{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1480&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1440&ordering=-synonyms","results":[{"identifier":"Fanconi anemia, complementation group U.","acronym":"FANCU.","accession":"DI-04905","synonyms":null,"cross_references":"MeSH; D005199.","definition":"A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. ","keywords":"KW-0923:Fanconi anemia.; "},{"identifier":"Cortical dysplasia, complex, with other brain malformations 5.","acronym":"CDCBM5.","accession":"DI-04097","synonyms":null,"cross_references":"MeSH; D054081.","definition":"A disorder of aberrant neuronal migration and disturbed axonal guidance. Clinical features include seizures, global developmental delay, and various brain malformations such as a diffuse simplified gyral pattern with reduced volume of white matter, globular basal ganglia, thin and dysmorphic corpus callosum, mild brainstem hypoplasia with a flat pons, mild cerebellar vermis hypoplasia, and mildly enlarged posterior fossa. ","keywords":null},{"identifier":"Corneal dystrophy, congenital stromal.","acronym":"CSCD.","accession":"DI-01418","synonyms":null,"cross_references":"MeSH; D003317.","definition":"A corneal dystrophy characterized by congenital corneal opacification consisting of a large number of flakes and spots throughout all layers of the stroma. It results in progressive, painless visual loss. Corneal erosions and photophobia are absent. ","keywords":"KW-1212:Corneal dystrophy.; "},{"identifier":"Acromicric dysplasia.","acronym":"ACMICD.","accession":"DI-03225","synonyms":null,"cross_references":"MeSH; D001848.","definition":"An autosomal dominant disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have distinct facial features, including round face, well- defined eyebrows, long eyelashes, bulbous nose with anteverted nostrils, long and prominent philtrum, and thick lips with a small mouth. Other characteristic features include hoarse voice and pseudomuscular build, and there are distinct skeletal features as well, including an internal notch of the femoral head, internal notch of the second metacarpal, and external notch of the fifth metacarpal. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Epidermodysplasia verruciformis 3.","acronym":"EV3.","accession":"DI-05446","synonyms":null,"cross_references":"MeSH; D004819.","definition":"A form of epidermodysplasia verruciformis, a rare genodermatosis associated with a high risk of skin carcinoma that results from an abnormal susceptibility to infection by specific human papillomaviruses, including the oncogenic HPV5. Infection leads to the early development of disseminated flat wart-like and pityriasis versicolor-like skin lesions. Cutaneous Bowen's carcinomas in situ and invasive squamous cell carcinomas develop in about half of the patients, mainly on sun-exposed skin areas. EV3 inheritance is autosomal recessive. ","keywords":null},{"identifier":"Ectodermal dysplasia 13, hair/tooth type.","acronym":"ECTD13.","accession":"DI-04968","synonyms":null,"cross_references":"MeSH; D004476.","definition":"A form of ectodermal dysplasia, a disorder due to abnormal development of two or more ectodermal structures. ECTD13 is an autosomal recessive form characterized by severe oligodontia accompanied by anomalies of hair and skin. ","keywords":"KW-0038:Ectodermal dysplasia.; "},{"identifier":"Calcification of joints and arteries.","acronym":"CALJA.","accession":"DI-03016","synonyms":null,"cross_references":"MeSH; D002114.","definition":"A condition characterized by adult-onset calcification of the lower extremity arteries, including the iliac, femoral and tibial arteries, and hand and foot capsule joints. Age of onset has been reported as early as the second decade of life, usually involving intense joint pain or calcification in the hands. ","keywords":null},{"identifier":"Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features.","acronym":"EPILX2.","accession":"DI-06540","synonyms":null,"cross_references":"MeSH; D004827.","definition":"A neurologic disorder characterized by variable combinations of epileptic seizure, and a varying degree of intellectual disability and developmental delay. Some patients have dysmorphic facial features or mild skeletal anomalies. In general, males are more severely affected than females, although there is evidence for incomplete penetrance in both sexes. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Encephalopathy, progressive, with or without lipodystrophy.","acronym":"PELD.","accession":"DI-04174","synonyms":null,"cross_references":"MeSH; D020271.","definition":"A neurodegenerative disease characterized by developmental regression of motor and cognitive skills in the first years of life, often leading to death in the first decade, hyperactive behavior, seizures, tremor and ataxic gait. Patients may show a mild or typical lipodystrophic appearance. