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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3920&ordering=synonyms",
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"results": [
{
"identifier": "Keratoderma, palmoplantar, Nagashima type.",
"acronym": "PPKN.",
"accession": "DI-04005",
"synonyms": null,
"cross_references": "MeSH; D007645.",
"definition": "An autosomal recessive, non-syndromic, diffuse palmoplantar keratosis characterized by well-demarcated diffuse erythematous hyperkeratosis expanding onto the dorsal surfaces of the palms and feet and the Achilles tendon area. Hyperkeratosis is mild and non-progressive. ",
"keywords": "KW-1007:Palmoplantar keratoderma.; "
},
{
"identifier": "Keratoderma, palmoplantar, Bothnian type.",
"acronym": "PPKB.",
"accession": "DI-03900",
"synonyms": null,
"cross_references": "MeSH; D053546.",
"definition": "A dermatological disorder characterized by diffuse non-epidermolytic hyperkeratosis of the skin of palms and soles. PPKB is frequently complicated by fungal infections. ",
"keywords": "KW-1007:Palmoplantar keratoderma.; "
},
{
"identifier": "Keratoconus 9.",
"acronym": "KTCN9.",
"accession": "DI-05225",
"synonyms": null,
"cross_references": "MeSH; D007640.",
"definition": "An autosomal dominant form of keratoconus, a common degenerative corneal disease characterized by progressive, non-inflammatory thinning of the corneal stroma, corneal ectasia, and cone-shaped corneal protrusion that results in reduced vision. ",
"keywords": null
},
{
"identifier": "Keratoconus 1.",
"acronym": "KTCN1.",
"accession": "DI-01861",
"synonyms": null,
"cross_references": "MedGen; C1835677.",
"definition": "Frequent corneal dystrophy with an incidence that varies from 50 to 230 per 100'000. The cornea assumes a conical shape as a result of a progressive non-inflammatory thinning of the corneal stroma. Keratoconus is most often an isolated sporadic condition with cases of autosomal dominant and autosomal recessive transmission. ",
"keywords": null
},
{
"identifier": "Dent disease 2.",
"acronym": "DENT2.",
"accession": "DI-00386",
"synonyms": null,
"cross_references": "MeSH; D015499.",
"definition": "An X-linked renal disease belonging to the 'Dent disease complex', a group of disorders characterized by proximal renal tubular defect, hypercalciuria, nephrocalcinosis, and renal insufficiency. The spectrum of phenotypic features is remarkably similar in the various disorders, except for differences in the severity of bone deformities and renal impairment. Characteristic abnormalities include low- molecular-weight proteinuria and other features of Fanconi syndrome, such as glycosuria, aminoaciduria, and phosphaturia, but typically do not include proximal renal tubular acidosis. Progressive renal failure is common, as are nephrocalcinosis and kidney stones. ",
"keywords": null
},
{
"identifier": "Cataract 43.",
"acronym": "CTRCT43.",
"accession": "DI-04361",
"synonyms": null,
"cross_references": "MeSH; D002386.",
"definition": "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. ",
"keywords": "KW-0898:Cataract.; "
},
{
"identifier": "Atrial septal defect 6.",
"acronym": "ASD6.",
"accession": "DI-02498",
"synonyms": null,
"cross_references": "MeSH; D006344.",
"definition": "A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. ",
"keywords": "KW-0976:Atrial septal defect.; "
},
{
"identifier": "Cataract 42.",
"acronym": "CTRCT42.",
"accession": "DI-04171",
"synonyms": null,
"cross_references": "MeSH; D002386.",
"definition": "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. ",
"keywords": "KW-0898:Cataract.; "
},
{
"identifier": "Keppen-Lubinsky syndrome.",
"acronym": "KPLBS.",
"accession": "DI-04375",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "A rare disease characterized by severe developmental delay, intellectual disability, severe generalized lipodystrophy, dysmorphic features including microcephaly, large prominent eyes, narrow nasal bridge, tented upper lip, high palate, open mouth, tightly adherent skin, and aged appearance. ",
"keywords": "KW-0991:Intellectual disability.; KW-1022:Congenital generalized lipodystrophy.; "
},
{
"identifier": "Delpire-McNeill syndrome.",
"acronym": "DELMNES.",
"accession": "DI-05959",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, hypotonia with delayed or absent walking, bilateral sensorineural deafness, poor or absent speech, and mild to severe intellectual disability. Additional variable features may include spasticity or minor involvement of other organ systems, such as hip dislocation or ventricular septal defect. ",
"keywords": "KW-0209:Deafness.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Atrial septal defect 5.",
"acronym": "ASD5.",
"accession": "DI-02497",
"synonyms": null,
