Human Disease List
GET /api/human_diseases/?format=api&offset=2360&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2380&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2340&ordering=-identifier", "results": [ { "identifier": "Multiple system atrophy 1.", "acronym": "MSA1.", "accession": "DI-03867", "synonyms": null, "cross_references": "MeSH; D019578.", "definition": "A progressive neurodegenerative disorder clinically characterized by parkinsonism, cerebellar ataxia, and autonomic, urogenital, and pyramidal dysfunction in various combinations. Pathologically, it is characterized by degeneration of striatonigral and olivopontocerebellar structures, and glial cytoplasmic inclusions that consist of abnormally phosphorylated alpha-synuclein or tau. ", "keywords": "KW-0523:Neurodegeneration.; KW-0908:Parkinsonism.; " }, { "identifier": "Multiple synostoses syndrome 4.", "acronym": "SYNS4.", "accession": "DI-05210", "synonyms": null, "cross_references": "MeSH; D013580.", "definition": "A bone disease characterized by multiple progressive joint fusions that commonly involve proximal interphalangeal, tarsal-carpal, humeroradial and cervical spine joints. Additional features can include progressive conductive deafness and facial dysmorphism. SYNS4 inheritance is autosomal dominant. ", "keywords": null }, { "identifier": "Multiple synostoses syndrome 3.", "acronym": "SYNS3.", "accession": "DI-02564", "synonyms": null, "cross_references": "MeSH; D013580.", "definition": "A bone disease characterized by multiple progressive joint fusions that commonly involve proximal interphalangeal, tarsal-carpal, humeroradial and cervical spine joints. Additional features can include progressive conductive deafness and facial dysmorphism. ", "keywords": null }, { "identifier": "Multiple synostoses syndrome 2.", "acronym": "SYNS2.", "accession": "DI-02011", "synonyms": null, "cross_references": "MeSH; D013580.", "definition": "A bone disease characterized by multiple progressive joint fusions that commonly involve proximal interphalangeal, tarsal-carpal, humeroradial and cervical spine joints. Additional features can include progressive conductive deafness and facial dysmorphism. ", "keywords": null }, { "identifier": "Multiple synostoses syndrome 1.", "acronym": "SYNS1.", "accession": "DI-02010", "synonyms": "Deafness-symphalangism syndrome of Herrmann.; Facioaudiosymphalangism syndrome.; Symphalangism-brachydactyly syndrome.; Synostoses multiple with brachydactyly.; WL syndrome.; ", "cross_references": "MeSH; D013580.", "definition": "A bone disease characterized by multiple progressive joint fusions that commonly involve proximal interphalangeal, tarsal-carpal, humeroradial and cervical spine joints. Additional features can include progressive conductive deafness and facial dysmorphism. ", "keywords": "KW-0209:Deafness.; " }, { "identifier": "Multiple sulfatase deficiency.", "acronym": "MSD.", "accession": "DI-00791", "synonyms": "Mucosulfatidosis.; Sulfatidosis juvenile Austin type.; ", "cross_references": "MeSH; D052517.", "definition": "A clinically and biochemically heterogeneous disorder caused by the simultaneous impairment of all sulfatases, due to defective post- translational modification and activation. It combines features of individual sulfatase deficiencies such as metachromatic leukodystrophy, mucopolysaccharidosis, chondrodysplasia punctata, hydrocephalus, ichthyosis, neurologic deterioration and developmental delay. ", "keywords": "KW-0478:Metachromatic leukodystrophy.; KW-0977:Ichthyosis.; " }, { "identifier": "Multiple self-healing squamous epithelioma.", "acronym": "MSSE.", "accession": "DI-03159", "synonyms": "ESS1.; Ferguson-Smith disease.; Ferguson-Smith type epithelioma.; Self-healing squamous epithelioma type 1.; ", "cross_references": "MeSH; D007636.", "definition": "A disorder characterized by multiple skin tumors that undergo spontaneous regression. Tumors appear most often on sun-exposed regions, are locally invasive, and undergo spontaneous resolution over a period of months leaving pitted scars. ", "keywords": null }, { "identifier": "Multiple sclerosis 5.", "acronym": "MS5.", "accession": "DI-03521", "synonyms": null, "cross_references": "MeSH; D009103.", "definition": "A multifactorial, inflammatory, demyelinating disease of the central nervous system. Sclerotic lesions are characterized by perivascular infiltration of monocytes and lymphocytes and appear as indurated areas in pathologic specimens (sclerosis in plaques). The pathological mechanism is regarded as an autoimmune attack of the myelin sheath, mediated by both cellular and humoral immunity. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia and bladder dysfunction. Genetic and environmental factors influence susceptibility to the disease. ", "keywords": null }, { "identifier": "Multiple sclerosis 3.", "acronym": "MS3.", "accession": "DI-02605", "synonyms": null, "cross_references": "MeSH; D009103.", "definition": "A multifactorial, inflammatory, demyelinating disease of the central nervous system. Sclerotic lesions are characterized by perivascular infiltration of monocytes and lymphocytes and appear as indurated areas in pathologic specimens (sclerosis in plaques). The pathological mechanism is regarded as an autoimmune attack of the myelin sheath, mediated by both cellular and humoral immunity. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia and bladder dysfunction. Genetic and environmental factors influence susceptibility to the disease. ", "keywords": null }, { "identifier": "Multiple sclerosis.", "acronym": "MS.", "accession": "DI-02604", "synonyms": null, "cross_references": "MeSH; D009103.", "definition": "A multifactorial, inflammatory, demyelinating disease of the central nervous system. Sclerotic lesions are characterized by perivascular infiltration of monocytes and lymphocytes and appear as indurated areas in pathologic specimens (sclerosis in plaques). The pathological mechanism is regarded as an autoimmune attack of the myelin sheath, mediated by both cellular and humoral immunity. