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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3420&ordering=synonyms",
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"results": [
{
"identifier": "Colorectal cancer 12.",
"acronym": "CRCS12.",
"accession": "DI-03648",
"synonyms": "Susceptibility to colorectal cancer on chromosome 12q24.; ",
"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. CRCS12 is characterized by a high-penetrance predisposition to the development of colorectal adenomas and carcinomas, with a variable tendency to develop multiple and large tumors. Onset is usually before age 40 years. The histologic features of the tumors are unremarkable. ",
"keywords": null
},
{
"identifier": "Colorectal cancer 4.",
"acronym": "CRCS4.",
"accession": "DI-03479",
"synonyms": "Susceptibility to colorectal cancer on chromosome 15.; ",
"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
},
{
"identifier": "Colorectal cancer 3.",
"acronym": "CRCS3.",
"accession": "DI-02891",
"synonyms": "Susceptibility to colorectal cancer on chromosome 18.; ",
"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
},
{
"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
},
{
"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": "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 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 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 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": "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": "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 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 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": "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": "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": "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": "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": "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": "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": "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
}
]
}