{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5000&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4960&ordering=synonyms","results":[{"identifier":"Diamond-Blackfan anemia 4.","acronym":"DBA4.","accession":"DI-00394","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 developing leukemia. 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 5.","acronym":"DBA5.","accession":"DI-00395","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":"Cardiomyopathy, familial hypertrophic, 18.","acronym":"CMH18.","accession":"DI-03039","synonyms":null,"cross_references":"MeSH; D024741.","definition":"A hereditary 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":"Diamond-Blackfan anemia 7.","acronym":"DBA7.","accession":"DI-00397","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 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 9.","acronym":"DBA9.","accession":"DI-02684","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":"Cardiomyopathy, familial hypertrophic, 17.","acronym":"CMH17.","accession":"DI-03038","synonyms":null,"cross_references":"MeSH; D024741.","definition":"A hereditary 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":"Diaphragmatic hernia 3.","acronym":"DIH3.","accession":"DI-01485","synonyms":null,"cross_references":"MeSH; D065630.","definition":"A form of congenital diaphragmatic hernia, a posterolateral defect of the diaphragm, generally located on the left side, that permits the herniation of abdominal viscera into the thorax. The lungs are hypoplastic and have abnormal vessels that cause respiratory insufficiency and persistent pulmonary hypertension with high mortality. About one third of cases have cardiovascular malformations and lesser proportions have skeletal, neural, genitourinary, gastrointestinal or other defects. ","keywords":null},{"identifier":"Diaphragmatic hernia 4, with cardiovascular defects.","acronym":"DIH4.","accession":"DI-06500","synonyms":null,"cross_references":"MeSH; D065630.","definition":"An autosomal recessive form of congenital diaphragmatic hernia, a posterolateral defect of the diaphragm, generally located on the left side, that permits the herniation of abdominal viscera into the thorax. The lungs are hypoplastic and have abnormal vessels that cause respiratory insufficiency and persistent pulmonary hypertension with high mortality. About one third of cases have cardiovascular malformations and lesser proportions have skeletal, neural, genitourinary, gastrointestinal or other defects. ","keywords":null},{"identifier":"Diaphragmatic hernia 5, X-linked.","acronym":"DIH5.","accession":"DI-06800","synonyms":null,"cross_references":"MeSH; D065630.","definition":"A form of congenital diaphragmatic hernia, a posterolateral defect of the diaphragm, generally located on the left side, that permits the herniation of abdominal viscera into the thorax. The lungs are hypoplastic and have abnormal vessels that cause respiratory insufficiency and persistent pulmonary hypertension with high mortality. About one third of cases have cardiovascular malformations and lesser proportions have skeletal, neural, genitourinary, gastrointestinal or other defects. DIH5 is usually transmitted in an X-linked recessive pattern with males being severely affected. Early death is frequent. ","keywords":null},{"identifier":"Cardiomyopathy, familial hypertrophic, 16.","acronym":"CMH16.","accession":"DI-03037","synonyms":null,"cross_references":"MeSH; D024741.","definition":"A hereditary 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 hypertrophic, 15.","acronym":"CMH15.","accession":"DI-02679","synonyms":null,"cross_references":"MeSH; D024741.","definition":"A hereditary 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 hypertrophic, 14.","acronym":"CMH14.","accession":"DI-02680","synonyms":null,"cross_references":"MeSH; D024741.","definition":"A hereditary 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 hypertrophic, 13.","acronym":"CMH13.","accession":"DI-02553","synonyms":null,"cross_references":"MeSH; D024741.","definition":"A hereditary 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":"Diarrhea 6.","acronym":"DIAR6.","accession":"DI-03451","synonyms":null,"cross_references":"MeSH; D003967.","definition":"A relatively mild, early-onset chronic diarrhea that may be associated with increased susceptibility to inflammatory bowel disease, small bowel obstruction, and esophagitis. ","keywords":null},{"identifier":"Diarrhea 7, protein-losing enteropathy type.","acronym":"DIAR7.","accession":"DI-04130","synonyms":null,"cross_references":"MeSH; D003968.","definition":"A life-threatening disease characterized by severe, intractable, watery diarrhea. ","keywords":null},{"identifier":"Diarrhea 8, secretory sodium, congenital.","acronym":"DIAR8.","accession":"DI-04683","synonyms":null,"cross_references":"MeSH; D003968.","definition":"A disease characterized by watery secretory diarrhea with prenatal onset, prominent abdominal distension after birth due to dilated fluid-filled loops of intestine, elevated fecal sodium concentrations and low urinary sodium concentrations. ","keywords":null},{"identifier":"Diarrhea 9.","acronym":"DIAR9.","accession":"DI-05373","synonyms":null,"cross_references":"MeSH; D003968.","definition":"An autosomal recessive form of chronic diarrhea characterized by neonatal-onset of osmotic diarrhea that is not substrate specific, abnormal crypt and villus architecture, and significant fat malabsorption evidenced by high levels of fecal fat. ","keywords":null},{"identifier":"Cardiomyopathy, familial hypertrophic, 12.","acronym":"CMH12.","accession":"DI-00242","synonyms":null,"cross_references":"MeSH; D024741.","definition":"A hereditary 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.; "}]}