{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4900&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4860&ordering=synonyms","results":[{"identifier":"Cataract 20, multiple types.","acronym":"CTRCT20.","accession":"DI-03776","synonyms":null,"cross_references":"MeSH; D002386.","definition":"An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT20 includes progressive polymorphic anterior, posterior, or peripheral cortical. ","keywords":"KW-0898:Cataract.; "},{"identifier":"Cataract 15, multiple types.","acronym":"CTRCT15.","accession":"DI-03782","synonyms":null,"cross_references":"MeSH; D002386.","definition":"An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT15 includes polymorphic, progressive punctate lamellar, cortical, anterior and posterior polar, nonprogressive lamellar with sutural opacities, embryonic nuclear, and pulverulent cortical, among others. ","keywords":"KW-0898:Cataract.; "},{"identifier":"Cataract 13, with adult i phenotype.","acronym":"CTRCT13.","accession":"DI-03830","synonyms":null,"cross_references":"MeSH; D002386.","definition":"An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT13 is associated with the rare adult i phenotype, in which adult red blood cells are rich in i antigen and contain low levels of I antigen. ","keywords":"KW-0898:Cataract.; "},{"identifier":"Cataract 12, multiple types.","acronym":"CTRCT12.","accession":"DI-01215","synonyms":null,"cross_references":"MeSH; D002386.","definition":"An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. The opacities can be nuclear, sutural, stellate cortical, lamellar, cortical, nuclear embryonic, Y-sutural, punctate cortical, congenital or with juvenile- and adult-onset. ","keywords":"KW-0898:Cataract.; "},{"identifier":"Desmosterolosis.","acronym":"DESMOS.","accession":"DI-01482","synonyms":null,"cross_references":"MedGen; C1865596.","definition":"Rare autosomal recessive disorder characterized by multiple congenital anomalies and elevated levels of the cholesterol precursor desmosterol in plasma, tissue, and cultured cells. ","keywords":null},{"identifier":"Caspase-8 deficiency.","acronym":"CASP8D.","accession":"DI-01326","synonyms":null,"cross_references":"MedGen; C1846545.","definition":"Disorder resembling autoimmune lymphoproliferative syndrome (ALPS). It is characterized by lymphadenopathy, splenomegaly, and defective CD95- induced apoptosis of peripheral blood lymphocytes (PBLs). It leads to defects in activation of T-lymphocytes, B-lymphocytes, and natural killer cells leading to immunodeficiency characterized by recurrent sinopulmonary and herpes simplex virus infections and poor responses to immunization. ","keywords":null},{"identifier":"Carpenter syndrome 2.","acronym":"CRPT2.","accession":"DI-03635","synonyms":null,"cross_references":"MeSH; D000168.","definition":"An autosomal recessive multiple congenital malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet, in association with abnormal left-right patterning and other features, most commonly obesity, umbilical hernia, cryptorchidism, and congenital heart disease. ","keywords":"KW-0989:Craniosynostosis.; "},{"identifier":"Carpal tunnel syndrome 2.","acronym":"CTS2.","accession":"DI-06003","synonyms":null,"cross_references":"MeSH; D002349.","definition":"An autosomal dominant form of carpal tunnel syndrome, a condition characterized by entrapment of the median nerve within the carpal tunnel. Symptoms include burning pain and paresthesias involving the ventral surface of the hand and fingers which may radiate proximally. Impairment of sensation in the distribution of the median nerve and thenar muscle atrophy may occur. This condition may be associated with repetitive occupational trauma, wrist injuries, amyloid neuropathies, rheumatoid arthritis. ","keywords":null},{"identifier":"Delayed sleep phase syndrome.","acronym":"DSPS.","accession":"DI-03211","synonyms":null,"cross_references":"MeSH; D020178.","definition":"A circadian rhythm sleep disorder characterized by sleep-onset insomnia and difficulty in awakening at the desired time. Patients with DSPS have chronic difficulty in adjusting their sleep-onset and wake-up times to occupational, school, and social activities. ","keywords":null},{"identifier":"Delpire-McNeill syndrome.","acronym":"DELMNES.","accession":"DI-05959","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, hypotonia with delayed or absent walking, bilateral sensorineural deafness, poor or absent speech, and mild to severe intellectual disability. Additional variable features may include spasticity or minor involvement of other organ systems, such as hip dislocation or ventricular septal defect. ","keywords":"KW-0209:Deafness.; KW-0991:Intellectual disability.; "},{"identifier":"Dent disease 2.","acronym":"DENT2.","accession":"DI-00386","synonyms":null,"cross_references":"MeSH; D015499.","definition":"An X-linked renal disease belonging to the 'Dent disease complex', a group of