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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=420&ordering=synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=380&ordering=synonyms",
"results": [
{
"identifier": "Aortic aneurysm, familial thoracic 7.",
"acronym": "AAT7.",
"accession": "DI-03062",
"synonyms": "Aortic dissection familial with or without aortic aneurysm.; ",
"cross_references": "MeSH; D017545.",
"definition": "A disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. ",
"keywords": "KW-0993:Aortic aneurysm.; "
},
{
"identifier": "Aortic valve disease 1.",
"acronym": "AOVD1.",
"accession": "DI-01186",
"synonyms": "Aortic valve disease.; BAV.; Bicuspid aortic valve.; Calcific aortic stenosis.; Calcification of aortic valve.; ",
"cross_references": "MeSH; D001024.",
"definition": "A common defect in the aortic valve in which two rather than three leaflets are present. It is often associated with aortic valve calcification, stenosis and insufficiency. In extreme cases, the blood flow may be so restricted that the left ventricle fails to grow, resulting in hypoplastic left heart syndrome. ",
"keywords": null
},
{
"identifier": "Aortic valve disease 3.",
"acronym": "AOVD3.",
"accession": "DI-05612",
"synonyms": "Aortic valve stenosis.; Bicuspid aortic valve.; ",
"cross_references": "MeSH; D001024.",
"definition": "A common defect in the aortic valve in which two rather than three leaflets are present. It is often associated with aortic valve calcification, stenosis and insufficiency. In extreme cases, the blood flow may be so restricted that the left ventricle fails to grow, resulting in hypoplastic left heart syndrome. AOVD3 features are bicuspid aortic valve, aortic valve stenosis, and ascending aortic aneurysm. Some patients have atrial septal defects. AOVD3 inheritance is autosomal dominant with incomplete penetrance. ",
"keywords": null
},
{
"identifier": "Aortic valve disease 2.",
"acronym": "AOVD2.",
"accession": "DI-03529",
"synonyms": "Aortic valve stenosis.; Bicuspid aortic valve.; ",
"cross_references": "MeSH; D001024.",
"definition": "A common defect in the aortic valve in which two rather than three leaflets are present. It is often associated with aortic valve calcification, stenosis and insufficiency. In extreme cases, the blood flow may be so restricted that the left ventricle fails to grow, resulting in hypoplastic left heart syndrome. ",
"keywords": null
},
{
"identifier": "Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia.",
"acronym": "APS1.",
"accession": "DI-01198",
"synonyms": "APECED.; APS-1.; Autoimmune polyendocrine syndrome type I.; Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.; Autoimmune polyendocrinopathy syndrome type I.; Autosomal dominant autoimmune polyendocrinopathy syndrome type I.; Hypoadrenocorticism with hypoparathyroidism and superficial moniliasis.; PGA I.; Polyglandular autoimmune syndrome type I.; Polyglandular deficiency syndrome Persian-Jewish type.; Whitaker syndrome.; ",
"cross_references": "MeSH; D016884.",
"definition": "A rare disease characterized by the combination of chronic mucocutaneous candidiasis, hypoparathyroidism and Addison disease. Symptoms of mucocutaneous candidiasis manifest first, followed by hypotension or fatigue occurring as a result of Addison disease. APS1 is associated with other autoimmune disorders including diabetes mellitus, vitiligo, alopecia, hepatitis, pernicious anemia and primary hypothyroidism. ",
"keywords": null
},
{
"identifier": "Anterior segment dysgenesis 2.",
"acronym": "ASGD2.",
"accession": "DI-01416",
"synonyms": "Aphakia, congenital primary.; Congenital primary aphakia.; CPA.; CPAK.; ",
"cross_references": "MeSH; D001035.",
"definition": "A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. Some ASGD2 patients show congenital primary aphakia, a defect caused by eye development arrest around the 4th-5th week of gestation. This prevents the formation of any lens structure and leads to severe secondary ocular anomalies, including a complete aplasia of the anterior segment of the eye. In contrast, in secondary aphakic eyes, lens induction has occurred, and the lens vesicle has developed to some degree but finally has progressively resorbed perinatally, leading, therefore, to less severe ocular defects. ASGD2 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Mitochondrial complex V deficiency, mitochondrial 2.",
"acronym": "MC5DM2.",
"accession": "DI-03713",
"synonyms": "Apical hypertrophic cardiomyopathy and neuropathy.; Infantile hypertrophic cardiomyopathy.; Mitochondrial complex V (ATP synthase) deficiency mitochondrial type 2.; ",
"cross_references": "MeSH; D028361.",
