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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3880&ordering=synonyms",
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"results": [
{
"identifier": "Cataract, multiple types 19.",
"acronym": "CTRCT19.",
"accession": "DI-03783",
"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": "Macular degeneration, age-related, 8.",
"acronym": "ARMD8.",
"accession": "DI-00061",
"synonyms": null,
"cross_references": "MeSH; D008268.",
"definition": "A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. ",
"keywords": "KW-0913:Age-related macular degeneration.; "
},
{
"identifier": "Atrioventricular septal defect 2.",
"acronym": "AVSD2.",
"accession": "DI-01195",
"synonyms": null,
"cross_references": "MeSH; D004694.",
"definition": "A congenital heart malformation characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. The complete form involves underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum; the valve itself is also shared. A less severe form, known as ostium primum atrial septal defect, is characterized by separate atrioventricular valvar orifices despite a common junction. ",
"keywords": null
},
{
"identifier": "Amelogenesis imperfecta 1J.",
"acronym": "AI1J.",
"accession": "DI-04931",
"synonyms": null,
"cross_references": "MeSH; D000567.",
"definition": "A form of amelogenesis imperfecta, a disorder characterized by defective enamel formation. The enamel may be hypoplastic, hypomineralized or both, and affected teeth may be discoloured, sensitive or prone to disintegration. AI1J is an autosomal recessive form characterized by hypoplastic enamel, enamel discolorization ranging from yellow to black, and normal dentin. ",
"keywords": "KW-0986:Amelogenesis imperfecta.; "
},
{
"identifier": "Adiponectin deficiency.",
"acronym": "ADPOD.",
"accession": "DI-00041",
"synonyms": null,
"cross_references": "MeSH; D009765.",
"definition": "An autosomal dominant condition characterized by very low concentrations of plasma adiponectin. Levels of adiponectin are decreased in obesity and may contribute to a chronic state of inflammation that leads to insulin resistance, type 2 diabetes, coronary artery disease, myocardial infarction, non-alcoholic steatohepatitis, and kidney disease. ",
"keywords": "KW-0219:Diabetes mellitus.; KW-0550:Obesity.; "
},
{
"identifier": "Macular dystrophy with central cone involvement.",
"acronym": "CCMD.",
"accession": "DI-04295",
"synonyms": null,
"cross_references": "MeSH; D005128.",
"definition": "An ocular disease characterized by decreased visual acuity, slight pigmentary changes and color vision abnormalities, becoming apparent in the third to sixth decade of life. Fundus anomalies are variable and include bull's eye maculopathy, severe atrophy of central fovea, relatively spared fovea with surrounding atrophic ring, central retinal pigment epithelium and/or choroid changes, pale or atrophic peripapillary area, pale optic disk, relatively spared periphery, and slightly or moderately attenuated vessels. ",
"keywords": null
},
{
"identifier": "46,XY gonadal dysgenesis with minifascicular neuropathy.",
"acronym": "GDMN.",
"accession": "DI-02146",
"synonyms": null,
"cross_references": "MeSH; D006061.",
"definition": "An autosomal recessive disorder characterized by gonadal dysgenesis associated with polyneuropathy. Genital anomalies include the presence of a testis on one side and a streak or an absent gonad at the other, persistence of Muellerian duct structures, and a variable degree of genital ambiguity. ",
"keywords": null
},
{
"identifier": "Klippel-Feil syndrome 3, autosomal dominant.",
"acronym": "KFS3.",
"accession": "DI-02973",
"synonyms": null,
"cross_references": "MeSH; D007714.",
"definition": "A skeletal disorder characterized by congenital fusion of cervical vertebrae. It is due to a failure in the normal segmentation of vertebrae during the early weeks of fetal development. The clinical triad consists of short neck, low posterior hairline, and limited neck movement. ",
"keywords": null
},
{
"identifier": "Chronic atrial and intestinal dysrhythmia.",
"acronym": "CAID.",
"accession": "DI-04314",
"synonyms": null,
"cross_references": "MeSH; D012804.",
"definition": "A disease characterized by dysregulation of the cardiac sinus node resulting in sick sinus syndrome, in association with chronic intestinal pseudo-obstruction, a disorder of gastrointestinal motility in which intestinal obstruction occurs in the absence of a mechanical obstacle. ",
"keywords": null
},
{
"identifier": "Kleefstra syndrome 2.",
"acronym": "KLEFS2.",
"accession": "DI-05142",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "A form of Kleefstra syndrome, an autosomal dominant disease characterized by variable intellectual disability, psychomotor developmental delay, seizures, behavioral abnormalities, and facial dysmorphisms. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "DeSanto-Shinawi syndrome.",
