Human Disease List
GET /api/human_diseases/?format=api&offset=4000&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4020&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3980&ordering=-identifier", "results": [ { "identifier": "Heterotaxy, visceral, 7, autosomal.", "acronym": "HTX7.", "accession": "DI-04636", "synonyms": null, "cross_references": "MeSH; D059446.", "definition": "A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. HTX7 inheritance is autosomal recessive. ", "keywords": "KW-1056:Heterotaxy.; " }, { "identifier": "Heterotaxy, visceral, 6, autosomal.", "acronym": "HTX6.", "accession": "DI-03502", "synonyms": null, "cross_references": "MeSH; D059446.", "definition": "A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. HTX6 clinical features are situs inversus totalis and severe complex cardiac malformations including unbalanced atrioventricular canal defects, transposition of the great arteries with severe pulmonary stenosis, right aortic arch, abnormal systemic venous return and total anomalous pulmonary venous drainage. ", "keywords": "KW-1056:Heterotaxy.; " }, { "identifier": "Heterotaxy, visceral, 5, autosomal.", "acronym": "HTX5.", "accession": "DI-01030", "synonyms": "Situs inversus viscerum.; SIV.; ", "cross_references": "MeSH; D059446.", "definition": "An autosomal dominant form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. HTX5 clinical features include situs inversus viscerum or situs ambiguus, congenital heart defect, transposition of the great vessels ventricular septal defect, atrial septal defect, truncus communis, and dextrocardia. ", "keywords": "KW-1056:Heterotaxy.; " }, { "identifier": "Heterotaxy, visceral, 4, autosomal.", "acronym": "HTX4.", "accession": "DI-01884", "synonyms": "Left-right axis malformations.; ", "cross_references": "MeSH; D059446.", "definition": "A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. HTX4 clinical features include dextrocardia, right aortic arch and a right-sided spleen, anomalies of the inferior and the superior vena cava, atrial ventricular canal defect with dextro- transposed great arteries, pulmonary stenosis, polysplenia and midline liver. ", "keywords": "KW-1056:Heterotaxy.; " }, { "identifier": "Heterotaxy, visceral, 2, autosomal.", "acronym": "HTX2.", "accession": "DI-02413", "synonyms": null, "cross_references": "MeSH; D059446.", "definition": "A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. ", "keywords": "KW-1056:Heterotaxy.; " }, { "identifier": "Heterotaxy, visceral, 1, X-linked.", "acronym": "HTX1.", "accession": "DI-02463", "synonyms": "Dextrocardia with other cardiac malformations.; Laterality X-linked.; Situs inversus with complex cardiac defects and splenic defects X-linked.; ", "cross_references": "MeSH; D059446.", "definition": "A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. ", "keywords": "KW-1056:Heterotaxy.; " }, { "identifier": "Heterotaxy, visceral, 12, autosomal.", "acronym": "HTX12.", "accession": "DI-06243", "synonyms": null, "cross_references": "MeSH; D059446.", "definition": "A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. Early death may occur. HTX12 inheritance is autosomal recessive. ", "keywords": "KW-1056:Heterotaxy.; " }, { "identifier": "Heterotaxy, visceral, 11, autosomal, with male infertility.", "acronym": "HTX11.", "accession": "DI-06267", "synonyms": null, "cross_references": "MeSH; D059446.", "definition": "A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. HTX11 is an autosomal recessive form associated with male infertility due to reduced flagellar motility. ", "keywords": "KW-1056:Heterotaxy.; " }, { "identifier": "Heterotaxy, visceral, 10, autosomal, with male infertility.", "acronym": "HTX10.", "accession": "DI-06266", "synonyms": null, "cross_references": "MeSH; D059446.", "definition": "A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. HTX10 is an autosomal recessive form associated with male infertility. ", "keywords": "KW-1056:Heterotaxy.; " }, { "identifier": "Hermansky-Pudlak syndrome 9.", "acronym": "HPS9.", "accession": "DI-03187", "synonyms": "Albinism with