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"count": 6723,
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"results": [
{
"identifier": "Cardiomyopathy, dilated, 1S.",
"acronym": "CMD1S.",
"accession": "DI-00224",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Cardiomyopathy, dilated, 1JJ.",
"acronym": "CMD1JJ.",
"accession": "DI-03729",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Cardiomyopathy, dilated, 1KK.",
"acronym": "CMD1KK.",
"accession": "DI-03730",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Cardiomyopathy, dilated, 1L.",
"acronym": "CMD1L.",
"accession": "DI-00218",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Cardiomyopathy, dilated, 1LL.",
"acronym": "CMD1LL.",
"accession": "DI-03860",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Cardiomyopathy, dilated, 1M.",
"acronym": "CMD1M.",
"accession": "DI-00219",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Cardiomyopathy, dilated, 1MM.",
"acronym": "CMD1MM.",
"accession": "DI-03872",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Cardiomyopathy, dilated, 1NN.",
"acronym": "CMD1NN.",
"accession": "DI-04172",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Ablepharon-macrostomia syndrome.",
"acronym": "AMS.",
"accession": "DI-04542",
"synonyms": null,
"cross_references": "MeSH; D008265.",
"definition": "A congenital ectodermal dysplasia characterized by absent eyelids, macrostomia, microtia, redundant skin, sparse hair, dysmorphic nose and ears, variable abnormalities of the nipples, genitalia, fingers, and hands, largely normal intellectual and motor development, and poor growth. ",
"keywords": "KW-0038:Ectodermal dysplasia.; "
},
{
"identifier": "Cardiomyopathy, dilated, 1OO.",
"acronym": "CMD1OO.",
"accession": "DI-06603",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD1OO inheritance is autosomal dominant. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Cardiomyopathy, dilated, 1P.",
"acronym": "CMD1P.",
"accession": "DI-00222",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Cardiomyopathy, dilated, 1PP.",
"acronym": "CMD1PP.",
"accession": "DI-06707",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD1PP inheritance is autosomal dominant. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Cardiomyopathy, dilated, 2B.",
"acronym": "CMD2B.",
"accession": "DI-03469",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Cardiomyopathy, dilated, 2C.",
"acronym": "CMD2C.",
"accession": "DI-05389",
"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. CMD2C is an autosomal recessive form with variable severity and age of onset ranging from 2 to 20 years. Death in infancy or early childhood may occur in severely affected children. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Cardiomyopathy, dilated, 2D.",
"acronym": "CMD2D.",
"accession": "DI-06135",
"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. CMD2D is an autosomal recessive, severe form with neonatal onset. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Cardiomyopathy, dilated, 2E.",
"acronym": "CMD2E.",
"accession": "DI-06212",
"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. CMD2E is an autosomal recessive form with neonatal or early childhood onset and rapid progression to cardiac failure. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Cardiomyopathy, dilated, 2F.",
"acronym": "CMD2F.",
"accession": "DI-06345",
"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. CMD2F is an autosomal recessive, early-onset form. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Cardiomyopathy, dilated, 2G.",
"acronym": "CMD2G.",
"accession": "DI-06435",
"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. CMD2G is an autosomal recessive form characterized by early-onset, severe cardiomyopathy that progresses rapidly to heart failure in the neonatal period without evidence of intervening hypertrophy. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Cardiomyopathy, dilated, 2H.",
"acronym": "CMD2H.",
"accession": "DI-06595",
"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. CMD2H is an autosomal recessive form characterized by rapid progression and death in early infancy. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 89.",
"acronym": "DEE89.",
"accession": "DI-05990",
"synonyms": null,
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE89 is an autosomal recessive severe form characterized by profound global developmental delay with impaired intellectual development, absent speech, inability to sit or walk due to axial hypotonia and spastic quadriparesis, and onset of seizures in the first days or months of life. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
}
]
}