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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=360",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=320",
"results": [
{
"identifier": "Aromatase deficiency.",
"acronym": "AROD.",
"accession": "DI-00134",
"synonyms": "Pseudohermaphroditism female due to placental aromatase deficiency.; ",
"cross_references": "MeSH; D058489.",
"definition": "A rare disease in which fetal androgens are not converted into estrogens due to placental aromatase deficiency. Thus, pregnant women exhibit a hirsutism, which spontaneously resolves after post-partum. At birth, female babies present with pseudohermaphroditism due to virilization of extern genital organs. In adult females, manifestations include delay of puberty, breast hypoplasia and primary amenorrhoea with multicystic ovaries. ",
"keywords": "KW-0657:Pseudohermaphroditism.; "
},
{
"identifier": "Aromatase excess syndrome.",
"acronym": "AEXS.",
"accession": "DI-01569",
"synonyms": "Familial gynecomastia.; Familial gynecomastia due to increased aromatase activity.; Hereditary gynecomastia.; Increased aromatase activity.; ",
"cross_references": "MeSH; D006177.",
"definition": "An autosomal dominant disorder characterized by increased extraglandular aromatization of steroids that presents with heterosexual precocity in males and isosexual precocity in females. ",
"keywords": null
},
{
"identifier": "Aromatic L-amino-acid decarboxylase deficiency.",
"acronym": "AADCD.",
"accession": "DI-00135",
"synonyms": "Aromatic-L-amino-acid decarboxylase deficiency.; DDC deficiency.; DOPA decarboxylase deficiency.; ",
"cross_references": "MeSH; D000592.",
"definition": "An inborn error in neurotransmitter metabolism that leads to combined serotonin and catecholamine deficiency. It causes developmental and psychomotor delay, poor feeding, lethargy, ptosis, intermittent hypothermia, gastrointestinal disturbances. The onset is early in infancy and inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities.",
"acronym": "ARCME.",
"accession": "DI-06765",
"synonyms": null,
"cross_references": "MeSH; D009202.",
"definition": "An autosomal recessive disorder characterized by life-threatening dilated cardiomyopathy in early childhood, with or without features of inflammation on cardiac histology. There is also a variably expressed ectodermal phenotype, including wooly or wiry hair, wedged teeth, xerotic skin, and dystrophic nails. Cleft lip and palate and corneal abnormalities have also been observed. ",
"keywords": "KW-0038:Ectodermal dysplasia.; KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Arrhythmogenic right ventricular dysplasia 11, familial, and mild palmoplantar keratoderma and woolly hair.",
"acronym": "ARVD11PK.",
"accession": "DI-04742",
"synonyms": "Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair.; ARVD and mild palmoplantar keratoderma with or without woolly hair.; ",
"cross_references": "MeSH; D019571.",
"definition": "An autosomal recessive disease characterized by arrhythmogenic cardiomyopathy in association with palmoplantar keratoderma and woolly hair. ",
"keywords": "KW-0122:Cardiomyopathy.; KW-1007:Palmoplantar keratoderma.; "
},
{
"identifier": "Arrhythmogenic right ventricular dysplasia, familial, 1.",
"acronym": "ARVD1.",
"accession": "DI-01549",
"synonyms": "Arrhythmogenic right ventricular cardiomyopathy 1.; ARVC1.; Cardiomyopathy right ventricular dilated.; UHL anomaly.; ",
"cross_references": "MeSH; D019571.",
"definition": "A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Arrhythmogenic right ventricular dysplasia, familial, 10.",
"acronym": "ARVD10.",
"accession": "DI-01554",
"synonyms": "Arrhythmogenic right ventricular cardiomyopathy 10.; ARVC10.; ",
"cross_references": "MeSH; D019571.",
"definition": "A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Arrhythmogenic right ventricular dysplasia, familial, 11.",
"acronym": "ARVD11.",
"accession": "DI-01555",
"synonyms": "Arrhythmogenic right ventricular cardiomyopathy 11.; ARVC11.; ",
"cross_references": "MeSH; D019571.",
"definition": "A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Arrhythmogenic right ventricular dysplasia, familial, 12.",
"acronym": "ARVD12.",
"accession": "DI-01556",
"synonyms": "Arrhythmogenic right ventricular cardiomyopathy 12.; ARVC12.; ",
"cross_references": "MeSH; D019571.",
"definition": "A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Arrhythmogenic right ventricular dysplasia, familial, 13.",
