{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=740&ordering=identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=700&ordering=identifier","results":[{"identifier":"Camptodactyly, tall stature, and hearing loss syndrome.","acronym":"CATSHLS.","accession":"DI-01312","synonyms":"CATSHL syndrome.; ","cross_references":"MeSH; D034381.","definition":"An autosomal dominant syndrome characterized by permanent and irreducible flexion of one or more fingers of the hand and/or feet, tall stature, scoliosis and/or a pectus excavatum, and hearing loss. Affected individuals have developmental delay and/or intellectual disability, and several of these have microcephaly. Radiographic findings included tall vertebral bodies with irregular borders and broad femoral metaphyses with long tubular shafts. On audiological exam, each tested member have bilateral sensorineural hearing loss and absent otoacoustic emissions. The hearing loss was congenital or developed in early infancy, progressed variably in early childhood, and range from mild to severe. Computed tomography and magnetic resonance imaging reveal that the brain, middle ear, and inner ear are structurally normal. ","keywords":"KW-0209:Deafness.; "},{"identifier":"Camptosynpolydactyly, complex.","acronym":"CCSPD.","accession":"DI-04787","synonyms":"Camptopolydactyly, disorganization type.; ","cross_references":"MeSH; D006228.","definition":"An autosomal recessive disorder characterized by hand and foot deformities consisting of polydactyly with digits arising from the dorsum of hands, syn- and camptodactyly of some fingers, soft tissue syndactyly of first and second toes, and dysplastic nails. ","keywords":null},{"identifier":"Camurati-Engelmann disease.","acronym":"CAEND.","accession":"DI-01314","synonyms":"CED.; Diaphyseal dysplasia 1, progressive.; DPD1.; Engelmann disease.; PDD.; Progressive diaphyseal dysplasia.; ","cross_references":"MeSH; D003966.","definition":"An autosomal dominant disorder characterized by hyperostosis and sclerosis of the diaphyses of long bones. The disease typically presents in early childhood with pain, muscular weakness and waddling gait, and in some cases other features such as exophthalmos, facial paralysis, hearing difficulties and loss of vision. ","keywords":null},{"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.; "},{"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":"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":"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, 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, 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":"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":"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":"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":"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":"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, 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":"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 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}]}