay, stomatitis, glossitis, seizures and methylmalonic aciduria responsive to vitamin B12. ", "keywords": null }, { "identifier": "Methylmalonic aciduria and homocystinuria, cblD type.", "acronym": "MAHCD.", "accession": "DI-00745", "synonyms": "Homocystinuria cblD variant 1.; Methylmalonic acidemia and homocystinuria cblD type.; Methylmalonic aciduria and homocystinuria cblD-combined.; Methylmalonic aciduria and homocystinuria cblD original.; Methylmalonic aciduria cblD variant 2.; ", "cross_references": "MeSH; D008661.", "definition": "An autosomal recessive disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Clinical features include developmental delay, hyotonia, intellectual disability, seizures, megaloblastic anemia. Some patients manifest combined methylmalonic aciduria and homocystinuria (referred to as cblD original), some have only isolated homocystinuria (cblD variant 1), and others have only methylmalonic aciduria (cblD variant 2). ", "keywords": null }, { "identifier": "Methylmalonic aciduria and homocystinuria, cblC type.", "acronym": "MAHCC.", "accession": "DI-00744", "synonyms": "Methylmalonic acidemia and homocystinuria cblC type.; Methylmalonic aciduria and homocystinuria vitamin B12-responsive.; Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase.; ", "cross_references": "MeSH; D008661.", "definition": "An autosomal recessive disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood. ", "keywords": null }, { "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": "Methionine adenosyltransferase deficiency.", "acronym": "MATD.", "accession": "DI-02745", "synonyms": "Isolated persistent hypermethioninemia.; MAT deficiency.; MAT I/III deficiency.; ", "cross_references": "MeSH; D000592.", "definition": "An inborn error of metabolism resulting in isolated hypermethioninemia. Most patients have no clinical abnormalities, although some neurologic symptoms may be present in rare cases with severe loss of methionine adenosyltransferase activity. ", "keywords": null }, { "identifier": "Methemoglobinemia CYB5R3-related.", "acronym": "METHB-CYB5R3.", "accession": "DI-01723", "synonyms": "Methemoglobinemia congenital autosomal recessive.; Methemoglobinemia due to deficiency of methemoglobin reductase.; Methemoglobinemia type I.; Methemoglobinemia type II.; NADH-cytochrome b5 reductase deficiency.; NADH-cytochrome b5 reductase deficiency type I.; NADH-cytochrome b5 reductase deficiency type II.; NADH-dependent methemoglobin reductase deficiency.; ", "cross_references": "MeSH; D008708.", "definition": "A form of methemoglobinemia, a hematologic disease characterized by the presence of excessive amounts of methemoglobin in blood cells, resulting in decreased oxygen carrying capacity of the blood, cyanosis and hypoxia. There are two types of methemoglobinemia CYB5R3-related. In type 1, the defect affects the soluble form of the enzyme, is restricted to red blood cells, and causes well-tolerated methemoglobinemia. In type 2, the defect affects both the soluble and microsomal forms of the enzyme and is thus generalized, affecting red cells, leukocytes and all body tissues. Type 2 methemoglobinemia is associated with mental deficiency and other neurologic symptoms. ", "keywords": null }, { "identifier": "Methemoglobinemia and ambiguous genitalia.", "acronym": "METAG.", "accession": "DI-02720", "synonyms": "Isolated 17,20-lyase deficiency, pure.; Methemoglobinemia due to deficiency of cytochrome b5.; Methemoglobinemia type IV.; ", "cross_references": "MeSH; D008708.", "definition": "An autosomal recessive disorder characterized by sex steroid deficiency but normal glucocorticoid and mineralocorticoid reserve, male undermasculinization, absent or disturbed pubertal development, decreased levels of erythrocyte cytochrome B5, and excessive amounts of methemoglobin in blood cells resulting in cyanosis and hypoxia. ", "keywords": null }, { "identifier": "Metatropic dysplasia.", "acronym": "MTD.", "accession": "DI-02481", "synonyms": "Metatropic dwarfism.; ", "cross_references": "MeSH; D001848.", "definition": "A severe spondyloepimetaphyseal dysplasia characterized by short limbs with limitation and enlargement of joints and usually severe kyphoscoliosis. Radiologic features include severe platyspondyly, severe metaphyseal enlargement and shortening of long bones. ", "keywords": "KW-0242:Dwarfism.; " }, { "identifier": "Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly.", "acronym": "MDMHB.", "accession": "DI-03699", "synonyms": null, "cross_references": "MeSH; D001848.", "definition": "An autosomal dominant bone dysplasia characterized by metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, variable brachydactyly, and dystrophic teeth. ", "keywords": null }, { "identifier": "Metaphyseal dysplasia, Spahr type.", "acronym": "MDST.", "accession": "DI-04373", "synonyms": "Metaphyseal chondrodysplasia, Spahr type.; Spahr type