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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1160&ordering=-synonyms",
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"results": [
{
"identifier": "Ciliary dyskinesia, primary, 50.",
"acronym": "CILD50.",
"accession": "DI-06669",
"synonyms": null,
"cross_references": "MeSH; D002925.",
"definition": "A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD50 is an autosomal recessive form characterized by chronic sinusitis and bronchitis as well as male infertility. Patient sperm have markedly reduced progressive motility, and multiple morphologic abnormalities of the flagella. ",
"keywords": "KW-0990:Primary ciliary dyskinesia.; "
},
{
"identifier": "Ciliary dyskinesia, primary, 51.",
"acronym": "CILD51.",
"accession": "DI-06701",
"synonyms": null,
"cross_references": "MeSH; D002925.",
"definition": "A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD51 is an autosomal recessive form characterized by male infertility due to multiple morphologic abnormalities of the sperm flagella, resulting in severely reduced progressive motility. Affected individuals have recurrent upper and lower respiratory infections, and some exhibit dextrocardia and/or situs inversus. ",
"keywords": "KW-0990:Primary ciliary dyskinesia.; "
},
{
"identifier": "Basal ganglia calcification, idiopathic, 6.",
"acronym": "IBGC6.",
"accession": "DI-04453",
"synonyms": null,
"cross_references": "MeSH; D002114.",
"definition": "A form of basal ganglia calcification, an autosomal dominant condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas. ",
"keywords": null
},
{
"identifier": "Ciliary dyskinesia, primary, 53.",
"acronym": "CILD53.",
"accession": "DI-06809",
"synonyms": null,
"cross_references": "MeSH; D007619.",
"definition": "A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Some patients exhibit randomization of left- right body asymmetry and situs inversus. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD53 is an autosomal recessive form characterized by randomization of the left-right body asymmetry and respiratory symptoms. ",
"keywords": "KW-1012:Kartagener syndrome.; "
},
{
"identifier": "Birk-Landau-Perez syndrome.",
"acronym": "BILAPES.",
"accession": "DI-05046",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal recessive syndrome characterized by early-childhood onset of different combinations of intellectual disability, muscle weakness, camptocormia, oculomotor apraxia, and nephropathy. ",
"keywords": null
},
{
"identifier": "Deafness, autosomal recessive, 74.",
"acronym": "DFNB74.",
"accession": "DI-02958",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic sensorineural deafness characterized by prelingual, bilateral, profound hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Basal ganglia calcification, idiopathic, 7, autosomal recessive.",
"acronym": "IBGC7.",
"accession": "DI-05477",
"synonyms": null,
"cross_references": "MeSH; D002114.",
"definition": "A form of basal ganglia calcification, a genetically heterogeneous condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas. ",
"keywords": null
},
{
"identifier": "Anemia, congenital dyserythropoietic, 3B, autosomal recessive.",
"acronym": "CDAN3B.",
"accession": "DI-06364",
"synonyms": null,
"cross_references": "MeSH; D000742.",
"definition": "An autosomal recessive blood disorder characterized by marked dyserythropoiesis, hemolytic anemia, macrocytosis in the peripheral blood, and giant multinucleated erythroblasts in the bone marrow. ",
"keywords": "KW-1055:Congenital dyserythropoietic anemia.; "
},
{
"identifier": "Basal ganglia calcification, idiopathic, 8, autosomal recessive.",
"acronym": "IBGC8.",
"accession": "DI-05778",
"synonyms": null,
"cross_references": "MeSH; D002114.",
"definition": "A form of basal ganglia calcification, a genetically heterogeneous condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas. ",
"keywords": null
},
{
"identifier": "Cone-rod dystrophy, X-linked 3.",
"acronym": "CORDX3.",
"accession": "DI-00328",
"synonyms": null,
"cross_references": "MeSH; D058499.",
"definition": "An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. ",
"keywords": "KW-0182:Cone-rod dystrophy.; "
},
{
"identifier": "Basal ganglia calcification, idiopathic, 9, autosomal recessive.",
"acronym": "IBGC9.",
"accession": "DI-06885",