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia and bladder dysfunction. Genetic and environmental factors influence susceptibility to the disease. ", "keywords": null }, { "identifier": "Multiple pterygium syndrome, lethal type.", "acronym": "LMPS.", "accession": "DI-01895", "synonyms": null, "cross_references": "MedGen; C1854678.", "definition": "Multiple pterygia are found infrequently in children with arthrogryposis and in fetuses with fetal akinesia syndrome. In lethal multiple pterygium syndrome there is intrauterine growth retardation, multiple pterygia, and flexion contractures causing severe arthrogryposis and fetal akinesia. Subcutaneous edema can be severe, causing fetal hydrops with cystic hygroma and lung hypoplasia. Oligohydramnios and facial anomalies are frequent. ", "keywords": null }, { "identifier": "Multiple pterygium syndrome, Escobar variant.", "acronym": "EVMPS.", "accession": "DI-01536", "synonyms": "Escobar syndrome.; Multiple pterygium syndrome.; Multiple pterygium syndrome, non-lethal type.; Nonlethal type multiple pterygium syndrome.; Pterygium colli syndrome.; Pterygium syndrome.; Pterygium universale.; ", "cross_references": "MedGen; CN031762.", "definition": "Non-lethal form of arthrogryposis multiplex congenita. It is an autosomal recessive condition characterized by excessive webbing (pterygia), congenital contractures (arthrogryposis), and scoliosis. Variable other features include intrauterine death, congenital respiratory distress, short stature, faciocranial dysmorphism, ptosis, low-set ears, arachnodactyly and cryptorchism in males. Congenital contractures are common and may be caused by reduced fetal movements at sensitive times of development. Possible causes of decreased fetal mobility include space constraints such as oligohydramnion, drugs, metabolic conditions or neuromuscular disorders including myasthenia gravis. ", "keywords": null }, { "identifier": "Multiple neoplasia 2B.", "acronym": "MEN2B.", "accession": "DI-02009", "synonyms": null, "cross_references": "MedGen; C0025269.", "definition": "Uncommon inherited cancer syndrome characterized by predisposition to MTC and phaeochromocytoma which is associated with marfanoid habitus, mucosal neuromas, skeletal and ophthalmic abnormalities, and ganglioneuromas of the intestine tract. Then the disease progresses rapidly with the development of metastatic MTC and a pheochromocytome in 50% of cases. ", "keywords": null }, { "identifier": "Multiple neoplasia 2A.", "acronym": "MEN2A.", "accession": "DI-02008", "synonyms": "MEN2.; Multiple neoplasia type 2.; ", "cross_references": "MedGen; C0025268.", "definition": "The most frequent form of medullary thyroid cancer (MTC). It is an inherited cancer syndrome characterized by MTC, phaeochromocytoma and/or hyperparathyroidism. ", "keywords": null }, { "identifier": "Multiple myeloma.", "acronym": "MM.", "accession": "DI-02700", "synonyms": null, "cross_references": "MeSH; D009101.", "definition": "A malignant tumor of plasma cells usually arising in the bone marrow and characterized by diffuse involvement of the skeletal system, hyperglobulinemia, Bence-Jones proteinuria and anemia. Complications of multiple myeloma are bone pain, hypercalcemia, renal failure and spinal cord compression. The aberrant antibodies that are produced lead to impaired humoral immunity and patients have a high prevalence of infection. Amyloidosis may develop in some patients. Multiple myeloma is part of a spectrum of diseases ranging from monoclonal gammopathy of unknown significance (MGUS) to plasma cell leukemia. ", "keywords": null }, { "identifier": "Multiple mitochondrial dysfunctions syndrome 7.", "acronym": "MMDS7.", "accession": "DI-06705", "synonyms": null, "cross_references": "MeSH; D028361.", "definition": "An autosomal recessive disorder biochemically characterized by glycine accumulation in body fluids, including the cerebrospinal fluid, with an elevated cerebrospinal fluid/plasma glycine ratio. The broad clinical spectrum ranges from neonatal fatal glycine encephalopathy to an attenuated phenotype of developmental delay, limited verbal communication, behavioral problems, seizures and variable movement problems. Death in infancy or early childhood may occur. ", "keywords": "KW-0523:Neurodegeneration.; " }, { "identifier": "Multiple mitochondrial dysfunctions syndrome 6.", "acronym": "MMDS6.", "accession": "DI-05241", "synonyms": null, "cross_references": "MeSH; D028361.", "definition": "An autosomal recessive, neurodegenerative disorder characterized by basal ganglia lesions, cerebellar atrophy, and neurologic regression in the first year of life. Common features include truncal hypotonia, lack of independent ambulation, poor speech, intellectual disability, and motor abnormalities, such as ataxia, dystonia, and spasticity. ", "keywords": "KW-0523:Neurodegeneration.; " }, { "identifier": "Multiple mitochondrial dysfunctions syndrome 5.", "acronym": "MMDS5.", "accession": "DI-05070", "synonyms": null, "cross_references": "MeSH; D028361.", "definition": "An autosomal recessive, severe disorder characterized by early onset neurological deterioration, seizures, cerebral and cerebellar leukodystrophy, dysmyelination, cortical migrational abnormalities, lactic acidosis and early demise. ", "keywords": null }, { "identifier": "Multiple mitochondrial dysfunctions syndrome 4.", "acronym": "MMDS4.", "accession": "DI-04429", "synonyms": null, "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. ", "keywords": null }, { "identifier": "Multiple mitochondrial dysfunctions syndrome 3.", "acronym": "MMDS3.", "accession": "DI-03800", "synonyms": null, "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 } ] }