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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1460&ordering=identifier",
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"results": [
{
"identifier": "Contractural arachnodactyly, congenital.",
"acronym": "CCA.",
"accession": "DI-01397",
"synonyms": "Arthrogryposis, distal, type 9.; Beals syndrome.; CCA.; Congenital contractural arachnodactyly.; DA9.; ",
"cross_references": "MeSH; D001176.",
"definition": "An autosomal dominant connective tissue disorder characterized by contractures, arachnodactyly, scoliosis, and crumpled ears. ",
"keywords": null
},
{
"identifier": "Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A.",
"acronym": "CPSFS1A.",
"accession": "DI-05625",
"synonyms": "Arthrogryposis, distal, type 8.; DA8.; Multiple pterygium syndrome, autosomal dominant.; Pterygium syndrome, multiple, autosomal dominant.; ",
"cross_references": "MeSH; D001176.",
"definition": "An autosomal dominant disease characterized by contractures of proximal and distal joints, pterygia involving the neck, axillae, elbows, and/or knees, as well as variable vertebral, carpal, and tarsal fusions and short stature. Progression of vertebral fusions has been observed, and inter- and intrafamilial variability has been reported. ",
"keywords": null
},
{
"identifier": "Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B.",
"acronym": "CPSFS1B.",
"accession": "DI-05594",
"synonyms": null,
"cross_references": "MeSH; D001176.",
"definition": "An autosomal recessive disease characterized by contractures affecting proximal and distal joints, vertebral fusions and scoliosis, carpal and tarsal fusions as well as webbing of the skin (pterygium) involving the neck, elbows, fingers, and/or knees. Other features include facial dysmorphism, short neck, and absent finger flexion creases. Inter- and intrafamilial variability has been observed. ",
"keywords": null
},
{
"identifier": "Convulsions, familial infantile, with paroxysmal choreoathetosis.",
"acronym": "ICCA.",
"accession": "DI-03372",
"synonyms": "Familial infantile convulsions and paroxysmal choreoathetosis.; ICCA syndrome paroxysmal kinesigenic dyskinesia with infantile convulsions.; PKD/IC.; ",
"cross_references": "MeSH; D020936.",
"definition": "A syndrome characterized by clinical features of benign familial infantile seizures and episodic kinesigenic dyskinesia. Benign familial infantile seizures is a disorder characterized by afebrile seizures occurring during the first year of life, without neurologic sequelae. Paroxysmal choreoathetosis is a disorder of involuntary movements characterized by attacks that occur spontaneously or are induced by a variety of stimuli. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Corneal dystrophy and perceptive deafness.",
"acronym": "CDPD.",
"accession": "DI-01426",
"synonyms": "CDPD1.; Corneal dystrophy and sensorineural deafness.; Corneal endothelial dystrophy and perceptive deafness.; Harboyan syndrome.; ",
"cross_references": "MeSH; D003317.",
"definition": "An ocular disease characterized by the association of corneal clouding with progressive perceptive hearing loss. ",
"keywords": "KW-0209:Deafness.; KW-1212:Corneal dystrophy.; "
},
{
"identifier": "Corneal dystrophy, Avellino type.",
"acronym": "CDA.",
"accession": "DI-01264",
"synonyms": "ACD.; Avellino corneal dystrophy.; CGD2.; Combined granular-lattice corneal dystrophy.; Granular corneal dystrophy type II.; ",
"cross_references": "MeSH; D028226.",
"definition": "A corneal disease resulting in reduced visual acuity and characterized by gray, crumb-like granular deposits in the anterior third of the stroma in each corneal button. Fusiform amyloid deposits, histochemically and morphologically identical to those of lattice corneal dystrophy, are found in the deeper stroma. Additional features include recurrent corneal erosions, and glare and decreased night vision. ",
"keywords": "KW-1008:Amyloidosis.; KW-1212:Corneal dystrophy.; "
},
{
"identifier": "Corneal dystrophy, congenital stromal.",
