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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1120&ordering=-synonyms",
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"results": [
{
"identifier": "Bardet-Biedl syndrome 8.",
"acronym": "BBS8.",
"accession": "DI-00166",
"synonyms": null,
"cross_references": "MeSH; D020788.",
"definition": "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. ",
"keywords": "KW-0083:Bardet-Biedl syndrome.; KW-0550:Obesity.; "
},
{
"identifier": "Diamond-Blackfan anemia 3.",
"acronym": "DBA3.",
"accession": "DI-00393",
"synonyms": null,
"cross_references": "MeSH; D029503.",
"definition": "A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond- Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of developing leukemia. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. ",
"keywords": "KW-1024:Diamond-Blackfan anemia.; "
},
{
"identifier": "Bardet-Biedl syndrome 9.",
"acronym": "BBS9.",
"accession": "DI-00167",
"synonyms": null,
"cross_references": "MeSH; D020788.",
"definition": "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. ",
"keywords": "KW-0083:Bardet-Biedl syndrome.; KW-0550:Obesity.; "
},
{
"identifier": "Deafness, autosomal dominant, 75.",
"acronym": "DFNA75.",
"accession": "DI-05761",
"synonyms": null,
"cross_references": "MeSH; D034381.",
"definition": "A form of non-syndromic deafness characterized by late-onset hearing loss that involves mid and high frequencies, and progresses to encompass all frequencies. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Glomuvenous malformations.",
"acronym": "GVMs.",
"accession": "DI-01668",
"synonyms": null,
"cross_references": "MedGen; C1841984.",
"definition": "Characterized by the presence of smooth-muscle-like glomus cells in the media surrounding distended vascular lumens. ",
"keywords": null
},
{
"identifier": "Deafness, autosomal recessive, 113.",
"acronym": "DFNB113.",
"accession": "DI-05550",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic, sensorineural deafness characterized by postlingual progressive hearing impairment. 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": "Analbuminemia.",
"acronym": "ANALBA.",
"accession": "DI-04235",
"synonyms": null,
"cross_references": "MeSH; D034141.",
"definition": "A rare autosomal recessive disorder manifested by the presence of a very low amount of circulating serum albumin. Affected individuals manifest mild edema, hypotension, fatigue, and, occasionally, lower body lipodystrophy (mainly in adult females). The most common biochemical finding is hyperlipidemia, with a significant increase in the total and LDL cholesterol concentrations, but normal concentrations of HDL cholesterol and triglycerides. ",
"keywords": null
},
{
"identifier": "Encephalopathy due to defective mitochondrial and peroxisomal fission 2.",
"acronym": "EMPF2.",
"accession": "DI-04810",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal recessive disorder characterized by delayed psychomotor development, severe hypotonia with inability to walk, microcephaly, and abnormal signals in the basal ganglia. More variable features include early-onset seizures, optic atrophy, and peripheral neuropathy. ",
"keywords": null
},
{
"identifier": "Encephalopathy, neonatal severe, due to MECP2 mutations.",
"acronym": "ENS-MECP2.",
"accession": "DI-02038",
"synonyms": null,
"cross_references": "MeSH; D001927.",
"definition": "A neurodevelopmental disorder characterized by severe neonatal encephalopathy, developmental delay, intellectual disability, microcephaly, seizures. Additional features include respiratory insufficiency and central hypoventilation, gastroesophageal reflux, axial hypotonia, hyperreflexia and dyskinetic movements. ",
"keywords": null
},
{
"identifier": "Encephalopathy, acute, infection-induced, 9.",
"acronym": "IIAE9.",
"accession": "DI-05581",
"synonyms": null,
"cross_references": "MeSH; D004684.",
"definition": "An autosomal recessive disorder characterized by infancy-onset of episodic neurodevelopmental regression in association with infection- induced febrile illness. Clinical features include poor overall growth, seizures, myoclonic jerks, microcephaly, ataxia, and cerebellar atrophy. ",
"keywords": null
},
{
"identifier": "Anauxetic dysplasia 2.",
"acronym": "ANXD2.",
"accession": "DI-04972",
"synonyms": null,
"cross_references": "MeSH; D010009.",
