Human Disease List
GET /api/human_diseases/?format=api&offset=6020&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6040&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6000&ordering=-identifier", "results": [ { "identifier": "Bryant-Li-Bhoj neurodevelopmental syndrome 1.", "acronym": "BRYLIB1.", "accession": "DI-06327", "synonyms": null, "cross_references": "MeSH; D065886.", "definition": "An autosomal dominant disorder predominantly characterized by global developmental delay, impaired intellectual development, poor or absent speech, and delayed motor milestones. Clinical manifestations are highly variable, including abnormal head shape, dysmorphic facial features, oculomotor abnormalities, feeding problems, and non-specific brain imaging abnormalities. Additional features may include hearing loss, seizures, short stature, and mild skeletal defects. ", "keywords": "KW-0991:Intellectual disability.; " }, { "identifier": "Brunner syndrome.", "acronym": "BRNRS.", "accession": "DI-00206", "synonyms": "Susceptibility to antisocial behavior.; ", "cross_references": "MeSH; D008607.", "definition": "A form of X-linked non-dysmorphic mild intellectual disability. Male patients are affected by borderline intellectual deficit and exhibit abnormal behavior, including disturbed regulation of impulsive aggression. Obligate female carriers have normal intelligence and behavior. ", "keywords": "KW-0991:Intellectual disability.; " }, { "identifier": "Brunet-Wagner neurodevelopmental syndrome.", "acronym": "BRUWAG.", "accession": "DI-06308", "synonyms": null, "cross_references": "MeSH; D065886.", "definition": "An autosomal recessive disorder characterized by severe developmental delay, intellectual disability, poor or absent speech, infantile hypotonia, inability to walk, behavioral abnormalities, and dysmorphic features. ", "keywords": "KW-0991:Intellectual disability.; " }, { "identifier": "Brugada syndrome 9.", "acronym": "BRGDA9.", "accession": "DI-04444", "synonyms": null, "cross_references": "MeSH; D053840.", "definition": "A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset. ", "keywords": "KW-0992:Brugada syndrome.; " }, { "identifier": "Brugada syndrome 8.", "acronym": "BRGDA8.", "accession": "DI-02557", "synonyms": null, "cross_references": "MeSH; D053840.", "definition": "A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset. ", "keywords": "KW-0992:Brugada syndrome.; " }, { "identifier": "Brugada syndrome 7.", "acronym": "BRGDA7.", "accession": "DI-02503", "synonyms": null, "cross_references": "MeSH; D053840.", "definition": "A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset. ", "keywords": "KW-0992:Brugada syndrome.; " }, { "identifier": "Brugada syndrome 6.", "acronym": "BRGDA6.", "accession": "DI-02501", "synonyms": null, "cross_references": "MeSH; D053840.", "definition": "A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset. ", "keywords": "KW-0992:Brugada syndrome.; " }, { "identifier": "Brugada syndrome 5.", "acronym": "BRGDA5.", "accession": "DI-02502", "synonyms": null, "cross_references": "MeSH; D053840.", "definition": "A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset. ", "keywords": "KW-0992:Brugada syndrome.; " }, { "identifier": "Brugada syndrome 4.", "acronym": "BRGDA4.", "accession": "DI-00205", "synonyms": null, "cross_references": "MeSH; D053840.", "definition": "A heart disease characterized by the association of Brugada syndrome with shortened QT intervals. Brugada syndrome is a tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset. ", "keywords": "KW-0992:Brugada syndrome.; " }, { "identifier": "Brugada syndrome 3.", "acronym": "BRGDA3.", "accession": "DI-00204", "synonyms": null, "cross_references": "MeSH; D053840.", "definition": "A heart disease characterized by the association of Brugada syndrome with shortened QT intervals. Brugada syndrome is a tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset. ", "keywords": "KW-0992:Brugada syndrome.; " }, { "identifier": "Brugada syndrome 2.", "acronym": "BRGDA2.", "accession": "DI-00203", "synonyms": null, "cross_references": "MeSH; D053840.", "definition": "A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset. ", "keywords": "KW-0992:Brugada syndrome.; " }, { "identifier": "Brugada syndrome 1.", "acronym": "BRGDA1.", "accession": "DI-00202", "synonyms": null, "cross_references": "MeSH; D053840.", "definition": "A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset. ", "keywords": "KW-0992:Brugada syndrome.; " }, { "identifier": "Bruck syndrome 2.", "acronym": "BRKS2.", "accession": "DI-01299", "synonyms": "Osteogenesis imperfecta with congenital joint contractures.; ", "cross_references": "MeSH; D010009.", "definition": "An autosomal recessive disease characterized by generalized osteopenia, congenital joint contractures, fragile bones with onset of fractures in infancy or early childhood, short stature, severe limb deformity, progressive scoliosis, and pterygia. It is distinguished from osteogenesis imperfecta by the