{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4040&ordering=-identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4000&ordering=-identifier","results":[{"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":"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 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 non-polyposis colorectal cancer 6.","acronym":"HNPCC6.","accession":"DI-00555","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 neutrophilia.","acronym":"NEUTROPHILIA.","accession":"DI-02545","synonyms":null,"cross_references":"MeSH; D007964.","definition":"A form of lifelong, persistent neutrophilia, a condition characterized by an increase in the number of neutrophils in the blood. ","keywords":null},{"identifier":"Hereditary neuropathy with liability to pressure palsies.","acronym":"HNPP.","accession":"DI-00546","synonyms":"Familial recurrent polyneuropathy.; Tomaculous neuropathy.; ","cross_references":"MeSH; D011115.","definition":"A neurologic disorder characterized by transient episodes of decreased perception or peripheral nerve palsies after slight traction, compression or minor traumas. ","keywords":"KW-0622:Neuropathy.; "},{"identifier":"Hereditary neuralgic amyotrophy.","acronym":"HNA.","accession":"DI-01728","synonyms":"Hereditary brachial plexus neuropathy.; Hereditary neuralgic amyotrophy with predilection for brachial plexus.; NAPB.; Neuritis with brachial predilection.; ","cross_references":"MedGen; C1834304.","definition":"Autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm. HNA is triggered by environmental factors such as infection or parturition. ","keywords":null},{"identifier":"Hereditary multiple exostoses 2.","acronym":"EXT2.","accession":"DI-01726","synonyms":null,"cross_references":"MedGen; C1851413.","definition":"EXT is a genetically heterogeneous bone disorder caused by genes segregating on human chromosomes 8, 11, and 19 and designated EXT1, EXT2 and EXT3 respectively. EXT is a dominantly inherited skeletal disorder primarily affecting endochondral bone during growth. The disease is characterized by formation of numerous cartilage-capped, benign bone tumors (osteocartilaginous exostoses or osteochondromas) that are often accompanied by skeletal deformities and short stature. In a small percentage of cases exostoses have exhibited malignant transformation resulting in an osteosarcoma or chondrosarcoma. Osteochondromas development can also occur as a sporadic event. ","keywords":null},{"identifier":"Hereditary multiple exostoses 1.","acronym":"EXT1.","accession":"DI-01725","synonyms":null,"cross_references":"MedGen; C0015306.","definition":"EXT is a genetically heterogeneous bone disorder caused by genes segregating on human chromosomes 8, 11, and 19 and designated EXT1, EXT2 and EXT3 respectively. EXT is a dominantly inherited skeletal disorder primarily affecting endochondral bone during growth. The disease is characterized by formation of numerous cartilage-capped, benign bone tumors (osteocartilaginous exostoses or osteochondromas) that are often accompanied by skeletal deformities and short stature. In a small percentage of cases exostoses have exhibited malignant transformation resulting in an osteosarcoma or chondrosarcoma. Osteochondromas development can also occur as a sporadic event. ","keywords":null},{"identifier":"Hereditary leiomyomatosis and renal cell cancer.","acronym":"HLRCC.","accession":"DI-02003","synonyms":"Leiomyoma multiple cutaneous.; Leiomyomatosis and renal cell cancer hereditary.; LRCC.; MCL.; MCUL1.; Multiple cutaneous and uterine leiomyomata.; Multiple cutaneous and uterine leiomyomata 1 with or without renal cell carcinoma.; ","cross_references":"MeSH; D018231.","definition":"A disorder characterized by predisposition to cutaneous and uterine leiomyomas, and papillary type 2 renal cancer which occurs in about 20% of patients. ","keywords":null},{"identifier":"Hereditary intrinsic factor deficiency.","acronym":"IFD.","accession":"DI-01720","synonyms":"Congenital pernicious anemia.; ","cross_references":"MedGen; C1394891.","definition":"Autosomal recessive disorder characterized by megaloblastic anemia. ","keywords":null},{"identifier":"Hereditary hypophosphatemic rickets with hypercalciuria.","acronym":"HHRH.","accession":"DI-01719","synonyms":null,"cross_references":"MedGen; C0342645.","definition":"Autosomal recessive form of hypophosphatemia characterized by reduced renal phosphate reabsorption and rickets. Increased serum levels of 1,25-dihydroxyvitamin