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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=760",
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"results": [
{
"identifier": "Cardiac valvular dysplasia, X-linked.",
"acronym": "CVDPX.",
"accession": "DI-02915",
"synonyms": "Congenital valvular heart disease.; EDS5.; Ehlers-Danlos syndrome type V.; X-linked myxomatous valvular dystrophy.; XMVD.; ",
"cross_references": "MeSH; D006349.",
"definition": "A rare X-linked heart disease characterized by mitral and/or aortic valve regurgitation. The histologic features include fragmentation of collagenous bundles within the valve fibrosa and accumulation of proteoglycans, which produces excessive valve tissue leading to billowing of the valve leaflets. ",
"keywords": null
},
{
"identifier": "Cardioacrofacial dysplasia 1.",
"acronym": "CAFD1.",
"accession": "DI-05997",
"synonyms": null,
"cross_references": "MeSH; D017880.",
"definition": "An autosomal dominant disease characterized by dysmorphic facial features, congenital cardiac defects, primarily common atrium or atrioventricular septal defect, and limb anomalies, including short limbs, brachydactyly and postaxial polydactyly. ",
"keywords": null
},
{
"identifier": "Cardioacrofacial dysplasia 2.",
"acronym": "CAFD2.",
"accession": "DI-05998",
"synonyms": null,
"cross_references": "MeSH; D017880.",
"definition": "An autosomal dominant disease characterized by dysmorphic facial features, congenital cardiac defects, primarily common atrium or atrioventricular septal defect, and limb anomalies, including short limbs, brachydactyly and postaxial polydactyly. CAFD2 patients may show developmental delay of variable severity, intellectual disability, autistic features and focal seizures. ",
"keywords": null
},
{
"identifier": "Cardiofaciocutaneous syndrome 1.",
"acronym": "CFC1.",
"accession": "DI-01318",
"synonyms": "Cardio-facio-cutaneous syndrome.; CFCS.; CFC syndrome.; ",
"cross_references": "MeSH; D006330.",
"definition": "A multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects and intellectual disability. Heart defects include pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices. ",
"keywords": "KW-0038:Ectodermal dysplasia.; KW-0122:Cardiomyopathy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Cardiofaciocutaneous syndrome 2.",
"acronym": "CFC2.",
"accession": "DI-03779",
"synonyms": null,
"cross_references": "MeSH; D006330.",
"definition": "A form of cardiofaciocutaneous syndrome, a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects and intellectual disability. Heart defects include pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices. CFC2 patients often do not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma observed in CFC1. ",
"keywords": "KW-0038:Ectodermal dysplasia.; KW-0122:Cardiomyopathy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Cardiofaciocutaneous syndrome 3.",
"acronym": "CFC3.",
"accession": "DI-03780",
"synonyms": null,
"cross_references": "MeSH; D006330.",
"definition": "A form of cardiofaciocutaneous syndrome, a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects and intellectual disability. Heart defects include pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices. Distinctive features of CFC3 include macrostomia and horizontal shape of palpebral fissures. ",
"keywords": "KW-0038:Ectodermal dysplasia.; KW-0122:Cardiomyopathy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Cardiofaciocutaneous syndrome 4.",
"acronym": "CFC4.",
"accession": "DI-03781",
"synonyms": null,
"cross_references": "MeSH; D006330.",
"definition": "A form of cardiofaciocutaneous syndrome, a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects and intellectual disability. Heart defects include pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices. ",
"keywords": "KW-0038:Ectodermal dysplasia.; KW-0122:Cardiomyopathy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Cardiofacioneurodevelopmental syndrome.",
"acronym": "CFNDS.",
"accession": "DI-05989",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal recessive disorder characterized by global developmental delay, feeding difficulties, microcephaly and dysmorphic features. Additional features include cleft lip, cleft palate, variable cardiac defects, and abdominal situs inversus with asplenia. Brain imaging reveals cerebellar hypoplasia. ",
"keywords": "KW-1186:Ciliopathy.; "
},
{
"identifier": "Cardiomyopathy, dilated, 1A.",
"acronym": "CMD1A.",
"accession": "DI-00210",
"synonyms": "Cardiomyopathy dilated with conduction defect 1.; CDCD1.; ",
"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, 1AA, with or without left ventricular non-compaction.",
"acronym": "CMD1AA.",
"accession": "DI-00211",
"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, 1BB.",
"acronym": "CMD1BB.",
"accession": "DI-02483",
"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, 1CC.",
"acronym": "CMD1CC.",
"accession": "DI-02530",
"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, 1C, with or without left ventricular non-compaction.",
"acronym": "CMD1C.",
"accession": "DI-00212",
"synonyms": "Cardiomyopathy dilated with left ventricular noncompaction.; ",
"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. Cardiomyopathy dilated type 1C is associated with left ventricular non-compaction in some patients. Left ventricular non-compaction is characterized by numerous prominent trabeculations and deep intertrabecular recesses in hypertrophied and hypokinetic segments of the left ventricle. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Cardiomyopathy, dilated, 1D.",
"acronym": "CMD1D.",
"accession": "DI-00213",
"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, 1DD.",
"acronym": "CMD1DD.",
"accession": "DI-02568",
"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, 1E.",
"acronym": "CMD1E.",
"accession": "DI-00214",
"synonyms": "CDCD2.; Dilated cardiomyopathy with conduction defect 2.; Dilated cardiomyopathy with conduction disorder and arrhythmia.; ",
"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, 1EE.",
"acronym": "CMD1EE.",
"accession": "DI-02682",
"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, 1FF.",
"acronym": "CMD1FF.",
"accession": "DI-02681",
"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, 1G.",
"acronym": "CMD1G.",
"accession": "DI-00215",
"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, 1GG.",
"acronym": "CMD1GG.",
"accession": "DI-02945",
"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.; "
}
]
}