"definition": "A mitochondrial disorder with heterogeneous clinical manifestations including neuropathy, ataxia, hypertrophic cardiomyopathy. Hypertrophic cardiomyopathy can present with negligible to extreme hypertrophy, minimal to extensive fibrosis and myocyte disarray, absent to severe left ventricular outflow tract obstruction, and distinct septal contours/morphologies with extremely varying clinical course. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Polycystic kidney disease 3 with or without polycystic liver disease.",
"acronym": "PKD3.",
"accession": "DI-04789",
"synonyms": "APKD3.; Polycystic kidney disease, adult, type III.; ",
"cross_references": "MeSH; D007690.",
"definition": "A form of polycystic kidney disease, a disorder characterized by progressive formation and enlargement of cysts in both kidneys, typically leading to end-stage renal disease in adult life. Cysts also occur in other organs, particularly the liver. PKD3 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Linear skin defects with multiple congenital anomalies 2.",
"acronym": "LSDMCA2.",
"accession": "DI-03628",
"synonyms": "Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism and other congenital anomalies.; APLCC.; ",
"cross_references": "MeSH; D000015.",
"definition": "A distinct form of aplasia cutis congenita presenting as multiple linear skin defects on the face and neck associated with poor growth, microcephaly, and facial dysmorphism. Additional features include intellectual disability, nail dystrophy, short stature and cardiac abnormalities. ",
"keywords": null
},
{
"identifier": "ACCES syndrome.",
"acronym": "ACCES.",
"accession": "DI-06471",
"synonyms": "Aplasia cutis congenita with ectrodactyly skeletal syndrome.; ",
"cross_references": "MeSH; D004476.",
"definition": "An autosomal dominant syndrome characterized by a highly variable phenotypic spectrum. Clinical features include aplasia cutis congenita, thin scalp hair, dry skin, dental anomalies, ectrodactyly, and skeletal and neurodevelopmental abnormalities. Craniofacial, cardiac, renal and genital anomalies have also been reported. Affected individuals have early growth deficiencies that improve with age. ",
"keywords": "KW-0038:Ectodermal dysplasia.; "
},
{
"identifier": "Oculoectodermal syndrome.",
"acronym": "OES.",
"accession": "DI-05645",
"synonyms": "Aplasia cutis congenita with epibulbar dermoids.; Toriello-Lacassie-Droste syndrome.; ",
"cross_references": "MeSH; D004476.",
"definition": "A syndrome characterized by the association of epibulbar dermoids and aplasia cutis congenita. Affected individuals show multiple, asymmetric, atrophic, non-scarring and hairless regions that may be associated with hamartomas. Ectodermal changes include linear hyperpigmentation that may follow the lines of Blaschko and rarely epidermal nevus-like lesions. Epibulbar dermoids may be uni-or bilateral. Additional ocular anomalies such as skin tags of the upper eyelid, rarely optic nerve or retinal changes, and microphthalmia can be present. The phenotypic expression is highly variable, and various other abnormalities have occasionally been reported including growth failure, lymphedema, cardiovascular defects, as well as neurodevelopmental symptoms like developmental delay, epilepsy, learning difficulties, and behavioral abnormalities. Benign tumor-like lesions such as nonossifying fibromas of the long bones and giant cell granulomas of the jaws have repeatedly been observed and appear to be age-dependent, becoming a common manifestation in individuals aged 5 years or older. ",
"keywords": "KW-0038:Ectodermal dysplasia.; "
},
{
"identifier": "Epidermolysis bullosa, junctional 5B, with pyloric atresia.",
"acronym": "JEB5B.",
"accession": "DI-00458",
"synonyms": "Aplasia cutis congenita with gastrointestinal atresia.; Carmi syndrome.; Epidermolysis bullosa letalis, with pyloric atresia.; Junctional epidermolysis bullosa with pyloric atresia.; PA-JEB.; ",
"cross_references": "MeSH; D016109.",
"definition": "A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. Junctional epidermolysis bullosa is characterized by blistering that occurs at the level of the lamina lucida in the skin basement membrane. JEB5B is an autosomal recessive, severe, frequently lethal form with variable involvement of skin, nails, mucosa, and with variable effects on the digestive system. It is characterized by mucocutaneous fragility, aplasia cutis congenita, and gastrointestinal atresia, which most commonly affects the pylorus. Pyloric atresia is a primary manifestation rather than a scarring process secondary to epidermolysis bullosa. ",
"keywords": "KW-0263:Epidermolysis bullosa.; "
},
{
"identifier": "Partial acquired lipodystrophy.",
"acronym": "APLD.",
