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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=700&ordering=synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=660&ordering=synonyms",
"results": [
{
"identifier": "Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy.",
"acronym": "CPVT1.",
"accession": "DI-00249",
"synonyms": "Bidirectional tachycardia.; Double tachycardia induced by catecholamines.; Malignant paroxysmal ventricular tachycardia.; Multifocal ventricular premature beats.; Paroxysmal ventricular fibrillation.; Stress-induced polymorphic ventricular tachycardia.; Syncopal paroxysmal tachycardia.; Syncopal tachyarythmia.; Ventricular tachycardia, stress-induced polymorphic 1.; Ventricular tachycardia catecholaminergic polymorphic 1.; VTSIP.; VTSIP1.; ",
"cross_references": "MeSH; D017180.",
"definition": "An arrhythmogenic disorder characterized by stress-induced, bidirectional ventricular tachycardia that may degenerate into cardiac arrest and cause sudden death. Patients present with recurrent syncope, seizures, or sudden death after physical activity or emotional stress. CPVT1 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Ventricular tachycardia, catecholaminergic polymorphic, 4.",
"acronym": "CPVT4.",
"accession": "DI-03610",
"synonyms": "Bidirectional tachycardia.; Double tachycardia induced by catecholamines.; Malignant paroxysmal ventricular tachycardia.; Multifocal ventricular premature beats.; Paroxysmal ventricular fibrillation.; Stress-induced polymorphic ventricular tachycardia.; Syncopal paroxysmal tachycardia.; Syncopal tachyarythmia.; VTSIP.; ",
"cross_references": "MeSH; D017180.",
"definition": "An arrhythmogenic disorder characterized by stress-induced, bidirectional ventricular tachycardia that may degenerate into cardiac arrest and cause sudden death. Patients present with recurrent syncope, seizures, or sudden death after physical activity or emotional stress. CPVT4 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Bietti crystalline corneoretinal dystrophy.",
"acronym": "BCD.",
"accession": "DI-01280",
"synonyms": "Bietti crystalline dystrophy.; Bietti tapetoretinal degeneration with marginal corneal dystrophy.; Crystalline retinopathy.; ",
"cross_references": "MeSH; D012164.",
"definition": "An autosomal recessive ocular disease characterized by retinal degeneration and marginal corneal dystrophy. Typical features include multiple glistening intraretinal crystals scattered over the fundus, a characteristic degeneration of the retina, and sclerosis of the choroidal vessels, ultimately resulting in progressive night blindness and constriction of the visual field. Most patients have similar crystals at the corneoscleral limbus. Patients develop decreased vision, nyctalopia, and paracentral scotomata between the 2nd and 4th decade of life. Later, they develop peripheral visual field loss and marked visual impairment, usually progressing to legal blindness by the 5th or 6th decade of life. ",
"keywords": "KW-1212:Corneal dystrophy.; "
},
{
"identifier": "Bifid nose, with or without anorectal and renal anomalies.",
"acronym": "BNAR.",
"accession": "DI-02627",
"synonyms": "Bifid nose renal agenesis and anorectal malformations syndrome.; ",
"cross_references": "MeSH; D009668.",
"definition": "A disease characterized by the presence of a bifid nose usually associated with renal agenesis and anorectal malformations. A bifid nose is a congenital deformity due to failure of the paired nasal processes to fuse to a single midline organ during early gestation. ",
"keywords": null
},
{
"identifier": "Bilateral optic nerve hypoplasia.",
"acronym": "BONH.",
"accession": "DI-01282",
"synonyms": "Bilateral optic nerve aplasia.; ",
"cross_references": "MeSH; D000013.",
"definition": "A congenital anomaly in which the optic disk appears abnormally small. It may be an isolated finding or part of a spectrum of anatomic and functional abnormalities that includes partial or complete agenesis of the septum pellucidum, other midline brain defects, cerebral anomalies, pituitary dysfunction, and structural abnormalities of the pituitary. ",
"keywords": null
},
{
"identifier": "Thiamine metabolism dysfunction syndrome 4, bilateral striatal degeneration and progressive polyneuropathy type.",
