Human Disease List
GET /api/human_diseases/?format=api&offset=2760&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2780&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2740&ordering=-identifier", "results": [ { "identifier": "Megalencephalic leukoencephalopathy with subcortical cysts 3.", "acronym": "MLC3.", "accession": "DI-06722", "synonyms": null, "cross_references": "MeSH; D056784.", "definition": "An autosomal dominant disorder characterized by increased head circumference apparent in infancy, followed by progressive motor and cognitive decline in early childhood. Affected individuals either do not achieve walking or lose independent ambulation in the first or second decades. Cognitive impairment is variable and accompanied by poor speech and dysarthria. Most patients have early-onset seizures, which may be mild or refractory. Brain imaging shows unremitting megalencephalic leukoencephalopathy with subcortical cysts and swelling of the cerebral white matter. ", "keywords": null }, { "identifier": "Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without impaired intellectual development.", "acronym": "MLC2B.", "accession": "DI-03114", "synonyms": "Leukoencephalopathy, megalencephalic, with subcortical cysts, 2B.; ", "cross_references": "MeSH; D056784.", "definition": "A neurodegenerative disorder characterized by infantile-onset of macrocephaly and mildly delayed motor development associated with white-matter abnormalities on brain magnetic resonance imaging. The phenotype is milder that MLC2A, with better preserved cerebellar white matter and no subcortical cysts outside the temporal region. On follow-up, patients show normal or almost normal motor function. Some patients have normal intelligence, whereas others have a significant cognitive deficiency. ", "keywords": null }, { "identifier": "Megalencephalic leukoencephalopathy with subcortical cysts 2A.", "acronym": "MLC2A.", "accession": "DI-03113", "synonyms": null, "cross_references": "MeSH; D056784.", "definition": "A neurodegenerative disorder characterized by infantile-onset macrocephaly and later onset of motor deterioration, with ataxia and spasticity, seizures, and cognitive decline of variable severity. The brain appears swollen on magnetic resonance imaging with white-matter abnormalities and subcortical cysts, in all stages of the disease. ", "keywords": null }, { "identifier": "Megalencephalic leukoencephalopathy with subcortical cysts 1.", "acronym": "MLC1.", "accession": "DI-01960", "synonyms": "Leukoencephalopathy with swelling and cysts.; LVM.; Vacuolating megalencephalic leukoencephalopathy with subcortical cysts.; Van der Knaap disease.; VL.; ", "cross_references": "MeSH; D056784.", "definition": "A syndrome of cerebral leukoencephalopathy and megalencephaly characterized by ataxia, spasticity, seizures, delay in motor development and mild intellectual disability. The brain appears swollen on magnetic resonance imaging, with diffuse white-matter abnormalities and the invariable presence of subcortical cysts in frontal and temporal lobes. ", "keywords": null }, { "identifier": "Megacystis-microcolon-intestinal hypoperistalsis syndrome 5.", "acronym": "MMIHS5.", "accession": "DI-06166", "synonyms": null, "cross_references": "MeSH; D007418.", "definition": "A form of megacystis-microcolon-intestinal hypoperistalsis syndrome, a congenital visceral myopathy primarily affecting females, and characterized by loss of smooth muscle contraction in the bladder and intestine. Affected individuals present at birth with functional obstruction of intestine, microcolon, dilation of bladder, and secondary hydronephrosis. The majority of cases have a fatal outcome due to malnutrition and sepsis, followed by multiorgan failure. MMIHS5 is an autosomal dominant form with significant inter- and intrafamilial variability. ", "keywords": null }, { "identifier": "Megacystis-microcolon-intestinal hypoperistalsis syndrome 4.", "acronym": "MMIHS4.", "accession": "DI-06130", "synonyms": null, "cross_references": "MeSH; D007418.", "definition": "A form of megacystis-microcolon-intestinal hypoperistalsis syndrome, a congenital visceral myopathy primarily affecting females, and characterized by loss of smooth muscle contraction in the bladder and intestine. Affected individuals present at birth with functional obstruction of intestine, microcolon, dilation of bladder, and secondary hydronephrosis. The majority of cases have a fatal outcome due to malnutrition and sepsis, followed by multiorgan failure. MMIHS4 inheritance is autosomal recessive. ", "keywords": null }, { "identifier": "Megacystis-microcolon-intestinal hypoperistalsis syndrome 3.", "acronym": "MMIHS3.", "accession": "DI-06129", "synonyms": null, "cross_references": "MeSH; D007418.", "definition": "A form of megacystis-microcolon-intestinal hypoperistalsis syndrome, a congenital visceral myopathy primarily affecting females, and characterized by loss of smooth muscle contraction in the bladder and intestine. Affected individuals present at birth with functional obstruction of intestine, microcolon, dilation of bladder, and secondary hydronephrosis. The majority of cases have a fatal outcome due to malnutrition and sepsis, followed by multiorgan failure. MMIHS3 inheritance is autosomal recessive. ", "keywords": null }, { "identifier": "Megacystis-microcolon-intestinal hypoperistalsis syndrome 2.", "acronym": "MMIHS2.", "accession": "DI-06120", "synonyms": null, "cross_references": "MeSH; D007418.", "definition": "A form of megacystis-microcolon-intestinal hypoperistalsis syndrome, a congenital visceral myopathy primarily affecting females, and characterized by loss of smooth muscle