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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=980&ordering=-synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=940&ordering=-synonyms",
"results": [
{
"identifier": "Ciliary dyskinesia, primary, 48, without situs inversus.",
"acronym": "CILD48.",
"accession": "DI-06504",
"synonyms": null,
"cross_references": "MeSH; D002925.",
"definition": "A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD48 is an autosomal recessive form. No situs abnormalities have been observed. ",
"keywords": "KW-0990:Primary ciliary dyskinesia.; "
},
{
"identifier": "Cholestasis of pregnancy, intrahepatic 3.",
"acronym": "ICP3.",
"accession": "DI-03634",
"synonyms": null,
"cross_references": "MeSH; D002780.",
"definition": "A liver disorder of pregnancy. It presents during the second or, more commonly, the third trimester of pregnancy with intense pruritus which becomes more severe with advancing gestation and cholestasis. It causes fetal distress, spontaneous premature delivery and intrauterine death. Patients have spontaneous and progressive disappearance of cholestasis after delivery. Cholestasis results from abnormal biliary transport from the liver into the small intestine. ",
"keywords": "KW-0988:Intrahepatic cholestasis.; "
},
{
"identifier": "Deafness, autosomal recessive, 121.",
"acronym": "DFNB121.",
"accession": "DI-06784",
"synonyms": null,
"cross_references": "MeSH; D034381.",
"definition": "A form of non-syndromic deafness characterized by congenital or prelingual onset of moderate sensorineural hearing loss. Sensorineural hearing loss results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Chondrodysplasia Blomstrand type.",
"acronym": "BOCD.",
"accession": "DI-01343",
"synonyms": null,
"cross_references": "MedGen; C1859148.",
"definition": "Severe skeletal dysplasia. ",
"keywords": null
},
{
"identifier": "Corticosteroid-binding globulin deficiency.",
"acronym": "CBG deficiency.",
"accession": "DI-01433",
"synonyms": null,
"cross_references": "MedGen; C1969107.",
"definition": "Extremely rare hereditary disorder characterized by reduced corticosteroid-binding capacity with normal or low plasma corticosteroid-binding globulin concentration, and normal or low basal cortisol levels associated with hypo/hypertension and muscle fatigue. ",
"keywords": null
},
{
"identifier": "Autoimmune disease, multisystem, infantile-onset, 1.",
"acronym": "ADMIO1.",
"accession": "DI-04194",
"synonyms": null,
"cross_references": "MeSH; D001327.",
"definition": "A disorder characterized by early childhood onset of a spectrum of autoimmune manifestations affecting multiple organs, including insulin-dependent diabetes mellitus and autoimmune enteropathy or celiac disease. Other features include short stature, non-specific dermatitis, hypothyroidism, autoimmune arthritis, and delayed puberty. ",
"keywords": "KW-0219:Diabetes mellitus.; KW-0242:Dwarfism.; "
},
{
"identifier": "Autoimmune disease, multisystem, infantile-onset, 2.",
"acronym": "ADMIO2.",
"accession": "DI-04749",
"synonyms": null,
"cross_references": "MeSH; D001327.",
"definition": "An autosomal recessive, autoimmune disorder characterized by systemic manifestations including blistering skin disease, uncontrollable bullous pemphigoid, inflammatory colitis, autoimmune hypothyroidism, proteinuria and nephrotic syndrome. ",
"keywords": null
},
{
"identifier": "Deafness, autosomal recessive, 30.",
"acronym": "DFNB30.",
"accession": "DI-00870",
"synonyms": null,
"cross_references": "MeSH; D003638.",
"definition": "A form of non-syndromic deafness characterized by bilateral progressive hearing loss, which first affects the high frequencies. Hearing loss begins in the second decade, and by age 50 is severe in high and middle frequencies and moderate at low frequencies. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Amyloidosis, hereditary systemic 5.",
"acronym": "AMYLD5.",
"accession": "DI-06895",
"synonyms": null,
"cross_references": "MeSH; D028226.",
