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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=320&ordering=identifier",
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"results": [
{
"identifier": "Anhidrosis, isolated, with normal sweat glands.",
"acronym": "ANHD.",
"accession": "DI-04405",
"synonyms": "Anhidrosis, familial generalized, with normal sweat glands.; Dann-Epstein-Sohar syndrome.; ",
"cross_references": "MeSH; D007007.",
"definition": "An autosomal recessive disorder characterized by generalized, isolated anhidrosis, severe heat intolerance, and morphologically normal eccrine sweat glands. Body growth, teeth, hair, nails, and skin are normal. ",
"keywords": null
},
{
"identifier": "Aniridia 1.",
"acronym": "AN1.",
"accession": "DI-01184",
"synonyms": "AN.; AN2.; Aniridia type II.; ",
"cross_references": "MeSH; D015783.",
"definition": "A congenital, bilateral, panocular disorder characterized by complete absence of the iris or extreme iris hypoplasia. Aniridia is not just an isolated defect in iris development but it is associated with macular and optic nerve hypoplasia, cataract, corneal changes, nystagmus. Visual acuity is generally low but is unrelated to the degree of iris hypoplasia. Glaucoma is a secondary problem causing additional visual loss over time. ",
"keywords": null
},
{
"identifier": "Aniridia 2.",
"acronym": "AN2.",
"accession": "DI-04858",
"synonyms": null,
"cross_references": "MeSH; D015783.",
"definition": "A form of aniridia, a congenital, bilateral, panocular disorder characterized by complete absence of the iris or extreme iris hypoplasia. Aniridia is not just an isolated defect in iris development but it is associated with macular and optic nerve hypoplasia, cataract, corneal changes, nystagmus. Visual acuity is generally low but is unrelated to the degree of iris hypoplasia. Glaucoma is a secondary problem causing additional visual loss over time. ",
"keywords": null
},
{
"identifier": "Aniridia 3.",
"acronym": "AN3.",
"accession": "DI-04859",
"synonyms": null,
"cross_references": "MeSH; D015783.",
"definition": "A form of aniridia, a congenital, bilateral, panocular disorder characterized by complete absence of the iris or extreme iris hypoplasia. Aniridia is not just an isolated defect in iris development but it is associated with macular and optic nerve hypoplasia, cataract, corneal changes, nystagmus. Visual acuity is generally low but is unrelated to the degree of iris hypoplasia. Glaucoma is a secondary problem causing additional visual loss over time. ",
"keywords": null
},
{
"identifier": "Ankyloblepharon-ectodermal defects-cleft lip/palate.",
"acronym": "AEC.",
"accession": "DI-00122",
"synonyms": "AEC syndrome.; Ankyloblepharon-ectodermal defect-cleft lip/palate.; Hay-Wells syndrome.; ",
"cross_references": "MeSH; D004476.",
"definition": "An autosomal dominant condition characterized by congenital ectodermal dysplasia with coarse, wiry, sparse hair, dystrophic nails, slight hypohidrosis, scalp infections, ankyloblepharon filiform adnatum, maxillary hypoplasia, hypodontia and cleft lip/palate. ",
"keywords": "KW-0038:Ectodermal dysplasia.; "
},
{
"identifier": "Anorexia nervosa.",
"acronym": "ANON.",
"accession": "DI-04568",
"synonyms": null,
"cross_references": "MeSH; D000856.",
"definition": "An eating disorder characterized by the lack or loss of appetite, excess fear of becoming overweight, body image disturbance, significant weight loss, refusal to maintain minimal normal weight, and amenorrhea. ",
"keywords": null
},
{
"identifier": "Anterior segment anomalies with or without cataract.",
"acronym": "ASA.",
"accession": "DI-03442",
"synonyms": null,
"cross_references": "MeSH; D005124.",
"definition": "A disease characterized by various types of developmental eye anomalies, in the absence of other abnormalities. The phenotypic spectrum of anterior segment anomalies include central corneal opacity, Peters anomaly, and bilateral persistence of the pupillary membrane. Some patients have cataract. ",
"keywords": null
},
{
"identifier": "Anterior segment dysgenesis 1.",
"acronym": "ASGD1.",
"accession": "DI-00123",
"synonyms": "Anterior segment mesenchymal dysgenesis.; Anterior segment ocular dysgenesis.; ASMD.; ASOD.; Familial ocular anterior segment mesenchymal dysgenesis.; ",
"cross_references": "MeSH; D005124.",
"definition": "A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. ",
"keywords": null
},
{
"identifier": "Anterior segment dysgenesis 2.",
"acronym": "ASGD2.",
"accession": "DI-01416",
"synonyms": "Aphakia, congenital primary.; Congenital primary aphakia.; CPA.; CPAK.; ",
"cross_references": "MeSH; D001035.",
"definition": "A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. Some ASGD2 patients show congenital primary aphakia, a defect caused by eye development arrest around the 4th-5th week of gestation. This prevents the formation of any lens structure and leads to severe secondary ocular anomalies, including a complete aplasia of the anterior segment of the eye. In contrast, in secondary aphakic eyes, lens induction has occurred, and the lens vesicle has developed to some degree but finally has progressively resorbed perinatally, leading, therefore, to less severe ocular defects. ASGD2 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Anterior segment dysgenesis 3.",
"acronym": "ASGD3.",
"accession": "DI-01832",
"synonyms": "Glaucoma iridogoniodysplasia, familial.; IGDA.; Irid1.; Iridogoniodysgenesis, type 1.; Iridogoniodysgenesis anomaly.; Iridogoniodysgenesis anomaly, autosomal dominant.; Iris hypoplasia with glaucoma.; ",