"acronym": "THMD4.",
"accession": "DI-03011",
"synonyms": "Bilateral striatal degeneration and progressive polyneuropathy.; Striatal necrosis, bilateral and progressive polyneuropathy.; ",
"cross_references": "MeSH; D001480.",
"definition": "A disease characterized by recurrent episodes of flaccid paralysis and encephalopathy associated with bilateral striatal necrosis and chronic progressive polyneuropathy. ",
"keywords": "KW-0622:Neuropathy.; "
},
{
"identifier": "Hypercholanemia, familial, 1.",
"acronym": "FHCA1.",
"accession": "DI-00492",
"synonyms": "Bile acid, elevated serum.; ",
"cross_references": "MeSH; D008286.",
"definition": "A disorder characterized by elevated serum bile acid concentrations, itching, and fat malabsorption. ",
"keywords": null
},
{
"identifier": "Hypertension and brachydactyly syndrome.",
"acronym": "HTNB.",
"accession": "DI-04464",
"synonyms": "Bilginturan syndrome.; Brachydactyly, type E, with short stature and hypertension.; Brachydactyly type E with short stature and hypertension.; Brachydactyly with hypertension.; ",
"cross_references": "MeSH; D059327.",
"definition": "A syndrome characterized by brachydactyly type E, severe salt- independent but age-dependent hypertension, an increased fibroblast growth rate, neurovascular contact at the rostral-ventrolateral medulla, and altered baroreflex blood pressure regulation. It results in death from stroke before age 50 years when untreated. Brachydactyly type E is characterized by shortening of the fingers mainly in the metacarpals and metatarsals. ",
"keywords": null
},
{
"identifier": "B-cell immunodeficiency, distal limb anomalies, and urogenital malformations.",
"acronym": "BILU.",
"accession": "DI-06278",
"synonyms": "BILU syndrome.; Hoffman syndrome.; ",
"cross_references": "MeSH; D007153.",
"definition": "An autosomal dominant disorder characterized by humoral immunodeficiency with undetectable B cells, distal limb anomalies, dysmorphic facial features, and urogenital malformations. ",
"keywords": null
},
{
"identifier": "Mirror movements 1.",
"acronym": "MRMV1.",
"accession": "DI-02833",
"synonyms": "Bimanual synergia.; Congenital mirror movements.; Mirror movements 1 and/or agenesis of the corpus callosum.; ",
"cross_references": "MeSH; D020820.",
"definition": "A disorder characterized by contralateral involuntary movements that mirror voluntary ones. While mirror movements are occasionally found in young children, persistence beyond the age of 10 is abnormal. Mirror movements occur more commonly in the upper extremities. Some MRMV1 patients have agenesis of the corpus callosum. ",
"keywords": null
},
{
"identifier": "Kowarski syndrome.",
"acronym": "KWKS.",
"accession": "DI-01869",
"synonyms": "Biodefective growth hormone.; Pituitary dwarfism with normal immunoreactive growth hormone and low somatomedin.; ",
"cross_references": "MeSH; D004393.",
"definition": "A syndrome clinically characterized by short stature associated with bioinactive growth hormone, normal or slightly increased growth hormone secretion, pathologically low insulin-like growth factor 1 levels, and normal catch-up growth on growth hormone replacement therapy. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Holocarboxylase synthetase deficiency.",
"acronym": "HLCS deficiency.",
"accession": "DI-00565",
"synonyms": "Biotin-responsive MCD.; Biotin-responsive multiple carboxylase deficiency.; Early-onset MCD.; Early-onset multiple carboxylase deficiency.; MCD neonatal form.; ",
"cross_references": "MeSH; D028922.",
"definition": "A neonatal form of multiple carboxylase deficiency, an autosomal recessive disorder of biotin metabolism, characterized by ketoacidosis, hyperammonemia, excretion of abnormal organic acid metabolites, and dermatitis. In holocarboxylase synthetase deficiency, clinical and biochemical symptoms improve dramatically with administration of biotin. ",
"keywords": null
},
{
"identifier": "Major affective disorder 7.",
"acronym": "MAFD7.",
"accession": "DI-02890",
"synonyms": "Bipolar affective disorder.; Manic depressive illness.; Manic-depressive psychosis.; ",
"cross_references": "MeSH; D001714.",
