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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1220&ordering=-synonyms",
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"results": [
{
"identifier": "Coloboma, ocular, autosomal recessive.",
"acronym": "COAR.",
"accession": "DI-04214",
"synonyms": null,
"cross_references": "MeSH; D003103.",
"definition": "An ocular anomaly resulting from abnormal morphogenesis of the optic cup and stalk, and incomplete fusion of the fetal intra-ocular fissure during gestation. The clinical presentation is variable. Some individuals may present with minimal defects in the anterior iris leaf without other ocular defects. More complex malformations create a combination of iris, uveoretinal and/or optic nerve defects without or with microphthalmia or even anophthalmia. ",
"keywords": null
},
{
"identifier": "Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development.",
"acronym": "COB1.",
"accession": "DI-04066",
"synonyms": null,
"cross_references": "MeSH; D034381.",
"definition": "An autosomal dominant disease characterized by uveal colobomata, microphthalmia, cataract and cleft lip/palate. Considerable variability is observed among patients, uveal colobomata being the most constant feature. Some patients manifest intellectual disability of varying degree and/or sensorineural, mid-frequency hearing loss. ",
"keywords": null
},
{
"identifier": "Bethlem myopathy 1B.",
"acronym": "BTHLM1B.",
"accession": "DI-06833",
"synonyms": null,
"cross_references": "MeSH; D009136.",
"definition": "A form of Bethlem myopathy, a slowly progressive muscular dystrophy characterized by joint contractures, most frequently affecting the elbows and ankles, and muscle weakness and wasting involving the proximal and extensor muscles more than the distal and flexor ones. The clinical onset more often occurs in childhood or adulthood, but it can be prenatal with decreased fetal movements or neonatal with hypotonia. The hallmark of Bethlem myopathy is long finger flexion contractures. Inheritance can be autosomal dominant or autosomal recessive. ",
"keywords": "KW-0912:Congenital muscular dystrophy.; "
},
{
"identifier": "Aneurysm, intracranial berry, 12.",
"acronym": "ANIB12.",
"accession": "DI-05735",
"synonyms": null,
"cross_references": "MeSH; D002532.",
"definition": "A form of cerebral aneurysm, a focal abnormal dilatation of a blood vessel in the brain. Berry intracranial aneurysms, also known as saccular aneurysms, have a characteristic rounded shape and account for the vast majority of intracranial aneurysms. They are the most common cause of non-traumatic subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage. ",
"keywords": null
},
{
"identifier": "Bethlem myopathy 1C.",
"acronym": "BTHLM1C.",
"accession": "DI-06834",
"synonyms": null,
"cross_references": "MeSH; D009136.",
"definition": "A form of Bethlem myopathy, a slowly progressive muscular dystrophy characterized by joint contractures, most frequently affecting the elbows and ankles, and muscle weakness and wasting involving the proximal and extensor muscles more than the distal and flexor ones. The clinical onset more often occurs in childhood or adulthood, but it can be prenatal with decreased fetal movements or neonatal with hypotonia. The hallmark of Bethlem myopathy is long finger flexion contractures. BTHLM1C inheritance is autosomal dominant. ",
"keywords": "KW-0912:Congenital muscular dystrophy.; "
},
{
"identifier": "Cortisone reductase deficiency 2.",
"acronym": "CORTRD2.",
"accession": "DI-05184",
"synonyms": null,
"cross_references": "MeSH; D008661.",
"definition": "An autosomal dominant error of cortisone metabolism characterized by a failure to regenerate cortisol from cortisone, resulting in increased cortisol clearance, activation of the hypothalamic- pituitary axis and ACTH-mediated adrenal androgen excess. Clinical features include hyperandrogenism resulting in hirsutism, oligo- amenorrhea, and infertility in females and premature pseudopuberty in males. ",
"keywords": null
},
{
"identifier": "Diamond-Blackfan anemia 7.",
"acronym": "DBA7.",
"accession": "DI-00397",
"synonyms": null,
"cross_references": "MeSH; D029503.",
"definition": "A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond- Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre- Robin syndrome and cleft palate), thumb and urogenital anomalies. ",
"keywords": "KW-1024:Diamond-Blackfan anemia.; "
},
{
"identifier": "Dystonia 26, myoclonic.",
"acronym": "DYT26.",
"accession": "DI-04408",
"synonyms": null,
"cross_references": "MeSH; D004421.",
"definition": "A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT26 is an autosomal dominant, progressive disorder characterized by a combination of non-epileptic myoclonic jerks and dystonia. Affected individuals manifest myoclonic jerks in the upper limbs during the first or second decade of life, and later develop dystonia with predominant involvement of the craniocervical regions and sometimes the trunk and/or lower limbs. ",
"keywords": "KW-1023:Dystonia.; "
},
{
"identifier": "Combined oxidative phosphorylation deficiency 14.",
"acronym": "COXPD14.",
