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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1480",
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"results": [
{
"identifier": "Corneal dystrophy, Meesmann 2.",
"acronym": "MECD2.",
"accession": "DI-05754",
"synonyms": null,
"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. MECD2 inheritance is autosomal dominant. ",
"keywords": "KW-1212:Corneal dystrophy.; "
},
{
"identifier": "Corneal dystrophy, posterior polymorphous, 1.",
"acronym": "PPCD1.",
"accession": "DI-02640",
"synonyms": "CHED1.; Corneal endothelial dystrophy 1, autosomal dominant.; Hereditary polymorphous posterior corneal dystrophy.; Maumenee corneal dystrophy.; PPCD.; ",
"cross_references": "MeSH; D003317.",
"definition": "A rare corneal disorder characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, an altered corneal endothelial cell structure, and an unusual proliferation of endothelial cells. Symptoms can range from very aggressive to asymptomatic and non-progressive, even within the same family. ",
"keywords": "KW-1212:Corneal dystrophy.; "
},
{
"identifier": "Corneal dystrophy, posterior polymorphous, 2.",
"acronym": "PPCD2.",
"accession": "DI-02185",
"synonyms": null,
"cross_references": "MeSH; D003317.",
"definition": "A rare mild subtype of posterior corneal dystrophy characterized by alterations of Descemet membrane presenting as vesicles, opacities or band-like lesions on slit-lamp examination and specular microscopy. Affected patient typically are asymptomatic. ",
"keywords": "KW-1212:Corneal dystrophy.; "
},
{
"identifier": "Corneal dystrophy, posterior polymorphous, 3.",
"acronym": "PPCD3.",
"accession": "DI-02186",
"synonyms": null,
"cross_references": "MeSH; D003317.",
"definition": "A subtype of posterior corneal dystrophy, a disease characterized by alterations of Descemet membrane presenting as vesicles, opacities or band-like lesions on slit-lamp examination and specular microscopy. Affected patient typically are asymptomatic. ",
"keywords": "KW-1212:Corneal dystrophy.; "
},
{
"identifier": "Corneal dystrophy, posterior polymorphous, 4.",
"acronym": "PPCD4.",
"accession": "DI-05267",
"synonyms": null,
"cross_references": "MeSH; D003317.",
"definition": "A subtype of posterior corneal dystrophy, a disease characterized by alterations of Descemet membrane presenting as vesicles, opacities or band-like lesions on slit-lamp examination and specular microscopy. In severe cases, corneal endothelial failure may occur and corneal transplantation is required to restore vision. Secondary complications are common and include corneal edema, glaucoma, iris adherence to the cornea, and corectopia. PPCD4 transmission pattern is consistent with autosomal dominant inheritance. ",
"keywords": "KW-1212:Corneal dystrophy.; "
},
{
"identifier": "Corneal dystrophy, punctiform and polychromatic pre-Descemet.",
"acronym": "PPPCD.",
"accession": "DI-06421",
"synonyms": null,
"cross_references": "MeSH; D003317.",
"definition": "An autosomal dominant corneal dystrophy characterized by the presence of punctiform, multicolored opacities in the posterior stroma, immediately anterior to Descemet membrane. Affected individuals are typically asymptomatic. ",
"keywords": "KW-1212:Corneal dystrophy.; "
},
{
"identifier": "Corneal dystrophy, Reis-Bucklers type.",
"acronym": "CDRB.",
"accession": "DI-02252",
"synonyms": "CDB1.; Corneal dystrophy of Bowman layer type I.; Geographic corneal dystrophy.; Granular corneal dystrophy type III.; RBCD.; Reis-Bucklers corneal dystrophy.; ",
"cross_references": "MeSH; D003317.",
"definition": "A bilateral disorder of the cornea characterized by intermittent attacks of ocular irritation, recurrent painful corneal erosions starting in childhood, corneal opacities in a geographic pattern at the level of the Bowman layer, and a progressive decrease of visual acuity. The lesions are primarily in Bowman membrane with secondary involvement of the epithelium and superficial part of the stroma. Bowman membrane is almost completely replaced by pathologic materials including disoriented collagen fibrils. ",
"keywords": "KW-1212:Corneal dystrophy.; "
},
{
"identifier": "Corneal dystrophy, Schnyder type.",
"acronym": "SCCD.",
"accession": "DI-01457",
"synonyms": "SCD.; Schnyder corneal dystrophy.; Schnyder crystalline corneal dystrophy.; ",
"cross_references": "MeSH; D003317.",
"definition": "A form of stromal corneal dystrophy characterized by corneal clouding, resulting from abnormal deposition of cholesterol and phospholipids, and decreased visual acuity. Typically, ring-shaped yellow-white opacities composed of innumerable fine needle-shaped crystals form in Bowman layer and the adjacent anterior stroma of the central cornea. The crystals usually remain in the anterior third of the cornea. The corneal epithelium and endothelium as well as Descemet membrane are spared. ",
"keywords": "KW-1212:Corneal dystrophy.; "
},
{
"identifier": "Corneal dystrophy, Thiel-Behnke type.",
"acronym": "CDTB.",
"accession": "DI-01429",
