Human Disease List
GET /api/human_diseases/?format=api&offset=5980&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6000&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5960&ordering=-identifier", "results": [ { "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": "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": "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": "Cardiac valvular dysplasia 2.", "acronym": "CVDP2.", "accession": "DI-06519", "synonyms": null, "cross_references": "MeSH; D006349.", "definition": "An autosomal recessive form of congenital heart defects, characterized primarily by congenital stenosis and insufficiency of the semilunar valves, although mild insufficiency of the atrioventricular valves has been observed as well. Other features include subaortic stenosis and dilation of the ascending aorta and/or pulmonary artery in some patients. ", "keywords": null }, { "identifier": "Cardiac valvular dysplasia 1.", "acronym": "CVDP1.", "accession": "DI-05005", "synonyms": "Cardiac valvular defect, developmental.; CVDD.; ", "cross_references": "MeSH; D006349.", "definition": "An autosomal recessive form of congenital heart defects, characterized by valvular malformations involving the pulmonic, tricuspid and mitral valves. ", "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": "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 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": "Cardiac arrhythmia syndrome, with or without skeletal muscle weakness.", "acronym": "CARDAR.", "accession": "DI-03912", "synonyms": "CPVT5.; Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness.; ", "cross_references": "MeSH; D017180.", "definition": "An autosomal recessive cardiac disorder characterized by stress- induced arrhythmias in infancy or early childhood. Patients present with recurrent syncope or cardiac arrest after physical activity or emotional stress. Sudden death may occur in early childhood. Some patients have muscle weakness. ", "keywords": null }, { "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": "Carbamoyl phosphate synthetase 1 deficiency.", "acronym": "CPS1D.", "accession": "DI-00209", "synonyms": "Carbamoyl phosphate synthetase I deficiency.; CPS I deficiency.; Hyperammonemia due to carbamoyl phosphate synthetase I deficiency.; ", "cross_references": "MeSH; D020165.", "definition": "An autosomal recessive disorder of the urea cycle causing hyperammonemia. It can present as a devastating metabolic disease dominated by severe hyperammonemia in neonates or as a more insidious late-onset condition, generally manifesting as life-threatening hyperammonemic crises under catabolic situations. Clinical features include protein intolerance, intermittent ataxia, seizures, lethargy, developmental delay and intellectual disability. ", "keywords": null }, { "identifier": "Capillary malformations, congenital.", "acronym": "CMC.", "accession": "DI-03786", "synonyms": "Capillary malformations.; CMAL.; Familial multiple nevi flammei.; Hereditary capillary malformations.; Port-wine stain.; ", "cross_references": "MeSH; D054079.", "definition": "A form of vascular malformations that are present from birth, tend to grow with the individual, do not regress spontaneously, and show normal rates of endothelial cell turnover. Capillary malformations are distinct from capillary hemangiomas, which are highly proliferative lesions that appear shortly after birth and show rapid growth, slow involution, and endothelial hypercellularity. ", "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": "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": "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": "Candidiasis, familial, 8.", "acronym": "CANDF8.", "accession": "DI-03950", "synonyms": "Candidiasis familial chronic mucocutaneous autosomal recessive.; ", "cross_references": "MeSH; D002178.", "definition": "A primary immunodeficiency disorder with 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": "Candidiasis, familial, 6.", "acronym": "CANDF6.", "accession": "DI-03125", "synonyms": "Candidiasis familial chronic mucocutaneous autosomal dominant.; Chronic mucocutaneous candidiasis 6.; ", "cross_references": "MeSH; D002178.", "definition": "A primary immunodeficiency disorder with 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": "Candidiasis, familial, 4.", "acronym": "CANDF4.", "accession": "DI-02808", "synonyms": "Candidiasis familial chronic mucocutaneous.; Chronic mucocutaneous candidiasis 4.; ", "cross_references": "MeSH; D002178.", "definition": "A primary immunodeficiency disorder with 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": "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": "Canavan disease.", "acronym": "CAND.", "accession": "DI-00208", "synonyms": "ACY2 deficiency.; Aminoacylase 2 deficiency.; ASPA deficiency.; Aspartoacylase deficiency.; Canavan-van Bogaert-Bertrand disease.; Spongy degeneration of central nervous system.; ", "cross_references": "MeSH; D017825.", "definition": "A rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolization and demyelination that gives rise to a spongy appearance. The clinical features are onset in early infancy, atonia of neck muscles, hypotonia, hyperextension of legs and flexion of arms, blindness, severe mental defect, megalocephaly, and death by 18 months on the average. ", "keywords": "KW-1026:Leukodystrophy.; " } ] }