"acronym": "CSCD.",
"accession": "DI-01418",
"synonyms": null,
"cross_references": "MeSH; D003317.",
"definition": "A corneal dystrophy characterized by congenital corneal opacification consisting of a large number of flakes and spots throughout all layers of the stroma. It results in progressive, painless visual loss. Corneal erosions and photophobia are absent. ",
"keywords": "KW-1212:Corneal dystrophy.; "
},
{
"identifier": "Corneal dystrophy, epithelial basement membrane.",
"acronym": "EBMD.",
"accession": "DI-01535",
"synonyms": "Anterior basement membrane corneal dystrophy.; Cogan corneal dystrophy.; Map-dot-fingerprint type corneal dystrophy.; Microcystic corneal dystrophy.; ",
"cross_references": "MeSH; D003317.",
"definition": "A bilateral anterior corneal dystrophy characterized by grayish epithelial fingerprint lines, geographic map-like lines, and dots (or microcysts) on slit-lamp examination. Pathologic studies show abnormal, redundant basement membrane and intraepithelial lacunae filled with cellular debris. ",
"keywords": "KW-1212:Corneal dystrophy.; "
},
{
"identifier": "Corneal dystrophy, fleck.",
"acronym": "CFD.",
"accession": "DI-01431",
"synonyms": "Corneal dystrophy Francois-Neetens speckled or flecked.; FCD.; Fleck corneal dystrophy.; ",
"cross_references": "MeSH; D003317.",
"definition": "A form of stromal corneal dystrophy characterized by numerous small white flecks scattered in all levels of the stroma, with configurations varying from semicircular to wreath-like, curvilinear, or punctate. Although CFD may occasionally cause mild photophobia, patients are typically asymptomatic and have normal vision. ",
"keywords": "KW-1212:Corneal dystrophy.; "
},
{
"identifier": "Corneal dystrophy, Fuchs endothelial, 1.",
"acronym": "FECD1.",
"accession": "DI-01636",
"synonyms": "Corneal dystrophy Fuchs endothelial early-onset.; Fuchs dystrophy.; ",
"cross_references": "MeSH; D005642.",
"definition": "A corneal disease caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition. ",
"keywords": "KW-1212:Corneal dystrophy.; "
},
{
"identifier": "Corneal dystrophy, Fuchs endothelial, 3.",
"acronym": "FECD3.",
"accession": "DI-04548",
"synonyms": "Fuchs endothelial corneal dystrophy, late-onset.; ",
"cross_references": "MeSH; D005642.",
"definition": "A late-onset form of Fuchs endothelial corneal dystrophy, a disease caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition. ",
"keywords": "KW-1212:Corneal dystrophy.; "
},
{
"identifier": "Corneal dystrophy, Fuchs endothelial, 4.",
"acronym": "FECD4.",
"accession": "DI-02765",
"synonyms": "Corneal dystrophy Fuchs endothelial late-onset.; Fuchs dystrophy late-onset.; ",
"cross_references": "MeSH; D005642.",
"definition": "A corneal disease caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition. ",
"keywords": "KW-1212:Corneal dystrophy.; "
},
{
"identifier": "Corneal dystrophy, Fuchs endothelial, 6.",
"acronym": "FECD6.",
"accession": "DI-02766",
"synonyms": "Corneal dystrophy Fuchs endothelial late-onset.; Fuchs dystrophy late-onset.; ",
"cross_references": "MeSH; D005642.",
"definition": "A corneal disease caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition. ",
"keywords": "KW-1212:Corneal dystrophy.; "
},
{
"identifier": "Corneal dystrophy, Fuchs endothelial, 8.",
"acronym": "FECD8.",
"accession": "DI-03947",
"synonyms": null,
"cross_references": "MeSH; D005642.",
"definition": "A corneal disease caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition. ",
"keywords": "KW-1212:Corneal dystrophy.; "
},
{
"identifier": "Corneal dystrophy, gelatinous drop-like.",
"acronym": "GDLD.",
"accession": "DI-01651",
"synonyms": "Amyloid corneal dystrophy Japanese type.; CDGDL.; Corneal amyloidosis.; Lattice corneal dystrophy type III.; ",
"cross_references": "MeSH; D028226.",