"definition": "A major psychiatric disorder that is characterized by severe mood swings, with fluctuation between two abnormal mood states (manic or major depressive episode). Mania is accompanied by symptoms of euphoria, irritability, or excitation, whereas depression is associated with low mood and decreased motivation and energy. ",
"keywords": null
},
{
"identifier": "Seckel syndrome 2.",
"acronym": "SCKL2.",
"accession": "DI-03353",
"synonyms": "Bird-headed dwarfism 2.; Microcephalic primordial dwarfism 2.; Seckel-type dwarfism 2.; ",
"cross_references": "MeSH; D008831.",
"definition": "A rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and intellectual disability. ",
"keywords": "KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Seckel syndrome 1.",
"acronym": "SCKL1.",
"accession": "DI-01008",
"synonyms": "Bird-headed dwarfism.; Microcephalic primordial dwarfism I.; Nanocephalic dwarfism.; Seckel-type dwarfism.; ",
"cross_references": "MeSH; D008831.",
"definition": "A rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and intellectual disability. ",
"keywords": "KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Agenesis of the corpus callosum, with facial anomalies and cerebellar ataxia.",
"acronym": "CCAFCA.",
"accession": "DI-04654",
"synonyms": "Birk-Flusser syndrome.; Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia.; ",
"cross_references": "MeSH; D061085.",
"definition": "An autosomal recessive intellectual disability syndrome characterized by congenital microcephaly, low anterior hairline, bitemporal narrowing, low-set protruding ears, strabismus and tented thick eyebrows with sparse hair in their medial segment. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Hyperthyroxinemia, familial dysalbuminemic.",
"acronym": "FDAH.",
"accession": "DI-01565",
"synonyms": "Bisalbuminemia.; ",
"cross_references": "MeSH; D050010.",
"definition": "A disorder characterized by abnormally elevated levels of total serum thyroxine (T4) in euthyroid patients. It is due to abnormal serum albumin that binds T4 with enhanced affinity. ",
"keywords": null
},
{
"identifier": "Erythrocytosis, familial, 8.",
"acronym": "ECYT8.",
"accession": "DI-03027",
"synonyms": "Bisphosphoglycerate mutase deficiency.; Bisphosphoglyceromutase deficiency.; BPGM deficiency.; Diphosphoglycerate mutase deficiency of erythrocyte.; DPGM deficiency.; Erythrocytosis due to bisphosphoglycerate mutase deficiency.; ",
"cross_references": "MeSH; D000743.",
"definition": "An autosomal recessive disorder characterized by elevated serum hemoglobin and hematocrit, and biphosphoglycerate mutase deficiency. ECYT8 affected individuals manifest hemolytic anemia and splenomegaly. ",
"keywords": "KW-0985:Congenital erythrocytosis.; "
},
{
"identifier": "Focal facial dermal dysplasia 3, Setleis type.",
"acronym": "FFDD3.",
"accession": "DI-03079",
"synonyms": "Bitemporal forceps marks syndrome.; Facial ectodermal dysplasia.; FFDD type II.; FFDD type III.; Focal facial dermal dysplasia type II.; Focal facial dermal dysplasia type III.; Setleis syndrome.; ",
"cross_references": "MeSH; D004476.",
"definition": "A form of focal facial dermal dysplasia, a group of developmental defects characterized by bitemporal or preauricular skin lesions resembling aplasia cutis congenita. FFDD3 is characterized by distinctive bitemporal scar-like depressions resembling forceps marks, and additional facial features, including a coarse and leonine appearance, absent eyelashes on both lids or multiple rows on the upper lids, absent Meibomian glands, slanted eyebrows, chin clefting, and hypo- or hyperpigmentation of the skin. Histologically, the bitemporal lesion is an ectodermal dysplasia with near absence of subcutaneous fat, suggesting insufficient migration of neural crest cells into the frontonasal process and the first branchial arch. ",
"keywords": "KW-0038:Ectodermal dysplasia.; "
},
{
"identifier": "Bjoernstad syndrome.",
"acronym": "BJS.",
"accession": "DI-01285",
"synonyms": "Bjornstad syndrome.; Pili torti and nerve deafness.; PTD.; ",
"cross_references": "MeSH; D006319.",
"definition": "An autosomal recessive disease characterized by congenital sensorineural hearing loss and twisted hairs (pili torti). Pili torti is a condition in which the hair shafts are flattened at irregular intervals and twisted 180 degrees from the normal axis, making the hair extremely brittle. ",
"keywords": "KW-0209:Deafness.; "
}
]
}