{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1580&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1540&ordering=-synonyms","results":[{"identifier":"Cardiomyopathy, dilated, 1II.","acronym":"CMD1II.","accession":"DI-03750","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":"Crouzon syndrome with acanthosis nigricans.","acronym":"CAN.","accession":"DI-01453","synonyms":null,"cross_references":"MedGen; C2677099.","definition":"Classic Crouzon disease which is caused by mutations in the FGFR2 gene is characterized by craniosynostosis (premature fusion of the skull sutures), and facial hypoplasia. Crouzon syndrome with acanthosis nigricans (a skin disorder characterized by pigmentation anomalies), CAN, is considered to be an independent disorder from classic Crouzon syndrome. CAN is characterized by additional more severe physical manifestation, such as Chiari malformation, hydrocephalus, and atresia or stenosis of the choanas, and is caused by a specific mutation (Ala- 391 to Glu) in the transmembrane domain of FGFR3. It is proposed to have an autosomal dominant mode of inheritance. ","keywords":null},{"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":"Deafness, autosomal dominant, 80.","acronym":"DFNA80.","accession":"DI-06082","synonyms":null,"cross_references":"MeSH; D006319.","definition":"A form of non-syndromic, sensorineural hearing loss. Sensorineural hearing loss results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA80 is characterized by severe inner ear malformations, bilateral cochlear aplasia and absent eighth cranial nerve. ","keywords":"KW-1010:Non-syndromic deafness.; "},{"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":"Familial adenomatous polyposis 3.","acronym":"FAP3.","accession":"DI-04455","synonyms":null,"cross_references":"MeSH; D018256.","definition":"A form of familial adenomatous polyposis, a condition characterized by the development of multiple colorectal adenomatous polyps, benign neoplasms derived from glandular epithelium. Some affected individuals may develop colorectal carcinoma. ","keywords":null},{"identifier":"Currarino syndrome.","acronym":"CURRAS.","accession":"DI-01458","synonyms":null,"cross_references":"MedGen; C1867775.","definition":"The triad of a presacral tumor, sacral agenesis and anorectal malformation constitutes the Currarino syndrome which is caused by dorsal-ventral patterning defects during embryonic development. The syndrome occurs in the majority of patients as an autosomal dominant trait. ","keywords":null},{"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":"Cutaneous telangiectasia and cancer syndrome, familial.","acronym":"FCTCS.","accession":"DI-03427","synonyms":null,"cross_references":"MeSH; D013684.","definition":"A disease characterized by cutaneous telangiectases in infancy with patchy alopecia over areas of affected skin, thinning of the lateral eyebrows, and mild dental and nail anomalies. Affected individuals are at increased risk of developing oropharyngeal cancer, and other malignancies have been reported as well. ","keywords":null},{"identifier":"Cutis laxa, autosomal dominant, 1.","acronym":"ADCL1.","accession":"DI-01204","synonyms":null,"cross_references":"MeSH; D003483.","definition":"A connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. Additional variable clinical features are gastrointestinal diverticula, hernia, and genital prolapse. Rare manifestations are pulmonary artery stenosis, aortic aneurysm, bronchiectasis, and emphysema. ","keywords":null},{"identifier":"Cutis laxa, autosomal dominant, 2.","acronym":"ADCL2.","accession":"DI-03317","synonyms":null,"cross_references":"MeSH; D003483.","definition":"A connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. Additional variable clinical features are gastrointestinal diverticula, hernia, and genital prolapse. Rare manifestations are pulmonary artery stenosis, aortic aneurysm, bronchiectasis, and emphysema. ","keywords":null},{"identifier":"Cutis laxa, autosomal dominant, 3.","acronym":"ADCL3.","accession":"DI-04558","synonyms":null,"cross_references":"MeSH; D003483.","definition":"A form of cutis laxa, a connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. Additional variable clinical features are gastrointestinal diverticula, hernia, and genital prolapse. Rare manifestations are pulmonary artery stenosis, aortic aneurysm, bronchiectasis, and emphysema. ADCL3 patients manifest thin skin with visible veins and wrinkles, cataract or corneal clouding, moderate intellectual disability, muscular hypotonia with brisk muscle reflexes, clenched fingers, and pre- and postnatal growth retardation. ","keywords":null},{"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":"Arthrogryposis, impaired intellectual development, and seizures.","acronym":"AMRS.","accession":"DI-03977","synonyms":null,"cross_references":"MeSH; D012640.","definition":"A disease characterized by arthrogryposis, intellectual disability, autism spectrum disorder, and epilepsy. Additional features include limb malformations, distal joint involvement, microcephaly, retromicrognathia, and general muscle hypotonia. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; KW-1268:Autism spectrum disorder.; "},{"identifier":"Cutis laxa, autosomal recessive, 1D.","acronym":"ARCL1D.","accession":"DI-06874","synonyms":null,"cross_references":"MeSH; D003483.","definition":"A connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The clinical spectrum of autosomal recessive cutis laxa is highly heterogeneous with respect to organ involvement and severity. ARCL1D features include skin laxity, thin and translucent skin with easy bruising, facial dysmorphism, joint hypermobility, muscle hypotonia, and multiple severe herniations. Skin laxity may progress with age. ","keywords":null},{"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":"Deafness, autosomal dominant, 90.","acronym":"DFNA90.","accession":"DI-06850","synonyms":null,"cross_references":"MeSH; D006319.","definition":"A form of non-syndromic, sensorineural hearing loss. Sensorineural hearing loss results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA90 is characterized by bilateral progressive hearing loss that affects all frequencies. ","keywords":"KW-1010:Non-syndromic deafness.; "},{"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":"Joubert syndrome 32.","acronym":"JBTS32.","accession":"DI-05134","synonyms":null,"cross_references":"MeSH; D052177.","definition":"A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS32 inheritance is autosomal recessive. ","keywords":"KW-0979:Joubert syndrome.; "}]}