"definition": "A form of lattice corneal dystrophy, a class of inherited stromal amyloidoses characterized by pathognomonic branching lattice figures in the cornea. GDLD is an autosomal recessive disorder characterized by severe corneal amyloidosis leading to blindness. Clinical manifestations, which appear in the first decade of life, include blurred vision, photophobia, and foreign-body sensation. By the third decade, raised, yellowish-gray, gelatinous masses severely impair visual acuity. ",
"keywords": "KW-1008:Amyloidosis.; KW-1212:Corneal dystrophy.; "
},
{
"identifier": "Corneal dystrophy, Groenouw type 1.",
"acronym": "CDGG1.",
"accession": "DI-01427",
"synonyms": "Corneal dystrophy Groenouw type I.; GCD1.; Granular corneal dystrophy type I.; MeSH; D003317.; Punctate or nodular corneal dystrophy.; ",
"cross_references": "MedGen; C1641846.",
"definition": "A rare form of stromal corneal dystrophy characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment. ",
"keywords": "KW-1212:Corneal dystrophy.; "
},
{
"identifier": "Corneal dystrophy, lattice type 1.",
"acronym": "CDL1.",
"accession": "DI-01428",
"synonyms": "Corneal dystrophy lattice type I.; Lattice corneal dystrophy type I.; LCD.; LCD1.; ",
"cross_references": "MeSH; D028226.",
"definition": "A form of lattice corneal dystrophy, a class of inherited stromal amyloidoses characterized by pathognomonic branching lattice figures in the cornea. CDL1 is characterized by progressive visual impairment, and the presence of delicate, double-contoured, interdigitating, elongated deposits that form a reticular pattern in the corneal stroma. Systemic amyloidosis is absent. Recurrent corneal ulceration sometimes occurs. ",
"keywords": "KW-1008:Amyloidosis.; KW-1212:Corneal dystrophy.; "
},
{
"identifier": "Corneal dystrophy, lattice type 3A.",
"acronym": "CDL3A.",
"accession": "DI-01882",
"synonyms": "Lattice corneal dystrophy type IIIA.; ",
"cross_references": "MeSH; D028226.",
"definition": "A form of lattice corneal dystrophy, a class of inherited stromal amyloidoses characterized by pathognomonic branching lattice figures in the cornea. CDL3A is characterized by decreased visual acuity, and the presence of thick, ropy branching lattice lines and accumulations of amyloid deposits in the corneal stroma. Systemic amyloidosis is absent. CDL3A clinically resembles to lattice corneal dystrophy type 3, but differs in that its age of onset is 70 to 90 years. It has an autosomal dominant inheritance pattern. ",
"keywords": "KW-1008:Amyloidosis.; KW-1212:Corneal dystrophy.; "
},
{
"identifier": "Corneal dystrophy, Lisch epithelial.",
"acronym": "LECD.",
"accession": "DI-06868",
"synonyms": "Band-shaped and whorled microcystic corneal epithelial dystrophy.; Lisch epithelial corneal dystrophy.; ",
"cross_references": "MeSH; D003317.",
"definition": "An autosomal dominant corneal dystrophy characterized by gray, band- shaped and feathery opacities in the cornea, that sometimes appear in whorled patterns. The opaque bands consist of clear, densely crowded, intra-epithelial blisters. Vision may be impaired if the bands involve the central cornea. ",
"keywords": "KW-1212:Corneal dystrophy.; "
},
{
"identifier": "Corneal dystrophy, Meesmann 1.",
"acronym": "MECD1.",
"accession": "DI-01959",
"synonyms": "Corneal dystrophy, Meesmann epithelial.; Juvenile epithelial corneal dystrophy of Meesmann.; MCD.; MECD.; Meesmann corneal dystrophy.; Meesmann epithelial corneal dystrophy.; ",
"cross_references": "MeSH; D053559.",
"definition": "A form of Meesmann corneal dystrophy, a corneal disease characterized by fragility of the anterior corneal epithelium. Histological examination shows a disorganized and thickened epithelium with widespread cytoplasmic vacuolation and numerous small, round, debris- laden intraepithelial cysts. Patients are usually asymptomatic until adulthood when rupture of the corneal microcysts may cause erosions, producing clinical symptoms such as photophobia, contact lens intolerance and intermittent diminution of visual acuity. Rarely, subepithelial scarring causes irregular corneal astigmatism and permanent visual impairment. MECD1 inheritance is autosomal dominant. ",
"keywords": "KW-1212:Corneal dystrophy.; "
}
]
}