contraction in the bladder and intestine. Affected individuals present at birth with functional obstruction of intestine, microcolon, dilation of bladder, and secondary hydronephrosis. The majority of cases have a fatal outcome due to malnutrition and sepsis, followed by multiorgan failure. MMIHS2 inheritance is autosomal recessive. ", "keywords": null }, { "identifier": "Megacystis-microcolon-intestinal hypoperistalsis syndrome.", "acronym": "MMIHS.", "accession": "DI-05709", "synonyms": "Berdon syndrome.; Visceral myopathy.; ", "cross_references": "MeSH; D007418.", "definition": "A form of megacystis-microcolon-intestinal hypoperistalsis syndrome, a congenital visceral myopathy primarily affecting females, and characterized by loss of smooth muscle contraction in the bladder and intestine. Affected individuals present at birth with functional obstruction of intestine, microcolon, dilation of bladder, and secondary hydronephrosis. The majority of cases have a fatal outcome due to malnutrition and sepsis, followed by multiorgan failure. MMIHS inheritance is autosomal recessive. ", "keywords": null }, { "identifier": "Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations.", "acronym": "MCCCHCM.", "accession": "DI-05456", "synonyms": null, "cross_references": "MeSH; D065886.", "definition": "An autosomal dominant neurodevelopmental disorder with onset in infancy. MCCCHCM is characterized by global developmental delay, impaired intellectual development, poor or absent speech, unsteady gait, ataxia, inability to walk, and variable brain abnormalities. Seizures and autistic features are observed in some patients. Brain imaging findings include an enlarged corpus callosum in the absence of megalencephaly, cerebellar hypoplasia, ventricular dilation, gyral abnormalities, and cortical malformations. ", "keywords": "KW-0991:Intellectual disability.; " }, { "identifier": "Megabladder, congenital.", "acronym": "MGBL.", "accession": "DI-05721", "synonyms": null, "cross_references": "MeSH; D014564.", "definition": "An autosomal dominant congenital anomaly characterized by a massively dilated urinary bladder with disrupted smooth muscle in the bladder wall. MGBL is a sex-limited trait with 95% male predominance, and incomplete penetrance. Affected males frequently die in utero. ", "keywords": null }, { "identifier": "Meester-Loeys syndrome.", "acronym": "MRLS.", "accession": "DI-04917", "synonyms": null, "cross_references": "MeSH; D017545.", "definition": "An X-linked, thoracic aortic aneurysm syndrome characterized by early- onset, severe aortic aneurysm and dissection. Other recurrent findings include hypertelorism, pectus deformity, joint hypermobility, contractures, and mild skeletal dysplasia. ", "keywords": "KW-0993:Aortic aneurysm.; " }, { "identifier": "Medulloblastoma.", "acronym": "MDB.", "accession": "DI-01958", "synonyms": null, "cross_references": "MedGen; C1334970.", "definition": "Malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children. ", "keywords": null }, { "identifier": "Medullary thyroid carcinoma.", "acronym": "MTC.", "accession": "DI-01957", "synonyms": null, "cross_references": "MedGen; C1833921.", "definition": "Rare tumor derived from the C cells of the thyroid. Three hereditary forms are known, that are transmitted in an autosomal dominant fashion: (a) multiple neoplasia type 2A (MEN2A), (b) multiple neoplasia type IIB (MEN2B) and (c) familial MTC (FMTC), which occurs in 25-30% of MTC cases and where MTC is the only clinical manifestation. ", "keywords": null }, { "identifier": "MEDNIK syndrome.", "acronym": "MEDNIK.", "accession": "DI-03642", "synonyms": "EKV3.; Erythrokeratodermia variabilis 3.; Erythrokeratodermia variabilis Kamouraska type.; Impaired intellectual development, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma.; ", "cross_references": "MeSH; D056266.", "definition": "A disorder characterized by erythematous skin lesions and hyperkeratosis, severe psychomotor retardation, peripheral neuropathy, sensorineural hearing loss, together with elevated very-long-chain fatty acids and severe congenital diarrhea. ", "keywords": "KW-0209:Deafness.; KW-0622:Neuropathy.; KW-0977:Ichthyosis.; KW-0991:Intellectual disability.; " }, { "identifier": "Meconium ileus.", "acronym": "MECIL.", "accession": "DI-03452", "synonyms": null, "cross_references": "MeSH; D045823.", "definition": "A condition characterized by intestinal obstruction due to inspissated meconium in the distal ileum and cecum, which develops in utero and presents shortly after birth as a failure to pass meconium. Meconium ileus is a known clinical manifestation of cystic fibrosis. ", "keywords": null }, { "identifier": "Meckel syndrome 9.", "acronym": "MKS9.", "accession": "DI-03221", "synonyms": null, "cross_references": "MeSH; D007690.", "definition": "A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. ", "keywords": "KW-0981:Meckel syndrome.; " }, { "identifier": "Meckel syndrome 8.", "acronym": "MKS8.", "accession": "DI-03026", "synonyms": null, "cross_references": "MeSH; D007690.", "definition": "A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. ", "keywords": "KW-0981:Meckel syndrome.; " }, { "identifier": "Meckel syndrome 7.", "acronym": "MKS7.", "accession": "DI-02861", "synonyms": null, "cross_references": "MeSH; D007690.", "definition": "A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. ", "keywords": "KW-0981:Meckel syndrome.; " }, { "identifier": "Meckel syndrome 6.", "acronym": "MKS6.", "accession": "DI-00704", "synonyms": null, "cross_references": "MeSH; D007690.", "definition": "A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. ", "keywords": "KW-0981:Meckel syndrome.; " } ] }