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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=760&ordering=-synonyms",
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"results": [
{
"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": "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": "Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma.",
"acronym": "CAPOK.",
"accession": "DI-05518",
"synonyms": null,
"cross_references": "MeSH; D010859.",
"definition": "An autosomal recessive genodermatosis characterized by hypo- and hyperpigmented macular skin lesions, progressive alopecia, palmoplantar keratoderma, dystrophic nails, teeth abnormalities and a predisposition to squamous cell carcinoma. ",
"keywords": "KW-1007:Palmoplantar keratoderma.; KW-1063:Hypotrichosis.; "
},
{
"identifier": "Alpha-fetoprotein, hereditary persistence.",
"acronym": "HPAFP.",
"accession": "DI-04205",
"synonyms": null,
"cross_references": "MeSH; D008661.",
"definition": "A benign autosomal dominant condition characterized by continued expression of alpha-fetoprotein in adult life. ",
"keywords": null
},
{
"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, 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": "Candidiasis, familial, 9.",
"acronym": "CANDF9.",
"accession": "DI-04473",
"synonyms": null,
"cross_references": "MeSH; D002178.",
"definition": "A disorder characterized by altered immune responses and impaired clearance of fungal infections, selective against Candida. It is characterized by persistent and/or recurrent infections of the skin, nails and mucous membranes caused by organisms of the genus Candida, mainly Candida albicans. ",
"keywords": null
},
{
"identifier": "Capillary malformation-arteriovenous malformation 1.",
"acronym": "CMAVM1.",
"accession": "DI-01315",
"synonyms": null,
"cross_references": "MeSH; D054079.",
"definition": "A disorder characterized by atypical capillary malformations that are multiple, small, round to oval in shape and pinkish red in color. These capillary malformations are associated with either arteriovenous malformation, arteriovenous fistula, or Parkes Weber syndrome. CMAVM1 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Capillary malformation-arteriovenous malformation 2.",
"acronym": "CMAVM2.",
"accession": "DI-05392",
"synonyms": null,
"cross_references": "MeSH; D054079.",
"definition": "An autosomal dominant disorder characterized by multiple, round to oval or more irregularly shaped macules that are pinkish red in color and are randomly distributed across the body. These capillary malformations are associated with either arteriovenous malformation, arteriovenous fistula, or Parkes Weber syndrome. ",
"keywords": null
},
{
"identifier": "Arthrogryposis multiplex congenita 6.",
"acronym": "AMC6.",
"accession": "DI-06114",
"synonyms": null,
"cross_references": "MeSH; D001176.",
"definition": "A form of arthrogryposis multiplex congenita, a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. AMC6 is an autosomal recessive lethal form. Death usually occurs in utero or in infancy. ",
"keywords": null
},
{
"identifier": "Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development.",
"acronym": "ACCIID.",
"accession": "DI-05453",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal dominant disease characterized by moderate to severe intellectual disability, craniosynostosis, cleft palate, micrognathia, arthrogryposis, and short stature. Some patients may present bone abnormalities and generalized seizures. ",
"keywords": "KW-0242:Dwarfism.; KW-0989:Craniosynostosis.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Carboxypeptidase N deficiency.",
"acronym": "CPND.",
"accession": "DI-01316",
"synonyms": null,
"cross_references": "MedGen; C0398782.",
"definition": "Patients affected present some combination of angioedema or chronic urticaria, as well as hay fever or asthma, and have also slightly depressed serum carboxy peptidase N, suggestive of autosomal recessive inheritance of this disorder. ",
"keywords": null
},
{
"identifier": "Arthrogryposis, distal, 11.",
"acronym": "DA11.",
"accession": "DI-06491",
"synonyms": null,
"cross_references": "MeSH; D001176.",
"definition": "A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA11 is an autosomal dominant form characterized mainly by camptodactyly. Other features include absent flexion creases and limited forearm supination. ",
"keywords": null
},
{
"identifier": "Cardiac conduction disease with or without dilated cardiomyopathy.",
"acronym": "CCDD.",
"accession": "DI-04282",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A cardiac disorder characterized by atrial tachyarrhythmia and conduction system disease. Some patients have dilated cardiomyopathy. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Abdominal obesity-metabolic syndrome 4.",
"acronym": "AOMS4.",
"accession": "DI-05676",
"synonyms": null,
"cross_references": "MeSH; D024821.",
"definition": "A form of abdominal obesity-metabolic syndrome, a disorder characterized by abdominal obesity, high triglycerides, low levels of high density lipoprotein cholesterol, high blood pressure, and elevated fasting glucose levels. AOMS4 is an autosomal dominant disease. Patients manifest obesity, hypertension, early-onset coronary artery disease and type 2 diabetes. ",
"keywords": "KW-0219:Diabetes mellitus.; KW-0550:Obesity.; "
},
{
"identifier": "Cardiac, facial, and digital anomalies with developmental delay.",
"acronym": "CAFDADD.",
"accession": "DI-05370",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal dominant disorder characterized by delayed motor and speech development, developmental regression, congenital heart defects, limb and digital anomalies, and dysmorphic features. Cardiac features include pulmonary stenosis, patent ductus arteriosus, aortic coarctation, valvular defects, hypoplastic left heart, double outlet right ventricle, and conduction abnormalities. Dysmorphic facial features include multiple hair whorls or hairline abnormalities, ptosis, epicanthal folds, and low-set or dysplastic ears. ",
"keywords": null
},
{
"identifier": "Cardiac-urogenital syndrome.",
"acronym": "CUGS.",
"accession": "DI-05461",
"synonyms": null,
"cross_references": "MeSH; D014564.",
"definition": "An autosomal dominant syndrome characterized by partial anomalous pulmonary venous return, tracheal anomalies, pulmonary hypoplasia, congenital diaphragmatic hernia, thyroid fibrosis, thymic involution, cleft spleen, penoscrotal hypospadias, and cryptorchidism. ",
"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": "Deafness, congenital heart defects, and posterior embryotoxon.",
"acronym": "DCHE.",
"accession": "DI-05252",
"synonyms": null,
"cross_references": "MeSH; D000013.",
"definition": "An autosomal dominant disease characterized by mild to severe combined hearing loss, congenital heart defects, and posterior embryotoxon, a corneal abnormality consisting of a central collagen core surrounded by a thin layer of Descemets membrane and separated from the anterior chamber by a layer of endothelium. Congenital heart defects include tetralogy of Fallot, ventricular septal defect, or isolated peripheral pulmonic stenosis. ",
"keywords": "KW-0209:Deafness.; "
}
]
}