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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2040&ordering=synonyms",
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"results": [
{
"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": "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": "Geleophysic dysplasia 1.",
"acronym": "GPHYSD1.",
"accession": "DI-01652",
"synonyms": "Geleophysic dwarfism.; ",
"cross_references": "MeSH; D004392.",
"definition": "An autosomal recessive disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. 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 progressive cardiac valvular thickening often leading to an early death, toe walking, tracheal stenosis, respiratory insufficiency, and lysosomal-like storage vacuoles in various tissues. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Geleophysic dysplasia 2.",
"acronym": "GPHYSD2.",
"accession": "DI-03224",
"synonyms": "Geleophysic dwarfism.; ",
"cross_references": "MeSH; D004392.",
"definition": "An autosomal dominant disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. 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 progressive cardiac valvular thickening often leading to an early death, toe walking, tracheal stenosis, respiratory insufficiency, and lysosomal-like storage vacuoles in various tissues. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy.",
"acronym": "PNKD3.",
"accession": "DI-00503",
"synonyms": "Generalized epilepsy and paroxysmal dyskinesia.; GEPD.; ",
"cross_references": "MeSH; D004829.",
"definition": "An autosomal dominant neurologic disorder characterized by absence seizures, generalized tonic-clonic seizures, paroxysmal nonkinesigenic dyskinesia and involuntary dystonic or choreiform movements. Onset is usually in childhood. Patients may have seizures only, dyskinesia only, or both. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Hypotrichosis 1.",
"acronym": "HYPT1.",
"accession": "DI-02718",
"synonyms": "Generalized hypothricosis simplex.; HHS.; HTS.; Hypotrichosis simplex.; Hypotrichosis simplex hereditary.; ",
"cross_references": "MeSH; D007039.",
"definition": "A rare form of non-syndromic hereditary hypotrichosis without characteristic hair shaft anomalies. Affected individuals typically show normal hair at birth, but hair loss and thinning of the hair shaft start during early childhood and progress with age. HYPT1 inheritance is autosomal dominant. ",
"keywords": "KW-1063:Hypotrichosis.; "
},
{
"identifier": "Hennekam lymphangiectasia-lymphedema syndrome 1.",
"acronym": "HKLLS1.",
"accession": "DI-02804",
"synonyms": "Generalized lymphatic dysplasia.; Hennekam syndrome.; ",
"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. HKLLS1 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Lymphatic malformation 6.",
"acronym": "LMPHM6.",
"accession": "DI-04669",
"synonyms": "Generalized lymphatic dysplasia of Fotiou.; LMPH3.; Lymphedema, hereditary, 3.; Lymphedema, hereditary, III.; ",
"cross_references": "MeSH; D008209.",
"definition": "A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Patients with lymphedema may suffer from recurrent local infections. LMPHM6 is an autosomal recessive, severe form manifesting as generalized lymphatic dysplasia. It is characterized by uniform, widespread swelling of all segments of the body, with systemic involvement such as intestinal and/or pulmonary lymphangiectasia, pleural effusions, chylothoraces and/or pericardial effusions, and with a high incidence of non- immune hydrops fetalis. ",
"keywords": null
},
{
"identifier": "Rickets vitamin D-dependent 2A.",
"acronym": "VDDR2A.",
"accession": "DI-02398",
"synonyms": "Generalized resistance to 1,25-dihydroxyvitamin D.; HVDRR.; Hypocalcemic vitamin D-resistant rickets.; PDDR IIA.; Pseudovitamin D-deficiency type IIA.; Rickets-alopecia syndrome.; Rickets hereditary vitamin D-resistant.; Type IIA rickets.; Vitamin D-dependent rickets type 2A with or without alopecia.; Vitamin D-resistant rickets with end-organ unresponsiveness to 1,25-dihydroxycholecalciferol.; ",
"cross_references": "MeSH; D012279.",