metaphyseal chondrodysplasia.; ", "cross_references": "MeSH; D010009.", "definition": "An autosomal recessive, rare disease characterized by moderate short stature, mild genua vara, and radiographic signs of metaphyseal dysplasia, but no biochemical signs of rickets. ", "keywords": "KW-0242:Dwarfism.; " }, { "identifier": "Metaphyseal chondrodysplasia, Jansen type.", "acronym": "MCDJ.", "accession": "DI-01847", "synonyms": "Metaphyseal chondrodysplasia, Murk Jansen type.; ", "cross_references": "MeSH; D010009.", "definition": "A rare autosomal dominant disorder characterized by a short-limbed dwarfism associated with hypercalcemia and normal or low serum concentrations of the two parathyroid hormones. ", "keywords": "KW-0242:Dwarfism.; " }, { "identifier": "Metaphyseal anadysplasia 2.", "acronym": "MANDP2.", "accession": "DI-02636", "synonyms": null, "cross_references": "MeSH; D001848.", "definition": "A bone development disorder characterized by skeletal anomalies that resolve spontaneously with age. Clinical characteristics are evident from the first months of life and include slight shortness of stature and a mild varus deformity of the legs. Patients attain a normal stature in adolescence and show improvement or complete resolution of varus deformity of the legs and rhizomelic micromelia. ", "keywords": null }, { "identifier": "Metaphyseal anadysplasia 1.", "acronym": "MANDP1.", "accession": "DI-02635", "synonyms": null, "cross_references": "MeSH; D001848.", "definition": "A bone development disorder characterized by skeletal anomalies that resolve spontaneously with age. Clinical characteristics are evident from the first months of life and include slight shortness of stature and a mild varus deformity of the legs. Patients attain a normal stature in adolescence and show improvement or complete resolution of varus deformity of the legs and rhizomelic micromelia. ", "keywords": null }, { "identifier": "Metachromatic leukodystrophy due to saposin B deficiency.", "acronym": "MLDSAPB.", "accession": "DI-02744", "synonyms": "Activator deficiency.; Metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency.; Saposin B deficiency.; ", "cross_references": "MeSH; D007966.", "definition": "A form of metachromatic leukodystrophy biochemically characterized by tissue accumulation of cerebroside-3-sulfate, saposin B deficiency, and normal arylsulfatase A activity. Clinical manifestations include periventricular white matter abnormalities, demyelination, and peripheral neuropathy. Additional neurological features include dysarthria, ataxic gait, psychomotor regression, seizures, cognitive decline and spastic quadriparesis. ", "keywords": "KW-0478:Metachromatic leukodystrophy.; " }, { "identifier": "Metachromatic leukodystrophy.", "acronym": "MLD.", "accession": "DI-00652", "synonyms": "ARSA deficiency.; Arylsulfatase A deficiency.; Cerebral sclerosis, diffuse, metachromatic form.; Cerebroside sulfatase deficiency.; Metachromatic leukodystrophy, adult.; Metachromatic leukodystrophy, juvenile.; Metachromatic leukodystrophy, late infantile.; Pseudoarylsulfatase A deficiency.; Sulfatide lipidosis.; ", "cross_references": "MeSH; D007966.", "definition": "An autosomal recessive disease caused by abnormal intralysosomal accumulation of cerebroside-3-sulfate in central and peripheral nervous systems, as well as other organs. MLD is clinically characterized by leukodystrophy, progressive demyelination and a variety of neurological symptoms, including gait disturbances, ataxias, optical atrophy, dementia, seizures, and spastic tetraparesis. Decreased arylsulfatase A activity is detected in urine, leukocytes, and fibroblasts of affected individuals. Several forms of the disease can be distinguished according to the age at onset and disease severity: late infantile, juvenile and adult forms, partial cerebroside sulfate deficiency, and pseudoarylsulfatase A deficiency. Individuals with pseudoarylsulfatase A deficiency have low arylsulfatase A activity but lack neurological manifestations and are apparently healthy. ", "keywords": "KW-0478:Metachromatic leukodystrophy.; " }, { "identifier": "Metachondromatosis.", "acronym": "MC.", "accession": "DI-02832", "synonyms": null, "cross_references": "MeSH; D018210.", "definition": "A skeletal disorder with radiologic features of both multiple exostoses and Ollier disease, characterized by the presence of exostoses, commonly of the bones of the hands and feet, and enchondromas of the metaphyses of long bones and iliac crest. ", "keywords": null }, { "identifier": "Metacarpal 4-5 fusion.", "acronym": "MF4.", "accession": "DI-03931", "synonyms": null, "cross_references": "MeSH; D006228.", "definition": "A rare congenital malformation of the hand characterized by the partial or complete fusion of the fourth and fifth metacarpals. The anomaly occurs as an isolated trait or part of a syndrome. ", "keywords": null } ] }