"accession": "DI-03630",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "A severe multisystemic autosomal recessive disorder characterized by neonatal onset of global developmental delay, refractory seizures, and lactic acidosis. Biochemical studies show deficiencies of multiple mitochondrial respiratory enzymes. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Cortical dysplasia, complex, with other brain malformations 5.",
"acronym": "CDCBM5.",
"accession": "DI-04097",
"synonyms": null,
"cross_references": "MeSH; D054081.",
"definition": "A disorder of aberrant neuronal migration and disturbed axonal guidance. Clinical features include seizures, global developmental delay, and various brain malformations such as a diffuse simplified gyral pattern with reduced volume of white matter, globular basal ganglia, thin and dysmorphic corpus callosum, mild brainstem hypoplasia with a flat pons, mild cerebellar vermis hypoplasia, and mildly enlarged posterior fossa. ",
"keywords": null
},
{
"identifier": "Epilepsy, progressive myoclonic 7.",
"acronym": "EPM7.",
"accession": "DI-04310",
"synonyms": null,
"cross_references": "MeSH; D020191.",
"definition": "A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM7 is an autosomal dominant form characterized by myoclonic epilepsy apparent in the first or second decades of life. Cognitive function may decline in some patients. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0887:Epilepsy.; "
},
{
"identifier": "Cortical dysplasia, complex, with other brain malformations 4.",
"acronym": "CDCBM4.",
"accession": "DI-03885",
"synonyms": null,
"cross_references": "MeSH; D054081.",
"definition": "A disorder of aberrant neuronal migration and disturbed axonal guidance. Clinical features include early-onset seizures, microcephaly, spastic tetraplegia, and various malformations of cortical development, such as agyria, posterior or frontal pachygyria, thick cortex, and subcortical band heterotopia and thin corpus callosum in some patients. ",
"keywords": "KW-0451:Lissencephaly.; "
},
{
"identifier": "Combined cellular and humoral immune defects with granulomas.",
"acronym": "CHIDG.",
"accession": "DI-01360",
"synonyms": null,
"cross_references": "MedGen; C2673536.",
"definition": "Immunodeficiency disease with granulomas in the skin, mucous membranes, and internal organs. Other characteristics include hypogammaglobulinemia, a diminished number of T and B-cells, and sparse thymic tissue on ultrasonography. ",
"keywords": null
},
{
"identifier": "Combined D-2- and L-2-hydroxyglutaric aciduria.",
"acronym": "D2L2AD.",
"accession": "DI-03710",
"synonyms": null,
"cross_references": "MeSH; D020739.",
"definition": "An autosomal recessive neurometabolic disorder characterized by neonatal-onset encephalopathy with severe muscular weakness, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death. Brain imaging shows abnormalities including enlarged ventricles, delayed myelination, and germinal layer cysts. ",
"keywords": null
},
{
"identifier": "Acrodermatitis enteropathica, zinc-deficiency type.",
"acronym": "AEZ.",
"accession": "DI-00027",
"synonyms": null,
"cross_references": "MeSH; D000169.",
"definition": "A rare autosomal recessive disease caused by the inability to absorb sufficient zinc. The clinical features are growth retardation, immune- system dysfunction, alopecia, severe dermatitis, diarrhea and occasionally mental disorders. ",
"keywords": null
},
{
"identifier": "Combined deficiency of vitamin K-dependent clotting factors 2.",
"acronym": "VKCFD2.",
"accession": "DI-01362",
"synonyms": null,
"cross_references": "MedGen; C1843832.",
"definition": "VKCFD leads to a bleeding tendency that is usually reversed by oral administration of vitamin K. ",
"keywords": null
},
{
"identifier": "Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia.",
"acronym": "CIMAH.",
"accession": "DI-05147",
"synonyms": null,
"cross_references": "MeSH; D008661.",
"definition": "An autosomal recessive disorder due to an inborn error of folate metabolism. Variable clinical manifestations include hemolytic uremic syndrome, macrocytosis, epilepsy, hearing loss, retinopathy, mild intellectual disability, and lymphopenia. ",
"keywords": null
},
{
"identifier": "Combined lipase deficiency.",
"acronym": "CLD.",
"accession": "DI-01363",
"synonyms": null,
"cross_references": "MedGen; C1855498.",
"definition": "Characterized by repeated episodes of pancreatitis, tuberous xanthomas and lipodystrophy and is caused by deficiency of both lipoprotein lipase (LPL) and hepatic triglyceride lipase (HTGL). ",
"keywords": null
},
{
"identifier": "Combined low LDL and fibrinogen.",
"acronym": "CLDLFIB.",
"accession": "DI-06676",
"synonyms": null,
"cross_references": "MeSH; D008661.",
"definition": "An autosomal recessive condition characterized by low plasma LDL- cholesterol and fibrinogen levels, and associated with a decreased risk of coronary artery disease. ",
"keywords": null
},
{
"identifier": "Hyperproinsulinemia.",
"acronym": "HPRI.",
"accession": "DI-01585",
"synonyms": null,
"cross_references": "MeSH; D003920.",
"definition": "An autosomal dominant condition characterized by elevated levels of serum proinsulin-like material. ",
"keywords": null
}
]
}