"acronym": "DESSH.",
"accession": "DI-04620",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal dominant syndrome characterized by developmental delay, hypotonia, behavioral problems, eye abnormalities, constipation, feeding difficulties, seizures and sleep problems. Patients exhibit dysmorphic features, including broad/prominent forehead, synophrys and/or bushy eyebrows, depressed nasal bridge and bulbous nasal tip. Additional variable features are posteriorly rotated ears, hirsutism, deep-set eyes, thin upper lip, inverted nipples, hearing loss and branchial cleft anomalies. ",
"keywords": null
},
{
"identifier": "Dermatopathia pigmentosa reticularis.",
"acronym": "DPR.",
"accession": "DI-00388",
"synonyms": null,
"cross_references": "MeSH; D004476.",
"definition": "A rare ectodermal dysplasia characterized by lifelong persistent reticulate hyperpigmentation, non-cicatricial alopecia, and nail dystrophy. Variable features include adermatoglyphia, hypohidrosis or hyperhidrosis, and palmoplantar hyperkeratosis. ",
"keywords": "KW-0038:Ectodermal dysplasia.; "
},
{
"identifier": "Atrial septal defect 9.",
"acronym": "ASD9.",
"accession": "DI-03370",
"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. Some patients manifest tricuspid valve disease, pulmonary valve disease, and pulmonary artery hypertension. ",
"keywords": "KW-0976:Atrial septal defect.; "
},
{
"identifier": "Macular dystrophy, retinal, 5.",
"acronym": "MCDR5.",
"accession": "DI-06652",
"synonyms": null,
"cross_references": "MeSH; D008268.",
"definition": "An autosomal recessive, late-onset form of of macular dystrophy, a group of inherited retinal disorders that cause significant visual loss, most often as a result of progressive macular atrophy. MCDR5 symptoms include reduced visual acuity, difficulty reading, photopsias in the central visual field, poor contrast vision, and metamorphopsia. Night blindness is uncommon. ",
"keywords": null
},
{
"identifier": "Kilquist syndrome.",
"acronym": "KILQS.",
"accession": "DI-05956",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive, multisystem disorder characterized by severe global developmental delay, sensorineural hearing loss, poor overall growth, mild facial dysmorphism, gastrointestinal anomalies such as gastroesophageal reflux or midgut malrotation, and a striking lack of tear fluid, saliva, and sweat. ",
"keywords": "KW-0209:Deafness.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Keutel syndrome.",
"acronym": "KTLS.",
"accession": "DI-01864",
"synonyms": null,
"cross_references": "MedGen; C1855607.",
"definition": "An autosomal recessive disorder characterized by abnormal cartilage calcification, peripheral pulmonary stenosis neural hearing loss and midfacial hypoplasia. ",
"keywords": null
},
{
"identifier": "Denys-Drash syndrome.",
"acronym": "DDS.",
"accession": "DI-01480",
"synonyms": null,
"cross_references": "MedGen; C0950121.",
"definition": "Typical nephropathy characterized by diffuse mesangial sclerosis, genital abnormalities, and/or Wilms tumor. There is phenotypic overlap with WAGR syndrome and Frasier syndrome. Inheritance is autosomal dominant, but most cases are sporadic. ",
"keywords": null
},
{
"identifier": "Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome.",
"acronym": "MDPL.",
"accession": "DI-03863",
"synonyms": null,
"cross_references": "MeSH; D008661.",
"definition": "An autosomal dominant systemic disorder characterized by prominent loss of subcutaneous fat, metabolic abnormalities including insulin resistance and diabetes mellitus, sclerodermatous skin, and a facial appearance characterized by mandibular hypoplasia. Sensorineural deafness occurs late in the first or second decades of life. ",
"keywords": null
},
{
"identifier": "Keratosis, seborrheic.",
"acronym": "KERSEB.",
"accession": "DI-00625",
"synonyms": null,
"cross_references": "MeSH; D017492.",
"definition": "A common benign skin tumor. Seborrheic keratoses usually begin with the appearance of one or more sharply defined, light brown, flat macules. The lesions may be sparse or numerous. As they initially grow, they develop a velvety to finely verrucous surface, followed by an uneven warty surface with multiple plugged follicles and a dull or lackluster appearance. ",
"keywords": null
},
{
"identifier": "Keratosis pilaris atrophicans.",
"acronym": "KPA.",
"accession": "DI-04889",
"synonyms": null,
"cross_references": "MeSH; D007642.",
"definition": "A group of rare genodermatoses characterized by keratotic follicular papules, variable degrees of inflammation, and secondary atrophic scarring. Most cases are associated with an atopic diathesis and keratosis pilaris on the extensor extremities. KPA is comprised of three distinct clinical subtypes: keratosis pilaris atrophicans faciei, atrophoderma vermiculatum, and keratosis follicularis spinulosa decalvans. Affected individuals may present with features overlapping the 3 subtypes. ",
"keywords": null
}
]
}