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"count": 6723,
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"results": [
{
"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": "Cardiomyopathy, familial hypertrophic, 6.",
"acronym": "CMH6.",
"accession": "DI-00245",
"synonyms": "Familial hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome.; ",
"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. CMH6 patients present Wolff-Parkinson-White ventricular preexcitation, enlarged myocytes without myofiber disarray, and glycogen-containing cytosolic vacuoles within cardiomyocytes. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"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": "Cardiomyopathy, familial hypertrophic, 8.",
"acronym": "CMH8.",
"accession": "DI-00238",
"synonyms": "Familial hypertrophic cardiomyopathy with mid-left ventricular chamber type 1.; MVC1.; ",
"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. Rarely, patients present a variant of familial hypertrophic cardiomyopathy, characterized by mid-left ventricular chamber thickening. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"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": "Cardiomyopathy, infantile histiocytoid.",
"acronym": "CMIH.",
"accession": "DI-00248",
"synonyms": "Cardiomyopathy focal lipid.; Cardiomyopathy infantile xanthomatous.; Cardiomyopathy oncocytic.; ",
"cross_references": "MeSH; D009202.",
"definition": "A heart disease characterized by the presence of pale granular foamy histiocyte-like cells within the myocardium. It usually affects children younger than 2 years of age, with a clear predominance of females over males. Infants present with dysrhythmia or cardiac arrest. The clinical course is usually fulminant, sometimes simulating sudden infant death syndrome. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Cardiomyopathy, infantile hypertrophic.",
"acronym": "CMHI.",
"accession": "DI-04888",
"synonyms": null,
"cross_references": "MeSH; D002312.",
"definition": "An infantile 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. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Cardiospondylocarpofacial syndrome.",
"acronym": "CSCF.",
"accession": "DI-04853",
"synonyms": "Forney Robinson Pascoe syndrome.; Mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones.; ",
"cross_references": "MeSH; D010026.",
"definition": "A syndrome characterized by growth retardation, dysmorphic facial features, brachydactyly with carpal-tarsal fusion and extensive posterior cervical vertebral synostosis, cardiac septal defects with valve dysplasia, and deafness with inner ear malformations. CSCF transmission pattern is consistent with autosomal dominant inheritance. ",
"keywords": null
},
{
"identifier": "Carey-Fineman-Ziter syndrome 1.",
"acronym": "CFZS1.",
"accession": "DI-05049",
"synonyms": "CFZ syndrome.; Congenital non-progressive myopathy with Moebius and Robin sequences.; Myopathy, congenital nonprogressive, with Moebius sequence and Robin sequence.; ",
"cross_references": "MeSH; D020331.",
"definition": "An autosomal recessive multisystem disorder characterized by hypotonia, bilateral congenital facial palsy with impairment of ocular abduction (Moebius sequence), micrognathia, glossoptosis and high- arched or cleft palate (Pierre Robin complex), delayed motor milestones, and failure to thrive. ",
"keywords": null
},
{
"identifier": "Carey-Fineman-Ziter syndrome 2.",
"acronym": "CFZS2.",
"accession": "DI-06467",
"synonyms": null,
"cross_references": "MeSH; D020331.",
"definition": "An autosomal recessive disorder characterized by weakness of the facial musculature, hypomimic facies, increased overbite, micrognathia, and facial dysmorphism. Some patients manifest failure to thrive, axial hypotonia, and progressive scoliosis. ",
"keywords": null
},
{
"identifier": "Carney complex 1.",
"acronym": "CNC1.",
"accession": "DI-01319",
"synonyms": "CAR.; Carney complex, type 1.; Carney myxoma-endocrine complex.; Carney syndrome.; LAMB syndrome.; Myxoma, spotty pigmentation, and endocrine overactivity.; NAME syndrome.; ",
"cross_references": "MeSH; D056733.",
"definition": "CNC is a multiple neoplasia syndrome characterized by spotty skin pigmentation, cardiac and other myxomas, endocrine tumors, and psammomatous melanotic schwannomas. ",
"keywords": null
},
{
"identifier": "Carney complex variant.",
"acronym": "CACOV.",
"accession": "DI-01320",
"synonyms": null,
"cross_references": "MedGen; C1837245.",
"definition": "Carney complex is a multiple neoplasia syndrome characterized by spotty skin pigmentation, cardiac and other myxomas, endocrine tumors, and psammomatous melanotic schwannomas. Familial cardiac myxomas are associated with spotty pigmentation of the skin and other phenotypes, including primary pigmented nodular adrenocortical dysplasia, extracardiac (frequently cutaneous) myxomas, schwannomas, and pituitary, thyroid, testicular, bone, ovarian, and breast tumors. Cardiac myxomas do not develop in all patients with the Carney complex, but affected patients have at least two features of the complex or one feature and a clinically significant family history. ",
"keywords": null
},
{
"identifier": "Carnitine-acylcarnitine translocase deficiency.",
"acronym": "CACTD.",
"accession": "DI-01324",
"synonyms": "CACT deficiency.; ",
"cross_references": "MeSH; D008052.",
"definition": "A rare long-chain fatty acid oxidation disorder. Metabolic consequences include hypoketotic hypoglycemia under fasting conditions, hyperammonemia, elevated creatine kinase and transaminases, dicarboxylic aciduria, very low free carnitine and abnormal acylcarnitine profile with marked elevation of the long-chain acylcarnitines. Clinical features include neurologic abnormalities, cardiomyopathy, arrhythmias, skeletal muscle damage, liver dysfunction and episodes of life-threatening coma, which eventually lead to death. Most patients become symptomatic in the neonatal period with a rapidly progressive deterioration and a high mortality rate. ",
"keywords": null
},
{
"identifier": "Carnitine palmitoyltransferase 1A deficiency.",
"acronym": "CPT1AD.",
"accession": "DI-01321",
"synonyms": "Carnitine palmitoyltransferase I deficiency.; CPT1A deficiency.; CPT-I deficiency.; ",
"cross_references": "MedGen; C1829703.",
"definition": "Rare autosomal recessive metabolic disorder of long-chain fatty acid oxidation characterized by severe episodes of hypoketotic hypoglycemia usually occurring after fasting or illness. Onset is in infancy or early childhood. ",
"keywords": null
},
{
"identifier": "Carnitine palmitoyltransferase 2 deficiency, infantile.",
"acronym": "CPT2DI.",
"accession": "DI-03089",
"synonyms": "Carnitine palmitoyltransferase II deficiency, hepatocardiomuscular.; Carnitine palmitoyltransferase II deficiency with hypoketotic hypoglycemia.; CPT2 deficiency, infantile.; CPT II deficiency, hepatic.; ",
"cross_references": "MeSH; D008661.",
"definition": "An autosomal recessive disorder of mitochondrial long-chain fatty acid oxidation, characterized by hepatic or hepato-cardio-muscular manifestations with onset in infancy. Clinical features include hypoketotic hypoglycemia, lethargy, seizures, hepatomegaly, liver dysfunction, cardiomegaly and dilated cardiomyopathy. ",
"keywords": null
}
]
}