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=2500",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2460",
"results": [
{
"identifier": "Geleophysic dysplasia 3.",
"acronym": "GPHYSD3.",
"accession": "DI-05159",
"synonyms": null,
"cross_references": "MeSH; D004392.",
"definition": "A form of geleophysic dysplasia, a rare skeletal disease characterized by severe short stature, short hands and feet, and joint limitations. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have characteristic facial features including a 'happy' face with full cheeks, shortened nose, hypertelorism, long and flat philtrum, and thin upper lip. Other distinctive features include skin thickening, progressive cardiac valvular thickening often leading to an early death, toe walking, tracheal stenosis, respiratory insufficiency, and lysosomal-like storage vacuoles in various tissues. GPHYSD3 inheritance is autosomal dominant. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Generalized epilepsy with febrile seizures plus 1.",
"acronym": "GEFSP1.",
"accession": "DI-00505",
"synonyms": "GEFS+ type 1.; ",
"cross_references": "MeSH; D004829.",
"definition": "A rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Generalized epilepsy with febrile seizures plus 10.",
"acronym": "GEFSP10.",
"accession": "DI-05599",
"synonyms": "GEFS+, type 10.; GEFS+10.; Generalized epilepsy with febrile seizures plus, type 10.; ",
"cross_references": "MeSH; D004829.",
"definition": "An autosomal dominant neurologic disorder with incomplete penetrance, characterized by variable types of seizures including absence, tonic- clonic, febrile, focal, and eyelid myoclonia. Some patients have normal neurologic development. Others have mild-to-moderate intellectual disability or autism spectrum disorder. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Generalized epilepsy with febrile seizures plus 12.",
"acronym": "GEFSP12.",
"accession": "DI-06865",
"synonyms": null,
"cross_references": "MeSH; D004829.",
"definition": "An autosomal dominant neurologic disorder with variable expressivity and incomplete penetrance. Affected individuals have variable types of seizures, most often febrile seizures, sometimes combined with non- febrile focal or generalized seizures. Rarely, afebrile tonic-clonic seizures have been observed. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Generalized epilepsy with febrile seizures plus 2.",
"acronym": "GEFSP2.",
"accession": "DI-00506",
"synonyms": "GEFS+2.; GEFS+ type 2.; ",
"cross_references": "MeSH; D004829.",
"definition": "A rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Generalized epilepsy with febrile seizures plus 3.",
"acronym": "GEFSP3.",
"accession": "DI-00507",
"synonyms": "GEFS+3.; GEFS+ type 3.; ",
"cross_references": "MeSH; D004829.",
"definition": "A rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Generalized epilepsy with febrile seizures plus 5.",
"acronym": "GEFSP5.",
"accession": "DI-00508",
"synonyms": "GEFS+5.; GEFS+ type 5.; ",
"cross_references": "MeSH; D004829.",
"definition": "A rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Generalized epilepsy with febrile seizures plus 7.",
"acronym": "GEFSP7.",
"accession": "DI-02931",
"synonyms": "GEFS+7.; GEFS+ type 7.; ",
"cross_references": "MeSH; D004829.",
"definition": "A rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Generalized epilepsy with febrile seizures plus 9.",
"acronym": "GEFSP9.",
"accession": "DI-04300",
"synonyms": "GEFS+9.; GEFS+ type 9.; Generalized epilepsy with febrile seizures plus, type 9.; ",
"cross_references": "MeSH; D004829.",
"definition": "An autosomal dominant neurologic disorder characterized by febrile and/or afebrile seizures manifesting in early childhood. Seizure are variable and include generalized tonic-clonic, atonic, myoclonic, complex partial, and absence types. Most patients have remission of seizures later in childhood with no residual neurologic deficits. Rarely, patients may show mild developmental delay or mild intellectual disabilities. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Genitopatellar syndrome.",
"acronym": "GTPTS.",
"accession": "DI-03437",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "A rare disorder consisting of microcephaly, severe psychomotor retardation, and characteristic coarse facial features, including broad nose and small or retracted chin, associated with congenital flexion contractures of the lower extremities, abnormal or missing patellae, and urogenital anomalies. ",
"keywords": null
},
{
"identifier": "Genitourinary and/or brain malformation syndrome.",
"acronym": "GUBS.",
"accession": "DI-05791",
"synonyms": null,
"cross_references": "MeSH; D014564.",
"definition": "An autosomal dominant syndrome characterized by multiple congenital anomalies including urogenital malformations and brain abnormalities ranging from agenesis of the corpus callosum to anencephaly. ",