"synonyms": "CDB2.; Corneal dystrophy of Bowman layer type II.; Honeycomb-shaped corneal dystrophy.; TBCD.; Thiel-Behnke corneal dystrophy.; ",
"cross_references": "MeSH; D003317.",
"definition": "A bilateral disorder of the cornea characterized by progressive honeycomb-like, subepithelial corneal opacities with recurrent erosions. ",
"keywords": "KW-1212:Corneal dystrophy.; "
},
{
"identifier": "Corneal endothelial dystrophy.",
"acronym": "CHED.",
"accession": "DI-01430",
"synonyms": "CHED2.; Congenital hereditary endothelial corneal dystrophy.; Congenital hereditary endothelial dystrophy of cornea.; Corneal endothelial dystrophy 2, autosomal recessive.; Maumenee corneal dystrophy.; ",
"cross_references": "MeSH; D003317.",
"definition": "A congenital corneal dystrophy characterized by thickening and opacification of the cornea, altered morphology of the endothelium, and secretion of an abnormal collagenous layer at the Descemet membrane. ",
"keywords": "KW-1212:Corneal dystrophy.; "
},
{
"identifier": "Cornea plana 2, autosomal recessive.",
"acronym": "CNA2.",
"accession": "DI-02364",
"synonyms": "Cornea plana congenita, recessive.; ",
"cross_references": "MeSH; D003316.",
"definition": "A severe form of cornea plana, a rare ocular disorder characterized by flattened corneal curvature leading to a decrease in refraction, reduced visual activity, hyperopia, hazy corneal limbus, opacities in the corneal parenchyma, and marked arcus senilis often detected at an early age. CNA2 patients manifest extreme hyperopia and additional ocular anomalies such as malformations of the iris, a slit-like pupil, and adhesions between iris and cornea. ",
"keywords": null
},
{
"identifier": "Cornelia de Lange syndrome 1.",
"acronym": "CDLS1.",
"accession": "DI-00379",
"synonyms": "Amstelodamensis typus degenerativus.; ",
"cross_references": "MeSH; D003635.",
"definition": "A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. Characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Cornelia de Lange syndrome 2.",
"acronym": "CDLS2.",
"accession": "DI-00380",
"synonyms": "Cornelia de Lange syndrome X-linked.; ",
"cross_references": "MeSH; D003635.",
"definition": "A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. Characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Cornelia de Lange syndrome 3 with or without midline brain defects.",
"acronym": "CDLS3.",
"accession": "DI-01432",
"synonyms": null,
"cross_references": "MeSH; D003635.",
"definition": "A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. Characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies. Cornelia de Lange syndrome type 3 is a mild form with absence of major structural anomalies. The phenotype in some instances approaches that of apparently non-syndromic intellectual disability. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Cornelia de Lange syndrome 4 with or without midline brain defects.",
"acronym": "CDLS4.",
"accession": "DI-03491",
"synonyms": null,
"cross_references": "MeSH; D003635.",
"definition": "A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. It is characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Cornelia de Lange syndrome 5.",
"acronym": "CDLS5.",
"accession": "DI-03541",
"synonyms": null,
"cross_references": "MeSH; D003635.",
"definition": "A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. It is characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Cornelia de Lange syndrome 6.",
"acronym": "CDLS6.",
"accession": "DI-06806",
"synonyms": null,
"cross_references": "MeSH; D003635.",
"definition": "A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. It is characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies. CDLS6 inheritance is autosomal dominant. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Coronary artery disease.",
"acronym": "CAD.",
"accession": "DI-04956",
"synonyms": "Coronary artery disease, severe.; ",
"cross_references": "MeSH; D003324.",
"definition": "A common heart disease characterized by reduced or absent blood flow in one or more of the arteries that encircle and supply the heart. Its most important complication is acute myocardial infarction. ",
"keywords": null
},
{
"identifier": "Coronary artery disease, autosomal dominant, 1.",
"acronym": "ADCAD1.",
"accession": "DI-01202",
"synonyms": "Coronary artery disease with myocardial infarction.; ",
"cross_references": "MeSH; D003324.",
"definition": "A common heart disease characterized by reduced or absent blood flow in one or more of the arteries that encircle and supply the heart. Its most important complication is acute myocardial infarction. ",
"keywords": null
},
{
"identifier": "Coronary artery disease, autosomal dominant, 2.",
"acronym": "ADCAD2.",
"accession": "DI-01203",
"synonyms": null,
"cross_references": "MeSH; D003324.",
"definition": "A common heart disease characterized by reduced or absent blood flow in one or more of the arteries that encircle and supply the heart. Its most important complication is acute myocardial infarction. ",
"keywords": null
}
]
}