disorders characterized by proximal renal tubular defect, hypercalciuria, nephrocalcinosis, and renal insufficiency. The spectrum of phenotypic features is remarkably similar in the various disorders, except for differences in the severity of bone deformities and renal impairment. Characteristic abnormalities include low- molecular-weight proteinuria and other features of Fanconi syndrome, such as glycosuria, aminoaciduria, and phosphaturia, but typically do not include proximal renal tubular acidosis. Progressive renal failure is common, as are nephrocalcinosis and kidney stones. ","keywords":null},{"identifier":"Carney complex variant.","acronym":"CACOV.","accession":"DI-01320","synonyms":null,"cross_references":"MedGen; C1837245.","definition":"Carney complex is a multiple neoplasia syndrome characterized by spotty skin pigmentation, cardiac and other myxomas, endocrine tumors, and psammomatous melanotic schwannomas. Familial cardiac myxomas are associated with spotty pigmentation of the skin and other phenotypes, including primary pigmented nodular adrenocortical dysplasia, extracardiac (frequently cutaneous) myxomas, schwannomas, and pituitary, thyroid, testicular, bone, ovarian, and breast tumors. Cardiac myxomas do not develop in all patients with the Carney complex, but affected patients have at least two features of the complex or one feature and a clinically significant family history. ","keywords":null},{"identifier":"Dentatorubral-pallidoluysian atrophy.","acronym":"DRPLA.","accession":"DI-01476","synonyms":null,"cross_references":"MedGen; C2931846.","definition":"Autosomal dominant neurodegenerative disorder characterized by a loss of neurons in the dentate nucleus, rubrum, glogus pallidus and Luys'body. Clinical features are myoclonus epilepsy, dementia, and cerebellar ataxia. Onset of the disease occurs usually in the second decade of life and death in the fourth. ","keywords":null},{"identifier":"Dentici-Novelli neurodevelopmental syndrome.","acronym":"DENNED.","accession":"DI-06425","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal recessive disorder characterized by global developmental delay and impaired intellectual development apparent from infancy. Disease severity is variable. More severely affected individuals have profound intellectual disability, axial hypotonia, peripheral spasticity, prenatal and postnatal microcephaly, early-onset seizures, brain imaging abnormalities, and are unable to walk or speak. Patients with a less severe phenotype may achieve some developmental goals and show less severe intellectual disability. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Carey-Fineman-Ziter syndrome 2.","acronym":"CFZS2.","accession":"DI-06467","synonyms":null,"cross_references":"MeSH; D020331.","definition":"An autosomal recessive disorder characterized by weakness of the facial musculature, hypomimic facies, increased overbite, micrognathia, and facial dysmorphism. Some patients manifest failure to thrive, axial hypotonia, and progressive scoliosis. ","keywords":null},{"identifier":"Cardiomyopathy, infantile hypertrophic.","acronym":"CMHI.","accession":"DI-04888","synonyms":null,"cross_references":"MeSH; D002312.","definition":"An infantile form of hypertrophic cardiomyopathy, a 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 restrictive 6.","acronym":"RCM6.","accession":"DI-06155","synonyms":null,"cross_references":"MeSH; D002313.","definition":"A heart disorder characterized by impaired filling of the ventricles with reduced diastolic volume, in the presence of normal or near normal wall thickness and systolic function. RCM6 is an autosomal recessive, severe form characterized by prenatal onset, irreversible heart failure and early death. ","keywords":"KW-0122:Cardiomyopathy.; "},{"identifier":"Cardiomyopathy, familial restrictive 5.","acronym":"RCM5.","accession":"DI-04772","synonyms":null,"cross_references":"MeSH; D002313.","definition":"A heart disorder characterized by impaired filling of the ventricles with reduced diastolic volume, in the presence of normal or near normal wall thickness and systolic function. ","keywords":"KW-0122:Cardiomyopathy.; "},{"identifier":"Denys-Drash syndrome.","acronym":"DDS.","accession":"DI-01480","synonyms":null,"cross_references":"MedGen; C0950121.","definition":"Typical nephropathy characterized by diffuse mesangial sclerosis, genital abnormalities, and/or Wilms tumor. There is phenotypic overlap with WAGR syndrome and Frasier syndrome. Inheritance is autosomal dominant, but most cases are sporadic. ","keywords":null},{"identifier":"Cardiomyopathy, familial restrictive 4.","acronym":"RCM4.","accession":"DI-03732","synonyms":null,"cross_references":"MeSH; D002313.","definition":"A heart disorder characterized by impaired filling of the ventricles with reduced diastolic volume, in the presence of normal or near normal wall thickness and systolic function. ","keywords":"KW-0122:Cardiomyopathy.; "}]}