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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=320&ordering=-synonyms",
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"results": [
{
"identifier": "Basal ganglia calcification, idiopathic, 8, autosomal recessive.",
"acronym": "IBGC8.",
"accession": "DI-05778",
"synonyms": null,
"cross_references": "MeSH; D002114.",
"definition": "A form of basal ganglia calcification, a genetically heterogeneous condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas. ",
"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": "Acrodermatitis enteropathica, zinc-deficiency type.",
"acronym": "AEZ.",
"accession": "DI-00027",
"synonyms": null,
"cross_references": "MeSH; D000169.",
"definition": "A rare autosomal recessive disease caused by the inability to absorb sufficient zinc. The clinical features are growth retardation, immune- system dysfunction, alopecia, severe dermatitis, diarrhea and occasionally mental disorders. ",
"keywords": null
},
{
"identifier": "Autoinflammatory syndrome, familial, Behcet-like 1.",
"acronym": "AIFBL1.",
"accession": "DI-04635",
"synonyms": null,
"cross_references": "MeSH; D056660.",
"definition": "An autosomal dominant, autoinflammatory disorder with early onset, characterized by ulceration of mucosal surfaces, particularly in the oral and genital areas. Additional variable features include skin rash, uveitis, and polyarthritis. ",
"keywords": null
},
{
"identifier": "Spondyloepiphyseal dysplasia congenital type.",
"acronym": "SEDC.",
"accession": "DI-02333",
"synonyms": null,
"cross_references": "MedGen; C2745959.",
"definition": "Disorder characterized by disproportionate short stature and pleiotropic involvement of the skeletal and ocular systems. ",
"keywords": null
},
{
"identifier": "Aicardi-Goutieres syndrome 7.",
"acronym": "AGS7.",
"accession": "DI-04126",
"synonyms": null,
"cross_references": "MeSH; D020274.",
"definition": "A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood. ",
"keywords": "KW-0948:Aicardi-Goutieres syndrome.; "
},
{
"identifier": "Angioedema, hereditary, 4.",
"acronym": "HAE4.",
"accession": "DI-06124",
"synonyms": null,
"cross_references": "MeSH; D054179.",
"definition": "A form of angioedema, a disorder characterized by episodic local swelling involving subcutaneous or submucous tissue of the upper respiratory and gastrointestinal tracts, face, extremities, and genitalia. HAE4 is an autosomal dominant form with incomplete penetrance, variable expressivity, and female predominance. ",
"keywords": null
},
{
"identifier": "Angioedema, hereditary, 5.",
"acronym": "HAE5.",
"accession": "DI-06125",
"synonyms": null,
"cross_references": "MeSH; D054179.",
"definition": "A form of angioedema, a disorder characterized by episodic local swelling involving subcutaneous or submucous tissue of the upper respiratory and gastrointestinal tracts, face, extremities, and genitalia. HAE5 is an autosomal dominant form characterized by onset of episodic swelling of the face, lips, hands, and abdomen in the second decade of life. ",
"keywords": null
},
{
"identifier": "Angioedema, hereditary, 6.",
"acronym": "HAE6.",
"accession": "DI-06126",
"synonyms": null,
"cross_references": "MeSH; D054179.",
"definition": "A form of angioedema, a disorder characterized by episodic local swelling involving subcutaneous or submucous tissue of the upper respiratory and gastrointestinal tracts, face, extremities, and genitalia. HAE6 is an autosomal dominant form with onset in adulthood. ",
"keywords": null
},
{
"identifier": "Angioedema, hereditary, 7.",
"acronym": "HAE7.",
"accession": "DI-06127",
"synonyms": null,
"cross_references": "MeSH; D054179.",
"definition": "A form of angioedema, a disorder characterized by episodic local swelling involving subcutaneous or submucous tissue of the upper respiratory and gastrointestinal tracts, face, extremities, and genitalia. HAE7 is an autosomal dominant form characterized by onset of recurrent swelling of the face, lips, and oral mucosa in the second decade. ",
"keywords": null
},
{
"identifier": "Angioedema, hereditary, 8.",
"acronym": "HAE8.",
"accession": "DI-06128",
"synonyms": null,
"cross_references": "MeSH; D054179.",
"definition": "A form of angioedema, a disorder characterized by episodic local swelling involving subcutaneous or submucous tissue of the upper respiratory and gastrointestinal tracts, face, extremities, and genitalia. HAE8 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Angiomatoid fibrous histiocytoma.",
"acronym": "AFH.",
"accession": "DI-02611",
"synonyms": null,
"cross_references": "MeSH; D051677.",
"definition": "A distinct variant of malignant fibrous histiocytoma that typically occurs in children and adolescents and is manifest by nodular subcutaneous growth. Characteristic microscopic features include lobulated sheets of histiocyte-like cells intimately associated with areas of hemorrhage and cystic pseudovascular spaces, as well as a striking cuffing of inflammatory cells, mimicking a lymph node metastasis. ",
"keywords": null
},
{
"identifier": "Acrodysostosis 2, with or without hormone resistance.",
"acronym": "ACRDYS2.",
"accession": "DI-03460",
"synonyms": null,
"cross_references": "MeSH; D004413.",
"definition": "A pleiotropic disorder characterized by skeletal, endocrine, and neurological abnormalities. Skeletal features include brachycephaly, midface hypoplasia with a small upturned nose, brachydactyly, and lumbar spinal stenosis. Endocrine abnormalities include hypothyroidism and hypogonadism in males and irregular menses in females. Developmental disability is a common finding but is variable in severity and can be associated with significant behavioral problems. ",
"keywords": null
},
{
"identifier": "Arthrogryposis multiplex congenita 6.",
"acronym": "AMC6.",
"accession": "DI-06114",
"synonyms": null,
"cross_references": "MeSH; D001176.",
"definition": "A form of arthrogryposis multiplex congenita, a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. AMC6 is an autosomal recessive lethal form. Death usually occurs in utero or in infancy. ",
"keywords": null
},
{
"identifier": "Al-Raqad syndrome.",
"acronym": "ARS.",
"accession": "DI-04480",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "A syndrome characterized by delayed psychomotor development, moderate to severe intellectual disability, poor or absent speech, microcephaly, congenital hypotonia, and severe growth delay. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"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": "Alacrima, achalasia, and impaired intellectual development syndrome.",
"acronym": "AAMR.",
"accession": "DI-03937",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive disorder characterized by onset of alacrima, achalasia, and intellectual disability at birth or in early infancy. More variable features include hypotonia, gait abnormalities, anisocoria, and visual or hearing deficits. The disorder shows similarity to the triple A syndrome, but patients with AAMR do not have adrenal insufficiency. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"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": "Cardiomyopathy, dilated, 1EE.",
"acronym": "CMD1EE.",
"accession": "DI-02682",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
}
]
}