"keywords": null
},
{
"identifier": "Geroderma osteodysplasticum.",
"acronym": "GO.",
"accession": "DI-00509",
"synonyms": "Gerodermia osteodysplastica.; Walt Disney dwarfism.; ",
"cross_references": "MeSH; D012873.",
"definition": "A rare autosomal recessive disorder characterized by lax, wrinkled skin, joint laxity and a typical face with a prematurely aged appearance. Skeletal signs include severe osteoporosis leading to frequent fractures, malar and mandibular hypoplasia and a variable degree of growth retardation. ",
"keywords": "KW-0242:Dwarfism.; KW-1285:Osteoporosis.; "
},
{
"identifier": "Gerstmann-Straussler disease.",
"acronym": "GSD.",
"accession": "DI-01656",
"synonyms": "Cerebellar ataxia, progressive dementia, and amyloid deposits in CNS.; Cerebral amyloidosis with spongiform encephalopathy.; Gerstmann-Straussler-Scheinker disease.; GSS.; Prion dementia.; Subacute spongiform encephalopathy Gerstmann-Straussler type.; ",
"cross_references": "MeSH; D016098.",
"definition": "A rare inherited prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain. GSD presents with progressive limb and truncal ataxia, dysarthria, and cognitive decline in the thirties and forties, and the average disease duration is 7 years. ",
"keywords": "KW-1008:Amyloidosis.; "
},
{
"identifier": "Ghosal hematodiaphyseal dysplasia.",
"acronym": "GHDD.",
"accession": "DI-01657",
"synonyms": null,
"cross_references": "MedGen; C1856465.",
"definition": "Rare autosomal recessive disorder characterized by increased bone density with predominant diaphyseal involvement and aregenerative corticosteroid-sensitive anemia. Aregenerative anemia is characterized by bone marrow failure, so that functional marrow cells are regenerated slowly or not at all. ",
"keywords": null
},
{
"identifier": "Giant axonal neuropathy 1, autosomal recessive.",
"acronym": "GAN1.",
"accession": "DI-01658",
"synonyms": "GAN.; ",
"cross_references": "MeSH; D015417.",
"definition": "A severe autosomal recessive sensorimotor neuropathy affecting both the peripheral nerves and the central nervous system. Axonal loss and the presence of giant axonal swellings filled with neurofilaments on nerve biopsies are the hallmarks of this neurodegenerative disorder. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0622:Neuropathy.; "
},
{
"identifier": "Giant axonal neuropathy 2, autosomal dominant.",
"acronym": "GAN2.",
"accession": "DI-04139",
"synonyms": "HMSN2 with neurofilament accumulations and infrequent giant axons.; ",
"cross_references": "MeSH; D015417.",
"definition": "An autosomal dominant peripheral axonal neuropathy characterized by onset of distal sensory impairment with lower extremity muscle weakness and atrophy after the second decade. Clinical features include foot deformities apparent in childhood, and cardiomyopathy in severely affected individuals. Sural nerve biopsy shows giant axonal swelling with neurofilament accumulation. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0622:Neuropathy.; "
},
{
"identifier": "Gilbert syndrome.",
"acronym": "GILBS.",
"accession": "DI-01659",
"synonyms": null,
"cross_references": "MedGen; C0017551.",
"definition": "Occurs as a consequence of reduced bilirubin transferase activity and is often detected in young adults with vague non-specific complaints. ",
"keywords": null
},
{
"identifier": "Gilles de la Tourette syndrome.",
"acronym": "GTS.",
"accession": "DI-01660",
"synonyms": null,
"cross_references": "MedGen; C1392622.",
"definition": "Neurologic disorder manifested particularly by motor and vocal tics and associated with behavioral abnormalities. ",
"keywords": null
},
{
"identifier": "Gillespie syndrome.",
"acronym": "GLSP.",
"accession": "DI-01661",
"synonyms": "Aniridia, cerebellar ataxia and mental deficiency.; ",
"cross_references": "MeSH; D015783.",
"definition": "A rare disease characterized by bilateral iris hypoplasia, congenital hypotonia, non-progressive ataxia, progressive cerebellar atrophy, and intellectual disability. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Gillessen-Kaesbach-Nishimura syndrome.",
"acronym": "GIKANIS.",
"accession": "DI-04737",
"synonyms": "Polycystic kidney disease, autosomal recessive, with microbrachycephaly, hypertelorism, and brachymelia.; ",
"cross_references": "MeSH; D017044.",
"definition": "A rare autosomal recessive syndrome characterized by severe skeletal dysplasia, facial dysmorphic features, polycystic kidney disease and other visceral malformations. It may be lethal in utero or early in life. The skeletal features uniformly comprise a round pelvis, mesomelic shortening of the upper limbs and defective ossification of the cervical spine. ",
"keywords": "KW-0900:Congenital disorder of glycosylation.; "
}
]
}