Human Disease List
GET /api/human_diseases/?format=api&offset=4780&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4800&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4760&ordering=-identifier", "results": [ { "identifier": "Diarrhea 11, malabsorptive, congenital.", "acronym": "DIAR11.", "accession": "DI-05692", "synonyms": "IDIS.; Intractable diarrhea of infancy syndrome.; ", "cross_references": "MeSH; D003968.", "definition": "A disease characterized by severe, life-threatening watery diarrhea associated with generalized malabsorption and a paucity of enteroendocrine cells. DIAR11 is characterized by onset of intractable diarrhea within the first few weeks of life. ", "keywords": null }, { "identifier": "Diarrhea 10, protein-losing enteropathy type.", "acronym": "DIAR10.", "accession": "DI-05384", "synonyms": null, "cross_references": "MeSH; D003968.", "definition": "An autosomal recessive, congenital diarrheal disorder characterized by intractable secretory diarrhea with massive protein loss due to leaky fenestrated capillaries, severe hypoalbuminemia, hypogammaglobulinemia, hypertriglyceridemia, and electrolyte abnormalities. Disease severity is variable and death in infancy may occur in severe cases. Some patients show facial dysmorphic features, and cardiac and renal abnormalities. ", "keywords": null }, { "identifier": "Diaphyseal medullary stenosis with malignant fibrous histiocytoma.", "acronym": "DMSMFH.", "accession": "DI-03464", "synonyms": "BDMF.; Bone dysplasia with malignant fibrous histiocytoma.; Bone dysplasia with medullary fibrosarcoma.; DMS-MFH.; Limb-girdle myopathy with bone fragility.; ", "cross_references": "MeSH; D051677.", "definition": "An autosomal dominant bone dysplasia characterized by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis. The fractures heal poorly, and there is progressive bowing of the lower extremities. Some patients show a limb-girdle myopathy, with muscle weakness and atrophy. Approximately 35% of affected individuals develop an aggressive form of bone sarcoma consistent with malignant fibrous histiocytoma or osteosarcoma. ", "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": "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 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": "Diaphanospondylodysostosis.", "acronym": "DSD.", "accession": "DI-03157", "synonyms": "Defect in vertebral ossification with nephrogenic rests.; ", "cross_references": "MeSH; D004413.", "definition": "A rare, recessively inherited, perinatal lethal skeletal disorder. The primary skeletal characteristics of the phenotype include a small chest, abnormal vertebral segmentation, and posterior rib gaps containing incompletely differentiated mesenchymal tissue. Consistent craniofacial features include ocular hypertelorism, epicanthal folds, a depressed nasal bridge with a short nose, and low-set ears. The most commonly described extraskeletal finding is nephroblastomatosis with cystic kidneys, but other visceral findings have been described in some cases. ", "keywords": null }, { "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": "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 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 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 6.", "acronym": "DBA6.", "accession": "DI-00396", "synonyms": "Aase-Smith syndrome II.; Aase syndrome.; ", "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 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": "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 3.", "acronym": "DBA3.", "accession": "DI-00393", "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 21.", "acronym": "DBA21.", "accession": "DI-06526", "synonyms": null, "cross_references": "MeSH; D029503.", "definition": "An autosomal recessive 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. DBA21 patients manifest bone marrow failure, short stature, facial and acromelic dysmorphic features, and intellectual disability. ", "keywords": "KW-1024:Diamond-Blackfan anemia.; " }, { "identifier": "Diamond-Blackfan anemia 20.", "acronym": "DBA20.", "accession": "DI-05474", "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. DBA20 inheritance is autosomal dominant. ", "keywords": "KW-1024:Diamond-Blackfan anemia.; " }, { "identifier": "Diamond-Blackfan anemia 19.", "acronym": "DBA19.", "accession": "DI-05473", "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. DBA19 inheritance is autosomal dominant. ", "keywords": "KW-1024:Diamond-Blackfan anemia.; " }, { "identifier": "Diamond-Blackfan anemia 18.", "acronym": "DBA18.", "accession": "DI-05472", "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. DBA18 inheritance is autosomal dominant. ", "keywords": "KW-1024:Diamond-Blackfan anemia.; " }, { "identifier": "Diamond-Blackfan anemia 17.", "acronym": "DBA17.", "accession": "DI-04959", "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.; " } ] }