Human Disease List
GET /api/human_diseases/?format=api&offset=2720&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2740&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2700&ordering=-identifier", "results": [ { "identifier": "Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression.", "acronym": "MECREN.", "accession": "DI-05563", "synonyms": null, "cross_references": "MeSH; D017237.", "definition": "An autosomal recessive disease characterized by muscle weakness, developmental delay, lactic acidosis, and encephalopathy. The severity of the clinical manifestations is highly variable even within affected individuals of the same family, ranging from asymptomatic lactic acidosis to severe developmental regression, epilepsy, intellectual disability, metabolic crisis, and multiorgan involvement. ", "keywords": null }, { "identifier": "Metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration.", "acronym": "MECRCN.", "accession": "DI-04674", "synonyms": "Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration.; ", "cross_references": "MeSH; D019636.", "definition": "An autosomal recessive disorder characterized by metabolic encephalomyopathic crises, hypoglycemia, hyperammonemia, episodic rhabdomyolysis, susceptibility to life-threatening cardiac tachyarrhythmias, developmental delay, intellectual disability, and mild diffuse cerebral atrophy. ", "keywords": "KW-0523:Neurodegeneration.; " }, { "identifier": "Mesothelioma, malignant.", "acronym": "MESOM.", "accession": "DI-03213", "synonyms": null, "cross_references": "MeSH; D008654.", "definition": "An aggressive neoplasm of the serosal lining of the chest. It appears as broad sheets of cells, with some regions containing spindle-shaped, sarcoma-like cells and other regions showing adenomatous patterns. Pleural mesotheliomas have been linked to exposure to asbestos. ", "keywords": null }, { "identifier": "Merosin-deficient congenital muscular dystrophy 1A.", "acronym": "MDC1A.", "accession": "DI-01969", "synonyms": null, "cross_references": "MedGen; C1842898.", "definition": "Characterized by difficulty walking, hypotonia, proximal weakness, hyporeflexia, and white matter hypodensity on MRI. ", "keywords": null }, { "identifier": "Menkes disease.", "acronym": "MNK.", "accession": "DI-00706", "synonyms": "Kinky hair disease.; Menkes syndrome.; Steely hair disease.; ", "cross_references": "MeSH; D007706.", "definition": "An X-linked recessive disorder of copper metabolism characterized by generalized copper deficiency. MNKD results in progressive neurodegeneration and connective-tissue disturbances: focal cerebral and cerebellar degeneration, early growth retardation, peculiar hair, hypopigmentation, cutis laxa, vascular complications and death in early childhood. The clinical features result from the dysfunction of several copper-dependent enzymes. A mild form of the disease has been described, in which cerebellar ataxia and moderate developmental delay predominate. ", "keywords": "KW-0523:Neurodegeneration.; " }, { "identifier": "Menke-Hennekam syndrome 2.", "acronym": "MKHK2.", "accession": "DI-05488", "synonyms": null, "cross_references": "MeSH; D000015.", "definition": "A form of Menke-Hennekam syndrome, a congenital autosomal dominant disease characterized by developmental delay, growth retardation, and craniofacial dysmorphism. Patients have intellectual disability of variable severity, speech delay, autistic behavior, short stature and microcephaly. Main facial characteristics include short palpebral fissures, telecanthi, depressed nasal ridge, short nose, anteverted nares, short columella and long philtrum. ", "keywords": "KW-0991:Intellectual disability.; " }, { "identifier": "Menke-Hennekam syndrome 1.", "acronym": "MKHK1.", "accession": "DI-05487", "synonyms": null, "cross_references": "MeSH; D000015.", "definition": "A form of Menke-Hennekam syndrome, a congenital autosomal dominant disease characterized by developmental delay, growth retardation, and craniofacial dysmorphism. Patients have intellectual disability of variable severity, speech delay, autistic behavior, short stature and microcephaly. Main facial characteristics include short palpebral fissures, telecanthi, depressed nasal ridge, short nose, anteverted nares, short columella and long philtrum. ", "keywords": "KW-0991:Intellectual disability.; " }, { "identifier": "Meningioma.", "acronym": "MNGMA.", "accession": "DI-04248", "synonyms": "Familial meningioma.; ", "cross_references": "MeSH; D008579.", "definition": "A common neoplasm of the central nervous system derived from arachnoidal cells. The majority of meningiomas are well differentiated vascular tumors which grow slowly and have a low potential to be invasive, although malignant subtypes occur. Most cases are sporadic. Familial occurrence of meningioma is rare. ", "keywords": null }, { "identifier": "MEND syndrome.", "acronym": "MEND.", "accession": "DI-04527", "synonyms": "Male