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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4120",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4080",
"results": [
{
"identifier": "Microphthalmia/Coloboma 8.",
"acronym": "MCOPCB8.",
"accession": "DI-03952",
"synonyms": "Microphthalmia, isolated, with coloboma, 8.; ",
"cross_references": "MeSH; D008850.",
"definition": "A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). ",
"keywords": "KW-1013:Microphthalmia.; "
},
{
"identifier": "Microphthalmia/Coloboma 9.",
"acronym": "MCOPCB9.",
"accession": "DI-03704",
"synonyms": "Microphthalmia, isolated, with coloboma, 9.; ",
"cross_references": "MeSH; D008850.",
"definition": "A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). ",
"keywords": "KW-1013:Microphthalmia.; "
},
{
"identifier": "Microphthalmia/coloboma and skeletal dysplasia syndrome.",
"acronym": "MCSKS.",
"accession": "DI-04146",
"synonyms": "MCOPS14.; Microphthalmia, syndromic, 14.; Microphthalmia and/or coloboma, with or without rhizomelic skeletal dysplasia.; ",
"cross_references": "MeSH; D008850.",
"definition": "A disease characterized by bilateral colobomatous microphthalmia or bilateral anophthalmia, associated with skeletal dysplasia in some cases. Additional ocular findings include microcornea, cataracts, corectopia and nystagmus. Intellectual disability is present in some patients. ",
"keywords": "KW-1013:Microphthalmia.; "
},
{
"identifier": "Microphthalmia, isolated, 2.",
"acronym": "MCOP2.",
"accession": "DI-00755",
"synonyms": "Isolated clinical anophthalmia.; ",
"cross_references": "MeSH; D008850.",
"definition": "A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. ",
"keywords": "KW-1013:Microphthalmia.; "
},
{
"identifier": "Microphthalmia, isolated, 4.",
"acronym": "MCOP4.",
"accession": "DI-02535",
"synonyms": "Isolated clinical anophthalmia.; ",
"cross_references": "MeSH; D008850.",
"definition": "A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. ",
"keywords": "KW-1013:Microphthalmia.; "
},
{
"identifier": "Microphthalmia, isolated, 5.",
"acronym": "MCOP5.",
"accession": "DI-00754",
"synonyms": "Microphthalmia MFRP-related.; Posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disk drusen.; ",
"cross_references": "MeSH; D008850.",
"definition": "A disorder characterized by posterior microphthalmia, retinitis pigmentosa, foveoschisis and optic disk drusen. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. ",
"keywords": "KW-1013:Microphthalmia.; "
},
{
"identifier": "Microphthalmia, isolated, 6.",
"acronym": "MCOP6.",
"accession": "DI-02986",
"synonyms": "Autosomal recessive posterior microphthalmos.; Posterior non-syndromic microphthalmia.; ",
"cross_references": "MeSH; D008850.",
"definition": "A developmental ocular disorder characterized by small malformed eyes. Clinical features are extreme hyperopia due to short axial length with essentially normal anterior segment, steep corneal curvatures, shallow anterior chamber, thick lenses, and thickened scleral wall. Palpebral fissures appear narrow because of relatively deep-set eyes, visual acuity is mildly to moderately reduced, and anisometropic or strabismic amblyopia is common. The fundus of the eye shows crowded optical disks, tortuous vessels, and an abnormal foveal avascular zone. ",
"keywords": "KW-1013:Microphthalmia.; "
},
{
"identifier": "Microphthalmia, isolated, 7.",
"acronym": "MCOP7.",
"accession": "DI-02974",
"synonyms": null,
"cross_references": "MeSH; D008850.",
"definition": "A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. ",
"keywords": "KW-1013:Microphthalmia.; "
},
{
"identifier": "Microphthalmia, isolated, 8.",
"acronym": "MCOP8.",
"accession": "DI-03703",
"synonyms": null,
"cross_references": "MeSH; D008850.",
"definition": "A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. ",
"keywords": "KW-1013:Microphthalmia.; "
},
{
"identifier": "Microphthalmia, syndromic, 1.",
"acronym": "MCOPS1.",
"accession": "DI-04013",
"synonyms": "ANOP1.; Lenz dysplasia.; Lenz microphthalmia syndrome.; MAA.; MCOPS4.; Microphthalmia, syndromic 4.; Microphthalmia or anophthalmos with associated anomalies.; ",
"cross_references": "MeSH; D008850.",
"definition": "A rare syndrome defined by the canonical features of unilateral or bilateral microphthalmia or anophthalmia and defects in the skeletal and genitourinary systems. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. Anomalies of the digits, teeth, and ears are hallmarks of MCOPS1. Intellectual disability ranges from mild to severe, with self-mutilating behaviors and seizures in severely affected MCOPS1 individuals. ",
"keywords": "KW-1013:Microphthalmia.; "
},
{
"identifier": "Microphthalmia, syndromic, 11.",
"acronym": "MCOPS11.",
"accession": "DI-03496",
"synonyms": "Microphthalmia with corpus callosum agenesis and orofacial clefting.; ",
"cross_references": "MeSH; D008850.",
"definition": "A rare clinical entity including as main characteristics microphthalmia and small optic nerves, cleft lip and palate, absence of corpus callosum, hippocampal malformations, and absence of the pineal gland. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. ",
"keywords": "KW-1013:Microphthalmia.; "