hemorrhagic diathesis and pigmented reticuloendothelial.; Delta storage pool disease.; ", "cross_references": "MeSH; D022861.", "definition": "A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. ", "keywords": "KW-0363:Hermansky-Pudlak syndrome.; " }, { "identifier": "Hermansky-Pudlak syndrome 8.", "acronym": "HPS8.", "accession": "DI-00564", "synonyms": "Albinism with hemorrhagic diathesis and pigmented reticuloendothelial.; Delta storage pool disease.; ", "cross_references": "MeSH; D022861.", "definition": "A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. ", "keywords": "KW-0363:Hermansky-Pudlak syndrome.; " }, { "identifier": "Hermansky-Pudlak syndrome 7.", "acronym": "HPS7.", "accession": "DI-00563", "synonyms": "Albinism with hemorrhagic diathesis and pigmented reticuloendothelial.; Delta storage pool disease.; ", "cross_references": "MeSH; D022861.", "definition": "A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. ", "keywords": "KW-0363:Hermansky-Pudlak syndrome.; " }, { "identifier": "Hermansky-Pudlak syndrome 6.", "acronym": "HPS6.", "accession": "DI-00562", "synonyms": "Albinism with hemorrhagic diathesis and pigmented reticuloendothelial.; Delta storage pool disease.; ", "cross_references": "MeSH; D022861.", "definition": "A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. ", "keywords": "KW-0363:Hermansky-Pudlak syndrome.; " }, { "identifier": "Hermansky-Pudlak syndrome 5.", "acronym": "HPS5.", "accession": "DI-00561", "synonyms": "Albinism with hemorrhagic diathesis and pigmented reticuloendothelial.; Delta storage pool disease.; ", "cross_references": "MeSH; D022861.", "definition": "A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. ", "keywords": "KW-0363:Hermansky-Pudlak syndrome.; " }, { "identifier": "Hermansky-Pudlak syndrome 4.", "acronym": "HPS4.", "accession": "DI-00560", "synonyms": "Albinism with hemorrhagic diathesis and pigmented reticuloendothelial.; Delta storage pool disease.; ", "cross_references": "MeSH; D022861.", "definition": "A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. ", "keywords": "KW-0363:Hermansky-Pudlak syndrome.; " }, { "identifier": "Hermansky-Pudlak syndrome 3.", "acronym": "HPS3.", "accession": "DI-00559", "synonyms": "Albinism with hemorrhagic diathesis and pigmented reticuloendothelial.; Delta storage pool disease.; ", "cross_references": "MeSH; D022861.", "definition": "A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. ", "keywords": "KW-0363:Hermansky-Pudlak syndrome.; " }, { "identifier": "Hermansky-Pudlak syndrome 2.", "acronym": "HPS2.", "accession": "DI-00558", "synonyms": "Albinism with hemorrhagic diathesis and pigmented reticuloendothelial.; Delta storage pool disease.; ", "cross_references": "MeSH; D022861.", "definition": "A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. HPS2 differs from the other forms of HPS in that it includes immunodeficiency in its phenotype and patients with HPS2 have an increased susceptibility to infections. ", "keywords": "KW-0363:Hermansky-Pudlak syndrome.; " }, { "identifier": "Hermansky-Pudlak syndrome 11.", "acronym": "HPS11.", "accession": "DI-06004", "synonyms": null, "cross_references": "MeSH; D022861.", "definition": "A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. ", "keywords": "KW-0363:Hermansky-Pudlak syndrome.; " }, { "identifier": "Hermansky-Pudlak syndrome 10.", "acronym": "HPS10.", "accession": "DI-04775", "synonyms": null, "cross_references": "MeSH; D022861.", "definition": "A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. HPS10 patients manifest albinism, neutropenia, immunodeficiency, neurodevelopmental delay, generalized seizures, and impaired hearing. ", "keywords": "KW-0363:Hermansky-Pudlak syndrome.; " }, { "identifier": "Hermansky-Pudlak syndrome 1.", "acronym": "HPS1.", "accession": "DI-00557", "synonyms": "Albinism with hemorrhagic diathesis and pigmented reticuloendothelial.; Delta storage pool disease.; ", "cross_references": "MeSH; D022861.", "definition": "A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. ", "keywords": "KW-0363:Hermansky-Pudlak syndrome.; " } ] }