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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1400&ordering=-synonyms",
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"results": [
{
"identifier": "Epilepsy, idiopathic generalized 18.",
"acronym": "EIG18.",
"accession": "DI-06223",
"synonyms": null,
"cross_references": "MeSH; D004829.",
"definition": "An autosomal dominant form of idiopathic generalized epilepsy, a disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Seizure types include juvenile myoclonic seizures, absence seizures, and generalized tonic-clonic seizures. EIG18 is characterized by onset of myoclonic seizures in infancy. Although the seizures remit, some patients may have later speech or cognitive impairment. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Epileptic encephalopathy, infantile or early childhood, 1.",
"acronym": "IECEE1.",
"accession": "DI-05114",
"synonyms": null,
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of severe childhood 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. IECEE1 is an autosomal dominant condition with onset of seizures between the first weeks and first years of life. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Breast cancer, lobular.",
"acronym": "LBC.",
"accession": "DI-03803",
"synonyms": null,
"cross_references": "MeSH; D001943.",
"definition": "A type of breast cancer that begins in the milk-producing glands (lobules) of the breast. ",
"keywords": null
},
{
"identifier": "Frontotemporal dementia and/or amyotrophic lateral sclerosis 3.",
"acronym": "FTDALS3.",
"accession": "DI-04471",
"synonyms": null,
"cross_references": "MeSH; D057174.",
"definition": "A neurodegenerative disorder characterized by frontotemporal dementia and/or amyotrophic lateral sclerosis in affected individuals. There is high intrafamilial variation. Frontotemporal dementia is characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit progressive changes in social, behavioral, and/or language function. Amyotrophic lateral sclerosis is characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis. Some FTDALS3 patients may also develop Paget disease of bone. ",
"keywords": "KW-0036:Amyotrophic lateral sclerosis.; "
},
{
"identifier": "Albright hereditary osteodystrophy.",
"acronym": "AHO.",
"accession": "DI-00073",
"synonyms": null,
"cross_references": "MeSH; D011547.",
"definition": "A disorder characterized by short stature, obesity, round facies, brachydactyly and subcutaneous calcification. It is often associated with pseudohypoparathyoidism, hypocalcemia and elevated PTH levels. ",
"keywords": "KW-0242:Dwarfism.; KW-0550:Obesity.; "
},
{
"identifier": "Fanconi anemia complementation group G.",
"acronym": "FANCG.",
"accession": "DI-03136",
"synonyms": null,
"cross_references": "MeSH; D005199.",
"definition": "A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. ",
"keywords": "KW-0923:Fanconi anemia.; "
},
{
"identifier": "Congenital heart defects, multiple types, 5.",
"acronym": "CHTD5.",
"accession": "DI-05221",
"synonyms": null,
"cross_references": "MeSH; D006330.",
"definition": "A disorder characterized by congenital developmental abnormalities involving structures of the heart. Common defects include transposition of the great arteries, aortic stenosis, atrial septal defect, ventricular septal defect, pulmonic stenosis, patent ductus arteriosus, and tetralogy of Fallot. Some patients also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions. CHTD5 inheritance can be autosomal dominant or recessive. ",
"keywords": null
},
{
"identifier": "Episodic pain syndrome, familial, 3.",
"acronym": "FEPS3.",
"accession": "DI-03978",
"synonyms": null,
"cross_references": "MeSH; D010146.",
"definition": "An autosomal dominant neurologic disorder characterized by paroxysmal pain mainly affecting the distal lower extremities and occasionally the upper body, especially the joints of fingers and arms. The pain is exacerbated with fatigue. ",
"keywords": null
},
{
"identifier": "Familial spinal neurofibromatosis.",
"acronym": "FSNF.",
"accession": "DI-01598",
"synonyms": null,
"cross_references": "MedGen; C1834235.",
"definition": "Considered to be an alternative form of neurofibromatosis, showing multiple spinal tumors. ",
"keywords": null
},
{
"identifier": "Fraser syndrome 1.",
"acronym": "FRASRS1.",
"accession": "DI-01627",
"synonyms": null,
"cross_references": "MeSH; D058497.",
"definition": "A form of Fraser syndrome, an autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, and urogenital abnormalities including renal agenesis or hypoplasia. Additional features include abnormalities of the larynx, ear malformations, and facial abnormalities. ",
"keywords": null
},
{
"identifier": "Aplastic anemia.",
"acronym": "AA.",
"accession": "DI-02842",
