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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4740&ordering=synonyms",
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"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": "Hyperphenylalaninemia, mild, non-BH4-deficient.",
"acronym": "HPANBH4.",
"accession": "DI-04966",
"synonyms": null,
"cross_references": "MeSH; D000592.",
"definition": "An autosomal recessive disorder characterized by increased serum phenylalanine, normal BH4 metabolism, and highly variable neurologic defects, including movement abnormalities and intellectual disability. ",
"keywords": null
},
{
"identifier": "Congenital myopathy 22B, severe fetal.",
"acronym": "CMYP22B.",
"accession": "DI-06673",
"synonyms": null,
"cross_references": "MeSH; D020914.",
"definition": "A severe congenital myopathy, a clinically and genetically heterogeneous group of muscle disorders characterized by hypotonia and muscle weakness apparent at birth, and specific pathological features on muscle biopsy. CMYP22B is an autosomal recessive form characterized by onset in utero. Affected individuals show fetal akinesia, and develop fetal hydrops with pulmonary hypoplasia, severe joint contractures, and generalized muscle hypoplasia. Death occurs in utero or soon after birth. ",
"keywords": null
},
{
"identifier": "Hyperphenylalaninemia.",
"acronym": "HPA.",
"accession": "DI-01781",
"synonyms": null,
"cross_references": "MedGen; C2678416.",
"definition": "Mildest form of phenylalanine hydroxylase deficiency. ",
"keywords": null
},
{
"identifier": "Congenital myopathy 22A, classic.",
"acronym": "CMYP22A.",
"accession": "DI-06672",
"synonyms": null,
"cross_references": "MeSH; D020914.",
"definition": "A form of congenital myopathy, a clinically and genetically heterogeneous group of muscle disorders characterized by hypotonia and muscle weakness apparent at birth, and specific pathological features on muscle biopsy. CMYP22A is an autosomal recessive form characterized by fetal hypokinesia, polyhydramnios, and severe neonatal hypotonia associated with respiratory insufficiency. Affected individuals who survive the neonatal period have delayed motor development, difficulty walking, proximal muscle weakness of the upper and lower limbs, facial and neck muscle weakness, easy fatigability, and mild limb contractures or foot deformities. ",
"keywords": null
},
{
"identifier": "Hyperparathyroidism, transient neonatal.",
"acronym": "HRPTTN.",
"accession": "DI-05388",
"synonyms": null,
"cross_references": "MeSH; D006961.",
"definition": "An autosomal recessive disease characterized by impaired transplacental maternal-fetal transport of calcium, high serum PTH levels and signs of metabolic bone disease in the neonatal period. Skeletal anomalies include generalized osteopenia, narrow chest, short ribs with multiple healing fractures, and bowing or fractures of long bones. Affected individuals experience postnatal respiratory and feeding difficulties. The condition improves within a short time after birth once calcium is provided orally. ",
"keywords": null
},
{
"identifier": "Congenital myopathy 21 with early respiratory failure.",
"acronym": "CMYP21.",
"accession": "DI-06656",
"synonyms": null,
"cross_references": "MeSH; D020914.",
"definition": "An autosomal recessive muscle disorder characterized by diaphragmatic weakness, respiratory impairment, and spinal rigidity. Disease onset ranges from early childhood to adulthood and severity is variable. Death from respiratory failure may occur in severe cases. Some affected individuals may show developmental delay and hypertrophic cardiomyopathy. ",
"keywords": null
},
{
"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": "Hyperparathyroidism 4.",
"acronym": "HRPT4.",
"accession": "DI-04951",
"synonyms": null,
"cross_references": "MeSH; D049950.",
"definition": "A form of familial primary hyperparathyroidism, a hypercalcemic disorder caused by inappropriate oversecretion of parathyroid hormone due to parathyroid hyperplasia or neoplasms. Clinical features include hypercalcemia, phosphaturia, and increased bone resorption. HRPT4 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Congenital myopathy 20.",
"acronym": "CMYP20.",
"accession": "DI-06640",
"synonyms": null,
"cross_references": "MeSH; D020914.",
"definition": "An autosomal recessive neuromuscular disorder characterized by variable manifestations. Some patients have congenital limb or distal contractures manifesting soon after birth, while others develop muscle weakness with difficulty running and climbing stairs in early childhood. Additional features may include facial dysmorphism, and delayed development with intellectual disability. Skeletal muscle biopsy may show variation in fiber size with type 1 fiber predominance and atrophy, hypertrophic type 2 fibers, and abundant nemaline bodies. ",
"keywords": null
},
{
"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": "Hyperostosis cranialis interna.",
"acronym": "HCIN.",
"accession": "DI-05257",
"synonyms": null,
"cross_references": "MeSH; D015576.",
"definition": "An autosomal dominant bone disorder characterized by endosteal hyperostosis and osteosclerosis of the calvaria and the skull base. The progressive bone overgrowth causes entrapment and dysfunction of cranial nerves I, II, V, VII, and VIII, its first symptoms often presenting during the second decade of life. ",
"keywords": null
},
{
"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": "Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency.",
"acronym": "HMAHCHD.",
"accession": "DI-01774",
"synonyms": null,
"cross_references": "MeSH; D000592.",
"definition": "A metabolic disorder characterized by hypermethioninemia associated with failure to thrive, mental and motor retardation, facial dysmorphism with abnormal hair and teeth, and myocardiopathy. ",
"keywords": null
},
{
"identifier": "Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2.",
"acronym": "HUMOP2.",
"accession": "DI-06541",
"synonyms": null,
"cross_references": "MeSH; D008659.",
"definition": "A disorder apparent in infancy and characterized by euthyroid hypermetabolism, failure to thrive despite excessive caloric intake, intermittent hyperthermia, and developmental delay. ",
"keywords": null
},
{
"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": "Hypermanganesemia with dystonia 2.",
"acronym": "HMNDYT2.",
"accession": "DI-04753",
"synonyms": null,
"cross_references": "MeSH; D008659.",
"definition": "A metabolic autosomal recessive disorder characterized by increased blood manganese levels, neurodegeneration, and rapidly progressive parkinsonism and dystonia. Affected individuals present with loss of developmental milestones, progressive dystonia and bulbar dysfunction in infancy or early childhood. Towards the end of the first decade, they manifest severe generalized pharmacoresistant dystonia, spasticity, limb contractures and scoliosis, and loss of independent ambulation. Cognition may be impaired, but is better preserved than motor function. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0908:Parkinsonism.; KW-1023:Dystonia.; "
},
{
"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": "Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities.",
"acronym": "ARCME.",
"accession": "DI-06765",
"synonyms": null,
"cross_references": "MeSH; D009202.",
"definition": "An autosomal recessive disorder characterized by life-threatening dilated cardiomyopathy in early childhood, with or without features of inflammation on cardiac histology. There is also a variably expressed ectodermal phenotype, including wooly or wiry hair, wedged teeth, xerotic skin, and dystrophic nails. Cleft lip and palate and corneal abnormalities have also been observed. ",
"keywords": "KW-0038:Ectodermal dysplasia.; KW-0122:Cardiomyopathy.; "
}
]
}