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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3520&ordering=-synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3480&ordering=-synonyms",
"results": [
{
"identifier": "Chorioretinal atrophy, progressive bifocal.",
"acronym": "PBCRA.",
"accession": "DI-06013",
"synonyms": "Progressive bifocal chorioretinal atrophy.; ",
"cross_references": "MeSH; D012164.",
"definition": "An autosomal dominant, progressive chorioretinal dystrophy characterized by atrophic macular and nasal retinal lesions evident soon after birth, nystagmus, myopia, and poor vision. Retinal detachment is observed in some patients. ",
"keywords": null
},
{
"identifier": "Wiedemann-Rautenstrauch syndrome.",
"acronym": "WDRTS.",
"accession": "DI-05494",
"synonyms": "Progeroid syndrome, neonatal.; ",
"cross_references": "MeSH; D011371.",
"definition": "An autosomal recessive, neonatal progeroid disorder characterized by intrauterine growth retardation, failure to thrive, short stature, hypotonia, variable mental impairment, and a progeroid appearance. Clinical features include apparent macrocephaly, sparse hair, prominent scalp veins, entropion, greatly widened anterior fontanelles, malar hypoplasia, and generalized lipoatrophy. Death usually occurs in early childhood but survival to third decade has been reported. ",
"keywords": null
},
{
"identifier": "Nestor-Guillermo progeria syndrome.",
"acronym": "NGPS.",
"accession": "DI-03175",
"synonyms": "Progeria syndrome childhood-onset with osteolysis.; PSCOO.; ",
"cross_references": "MeSH; D011371.",
"definition": "An atypical progeroid syndrome characterized by normal development in the first years of life, later followed by the emergence of generalized lipoatrophy, severe osteoporosis, and marked osteolysis. The atrophic facial subcutaneous fat pad and the marked osteolysis of the maxilla and mandible result in a typical pseudosenile facial appearance with micrognathia, prominent subcutaneous venous patterning, a convex nasal ridge, and proptosis. Cognitive development is completely normal. Patients do not have cardiovascular dysfunction, atherosclerosis, or metabolic anomalies. ",
"keywords": "KW-1285:Osteoporosis.; "
},
{
"identifier": "Thrombophilia due to protein C deficiency, autosomal recessive.",
"acronym": "THPH4.",
"accession": "DI-00957",
"synonyms": "PROC deficiency autosomal recessive.; Protein C deficiency autosomal recessive.; ",
"cross_references": "MeSH; D020151.",
"definition": "A hemostatic disorder characterized by impaired regulation of blood coagulation and a tendency to recurrent venous thrombosis. It results in a thrombotic condition that can manifest as a severe neonatal disorder or as a milder disorder with late-onset thrombophilia. The severe form leads to neonatal death through massive neonatal venous thrombosis. Often associated with ecchymotic skin lesions which can turn necrotic called purpura fulminans, this disorder is very rare. ",
"keywords": "KW-0792:Thrombophilia.; "
},
{
"identifier": "Thrombophilia due to protein C deficiency, autosomal dominant.",
"acronym": "THPH3.",
"accession": "DI-00956",
"synonyms": "PROC deficiency autosomal dominant.; Protein C deficiency autosomal dominant.; ",
"cross_references": "MeSH; D020151.",
"definition": "A hemostatic disorder characterized by impaired regulation of blood coagulation and a tendency to recurrent venous thrombosis. Individuals with decreased amounts of protein C are classically referred to as having type I protein C deficiency and those with normal amounts of a functionally defective protein as having type II deficiency. ",
"keywords": "KW-0792:Thrombophilia.; "
},
{
"identifier": "Glaucoma 1, open angle, P.",
"acronym": "GLC1P.",
"accession": "DI-03709",
"synonyms": "Primary open angle glaucoma 1P.; ",
"cross_references": "MeSH; D005902.",
"definition": "A form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. GLC1P is characterized by early onset, thin central corneas and low intraocular pressure. ",
"keywords": "KW-0955:Glaucoma.; "
},
{
"identifier": "Glaucoma 1, open angle, O.",
"acronym": "GLC1O.",
"accession": "DI-02594",
"synonyms": "Primary open angle glaucoma 1O.; ",
"cross_references": "MeSH; D005902.",
"definition": "A form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. ",
"keywords": "KW-0955:Glaucoma.; "
},
{
"identifier": "Glaucoma 1, open angle, G.",
"acronym": "GLC1G.",
"accession": "DI-00939",
"synonyms": "Primary open angle glaucoma 1G.; ",
"cross_references": "MeSH; D005902.",
"definition": "A form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. ",
"keywords": "KW-0955:Glaucoma.; "
},
{
"identifier": "ACTH-independent macronodular adrenal hyperplasia 2.",
"acronym": "AIMAH2.",
"accession": "DI-04195",
"synonyms": "Primary macronodular adrenal hyperplasia.; ",
"cross_references": "MeSH; D003480.",
