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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=840&ordering=-synonyms",
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"results": [
{
"identifier": "Cardiomyopathy, familial hypertrophic, 24.",
"acronym": "CMH24.",
"accession": "DI-04407",
"synonyms": null,
"cross_references": "MeSH; D024741.",
"definition": "A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Ataxia, intention tremor, and hypotonia syndrome, childhood-onset.",
"acronym": "ATITHS.",
"accession": "DI-06132",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, mildly impaired intellectual development with speech delay or learning disabilities, delayed walking due to ataxia, intention tremor, and hypotonia apparent from early childhood. Brain imaging shows cerebellar atrophy in some patients. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Cardiomyopathy, familial hypertrophic, 26.",
"acronym": "CMH26.",
"accession": "DI-04771",
"synonyms": null,
"cross_references": "MeSH; D024741.",
"definition": "A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Cardiomyopathy, familial hypertrophic, 27.",
"acronym": "CMH27.",
"accession": "DI-05290",
"synonyms": null,
"cross_references": "MeSH; D024741.",
"definition": "A form of hypertrophic cardiomyopathy, a heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. CMH27 is a severe, early- onset form with features of hypertrophic and dilated cardiomyopathy. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Cardiomyopathy, familial hypertrophic, 28.",
"acronym": "CMH28.",
"accession": "DI-06150",
"synonyms": null,
"cross_references": "MeSH; D024741.",
"definition": "A form of hypertrophic cardiomyopathy, a heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. CMH28 is an autosomal dominant form with incomplete penetrance. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies.",
"acronym": "CMH29.",
"accession": "DI-06602",
"synonyms": null,
"cross_references": "MeSH; D024741.",
"definition": "A form of hypertrophic cardiomyopathy, a heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. CMH29 is an autosomal recessive form associated with a poor prognosis due to lethal arrhythmias and cardiac failure. Cardiac muscle biopsies show intermyofibrillar accumulation of glycogen and polyglucosan bodies within cardiomyocytes. Intermyofibrillar glycogen accumulation is also present in skeletal muscle. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Cardiomyopathy, familial hypertrophic, 3.",
"acronym": "CMH3.",
"accession": "DI-00235",
"synonyms": null,
"cross_references": "MeSH; D024741.",
"definition": "A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Cardiomyopathy, familial hypertrophic, 30, atrial.",
"acronym": "CMH30.",
"accession": "DI-06853",
"synonyms": null,
"cross_references": "MeSH; D009202.",
"definition": "An autosomal recessive heart disease characterized by enlarged and thickened left atrium, left atrial fibrosis, atrial arrhythmias, and hypertension. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Cardiomyopathy, familial hypertrophic, 4.",
"acronym": "CMH4.",
"accession": "DI-00236",
"synonyms": null,
"cross_references": "MeSH; D024741.",
"definition": "A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome.",
"acronym": "CANVAS.",
"accession": "DI-05548",
"synonyms": null,
"cross_references": "MeSH; D009461.",
"definition": "An autosomal recessive neurologic disease characterized by imbalance, cerebellar ataxia, impaired vestibular function, and non-length- dependent sensory deficit. ",
"keywords": "KW-0622:Neuropathy.; "
},
{
"identifier": "Cardiomyopathy, familial hypertrophic, 7.",
"acronym": "CMH7.",
"accession": "DI-00237",
"synonyms": null,
"cross_references": "MeSH; D024741.",
"definition": "A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Adams-Oliver syndrome 4.",
"acronym": "AOS4.",
"accession": "DI-03817",
"synonyms": null,
"cross_references": "MeSH; D017880.",
"definition": "A form of Adams-Oliver syndrome, a disorder characterized by the congenital absence of skin (aplasia cutis congenita) in combination with transverse limb defects. Aplasia cutis congenita can be located anywhere on the body, but in the vast majority of the cases, it is present on the posterior parietal region where it is often associated with an underlying defect of the parietal bones. Limb abnormalities are typically limb truncation defects affecting the distal phalanges or entire digits (true ectrodactyly). Only rarely, metatarsals/metacarpals or more proximal limb structures are also affected. Apart from transverse limb defects, syndactyly, most commonly of second and third toes, can also be observed. The clinical features are highly variable and can also include cardiovascular malformations, brain abnormalities and vascular defects such as cutis marmorata and dilated scalp veins. ",
"keywords": null
},
{
"identifier": "Cardiomyopathy, familial hypertrophic, 9.",
"acronym": "CMH9.",
"accession": "DI-00239",
"synonyms": null,
"cross_references": "MeSH; D024741.",
"definition": "A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Cardiomyopathy, familial restrictive 1.",
"acronym": "RCM1.",
"accession": "DI-00246",
"synonyms": null,
"cross_references": "MeSH; D002313.",
"definition": "A heart disorder characterized by impaired filling of the ventricles with reduced diastolic volume, in the presence of normal or near normal wall thickness and systolic function. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Cardiomyopathy, familial restrictive 3.",
"acronym": "RCM3.",
"accession": "DI-00247",
"synonyms": null,
"cross_references": "MeSH; D002313.",
"definition": "A heart disorder characterized by impaired filling of the ventricles with reduced diastolic volume, in the presence of normal or near normal wall thickness and systolic function. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Cardiomyopathy, familial restrictive 4.",
"acronym": "RCM4.",
"accession": "DI-03732",
"synonyms": null,
"cross_references": "MeSH; D002313.",
"definition": "A heart disorder characterized by impaired filling of the ventricles with reduced diastolic volume, in the presence of normal or near normal wall thickness and systolic function. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Cardiomyopathy, familial restrictive 5.",
"acronym": "RCM5.",
"accession": "DI-04772",
"synonyms": null,
"cross_references": "MeSH; D002313.",
"definition": "A heart disorder characterized by impaired filling of the ventricles with reduced diastolic volume, in the presence of normal or near normal wall thickness and systolic function. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Cardiomyopathy, familial restrictive 6.",
"acronym": "RCM6.",
"accession": "DI-06155",
"synonyms": null,
"cross_references": "MeSH; D002313.",
"definition": "A heart disorder characterized by impaired filling of the ventricles with reduced diastolic volume, in the presence of normal or near normal wall thickness and systolic function. RCM6 is an autosomal recessive, severe form characterized by prenatal onset, irreversible heart failure and early death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Alzheimer disease 9.",
"acronym": "AD9.",
"accession": "DI-04711",
"synonyms": null,
"cross_references": "MeSH; D000544.",
"definition": "A familial, late-onset form of Alzheimer disease. Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid- beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death. ",
"keywords": "KW-0026:Alzheimer disease.; KW-0523:Neurodegeneration.; KW-1008:Amyloidosis.; "
},
{
"identifier": "Diamond-Blackfan anemia 4.",
"acronym": "DBA4.",
"accession": "DI-00394",
"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 developing leukemia. 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.; "
}
]
}