},
{
"identifier": "Microphthalmia, syndromic, 12.",
"acronym": "MCOPS12.",
"accession": "DI-03951",
"synonyms": "Microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects.; ",
"cross_references": "MeSH; D008850.",
"definition": "A form of microphthalmia, a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. MCOPS12 patients manifest variable features, including diaphragmatic hernia, pulmonary hypoplasia, and cardiac abnormalities. ",
"keywords": "KW-1013:Microphthalmia.; "
},
{
"identifier": "Microphthalmia, syndromic, 13.",
"acronym": "MCOPS13.",
"accession": "DI-04169",
"synonyms": "Colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation.; Maine microphthalmos.; ",
"cross_references": "MeSH; D008850.",
"definition": "A form of microphthalmia, a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. MCOPS13 patients exhibit colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation. ",
"keywords": "KW-1013:Microphthalmia.; "
},
{
"identifier": "Microphthalmia, syndromic, 15.",
"acronym": "MCOPS15.",
"accession": "DI-05725",
"synonyms": "Microphthalmia and/or coloboma with developmental delay.; ",
"cross_references": "MeSH; D008850.",
"definition": "A form of microphthalmia, a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. MCOPS15 is characterized by microphthalmia and/or coloboma, with developmental delay in which speech appears to be more severely affected than motor abilities. Additional ocular anomalies that have been observed include ptosis, keyhole-shaped pupils, microcornea, sclerocornea, and anterior segment dysgenesis. ",
"keywords": "KW-1013:Microphthalmia.; "
},
{
"identifier": "Microphthalmia, syndromic 16.",
"acronym": "MCOPS16.",
"accession": "DI-00756",
"synonyms": "MCOP3.; Microphthalmia, isolated, 3.; ",
"cross_references": "MeSH; D008850.",
"definition": "An autosomal recessive disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. Some patients exhibit developmental delay and intellectual disability or autism. ",
"keywords": "KW-1013:Microphthalmia.; "
},
{
"identifier": "Microphthalmia, syndromic, 2.",
"acronym": "MCOPS2.",
"accession": "DI-00761",
"synonyms": "Marashi-Gorlin syndrome.; Microphthalmia, cataracts, radiculomegaly and septal heart defects.; Oculofaciocardiodental syndrome.; Oculo-facio-cardio-dental syndrome.; OFCD syndrome.; ",
"cross_references": "MeSH; D008850.",
"definition": "A very rare multiple congenital anomaly syndrome characterized by eye anomalies (congenital cataract, microphthalmia, or secondary glaucoma), facial abnormalities (long narrow face, high nasal bridge, pointed nose with cartilages separated at the tip, cleft palate, or submucous cleft palate), cardiac anomalies (atrial septal defect, ventricular septal defect, or floppy mitral valve) and dental abnormalities (canine radiculomegaly, delayed dentition, oligodontia, persistent primary teeth, or variable root length). Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. ",
"keywords": "KW-1013:Microphthalmia.; "
},
{
"identifier": "Microphthalmia, syndromic, 3.",
"acronym": "MCOPS3.",
"accession": "DI-00762",
"synonyms": "AEG syndrome.; Anophthalmia/microphthalmia-esophageal atresia.; Anophthalmia-esophageal-genital syndrome.; Microphthalmia and esophageal atresia syndrome.; ",
"cross_references": "MeSH; D008850.",
"definition": "A disease characterized by the rare association of malformations including uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with trachoesophageal fistula. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. ",
"keywords": "KW-1013:Microphthalmia.; "
},
{
"identifier": "Microphthalmia, syndromic, 5.",
"acronym": "MCOPS5.",
"accession": "DI-00763",
"synonyms": null,
"cross_references": "MeSH; D008850.",
"definition": "Patients manifest unilateral or bilateral microphthalmia/clinical anophthalmia and variable additional features including pituitary dysfunction, coloboma, microcornea, cataract, retinal dystrophy, hypoplasia or agenesis of the optic nerve, agenesis of the corpus callosum, developmental delay, joint laxity, hypotonia, and seizures. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. ",
"keywords": "KW-1013:Microphthalmia.; "
},
{
"identifier": "Microphthalmia, syndromic, 6.",
"acronym": "MCOPS6.",
"accession": "DI-00764",
"synonyms": "Clinical anophthalmia with micrognathia, malformed ears, digital anomalies and abnormal external genitalia.; Microphthalmia and pituitary anomalies.; Microphthalmia with brain and digit developmental anomalies.; ",
"cross_references": "MeSH; D008850.",
"definition": "A disease characterized by microphthalmia/anophthalmia associated with facial, genital, skeletal, neurologic and endocrine anomalies. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. ",
"keywords": "KW-1013:Microphthalmia.; "
},
{
"identifier": "Microphthalmia, syndromic, 8.",
"acronym": "MCOPS8.",
"accession": "DI-00766",
"synonyms": "Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism.; MMEP.; MMEP syndrome.; Viljoen-Smart syndrome.; ",
"cross_references": "MeSH; D008850.",
"definition": "A very rare congenital syndrome characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. ",
"keywords": "KW-1013:Microphthalmia.; "
}
]
}