"definition": "A form of hereditary systemic amyloidosis, a disorder characterized by amyloid deposition in multiple tissues resulting in a wide clinical spectrum. AMYLD5 primarily affects the viscera, and the predominant clinical features are renal dysfunction of varying severity, and intra-abdominal bleeding. Inheritance is autosomal dominant. ",
"keywords": "KW-1008:Amyloidosis.; "
},
{
"identifier": "Cutis laxa, autosomal dominant, 2.",
"acronym": "ADCL2.",
"accession": "DI-03317",
"synonyms": null,
"cross_references": "MeSH; D003483.",
"definition": "A connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. Additional variable clinical features are gastrointestinal diverticula, hernia, and genital prolapse. Rare manifestations are pulmonary artery stenosis, aortic aneurysm, bronchiectasis, and emphysema. ",
"keywords": null
},
{
"identifier": "Amyloidosis, hereditary systemic 6.",
"acronym": "AMYLD6.",
"accession": "DI-06896",
"synonyms": null,
"cross_references": "MeSH; D028226.",
"definition": "A form of hereditary systemic amyloidosis, a disorder characterized by amyloid deposition in multiple tissues resulting in a wide clinical spectrum. AMYLD6 is mainly characterized by gastrointestinal and cardiac symptoms. Neurologic involvement, sicca syndrome, and carpal tunnel syndrome may also be present. Inheritance is autosomal dominant. ",
"keywords": "KW-1008:Amyloidosis.; "
},
{
"identifier": "Deafness, autosomal recessive, 115.",
"acronym": "DFNB115.",
"accession": "DI-05584",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic deafness characterized by severe sensorineural hearing impairment in early childhood. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Autoimmune interstitial lung, joint, and kidney disease.",
"acronym": "AILJK.",
"accession": "DI-04454",
"synonyms": null,
"cross_references": "MeSH; D001327.",
"definition": "An autoimmune disease characterized by inflammatory arthritis, interstitial lung disease, and immune complex-mediated renal disease. ",
"keywords": null
},
{
"identifier": "Cornelia de Lange syndrome 4 with or without midline brain defects.",
"acronym": "CDLS4.",
"accession": "DI-03491",
"synonyms": null,
"cross_references": "MeSH; D003635.",
"definition": "A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. It is characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Char syndrome.",
"acronym": "CHAR.",
"accession": "DI-00294",
"synonyms": null,
"cross_references": "MeSH; D004374.",
"definition": "An autosomal dominant disorder characterized by patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies. ",
"keywords": null
},
{
"identifier": "Achondroplasia.",
"acronym": "ACH.",
"accession": "DI-00021",
"synonyms": null,
"cross_references": "MeSH; D000130.",
"definition": "A frequent form of short-limb dwarfism. It is characterized by a long, narrow trunk, short extremities, particularly in the proximal (rhizomelic) segments, a large head with frontal bossing, hypoplasia of the midface and a trident configuration of the hands. ACH is an autosomal dominant disease. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Congenital myopathy 2B, severe infantile, autosomal recessive.",
"acronym": "CMYP2B.",
"accession": "DI-06621",
"synonyms": null,
"cross_references": "MeSH; D020512.",
"definition": "An autosomal recessive skeletal muscle disorder characterized by severe hypotonia with lack of spontaneous movements and respiratory insufficiency, usually leading to death in infancy or early childhood. Longer survival has been reported. ",
"keywords": null
},
{
"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": "Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia.",
"acronym": "ALS15.",
"accession": "DI-03271",
"synonyms": null,
"cross_references": "MeSH; D000690.",
"definition": "A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. Patients with ALS15 may develop frontotemporal dementia. ",
"keywords": "KW-0036:Amyotrophic lateral sclerosis.; "
},
{
"identifier": "Erythrocytosis, familial, 4.",
"acronym": "ECYT4.",
"accession": "DI-00482",
"synonyms": null,
"cross_references": "MeSH; D011086.",
"definition": "An autosomal dominant disorder characterized by elevated serum hemoglobin and hematocrit, and normal platelet and leukocyte counts. ",
"keywords": "KW-0985:Congenital erythrocytosis.; "
}
]
}