absence of hearing loss and dentinogenesis imperfecta, and by the presence of clubfoot and congenital joint limitations. ", "keywords": null }, { "identifier": "Bruck syndrome 1.", "acronym": "BRKS1.", "accession": "DI-03760", "synonyms": "Arthrogryposis-like disorder.; Kuskokwim disease.; ", "cross_references": "MeSH; D010009.", "definition": "A disease characterized by generalized osteopenia, congenital joint contractures, fragile bones with onset of fractures in infancy or early childhood, short stature, severe limb deformity, progressive scoliosis, and pterygia. ", "keywords": null }, { "identifier": "Brown-Vialetto-Van Laere syndrome 2.", "acronym": "BVVLS2.", "accession": "DI-03494", "synonyms": "Riboflavin transporter deficiency, type 2.; RTD2.; ", "cross_references": "MeSH; D010244.", "definition": "An autosomal recessive progressive neurologic disorder characterized by early childhood onset of sensorineural deafness, bulbar dysfunction, and severe diffuse muscle weakness and wasting resulting in respiratory insufficiency and loss of independent ambulation. Because it results from a defect in riboflavin metabolism, some patients may benefit from high-dose riboflavin supplementation. ", "keywords": "KW-0209:Deafness.; " }, { "identifier": "Brown-Vialetto-Van Laere syndrome 1.", "acronym": "BVVLS1.", "accession": "DI-02727", "synonyms": "Bulbar palsy progressive with sensorineural deafness.; Pontobulbar palsy with deafness.; ", "cross_references": "MeSH; D010244.", "definition": "A rare neurologic disorder characterized by sensorineural hearing loss and a variety of cranial nerve palsies, which develop over a relatively short period of time in a previously healthy individual. Sensorineural hearing loss may precede the neurological signs. The course is invariably progressive, but the rate of decline is variable within and between families. With disease evolution, long tract signs, lower motor neuron signs, cerebellar ataxia and lower cranial nerve (III-VI) palsies develop, giving rise to a complex picture resembling amyotrophic lateral sclerosis. Diaphragmatic weakness and respiratory compromise are some of the most distressing features, leading to recurrent chest infections and respiratory failure, which are often the cause of patients' demise. ", "keywords": "KW-0209:Deafness.; " }, { "identifier": "Brooke-Spiegler syndrome.", "acronym": "BRSS.", "accession": "DI-00201", "synonyms": "BSS.; SBS.; Spiegler-Brooke syndrome.; ", "cross_references": "MeSH; D018280.", "definition": "An autosomal dominant disorder characterized by the appearance of multiple skin appendage tumors such as cylindroma, trichoepithelioma, and spiradenoma. These tumors are typically located in the head and neck region, appear in early adulthood, and gradually increase in size and number throughout life. ", "keywords": null }, { "identifier": "Bronchiectasis with or without elevated sweat chloride 3.", "acronym": "BESC3.", "accession": "DI-02488", "synonyms": "Cystic fibrosis-like syndrome.; ", "cross_references": "MeSH; D001987.", "definition": "A debilitating respiratory disease characterized by chronic, abnormal dilatation of the bronchi and other cystic fibrosis-like symptoms in the absence of known causes of bronchiectasis (cystic fibrosis, autoimmune diseases, ciliary dyskinesia, common variable immunodeficiency, foreign body obstruction). Clinical features include sub-normal lung function, sinopulmonary infections, chronic productive cough, excessive sputum production, and elevated sweat chloride in some cases. ", "keywords": null }, { "identifier": "Bronchiectasis with or without elevated sweat chloride 2.", "acronym": "BESC2.", "accession": "DI-02475", "synonyms": "Cystic fibrosis-like syndrome.; ", "cross_references": "MeSH; D001987.", "definition": "A debilitating respiratory disease characterized by chronic, abnormal dilatation of the bronchi and other cystic fibrosis-like symptoms in the absence of known causes of bronchiectasis (cystic fibrosis, autoimmune diseases, ciliary dyskinesia, common variable immunodeficiency, foreign body obstruction). Clinical features include sub-normal lung function, sinopulmonary infections, chronic productive cough, excessive sputum production, and elevated sweat chloride in some cases. ", "keywords": null }, { "identifier": "Bronchiectasis with or without elevated sweat chloride 1.", "acronym": "BESC1.", "accession": "DI-02489", "synonyms": "Cystic fibrosis-like syndrome.; ", "cross_references": "MeSH; D001987.", "definition": "A debilitating respiratory disease characterized by chronic, abnormal dilatation of the bronchi and other cystic fibrosis-like symptoms in the absence of known causes of bronchiectasis (cystic fibrosis, autoimmune diseases, ciliary dyskinesia, common variable immunodeficiency, foreign body obstruction). Clinical features include sub-normal lung function, sinopulmonary infections, chronic productive cough, excessive sputum production, and elevated sweat chloride in some cases. ", "keywords": null } ] }