HTTP 200 OK
Allow: GET, POST, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5420&ordering=synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5380&ordering=synonyms",
"results": [
{
"identifier": "Benign essential blepharospasm.",
"acronym": "BEB.",
"accession": "DI-00180",
"synonyms": null,
"cross_references": "MeSH; D001764.",
"definition": "A primary focal dystonia affecting the orbicularis oculi muscles. Dystonia is defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. BEB usually begins in middle age. Initial symptoms include eye irritation and frequent blinking, progressing to involuntary spasms of eyelid closure. Patients have normal eyes. The visual disturbance is due solely to the forced closure of the eyelids. In severe cases, this can lead to functional blindness. ",
"keywords": "KW-1023:Dystonia.; "
},
{
"identifier": "Hemorrhagic destruction of the brain with subependymal calcification and cataracts.",
"acronym": "HDBSCC.",
"accession": "DI-03021",
"synonyms": null,
"cross_references": "MeSH; D002114.",
"definition": "A syndrome characterized by congenital cataracts and severe brain abnormalities apparently resulting from hemorrhagic destruction of the brain parenchyma, including the cerebral white matter and basal ganglia. Patients manifest profound developmental delay, and other neurologic features included seizures, spasticity, and hyperreflexia. The clinical course is very severe resulting in death in infancy. Brain imaging shows multifocal intraparenchymal hemorrhage with associated liquefaction and massive cystic degeneration, and calcification in the subependymal region and in brain tissue. ",
"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": "Hennekam lymphangiectasia-lymphedema syndrome 2.",
"acronym": "HKLLS2.",
"accession": "DI-04238",
"synonyms": null,
"cross_references": "MeSH; D008209.",
"definition": "A form of Hennekam lymphangiectasia-lymphedema syndrome, a generalized lymph-vessels dysplasia characterized by intestinal lymphangiectasia with severe lymphedema of the limbs, genitalia and face. In addition, affected individuals have unusual facies and some manifest intellectual disability. HKLLS2 individuals have lymphangiectasia variably affecting the gut, pericardium, lungs, kidneys, and genitalia. Other features include camptodactyly and rare syndactyly. HKLLS2 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Hennekam lymphangiectasia-lymphedema syndrome 3.",
"acronym": "HKLLS3.",
"accession": "DI-05355",
"synonyms": null,
"cross_references": "MeSH; D008209.",
"definition": "A form of Hennekam lymphangiectasia-lymphedema syndrome, a generalized lymph-vessels dysplasia characterized by intestinal lymphangiectasia with severe lymphedema of the limbs, genitalia and face. In addition, affected individuals have unusual facies and some manifest intellectual disability. HKLLS3 is characterized by widespread congenital edema, facial dysmorphism and protein-losing enteropathy of variable severity. HKLLS3 transmission pattern is consistent with autosomal recessive inheritance. ",
"keywords": null
},
{
"identifier": "Hepatic lipase deficiency.",
"acronym": "HL deficiency.",
"accession": "DI-01706",
"synonyms": null,
"cross_references": "MeSH; D008052.",
"definition": "A disorder characterized by elevated levels of beta-migrating very low density lipoproteins, and abnormally triglyceride-rich low and high density lipoproteins. ",
"keywords": null
},
{
"identifier": "Hepatic venoocclusive disease with immunodeficiency.",
"acronym": "VODI.",
"accession": "DI-01707",
"synonyms": null,
"cross_references": "MedGen; C1856128.",
"definition": "Autosomal recessive primary immunodeficiency associated with hepatic vascular occlusion and fibrosis. The immunodeficiency is characterized by severe hypogammaglobulinemia, combined T and B-cell immunodeficiency, absent lymph node germinal centers, and absent tissue plasma cells. ",
"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
},
{
"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": "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": "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": "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 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 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 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 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 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 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
}
]
}