"definition": "A disorder of vitamin D metabolism resulting in severe rickets, hypocalcemia and secondary hyperparathyroidism. Most patients have total alopecia in addition to rickets. ",
"keywords": null
},
{
"identifier": "Vitiligo.",
"acronym": "VTLG.",
"accession": "DI-02735",
"synonyms": "Generalized vitiligo.; ",
"cross_references": "MeSH; D014820.",
"definition": "A pigmentary disorder of the skin and mucous membranes. It is characterized by circumscribed depigmented macules and patches, commonly on extensor aspects of extremities, on the face or neck and in skin folds. Vitiligo is a progressive disorder in which some or all of the melanocytes in the affected skin are selectively destroyed. It is a multifactorial disorder with a complex etiology probably including autoimmune mechanisms, and is associated with an elevated risk of other autoimmune diseases. ",
"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": "Pre-eclampsia/eclampsia 5.",
"acronym": "PEE5.",
"accession": "DI-03420",
"synonyms": "Gestational proteinuric hypertension.; ",
"cross_references": "MeSH; D011225.",
"definition": "A hypertensive disorder of pregnancy characterized by new hypertension (blood pressure 140/90 or greater) presenting after 20 weeks' gestation with clinically relevant proteinuria. It impacts 2 individuals, the mother and her child, both of whom can be severely affected. Preeclampsia is one of the causes of maternal mortality and morbidity worldwide. ",
"keywords": null
},
{
"identifier": "Pre-eclampsia/eclampsia 4.",
"acronym": "PEE4.",
"accession": "DI-02187",
"synonyms": "Gestational proteinuric hypertension.; ",
"cross_references": "MeSH; D011225.",
"definition": "A hypertensive disorder of pregnancy characterized by new hypertension (blood pressure 140/90 or greater) presenting after 20 weeks' gestation with clinically relevant proteinuria. It impacts 2 individuals, the mother and her child, both of whom can be severely affected. Preeclampsia is one of the causes of maternal mortality and morbidity worldwide. ",
"keywords": null
},
{
"identifier": "Melanocytic nevus syndrome, congenital.",
"acronym": "CMNS.",
"accession": "DI-04099",
"synonyms": "Giant congenital pigmented nevus.; Giant pigmented hairy nevus.; GPHN.; Pigmented moles.; ",
"cross_references": "MeSH; D009508.",
"definition": "A syndrome characterized by congenital pigmentary skin lesions which can occur at any site and can cover most of the body surface. These lesions may or may not be hairy. Congenital melanocytic nevi are associated with neuromelanosis (the presence of melanin-producing cells within the brain parenchyma or leptomeninges). Less commonly they are associated with malignant melanoma in childhood, both in the skin and the central nervous system. CMNS patients also tend to have a characteristic facial appearance, including wide or prominent forehead, periorbital fullness, small short nose with narrow nasal bridge, round face, full cheeks, prominent premaxilla, and everted lower lip. ",
"keywords": null
},
{
"identifier": "Glycerol kinase deficiency.",
"acronym": "GKD.",
"accession": "DI-01663",
"synonyms": "GK1 deficiency.; GK deficiency.; Hyperglycerolemia.; ",
"cross_references": "MeSH; D002239.",
"definition": "A metabolic disorder manifesting as 3 clinically distinct forms: infantile, juvenile, and adult. The infantile form is the most severe and is associated with severe developmental delay and adrenal insufficiency. Patients with the adult form have no symptoms and are often detected fortuitously. GKD results in hyperglycerolemia, a condition characterized by the accumulation of glycerol in the blood and urine. ",
"keywords": null
},
{
"identifier": "Bleeding disorder, platelet-type, 16.",
"acronym": "BDPLT16.",
"accession": "DI-03752",
"synonyms": "Glanzmann thrombasthenia-like with macrothrombocytopenia 1.; ",
"cross_references": "MeSH; D013915.",
"definition": "An autosomal dominant form of congenital macrothrombocytopenia associated with platelet anisocytosis. It is a disorder of platelet production. Affected individuals may have no or only mildly increased bleeding tendency. In vitro studies show mild platelet functional abnormalities. ",
"keywords": null
}
]
}