"synonyms": null,
"cross_references": "MeSH; D000741.",
"definition": "A form of anemia in which the bone marrow fails to produce adequate numbers of peripheral blood elements. It is characterized by peripheral pancytopenia and marrow hypoplasia. ",
"keywords": null
},
{
"identifier": "Fanconi anemia, complementation group W.",
"acronym": "FANCW.",
"accession": "DI-05128",
"synonyms": null,
"cross_references": "MeSH; D005199.",
"definition": "A form of Fanconi anemia, a disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. ",
"keywords": "KW-0923:Fanconi anemia.; "
},
{
"identifier": "Breast-ovarian cancer, familial, 5.",
"acronym": "BROVCA5.",
"accession": "DI-06717",
"synonyms": null,
"cross_references": "MeSH; D010051.",
"definition": "A condition associated with familial predisposition to cancer of the breast and ovaries. Characteristic features in affected families are an early age of onset of breast cancer (often before age 50), increased chance of bilateral cancers (cancer that develop in both breasts, or both ovaries, independently), frequent occurrence of breast cancer among men, increased incidence of tumors of other specific organs, such as the prostate. ",
"keywords": null
},
{
"identifier": "D-bifunctional protein deficiency.",
"acronym": "DBPD.",
"accession": "DI-01471",
"synonyms": null,
"cross_references": "MedGen; C0342870.",
"definition": "Disorder of peroxisomal fatty acid beta-oxidation. ",
"keywords": null
},
{
"identifier": "Dystonia 27.",
"acronym": "DYT27.",
"accession": "DI-04449",
"synonyms": null,
"cross_references": "MeSH; D004421.",
"definition": "A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT27 is an autosomal recessive form characterized by segmental isolated dystonia involving the face, neck, bulbar muscles, and upper limbs. ",
"keywords": "KW-1023:Dystonia.; "
},
{
"identifier": "Dystonia 28, childhood-onset.",
"acronym": "DYT28.",
"accession": "DI-04935",
"synonyms": null,
"cross_references": "MeSH; D004421.",
"definition": "A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT28 is an autosomal dominant, progressive form characterized by onset in the first decade of life and variable severity. Dystonia begins focally in the lower limbs, resulting in gait difficulties, with later progression to other body regions, including the upper limbs, neck, and orofacial region. ",
"keywords": "KW-1023:Dystonia.; "
},
{
"identifier": "Brittle cornea syndrome 2.",
"acronym": "BCS2.",
"accession": "DI-03176",
"synonyms": null,
"cross_references": "MeSH; D004535.",
"definition": "A disorder characterized by extreme corneal thinning resulting in corneal rupture after minor trauma, blue sclerae, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobile joints. ",
"keywords": null
},
{
"identifier": "Congenital disorder of glycosylation with defective fucosylation 1.",
"acronym": "CDGF1.",
"accession": "DI-05266",
"synonyms": null,
"cross_references": "MeSH; D018981.",
"definition": "A form of congenital disorder of glycosylation, a genetically heterogeneous group of multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDGF1 is an autosomal recessive disorder, apparent from birth, characterized by poor growth, failure to thrive, hypotonia, skeletal anomalies, and delayed psychomotor development with intellectual disability. ",
"keywords": "KW-0900:Congenital disorder of glycosylation.; "
},
{
"identifier": "Congenital disorder of glycosylation with defective fucosylation 2.",
"acronym": "CDGF2.",
"accession": "DI-05480",
"synonyms": null,
"cross_references": "MeSH; D018981.",
"definition": "A form of congenital disorder of glycosylation, a genetically heterogeneous group of multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. CDGF2 is an autosomal recessive disorder, apparent from birth, characterized by hypotonia, poor feeding, severely impaired intellectual and psychomotor development, seizures with epileptic encephalopathy, visual impairment and other ocular features, respiratory difficulty with frequent infections, as well as contractures. Brain imaging shows cerebellar and brainstem atrophy, hypoplasia or agenesis of the corpus callosum, and white matter abnormalities including periventricular leukomalacia. ",
"keywords": "KW-0900:Congenital disorder of glycosylation.; "
},
{
"identifier": "Intellectual developmental disorder with hypertelorism and distinctive facies.",
"acronym": "IDDHDF.",
"accession": "DI-05352",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder characterized by developmental delay and intellectual disability, language defects, and distinctive facial dysmorphism including high hairline, hypertelorism, thin eyebrows, dysmorphic ears, broad nasal bridge and tip, and narrow jaw. ",
"keywords": "KW-0991:Intellectual disability.; "
}
]
}