"acronym": "ARVD13.",
"accession": "DI-04014",
"synonyms": "Arrhythmogenic right ventricular cardiomyopathy 13.; ARVC13.; ",
"cross_references": "MeSH; D019571.",
"definition": "A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Arrhythmogenic right ventricular dysplasia, familial, 14.",
"acronym": "ARVD14.",
"accession": "DI-05863",
"synonyms": null,
"cross_references": "MeSH; D019571.",
"definition": "A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Arrhythmogenic right ventricular dysplasia, familial, 15.",
"acronym": "ARVD15.",
"accession": "DI-06708",
"synonyms": "Arrhythmogenic right ventricular cardiomyopathy, familial, 15.; ",
"cross_references": "MeSH; D019571.",
"definition": "A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias. ARVD15 inheritance is autosomal dominant. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Arrhythmogenic right ventricular dysplasia, familial, 5.",
"acronym": "ARVD5.",
"accession": "DI-01551",
"synonyms": "Arrhythmogenic right ventricular cardiomyopathy 5.; ARVC5.; ",
"cross_references": "MeSH; D019571.",
"definition": "A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Arrhythmogenic right ventricular dysplasia, familial, 8.",
"acronym": "ARVD8.",
"accession": "DI-01552",
"synonyms": "Arrhythmogenic right ventricular cardiomyopathy 8.; ARVC8.; ",
"cross_references": "MeSH; D019571.",
"definition": "A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Arrhythmogenic right ventricular dysplasia, familial, 9.",
"acronym": "ARVD9.",
"accession": "DI-01553",
"synonyms": "Arrhythmogenic right ventricular cardiomyopathy 9.; ARVC9.; ",
"cross_references": "MeSH; D019571.",
"definition": "A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Arterial calcification of infancy, generalized, 1.",
"acronym": "GACI1.",
"accession": "DI-01806",
"synonyms": "GACI.; Generalized arterial calcification of infancy.; Idiopathic infantile arterial calcification.; IIAC.; Occlusive infantile arteriopathy.; ",
"cross_references": "MeSH; D061205.",
"definition": "A severe autosomal recessive disorder characterized by calcification of the internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation. The disorder is often fatal within the first 6 months of life because of myocardial ischemia resulting in refractory heart failure. ",
"keywords": null
},
{
"identifier": "Arterial calcification of infancy, generalized, 2.",
"acronym": "GACI2.",
"accession": "DI-03382",
"synonyms": null,
"cross_references": "MeSH; D061205.",
"definition": "A severe autosomal recessive disorder characterized by calcification of the internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation. The disorder is often fatal within the first 6 months of life because of myocardial ischemia resulting in refractory heart failure. ",
"keywords": null
},
{
"identifier": "Arterial tortuosity syndrome.",
"acronym": "ATORS.",
"accession": "DI-01190",
"synonyms": "Arterial tortuosity.; ",
"cross_references": "MeSH; D014652.",
"definition": "An autosomal recessive disorder characterized by tortuosity and elongation of major arteries, often resulting in death at young age. Other typical features include aneurysms of large arteries and stenosis of the pulmonary artery, in association with facial features and several connective tissue manifestations such as soft skin and joint laxity. Histopathological findings include fragmentation of elastic fibers in the tunica media of large arteries. ",
"keywords": null
},
{
"identifier": "Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development.",
"acronym": "ACCIID.",
"accession": "DI-05453",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal dominant disease characterized by moderate to severe intellectual disability, craniosynostosis, cleft palate, micrognathia, arthrogryposis, and short stature. Some patients may present bone abnormalities and generalized seizures. ",
"keywords": "KW-0242:Dwarfism.; KW-0989:Craniosynostosis.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Arthrogryposis, distal, 11.",
"acronym": "DA11.",
"accession": "DI-06491",
"synonyms": null,
"cross_references": "MeSH; D001176.",
"definition": "A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA11 is an autosomal dominant form characterized mainly by camptodactyly. Other features include absent flexion creases and limited forearm supination. ",
"keywords": null
}
]
}