D lead to increase in urinary calcium excretion. ","keywords":null},{"identifier":"Hereditary fructose intolerance.","acronym":"HFI.","accession":"DI-01713","synonyms":null,"cross_references":"MedGen; C0016751.","definition":"Autosomal recessive disease that results in an inability to metabolize fructose and related sugars. Complete exclusion of fructose results in dramatic recovery; however, if not treated properly, HFI subjects suffer episodes of hypoglycemia, general ill condition, and risk of death the remainder of life. ","keywords":null},{"identifier":"Hereditary folate malabsorption.","acronym":"HFM.","accession":"DI-01712","synonyms":null,"cross_references":"MedGen; C0342705.","definition":"Rare autosomal recessive disorder characterized by impaired intestinal folate absorption with folate deficiency resulting in anemia, hypoimmunoglobulinemia with recurrent infections, and recurrent or chronic diarrhea. In many patients, neurological abnormalities such as seizures or intellectual disability become apparent during early childhood, attributed to impaired transport of folates into the central nervous system. When diagnosed early, the disorder can be treated by administration of folate. If untreated, it can be fatal and, if treatment is delayed, the neurological defects can become permanent. ","keywords":null},{"identifier":"Hereditary coproporphyria.","acronym":"HCP.","accession":"DI-00545","synonyms":"Coproporphyrinogen oxidase deficiency.; CPO deficiency.; CPOX deficiency.; CPRO deficiency.; ","cross_references":"MeSH; D046349.","definition":"A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. Hereditary coproporphyria is an acute hepatic porphyria characterized by skin photosensitivity, attacks of abdominal pain, neurological disturbances, and psychiatric symptoms. Most attacks are precipitated by drugs, alcohol, caloric deprivation, infections, or endocrine factors. Hereditary coproporphyria is biochemically characterized by overexcretion of coproporphyrin III in the urine and in the feces. ","keywords":null},{"identifier":"Hereditary angiopathy with nephropathy aneurysms and muscle cramps.","acronym":"HANAC.","accession":"DI-01710","synonyms":null,"cross_references":"MedGen; C2673195.","definition":"The clinical renal manifestations include hematuria and bilateral large cysts. Histologic analysis revealed complex basement membrane defects in kidney and skin. The systemic angiopathy appears to affect both small vessels and large arteries. ","keywords":null},{"identifier":"Hepatorenocardiac degenerative fibrosis.","acronym":"HRCDF.","accession":"DI-06436","synonyms":null,"cross_references":"MeSH; D024741.","definition":"An autosomal recessive disorder characterized by progressive degenerative liver fibrosis, fibrocystic kidney disease, and hypertrophic cardiomyopathy with atypical fibrotic patterns on histopathology. Disease onset is variable, ranging from childhood to adulthood. ","keywords":"KW-1186:Ciliopathy.; "},{"identifier":"Hepatoerythropoietic porphyria.","acronym":"HEP.","accession":"DI-00542","synonyms":null,"cross_references":"MeSH; D017121.","definition":"A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. HEP is a cutaneous porphyria that presents in infancy. It is characterized biochemically by excessive excretion of acetate-substituted porphyrins and accumulation of protoporphyrin in erythrocytes. Uroporphyrinogen decarboxylase levels are very low in erythrocytes and cultured skin fibroblasts. ","keywords":null},{"identifier":"Hepatocellular carcinoma.","acronym":"HCC.","accession":"DI-01708","synonyms":"Hepatocellular cancer.; Hepatoma.; LCC.; Liver cancer.; Liver cell carcinoma.; ","cross_references":"MeSH; D006528.","definition":"A primary malignant neoplasm of epithelial liver cells. The major risk factors for HCC are chronic hepatitis B virus (HBV) infection, chronic hepatitis C virus (HCV) infection, prolonged dietary aflatoxin exposure, alcoholic cirrhosis, and cirrhosis due to other causes. ","keywords":null},{"identifier":"Hepatitis, fulminant viral.","acronym":"FVH.","accession":"DI-05641","synonyms":null,"cross_references":"MeSH; D017114.","definition":"An autosomal recessive form of fulminant viral hepatitis, a disease that strikes otherwise healthy individuals during primary infection with common liver-tropic viruses. FVH is characterized by severe liver destruction in the absence of a preexisting liver disorder, leading to encephalopathy within 8 weeks of the onset of the first symptoms. ","keywords":null}]}