"cross_references": "MeSH; D005124.",
"definition": "A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. ASGD3 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Anterior segment dysgenesis 4.",
"acronym": "ASGD4.",
"accession": "DI-01833",
"synonyms": "IGDS2.; IHGA.; IRID2.; Iridogoniodysgenesis syndrome 2.; Iridogoniodysgenesis type 2.; Iris hypoplasia with early-onset glaucoma, autosomal dominant.; ",
"cross_references": "MeSH; D005124.",
"definition": "A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. ASGD4 is an autosomal dominant disease. ",
"keywords": null
},
{
"identifier": "Anterior segment dysgenesis 5.",
"acronym": "ASGD5.",
"accession": "DI-02157",
"synonyms": null,
"cross_references": "MeSH; D005124.",
"definition": "A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. ",
"keywords": null
},
{
"identifier": "Anterior segment dysgenesis 6.",
"acronym": "ASGD6.",
"accession": "DI-04923",
"synonyms": null,
"cross_references": "MeSH; D005124.",
"definition": "A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. ASGD6 patients predominantly manifest Peters anomaly. Peters anomaly consists of corneal leukoma, defects in the posterior structures of the cornea such as absence of the posterior corneal stroma and Descemet membrane, and a variable degree of iridocorneal and/or keratolenticular adhesions. Over 50% of patients develop glaucoma in childhood. ",
"keywords": null
},
{
"identifier": "Anterior segment dysgenesis 7.",
"acronym": "ASGD7.",
"accession": "DI-04168",
"synonyms": "COPOA.; Corneal opacification with other ocular anomalies.; Sclerocornea with other ocular anomalies.; ",
"cross_references": "MeSH; D003316.",
"definition": "A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. ASGD7 is an autosomal recessive disease. ",
"keywords": null
},
{
"identifier": "Anterior segment dysgenesis 8.",
"acronym": "ASGD8.",
"accession": "DI-04922",
"synonyms": null,
"cross_references": "MeSH; D005124.",
"definition": "A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. ASGD8 patients predominantly manifest iris and lens abnormalities, in the absence of retinal abnormalities or extra- ocular features. ASGD8 transmission pattern is consistent with autosomal recessive inheritance. ",
"keywords": null
},
{
"identifier": "Antithrombin III deficiency.",
"acronym": "AT3D.",
"accession": "DI-00124",
"synonyms": "Antithrombin 3 deficiency.; Antithrombin deficiency.; Antithrombin-III deficiency.; AT-III deficiency.; THPH7.; Thrombophilia due to antithrombin-III deficiency.; ",
"cross_references": "MeSH; D020152.",
"definition": "An important risk factor for hereditary thrombophilia, a hemostatic disorder characterized by a tendency to recurrent thrombosis. Antithrombin-III deficiency is classified into 4 types. Type I: characterized by a 50% decrease in antigenic and functional levels. Type II: has defects affecting the thrombin-binding domain. Type III: alteration of the heparin-binding domain. Plasma AT-III antigen levels are normal in type II and III. Type IV: consists of miscellaneous group of unclassifiable mutations. ",
"keywords": "KW-0792:Thrombophilia.; "
},
{
"identifier": "Antley-Bixler syndrome, with genital anomalies and disordered steroidogenesis.",
"acronym": "ABS1.",
"accession": "DI-00046",
"synonyms": "Antley-Bixler syndrome-like phenotype with disordered steroidogenesis.; Cytochrome P450 oxidoreductase deficiency.; POR deficiency.; ",
"cross_references": "MeSH; D054882.",
"definition": "A disease characterized by the association of Antley-Bixler syndrome with steroidogenesis defects and abnormal genitalia. Antley-Bixler syndrome is characterized by craniosynostosis, radiohumeral synostosis present from the perinatal period, midface hypoplasia, choanal stenosis or atresia, femoral bowing and multiple joint contractures. ",
"keywords": "KW-0989:Craniosynostosis.; "
},
{
"identifier": "Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis.",
"acronym": "ABS2.",
"accession": "DI-00125",
"synonyms": "Multisynostotic osteodysgenesis with long bone fractures.; Osteodysgenesis multisynostotic with fractures.; Trapezoidocephaly-synostosis syndrome.; ",
"cross_references": "MeSH; D054882.",
"definition": "A rare syndrome characterized by craniosynostosis, radiohumeral synostosis present from the perinatal period, midface hypoplasia, choanal stenosis or atresia, femoral bowing and multiple joint contractures. Arachnodactyly and/or camptodactyly have also been reported. ",
"keywords": "KW-0989:Craniosynostosis.; "
},
{
"identifier": "Aortic aneurysm, familial abdominal.",
"acronym": "AAA.",
"accession": "DI-00126",
"synonyms": null,
"cross_references": "MeSH; D017544.",
"definition": "A common multifactorial disorder characterized by permanent dilation of the abdominal aorta, usually due to degenerative changes in the aortic wall. Histologically, AAA is characterized by signs of chronic inflammation, destructive remodeling of the extracellular matrix, and depletion of vascular smooth muscle cells. ",
"keywords": "KW-0993:Aortic aneurysm.; "
},
{
"identifier": "Aortic aneurysm, familial thoracic 10.",
"acronym": "AAT10.",
"accession": "DI-04842",
"synonyms": "Aortic aneurysm, thoracic, with or without aortic dissection.; ",
"cross_references": "MeSH; D017545.",
"definition": "A form of thoracic aortic aneurysm, a disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. ",
"keywords": "KW-0993:Aortic aneurysm.; "
}
]
}