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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3320&ordering=-synonyms",
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"results": [
{
"identifier": "Temple-Baraitser syndrome.",
"acronym": "TMBTS.",
"accession": "DI-04297",
"synonyms": "TBS.; ",
"cross_references": "MeSH; D017880.",
"definition": "A developmental disorder characterized by intellectual disability, epilepsy, hypoplasia or aplasia of the thumb and great toe nails, and broadening and/or elongation of the thumbs and halluces, which have a tubular aspect. Some patients show facial dysmorphism. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Ubiquitin-positive frontotemporal dementia.",
"acronym": "UP-FTD.",
"accession": "DI-02402",
"synonyms": "Tau-negative frontotemporal dementia linked to chromosome 17.; ",
"cross_references": "MedGen; C1843792.",
"definition": "Frontotemporal dementia (FTD) is the second most common cause of dementia in people under the age of 65 years. It is an autosomal dominant neurodegenerative disease. ",
"keywords": null
},
{
"identifier": "Myopathy, tubular aggregate, 1.",
"acronym": "TAM1.",
"accession": "DI-03765",
"synonyms": "TAM.; Tubular aggregate myopathy.; ",
"cross_references": "MeSH; D020914.",
"definition": "A rare congenital myopathy characterized by regular arrays of membrane tubules on muscle biopsies without additional histopathological hallmarks. Tubular aggregates in muscle are structures of variable appearance consisting of an outer tubule containing either one or more microtubule-like structures or amorphous material. They may occur in a variety of circumstances, including inherited myopathies, alcohol- and drug-induced myopathies, exercise-induced cramps or muscle weakness. ",
"keywords": null
},
{
"identifier": "Boudin-Mortier syndrome.",
"acronym": "BOMOS.",
"accession": "DI-06231",
"synonyms": "Tall stature and long digits with extra epiphyses.; ",
"cross_references": "MeSH; D017880.",
"definition": "An autosomal recessive disorder characterized by tall stature, long digits, and extra epiphyses in the hands and feet. In addition, some patients show joint hypermobility and dilation of the aortic root. ",
"keywords": null
},
{
"identifier": "Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly.",
"acronym": "CCF.",
"accession": "DI-01396",
"synonyms": "Talipes equinovarus.; TEV.; ",
"cross_references": "MeSH; D003025.",
"definition": "A congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities. Clubfoot may occur in isolation or as part of a syndrome. Some patients present tibial hemimelia, bilateral patellar hypoplasia, and preaxial mirror-image polydactyly. ",
"keywords": null
},
{
"identifier": "Intellectual developmental disorder, autosomal dominant 73.",
"acronym": "MRD73.",
"accession": "DI-06716",
"synonyms": "T4ND.; TAF4-related NDD.; TAF4-related neurodevelopmental disorder.; ",
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by intellectual disability ranging from mild to severe, developmental delay, speech delay, behavioral abnormalities, and non-specific dysmorphic facial features. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Autoimmune disease, multisystem, with facial dysmorphism.",
"acronym": "ADMFD.",
"accession": "DI-02639",
"synonyms": "Syndromic multisystem autoimmune disease.; ",
"cross_references": "MeSH; D001327.",
"definition": "A disorder characterized by organomegaly, failure to thrive, developmental delay, dysmorphic features and autoimmune inflammatory cell infiltration of the lungs, liver and gut. ",
"keywords": null
},
{
"identifier": "Syndactyly 5.",
"acronym": "SDTY5.",
"accession": "DI-02354",
"synonyms": "Syndactyly type V.; Syndactyly with metacarpal and metatarsal fusion.; ",
"cross_references": "MeSH; D013576.",
"definition": "A form of syndactyly, a congenital anomaly of the hand or foot marked by persistence of the webbing between adjacent digits that are more or less completely attached. The characteristic finding in SDTY5 is the presence of an associated metacarpal and metatarsal fusion. The metacarpals and metatarsals most commonly fused are the 4th and 5th or the 3rd and 4th. Soft tissue syndactyly usually affects the 3rd and 4th fingers and the 2nd and 3rd toes. ",