"synonyms": null,
"cross_references": "MeSH; D002114.",
"definition": "A form of basal ganglia calcification, a genetically heterogeneous condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas. ",
"keywords": null
},
{
"identifier": "CK syndrome.",
"acronym": "CKS.",
"accession": "DI-03007",
"synonyms": null,
"cross_references": "MeSH; D038901.",
"definition": "An X-linked recessive disorder characterized by mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Cortical dysplasia, complex, with other brain malformations 6.",
"acronym": "CDCBM6.",
"accession": "DI-04083",
"synonyms": null,
"cross_references": "MeSH; D054081.",
"definition": "A disorder of aberrant neuronal migration and disturbed axonal guidance. Affected individuals have microcephaly, ataxia, and severe delayed psychomotor development. Brain imaging shows variable malformations of cortical development, including white matter streaks, dysmorphic basal ganglia, corpus callosum abnormalities, brainstem and cerebellar hypoplasia, cortical dysplasia, polymicrogyria. ",
"keywords": null
},
{
"identifier": "Developmental and epileptic encephalopathy 112.",
"acronym": "DEE112.",
"accession": "DI-06775",
"synonyms": null,
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE112 is an autosomal dominant form characterized by onset in infancy, and a wide range of seizure types including focal and generalized seizures. Cognitive outcomes range from normal intellect to profound intellectual development impairment. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Deafness, dystonia, and cerebral hypomyelination.",
"acronym": "DDCH.",
"accession": "DI-03930",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An X-linked recessive syndrome characterized by sensorineural deafness, intellectual disability, dysmorphic facial features, dystonia, pyramidal signs, almost no psychomotor development, and hypomyelination on brain imaging. ",
"keywords": "KW-0209:Deafness.; KW-0991:Intellectual disability.; KW-1023:Dystonia.; "
},
{
"identifier": "Dyskeratosis congenita, autosomal recessive, 5.",
"acronym": "DKCB5.",
"accession": "DI-03755",
"synonyms": null,
"cross_references": "MeSH; D019871.",
"definition": "A form of dyskeratosis congenita, a rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. DKCB5 is characterized by onset of bone marrow failure and immunodeficiency in early childhood. Most patients also have growth and developmental delay and cerebellar hypoplasia, consistent with a clinical diagnosis of Hoyeraal-Hreidarsson syndrome. ",
"keywords": "KW-1011:Dyskeratosis congenita.; "
},
{
"identifier": "Cortisone reductase deficiency 2.",
"acronym": "CORTRD2.",
"accession": "DI-05184",
"synonyms": null,
"cross_references": "MeSH; D008661.",
"definition": "An autosomal dominant error of cortisone metabolism characterized by a failure to regenerate cortisol from cortisone, resulting in increased cortisol clearance, activation of the hypothalamic- pituitary axis and ACTH-mediated adrenal androgen excess. Clinical features include hyperandrogenism resulting in hirsutism, oligo- amenorrhea, and infertility in females and premature pseudopuberty in males. ",
"keywords": null
},
{
"identifier": "Combined cellular and humoral immune defects with granulomas.",
"acronym": "CHIDG.",
"accession": "DI-01360",
"synonyms": null,
"cross_references": "MedGen; C2673536.",
"definition": "Immunodeficiency disease with granulomas in the skin, mucous membranes, and internal organs. Other characteristics include hypogammaglobulinemia, a diminished number of T and B-cells, and sparse thymic tissue on ultrasonography. ",
"keywords": null
},
{
"identifier": "Cleft palate, proliferative retinopathy, and developmental delay.",
"acronym": "CPPRDD.",
"accession": "DI-05947",
"synonyms": null,
"cross_references": "MeSH; D002972.",
"definition": "An autosomal recessive disorder characterized by mild to severe intellectual disability with delayed or absent speech, hypotonia, cleft palate, proliferative retinopathy, and combined sensorineural and conductive hearing loss. Brain imaging shows ventriculomegaly, widened subarachnoid spaces, partial agenesis of the corpus callosum, hypoplastic cerebellar vermis, and Dandy Walker malformation. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"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.; "
}
]
}