"cross_references": "MeSH; D006344.",
"definition": "A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. ",
"keywords": "KW-0976:Atrial septal defect.; "
},
{
"identifier": "KBG syndrome.",
"acronym": "KBGS.",
"accession": "DI-03268",
"synonyms": null,
"cross_references": "MeSH; D014071.",
"definition": "A syndrome characterized by macrodontia of the upper central incisors, distinctive craniofacial findings, short stature, skeletal anomalies, and neurologic involvement that includes global developmental delay, seizures, and intellectual disability. ",
"keywords": "KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Kaya-Barakat-Masson syndrome.",
"acronym": "KABAMAS.",
"accession": "DI-05991",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive neurodevelopmental disorder characterized by impaired intellectual development, absent speech, hypotonia, profound developmental and motor delay with dystonia, poor coordination and spasticity, and visual deficits with brain MRI evidence of ventricle enlargement, myelination alterations and cerebellar atrophy. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Kahrizi syndrome.",
"acronym": "KHRZ.",
"accession": "DI-03364",
"synonyms": null,
"cross_references": "MeSH; D019066.",
"definition": "An autosomal recessive neurodevelopmental disorder characterized by intellectual disability, cataracts, coloboma, kyphosis, and coarse facial features. ",
"keywords": "KW-0898:Cataract.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Kabuki syndrome 2.",
"acronym": "KABUK2.",
"accession": "DI-03337",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "A congenital intellectual disability syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids, a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Delayed sleep phase syndrome.",
"acronym": "DSPS.",
"accession": "DI-03211",
"synonyms": null,
"cross_references": "MeSH; D020178.",
"definition": "A circadian rhythm sleep disorder characterized by sleep-onset insomnia and difficulty in awakening at the desired time. Patients with DSPS have chronic difficulty in adjusting their sleep-onset and wake-up times to occupational, school, and social activities. ",
"keywords": null
},
{
"identifier": "Atrial septal defect 4.",
"acronym": "ASD4.",
"accession": "DI-00152",
"synonyms": null,
"cross_references": "MeSH; D006344.",
"definition": "A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. Patients show other heart abnormalities including defects in septation, chamber growth and valvulogenesis. The disease is not associated with defects in the cardiac conduction system or with non-cardiac abnormalities. ",
"keywords": "KW-0976:Atrial septal defect.; "
},
{
"identifier": "Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome.",
"acronym": "JP/HHT.",
"accession": "DI-01855",
"synonyms": null,
"cross_references": "MedGen; C1832942.",
"definition": "JP/HHT syndrome phenotype consists of the coexistence of juvenile polyposis (JIP) and hereditary hemorrhagic telangiectasia (HHT) [MIM:187300] in a single individual. JIP and HHT are autosomal dominant disorders with distinct and non-overlapping clinical features. The former, an inherited gastrointestinal malignancy predisposition, is caused by mutations in SMAD4 or BMPR1A, and the latter is a vascular malformation disorder caused by mutations in ENG or ACVRL1. All four genes encode proteins involved in the transforming-growth-factor-signaling pathway. Although there are reports of patients and families with phenotypes of both disorders combined, the genetic etiology of this association is unknown. ",
"keywords": null
},
{
"identifier": "Desmosterolosis.",
"acronym": "DESMOS.",
"accession": "DI-01482",
"synonyms": null,
"cross_references": "MedGen; C1865596.",
"definition": "Rare autosomal recessive disorder characterized by multiple congenital anomalies and elevated levels of the cholesterol precursor desmosterol in plasma, tissue, and cultured cells. ",
"keywords": null
},
{
"identifier": "Juvenile myoclonic epilepsy 10.",
"acronym": "EJM10.",
"accession": "DI-05223",
"synonyms": null,
"cross_references": "MeSH; D020190.",
"definition": "A form of juvenile myoclonic epilepsy, a subtype of idiopathic generalized epilepsy generally characterized by afebrile seizures with onset in adolescence (rather than in childhood) and myoclonic jerks, which usually occur after awakening and are triggered by sleep deprivation and fatigue. EJM10 is an autosomal dominant seizure disorder with variable manifestations, even within families. Affected individuals have febrile, myoclonic, tonic-clonic, or absence seizures, although several seizure types can occur in the same individual. Some patients have onset of seizures in the first years of life. ",
"keywords": "KW-0887:Epilepsy.; "
}
]
}