"keywords": null
},
{
"identifier": "Schwannomatosis 2.",
"acronym": "SWN2.",
"accession": "DI-04051",
"synonyms": "SWNTS2.; ",
"cross_references": "MeSH; D009442.",
"definition": "A form of schwannomatosis, a tumor predisposition syndrome characterized by the development of multiple benign nerve sheath tumors called schwannomas on cranial, spinal, and peripheral nerves, without involvement of the vestibular nerve. SWN2 affected individuals have multiple schwannomas in various areas of the body. SWN2 transmission pattern is consistent with autosomal dominant inheritance and incomplete penetrance. ",
"keywords": null
},
{
"identifier": "Wilms tumor 6.",
"acronym": "WT6.",
"accession": "DI-04647",
"synonyms": "Susceptibility to Wilms tumor 6.; Wilms tumor, susceptibility to.; Wilms tumor 6, susceptibility to.; ",
"cross_references": "MeSH; D009396.",
"definition": "A pediatric malignancy of kidney, and the most common childhood abdominal malignancy. It is caused by the uncontrolled multiplication of renal stem, stromal, and epithelial cells. ",
"keywords": null
},
{
"identifier": "Juvenile myoclonic epilepsy 8.",
"acronym": "EJM8.",
"accession": "DI-02592",
"synonyms": "Susceptibility to juvenile myoclonic epilepsy 8.; ",
"cross_references": "MeSH; D020190.",
"definition": "A subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Juvenile myoclonic epilepsy 7.",
"acronym": "EJM7.",
"accession": "DI-02486",
"synonyms": "Susceptibility to juvenile myoclonic epilepsy 7.; ",
"cross_references": "MeSH; D020190.",
"definition": "A subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Juvenile myoclonic epilepsy 6.",
"acronym": "EJM6.",
"accession": "DI-00614",
"synonyms": "Susceptibility to juvenile myoclonic epilepsy 6.; ",
"cross_references": "MeSH; D020190.",
"definition": "A subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Juvenile myoclonic epilepsy 5.",
"acronym": "EJM5.",
"accession": "DI-03086",
"synonyms": "Susceptibility to juvenile myoclonic epilepsy 5.; ",
"cross_references": "MeSH; D020190.",
"definition": "A subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Epilepsy, idiopathic generalized 9.",
"acronym": "EIG9.",
"accession": "DI-00593",
"synonyms": "Susceptibility to idiopathic generalized epilepsy 9.; ",
"cross_references": "MeSH; D004829.",
"definition": "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. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Epilepsy, idiopathic generalized 8.",
"acronym": "EIG8.",
"accession": "DI-02484",
"synonyms": "Susceptibility to idiopathic generalized epilepsy 8.; ",
"cross_references": "MeSH; D004829.",
"definition": "A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Seizure types are variable, but include myoclonic seizures, absence seizures, febrile seizures, complex partial seizures, and generalized tonic-clonic seizures. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Epilepsy, idiopathic generalized 6.",
"acronym": "EIG6.",
"accession": "DI-00594",
"synonyms": "Susceptibility to idiopathic generalized epilepsy 6.; ",
"cross_references": "MeSH; D004829.",
"definition": "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. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Epilepsy, idiopathic generalized 12.",
"acronym": "EIG12.",
"accession": "DI-03549",
"synonyms": "Susceptibility to idiopathic generalized epilepsy 12.; ",
"cross_references": "MeSH; D004829.",
"definition": "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. In some EIG12 patients seizures may remit with age. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Epilepsy, idiopathic generalized 11.",
"acronym": "EIG11.",
"accession": "DI-00469",
"synonyms": "Susceptibility to idiopathic generalized epilepsy 11.; ",
"cross_references": "MeSH; D004829.",
"definition": "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. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Colorectal cancer 10.",
"acronym": "CRCS10.",
"accession": "DI-03661",
"synonyms": "Susceptibility to colorectal cancer on chromosome 19q.; ",
"cross_references": "MeSH; D015179.",
"definition": "A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. ",
"keywords": null
}
]
}