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{
    "count": 6723,
    "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=820&ordering=-synonyms",
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    "results": [
        {
            "identifier": "Cardiomyopathy, dilated, 2J.",
            "acronym": "CMD2J.",
            "accession": "DI-06798",
            "synonyms": null,
            "cross_references": "MeSH; D002311.",
            "definition": "A form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD2J is an autosomal recessive form characterized by onset of heart failure within the first year of life. ",
            "keywords": "KW-0122:Cardiomyopathy.; "
        },
        {
            "identifier": "Cataract 12, multiple types.",
            "acronym": "CTRCT12.",
            "accession": "DI-01215",
            "synonyms": null,
            "cross_references": "MeSH; D002386.",
            "definition": "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. The opacities can be nuclear, sutural, stellate cortical, lamellar, cortical, nuclear embryonic, Y-sutural, punctate cortical, congenital or with juvenile- and adult-onset. ",
            "keywords": "KW-0898:Cataract.; "
        },
        {
            "identifier": "Chediak-Higashi syndrome.",
            "acronym": "CHS.",
            "accession": "DI-00295",
            "synonyms": null,
            "cross_references": "MeSH; D002609.",
            "definition": "A rare autosomal recessive disorder characterized by hypopigmentation, severe immunologic deficiency, a bleeding tendency, neurologic abnormalities, abnormal intracellular transport to and from the lysosome, and giant inclusion bodies in a variety of cell types. Most patients die at an early age unless they receive an allogeneic hematopoietic stem cell transplant (SCT). ",
            "keywords": null
        },
        {
            "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, dilated, with woolly hair, keratoderma, and tooth agenesis.",
            "acronym": "DCWHKTA.",
            "accession": "DI-04267",
            "synonyms": null,
            "cross_references": "MeSH; D007645.",
            "definition": "A cardiocutaneous syndrome characterized by biventricular dilated cardiomyopathy, hyperkeratosis, woolly hair, palmoplantar keratoderma, and hypo/oligodontia. ",
            "keywords": "KW-0122:Cardiomyopathy.; KW-1007:Palmoplantar keratoderma.; "
        },
        {
            "identifier": "Asthma-related traits 1.",
            "acronym": "ASRT1.",
            "accession": "DI-02869",
            "synonyms": null,
            "cross_references": "MeSH; D001249.",
            "definition": "Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, dyspnea, bronchial hyperresponsiveness as assessed by methacholine challenge test, serum IgE levels, atopy and atopic dermatitis. ",
            "keywords": "KW-1058:Asthma.; "
        },
        {
            "identifier": "Cardiomyopathy, familial hypertrophic, 1.",
            "acronym": "CMH1.",
            "accession": "DI-00233",
            "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": "Asthma-related traits 2.",
            "acronym": "ASRT2.",
            "accession": "DI-02880",
            "synonyms": null,
            "cross_references": "MeSH; D001249.",
            "definition": "Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, dyspnea, bronchial hyperresponsiveness as assessed by methacholine challenge test, serum IgE levels, atopy and atopic dermatitis. ",
            "keywords": "KW-1058:Asthma.; "
        },
        {
            "identifier": "Cardiomyopathy, familial hypertrophic, 11.",
            "acronym": "CMH11.",
            "accession": "DI-00241",
            "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, 12.",
            "acronym": "CMH12.",
            "accession": "DI-00242",
            "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, 13.",
            "acronym": "CMH13.",
            "accession": "DI-02553",
            "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, 14.",
            "acronym": "CMH14.",
            "accession": "DI-02680",
            "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, 15.",
            "acronym": "CMH15.",
            "accession": "DI-02679",
            "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, 16.",
            "acronym": "CMH16.",
            "accession": "DI-03037",
            "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, 17.",
            "acronym": "CMH17.",
            "accession": "DI-03038",
            "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, 18.",
            "acronym": "CMH18.",
            "accession": "DI-03039",
            "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, 2.",
            "acronym": "CMH2.",
            "accession": "DI-00234",
            "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, 20.",
            "acronym": "CMH20.",
            "accession": "DI-03041",
            "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, 22.",
            "acronym": "CMH22.",
            "accession": "DI-03731",
            "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": "Developmental delay, impaired speech, and behavioral abnormalities.",
            "acronym": "DDISBA.",
            "accession": "DI-06193",
            "synonyms": null,
            "cross_references": "MeSH; D065886.",
            "definition": "An autosomal dominant disorder characterized by developmental delay with speech impairment, mild to severe intellectual disability, and behavioral abnormalities including autistic features. Additional variable manifestations may include dysmorphic facial features, seizures, hypotonia, motor abnormalities, and hearing loss. ",
            "keywords": "KW-0991:Intellectual disability.; "
        }
    ]
}