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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2700&ordering=-synonyms",
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"results": [
{
"identifier": "Congenital cataracts, facial dysmorphism, and neuropathy.",
"acronym": "CCFDN.",
"accession": "DI-01390",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal recessive developmental disorder characterized by a complex clinical phenotype with seemingly unrelated features involving multiple organs and systems. Developmental abnormalities include congenital cataracts and microcorneae, hypomyelination of the peripheral nervous system, impaired physical growth, delayed early motor and intellectual development, facial dysmorphism and hypogonadism. Central nervous system involvement, with cerebral and spinal cord atrophy, may be the result of disrupted development with superimposed degenerative changes. Affected individuals are prone to severe rhabdomyolysis after viral infections and to serious complications related to general anesthesia (such as pulmonary edema and epileptic seizures). ",
"keywords": "KW-0622:Neuropathy.; KW-0898:Cataract.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal dominant 57.",
"acronym": "MRD57.",
"accession": "DI-05289",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD57 is characterized by delayed psychomotor development apparent in infancy or early childhood, and a variety of behavioral abnormalities. Affected individuals may have severe gastro-intestinal problems, and facial dysmorphism. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Congenital contractures of the limbs and face, hypotonia, and developmental delay.",
"acronym": "CLIFAHDD.",
"accession": "DI-04355",
"synonyms": null,
"cross_references": "MeSH; D001176.",
"definition": "A disease characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, abnormal tone, most commonly manifested as hypotonia, and variable degrees of developmental delay. ",
"keywords": null
},
{
"identifier": "Intellectual developmental disorder, autosomal dominant 5.",
"acronym": "MRD5.",
"accession": "DI-00713",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD5 patients show global developmental delay with delayed motor development, hypotonia, moderate-to-severe intellectual disability, and severe language impairment. Epilepsy and autism can be present in some patients. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition.",
"acronym": "MVA7.",
"accession": "DI-06585",
"synonyms": null,
"cross_references": "MeSH; D025063.",
"definition": "A form of mosaic variegated aneuploidy syndrome, a severe disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor and leukemia reported in several cases. MVA7 is an autosomal recessive form characterized by increased susceptibility to benign and malignant neoplasms beginning in early childhood. Affected individuals show dysmorphic facies and may have early developmental delay. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 20.",
"acronym": "IMD20.",
"accession": "DI-04050",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "A rare autosomal recessive primary immunodeficiency characterized by functional deficiency of NK cells. Affected individuals typically present with severe herpes viral infections, particularly Epstein Barr virus (EBV), and human papillomavirus (HPV). ",
"keywords": null
},
{
"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": "Brachydactyly E2.",
"acronym": "BDE2.",
"accession": "DI-02711",
"synonyms": null,
"cross_references": "MeSH; D059327.",
"definition": "A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. Brachydactyly type E is characterized by shortening of the fingers mainly in the metacarpals and metatarsals. Wide variability in the number of digits affected occurs from person to person, even in the same family. Some individuals are moderately short of stature. In brachydactyly type E2 variable combinations of metacarpals are involved, with shortening also of the first and third distal and the second and fifth middle phalanges. ",
"keywords": null
},
{
"identifier": "Aortic aneurysm, familial abdominal.",
"acronym": "AAA.",
"accession": "DI-00126",
"synonyms": null,
"cross_references": "MeSH; D017544.",
"definition": "A common multifactorial disorder characterized by permanent dilation of the abdominal aorta, usually due to degenerative changes in the aortic wall. Histologically, AAA is characterized by signs of chronic inflammation, destructive remodeling of the extracellular matrix, and depletion of vascular smooth muscle cells. ",
"keywords": "KW-0993:Aortic aneurysm.; "
},
{
"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": "Hypoplastic left heart syndrome 1.",
"acronym": "HLHS1.",
"accession": "DI-01799",
"synonyms": null,
"cross_references": "MeSH; D018636.",
"definition": "A syndrome due to defective development of the aorta proximal to the entrance of the ductus arteriosus, and hypoplasia of the left ventricle and mitral valve. As a result of the abnormal circulation, the ductus arteriosus and foramen ovale are patent and the right atrium, right ventricle, and pulmonary artery are enlarged. ",
"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": "Brachydactyly-syndactyly-oligodactyly syndrome.",
"acronym": "BDSDO.",
"accession": "DI-04740",
"synonyms": null,
"cross_references": "MeSH; D059327.",
"definition": "A syndrome characterized by a complex brachydactyly-syndactyly- oligodactyly phenotype. Limb anomalies include reduced number of digits that are severely shortened, camptodactyly, syndactyly, absence of terminal phalanges of the thumbs, and absence of nails of the thumbs and toes. ",
"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": "Rhabdoid tumor predisposition syndrome 2.",
"acronym": "RTPS2.",
"accession": "DI-02895",
"synonyms": null,
"cross_references": "MeSH; D018335.",
"definition": "A familial cancer syndrome predisposing to renal or extrarenal malignant rhabdoid tumors and to a variety of tumors of the central nervous system, including choroid plexus carcinoma, medulloblastoma, and central primitive neuroectodermal tumors. Rhabdoid tumors are the most aggressive and lethal malignancies occurring in early childhood. ",
"keywords": null
}
]
}