"definition": "A form of macronodular adrenal hyperplasia characterized by multiple, bilateral, non-pigmented, benign, adrenocortical nodules. It results in excessive production of cortisol leading to ACTH-independent Cushing syndrome. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes. ",
"keywords": "KW-1062:Cushing syndrome.; "
},
{
"identifier": "Glaucoma 3, primary congenital, D.",
"acronym": "GLC3D.",
"accession": "DI-02595",
"synonyms": "Primary congenital glaucoma 3D.; ",
"cross_references": "MeSH; D005901.",
"definition": "An autosomal recessive form of primary congenital glaucoma (PCG). PCG is characterized by marked increase of intraocular pressure at birth or early childhood, large ocular globes (buphthalmos) and corneal edema. It results from developmental defects of the trabecular meshwork and anterior chamber angle of the eye that prevent adequate drainage of aqueous humor. ",
"keywords": "KW-0955:Glaucoma.; "
},
{
"identifier": "Ciliary dyskinesia, primary, 29.",
"acronym": "CILD29.",
"accession": "DI-04144",
"synonyms": "Primary ciliary dyskinesia without situs inversus.; ",
"cross_references": "MeSH; D007619.",
"definition": "A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD29 patients do not exhibit situs inversus, a congenital abnormality in which visceral organs are opposite to their normal positions (situs solitus) due to lateral transposition. ",
"keywords": "KW-0990:Primary ciliary dyskinesia.; "
},
{
"identifier": "Ciliary dyskinesia, primary, 30.",
"acronym": "CILD30.",
"accession": "DI-04247",
"synonyms": "Primary ciliary dyskinesia 30 with or without situs inversus.; ",
"cross_references": "MeSH; D007619.",
"definition": "A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. ",
"keywords": "KW-1012:Kartagener syndrome.; "
},
{
"identifier": "Ciliary dyskinesia, primary, 28.",
"acronym": "CILD28.",
"accession": "DI-03944",
"synonyms": "Primary ciliary dyskinesia 28 with or without situs inversus.; ",
"cross_references": "MeSH; D007619.",
"definition": "A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. ",
"keywords": "KW-1012:Kartagener syndrome.; "
},
{
"identifier": "Ciliary dyskinesia, primary, 27.",
"acronym": "CILD27.",
"accession": "DI-03938",
"synonyms": "Primary ciliary dyskinesia 27 with or without situs inversus.; ",
"cross_references": "MeSH; D007619.",
"definition": "A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. ",
"keywords": "KW-1012:Kartagener syndrome.; "
},
{
"identifier": "Ciliary dyskinesia, primary, 26.",
"acronym": "CILD26.",
"accession": "DI-03936",
"synonyms": "Primary ciliary dyskinesia 26 with or without situs inversus.; ",
"cross_references": "MeSH; D007619.",
"definition": "A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. ",
"keywords": "KW-1012:Kartagener syndrome.; "
},
{
"identifier": "Ciliary dyskinesia, primary, 25.",
"acronym": "CILD25.",
"accession": "DI-03917",
"synonyms": "Primary ciliary dyskinesia 25 with or without situs inversus.; ",
"cross_references": "MeSH; D007619.",
"definition": "A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. ",
"keywords": "KW-1012:Kartagener syndrome.; "
},
{
"identifier": "Ciliary dyskinesia, primary, 23.",
"acronym": "CILD23.",
"accession": "DI-03903",
"synonyms": "Primary ciliary dyskinesia 23 with or without situs inversus.; ",
"cross_references": "MeSH; D007619.",
"definition": "A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. ",
"keywords": "KW-1012:Kartagener syndrome.; "
},
{
"identifier": "Ciliary dyskinesia, primary, 22.",
"acronym": "CILD22.",
"accession": "DI-03904",
"synonyms": "Primary ciliary dyskinesia 22 with or without situs inversus.; ",
"cross_references": "MeSH; D007619.",
"definition": "A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. ",
"keywords": "KW-1012:Kartagener syndrome.; "
},
{
"identifier": "Ciliary dyskinesia, primary, 21.",
"acronym": "CILD21.",
"accession": "DI-03807",
"synonyms": "Primary ciliary dyskinesia 21 without situs inversus.; ",
"cross_references": "MeSH; D007619.",
"definition": "A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. ",
"keywords": "KW-0990:Primary ciliary dyskinesia.; "
},
{
"identifier": "Reynolds syndrome.",
"acronym": "REYNS.",
"accession": "DI-02850",
"synonyms": "Primary biliary cirrhosis scleroderma Raynaud disease and telangiectasia.; ",
"cross_references": "MeSH; D045745.",
"definition": "A syndrome specifically associating limited cutaneous systemic sclerosis and primary biliary cirrhosis. It is characterized by liver disease, telangiectasia, abrupt onset of digital paleness or cyanosis in response to cold exposure or stress (Raynaud phenomenon), and variable features of scleroderma. The liver disease is characterized by pruritis, jaundice, hepatomegaly, increased serum alkaline phosphatase and positive serum mitochondrial autoantibodies, all consistent with primary biliary cirrhosis. ",
"keywords": null
}
]
}