{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2720","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2680","results":[{"identifier":"Hereditary non-polyposis colorectal cancer 7.","acronym":"HNPCC7.","accession":"DI-00556","synonyms":null,"cross_references":"MeSH; D003123.","definition":"An autosomal dominant disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early-onset colorectal carcinoma (CRC) and extra- colonic tumors of the gastrointestinal, urological and female reproductive tracts. HNPCC is reported to be the most common form of inherited colorectal cancer in the Western world. Clinically, HNPCC is often divided into two subgroups. Type I is characterized by hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II is characterized by increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical HNPCC is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term 'suspected HNPCC' or 'incomplete HNPCC' can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected. ","keywords":"KW-0362:Hereditary nonpolyposis colorectal cancer.; "},{"identifier":"Hereditary pyropoikilocytosis.","acronym":"HPP.","accession":"DI-01737","synonyms":null,"cross_references":"MedGen; C0520739.","definition":"Autosomal recessive hematologic disorder characterized by hemolytic anemia, microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells. ","keywords":null},{"identifier":"Hereditary susceptibility to Wilms tumor 5.","acronym":"WT5.","accession":"DI-01738","synonyms":null,"cross_references":"MedGen; C1832099.","definition":"Pediatric malignancy of kidney and one of the most common solid cancers in childhood. ","keywords":null},{"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.; "},{"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 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 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 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 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 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 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 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 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 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":"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":"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, 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, 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, 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, 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.; "}]}