"definition": "An autosomal recessive spondyloepimetaphyseal dysplasia characterized by severe short stature of prenatal onset, very short adult height (less than 1 meter), hypodontia, midface hypoplasia, and mild intellectual disability. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Epilepsy, childhood absence 2.",
"acronym": "ECA2.",
"accession": "DI-00297",
"synonyms": null,
"cross_references": "MeSH; D004832.",
"definition": "A subtype of idiopathic generalized epilepsy characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic- clonic seizures often develop in adolescence. Some individuals manifest febrile seizures. Absence seizures may either remit or persist into adulthood. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Agenesis of corpus callosum, cardiac, ocular, and genital syndrome.",
"acronym": "ACOGS.",
"accession": "DI-05864",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant, syndromic neurodevelopmental disorder characterized by global developmental delay and/or intellectual disability, corpus callosum agenesis or hypoplasia, mirror movements, dysmorphic features, and ocular, cardiac, and genital anomalies. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Ciliary dyskinesia, primary, 24.",
"acronym": "CILD24.",
"accession": "DI-03916",
"synonyms": null,
"cross_references": "MeSH; D002925.",
"definition": "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. Situs inversus is not observed in CILD24 patients. ",
"keywords": "KW-0990:Primary ciliary dyskinesia.; "
},
{
"identifier": "Anauxetic dysplasia 3.",
"acronym": "ANXD3.",
"accession": "DI-05799",
"synonyms": null,
"cross_references": "MeSH; D010009.",
"definition": "An autosomal recessive skeletal dysplasia characterized by severe short stature, brachydactyly, skin laxity, joint hypermobility and dislocations, short metacarpals, broad middle phalanges, and metaphyseal irregularities. Most patients also exhibit motor and cognitive delays. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Endometrial cancer.",
"acronym": "ENDMC.",
"accession": "DI-01526",
"synonyms": null,
"cross_references": "MeSH; D016889.",
"definition": "A malignancy of endometrium, the mucous lining of the uterus. Most endometrial cancers are adenocarcinomas, cancers that begin in cells that make and release mucus and other fluids. ",
"keywords": null
},
{
"identifier": "Cone dystrophy 4.",
"acronym": "COD4.",
"accession": "DI-02491",
"synonyms": null,
"cross_references": "MeSH; D058499.",
"definition": "An early-onset cone dystrophy. Cone dystrophies are retinal dystrophies characterized by progressive degeneration of the cone photoreceptors with preservation of rod function, as indicated by electroretinogram. However, some rod involvement may be present in some cone dystrophies, particularly at late stage. Affected individuals suffer from photophobia, loss of visual acuity, color vision and central visual field. Another sign is the absence of macular lesions for many years. Cone dystrophies are distinguished from the cone-rod dystrophies in which some loss of peripheral vision also occurs. ",
"keywords": null
},
{
"identifier": "Fibrosis of extraocular muscles, congenital, 5.",
"acronym": "CFEOM5.",
"accession": "DI-04337",
"synonyms": null,
"cross_references": "MeSH; D009886.",
"definition": "An ocular motility disorder characterized by congenital dysinnervation of various cranial nerves to ocular muscles. Clinical features are ophthalmoplegia, anchoring of the eyes in downward gaze, ptosis, and backward tilt of the head. ",
"keywords": null
},
{
"identifier": "Craniofacial dysmorphism, skeletal anomalies and impaired intellectual development syndrome 2.",
"acronym": "CFSMR2.",
"accession": "DI-06460",
"synonyms": null,
"cross_references": "MeSH; D019465.",
"definition": "An autosomal recessive disorder characterized by flat face, low-set ears, and cleft lip and palate, as well as costovertebral anomalies including bifid and fused ribs, vertebral segmentation defects, and scoliosis. Intellectual delay can be severe, with absent speech. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Growth hormone deficiency with pituitary anomalies.",
"acronym": "GHDPA.",
"accession": "DI-02581",
"synonyms": null,
"cross_references": "MeSH; D007018.",
"definition": "A disease characterized by low or absent growth hormone levels, in the presence of a hypoplastic anterior pituitary lobe and ectopic or absent posterior pituitary lobe. ",
"keywords": null
}
]
}