"accession": "DI-02142",
"synonyms": "APL.; Barraquer-Simons syndrome.; Cephalothoracic type lipodystrophy.; Partial progressive lipodystrophy.; ",
"cross_references": "MedGen; C0220989.",
"definition": "A rare childhood disease characterized by loss of subcutaneous fat from the face and trunk. Fat deposition on the pelvic girdle and lower limbs is normal or excessive. Most frequently, onset between 5 and 15 years of age. Most affected subjects are females and some show no other abnormality, but many develop glomerulonephritis, diabetes mellitus, hyperlipidemia, and complement deficiency. Intellectual disability in some cases. APLD is a sporadic disorder of unknown etiology. ",
"keywords": null
},
{
"identifier": "Hyperlipoproteinemia 1B.",
"acronym": "HLPP1B.",
"accession": "DI-01770",
"synonyms": "APOC2 deficiency.; Hyperlipoproteinemia type IB.; ",
"cross_references": "MedGen; C1720779.",
"definition": "Autosomal recessive trait characterized by hypertriglyceridemia, xanthomas, and increased risk of pancreatitis and early atherosclerosis. ",
"keywords": null
},
{
"identifier": "Hypoalphalipoproteinemia, primary, 2.",
"acronym": "FHA2.",
"accession": "DI-05627",
"synonyms": "Apolipoprotein A-I deficiency.; High density lipoprotein deficiency.; Hypoalphalipoproteinemia, primary, 2, autosomal recessive.; ",
"cross_references": "MeSH; D052456.",
"definition": "An autosomal recessive disorder of lipoprotein metabolism, biochemically characterized by severe apoA-I deficiency and severely reduced serum high-density lipoprotein cholesterol (HDL-C). Affected individuals have undetectable serum levels of apoA-I, and develop xanthomas and corneal opacities. The disease is generally associated with atherosclerosis and markedly increased cardiovascular risk. ",
"keywords": null
},
{
"identifier": "Hyperalphalipoproteinemia 2.",
"acronym": "HALP2.",
"accession": "DI-03115",
"synonyms": "Apolipoprotein C-III deficiency.; ",
"cross_references": "MeSH; D006951.",
"definition": "A condition characterized by high levels of high density lipoprotein (HDL) and increased HDL cholesterol levels. ",
"keywords": null
},
{
"identifier": "Stromme syndrome.",
"acronym": "STROMS.",
"accession": "DI-04686",
"synonyms": "Apple peel syndrome with microcephaly and ocular anomalies.; CILD31.; Ciliary dyskinesia, primary, 31.; Jejunal atresia with microcephaly and ocular anomalies.; ",
"cross_references": "MeSH; D008831.",
"definition": "An autosomal recessive congenital disorder characterized by intestinal atresia, ocular anomalies, microcephaly, and renal and cardiac abnormalities in some patients. The disease has features of a ciliopathy, and lethality in early childhood is observed in severe cases. ",
"keywords": "KW-0990:Primary ciliary dyskinesia.; "
},
{
"identifier": "Spinocerebellar ataxia, autosomal recessive, 8.",
"acronym": "SCAR8.",
"accession": "DI-01062",
"synonyms": "ARCA1.; Ataxia recessive of Beauce.; Autosomal recessive cerebellar ataxia type 1.; ",
"cross_references": "MeSH; D013132.",
"definition": "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR8 is an autosomal recessive form. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Coenzyme Q10 deficiency, primary, 4.",
"acronym": "COQ10D4.",
"accession": "DI-01063",
"synonyms": "ARCA2.; Autosomal recessive cerebellar ataxia type 2.; SCAR9.; Spinocerebellar ataxia autosomal recessive 9.; ",
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive disorder characterized by childhood-onset of cerebellar ataxia and exercise intolerance. Patient manifest gait ataxia and cerebellar atrophy with slow progression. Additional features include brisk tendon reflexes and Hoffmann sign, variable psychomotor retardation and variable seizures. ",
"keywords": "KW-0523:Neurodegeneration.; KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Cutis laxa, autosomal recessive, 2A.",
"acronym": "ARCL2A.",
"accession": "DI-01461",
"synonyms": "ARCL2.; CL type IIA.; Cutis laxa, Debre type.; Cutis laxa autosomal recessive type IIA.; Cutis laxa with bone dystrophy.; Cutis laxa with congenital disorder of glycosylation.; Cutis laxa with growth and developmental delay.; Cutis laxa with joint laxity and retarded development.; ",
"cross_references": "MeSH; D003483.",
"definition": "A disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, a general connective tissue weakness, and varying degrees of growth and developmental delay and neurological abnormalities. Some affected individuals develop seizures and mental deterioration later in life, whereas the skin phenotype tends to become milder with age. At the molecular level, an abnormal glycosylation of serum proteins is observed in many cases. ",
"keywords": null
}
]
}