EBP disorder with neurological defects.; ", "cross_references": "MeSH; D043202.", "definition": "An X-linked recessive disorder associated with a defect in sterol biosynthesis. Disease manifestations and severity are highly variable. Clinical features include intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities. ", "keywords": null }, { "identifier": "Melorheostosis, isolated.", "acronym": "MEL.", "accession": "DI-01963", "synonyms": null, "cross_references": "MeSH; D008557.", "definition": "A sclerosing bone disorder characterized by hyperostosis of the cortex of tubular bones, frequently involving one limb. The lesions may be accompanied by abnormalities of adjacent soft tissue, joint contractures, sclerodermatous skin lesions, muscle atrophy, or hemangioma. ", "keywords": null }, { "identifier": "Melnick-Needles syndrome.", "acronym": "MNS.", "accession": "DI-01962", "synonyms": null, "cross_references": "MedGen; C0025237.", "definition": "Severe congenital bone disorder characterized by typical facies (exophthalmos, full cheeks, micrognathia and malalignment of teeth), flaring of the metaphyses of long bones, s-like curvature of bones of legs, irregular constrictions in the ribs, and sclerosis of base of skull. ", "keywords": null }, { "identifier": "Melanosis, neurocutaneous.", "acronym": "NCMS.", "accession": "DI-04100", "synonyms": "Neuromelanosis.; ", "cross_references": "MeSH; D020752.", "definition": "A rare congenital disease characterized by the presence of giant or multiple melanocytic nevi on the skin, foci of melanin-producing cells within the brain parenchyma, and infiltration of leptomeninges by abnormal melanin deposits. Neurologic abnormalities include seizures, hydrocephalus, arachnoid cysts, tumors, and syringomyelia. Some patients may develop malignant melanoma. ", "keywords": null }, { "identifier": "Melanoma, uveal, 2.", "acronym": "UVM2.", "accession": "DI-06494", "synonyms": null, "cross_references": "MeSH; D008545.", "definition": "Most common intraocular malignancy, arising from melanocytes in the iris, ciliary body, or choroid. Metastases develop in more than 30% of case patients, almost invariably in the liver, with poor prognosis. ", "keywords": null }, { "identifier": "Melanoma, uveal, 1.", "acronym": "UVM1.", "accession": "DI-06493", "synonyms": null, "cross_references": "MeSH; D008545.", "definition": "Most common intraocular malignancy, arising from melanocytes in the iris, ciliary body, or choroid. Metastases develop in more than 30% of case patients, almost invariably in the liver, with poor prognosis. ", "keywords": null }, { "identifier": "Melanoma, cutaneous malignant 9.", "acronym": "CMM9.", "accession": "DI-03701", "synonyms": "Cutaneous malignant melanoma 9.; ", "cross_references": "MeSH; D008545.", "definition": "A malignant neoplasm of melanocytes, arising de novo or from a pre- existing benign nevus, which occurs most often in the skin but may also involve other sites. ", "keywords": null }, { "identifier": "Melanoma, cutaneous malignant 8.", "acronym": "CMM8.", "accession": "DI-03341", "synonyms": "Cutaneous malignant melanoma 8.; Susceptibility to melanoma and renal cell carcinoma.; ", "cross_references": "MeSH; D008545.", "definition": "A malignant neoplasm of melanocytes, arising de novo or from a pre- existing benign nevus, which occurs most often in the skin but may also involve other sites. ", "keywords": null }, { "identifier": "Melanoma, cutaneous malignant 6.", "acronym": "CMM6.", "accession": "DI-03126", "synonyms": "Cutaneous malignant melanoma 6.; ", "cross_references": "MeSH; D008545.", "definition": "A malignant neoplasm of melanocytes, arising de novo or from a pre- existing benign nevus, which occurs most often in the skin but may also involve other sites. ", "keywords": null }, { "identifier": "Melanoma, cutaneous malignant 5.", "acronym": "CMM5.", "accession": "DI-02516", "synonyms": "Cutaneous malignant melanoma 5.; ", "cross_references": "MeSH; D008545.", "definition": "A malignant neoplasm of melanocytes, arising de novo or from a pre- existing benign nevus, which occurs most often in the skin but may also involve other sites. ", "keywords": null }, { "identifier": "Melanoma, cutaneous malignant 3.", "acronym": "CMM3.", "accession": "DI-01460", "synonyms": "Cutaneous malignant melanoma 3.; ", "cross_references": "MeSH; D008545.", "definition": "A malignant neoplasm of melanocytes, arising de novo or from a pre- existing benign nevus, which occurs most often in the skin but may also involve other sites. ", "keywords": null }, { "identifier": "Melanoma, cutaneous malignant 2.", "acronym": "CMM2.", "accession": "DI-01459", "synonyms": "Cutaneous malignant melanoma 2.; ", "cross_references": "MeSH; D008545.", "definition": "A malignant neoplasm of melanocytes, arising de novo or from a pre- existing benign nevus, which occurs most often in the skin but may also involve other sites. ", "keywords": null } ] }