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Corneal dystrophy, Fuchs endothelial, 8.","acronym":"FECD8.","accession":"DI-03947","synonyms":null,"cross_references":"MeSH; D005642.","definition":"A corneal disease caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition. ","keywords":"KW-1212:Corneal dystrophy.; "},{"identifier":"Cortical dysplasia-focal epilepsy syndrome.","acronym":"CDFES.","accession":"DI-00381","synonyms":null,"cross_references":"MeSH; D054220.","definition":"A disease characterized by cortical dysplasia, focal epilepsy, relative macrocephaly, and diminished deep-tendon reflexes. Intractable focal seizures begin in early childhood, after which language regression, hyperactivity, impulsive and aggressive behavior, and intellectual disability develop. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia.","acronym":"CDLSMD.","accession":"DI-05601","synonyms":null,"cross_references":"MeSH; D001847.","definition":"A severe form of calvarial doughnut lesions with bone fragility, a rare autosomal dominant disease characterized by low bone density, distinctive X-ray translucencies of the skull, multiple fractures, elevated serum alkaline phosphatase, and dental caries. CDLSMD patients show neonatal onset of fractures, severe short stature, marked cranial sclerosis, and spondylometaphyseal dysplasia. ","keywords":null},{"identifier":"Arterial calcification of infancy, generalized, 2.","acronym":"GACI2.","accession":"DI-03382","synonyms":null,"cross_references":"MeSH; D061205.","definition":"A severe autosomal recessive disorder characterized by calcification of the internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation. The disorder is often fatal within the first 6 months of life because of myocardial ischemia resulting in refractory heart failure. ","keywords":null},{"identifier":"Diamond-Blackfan anemia 8.","acronym":"DBA8.","accession":"DI-00398","synonyms":null,"cross_references":"MeSH; D029503.","definition":"A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond- Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre- Robin syndrome and cleft palate), thumb and urogenital anomalies. ","keywords":"KW-1024:Diamond-Blackfan anemia.; "},{"identifier":"Diamond-Blackfan anemia-like.","acronym":"DBAL.","accession":"DI-05222","synonyms":null,"cross_references":"MeSH; D029503.","definition":"An autosomal recessive hematologic disease characterized by severe red cell hypoplastic anemia, selective absence of red cell precursors and progenitors seen on bone marrow biopsy, and increased serum erythropoietin. ","keywords":null},{"identifier":"Deafness, autosomal dominant, 34, with or without inflammation.","acronym":"DFNA34.","accession":"DI-05146","synonyms":null,"cross_references":"MeSH; D006319.","definition":"A form of sensorineural hearing loss. Sensorineural deafness 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. DFNA34 is a postlingual, slowly progressive form with variable severity and variable additional features. Some DFNA34 patients have autoinflammatory manifestations. ","keywords":"KW-1010:Non-syndromic deafness.; "},{"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":"Corneal dystrophy, Meesmann 2.","acronym":"MECD2.","accession":"DI-05754","synonyms":null,"cross_references":"MeSH; D053559.","definition":"A form of Meesmann corneal dystrophy, a corneal disease characterized by fragility of the anterior corneal epithelium. Histological examination shows a disorganized and thickened epithelium with widespread cytoplasmic vacuolation and numerous small, round, debris- laden intraepithelial cysts. Patients are usually asymptomatic until adulthood when rupture of the corneal microcysts may cause erosions, producing clinical symptoms such as photophobia, contact lens intolerance and intermittent diminution of visual acuity. Rarely, subepithelial scarring causes irregular corneal astigmatism and permanent visual impairment. MECD2 inheritance is autosomal dominant. ","keywords":"KW-1212:Corneal dystrophy.; "},{"identifier":"Alpha-fetoprotein deficiency.","acronym":"AFPD.","accession":"DI-04204","synonyms":null,"cross_references":"MeSH; D008661.","definition":"A benign condition characterized by undetectable AFP levels in the amniotic fluid. Affected individuals are asymptomatic and present normal development. ","keywords":null},{"identifier":"Intellectual developmental disorder, autosomal recessive 39.","acronym":"MRT39.","accession":"DI-03963","synonyms":null,"cross_references":"MeSH; D008607.","definition":"A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT39 affected individuals show delayed psychomotor development, severe speech delay, short stature, kyphoscoliosis, and dysmorphic facial features. Behavioral abnormalities include hyperactivity, aggression, and stereotypic movements. ","keywords":"KW-0991:Intellectual disability.; "}]}