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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3740&ordering=synonyms",
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"results": [
{
"identifier": "Long QT syndrome 13.",
"acronym": "LQT13.",
"accession": "DI-02771",
"synonyms": null,
"cross_references": "MeSH; D008133.",
"definition": "A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. ",
"keywords": "KW-0454:Long QT syndrome.; "
},
{
"identifier": "Lethal congenital contracture syndrome 11.",
"acronym": "LCCS11.",
"accession": "DI-04874",
"synonyms": null,
"cross_references": "MeSH; D001176.",
"definition": "A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non- progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. ",
"keywords": null
},
{
"identifier": "Lethal congenital contracture syndrome 10.",
"acronym": "LCCS10.",
"accession": "DI-04766",
"synonyms": null,
"cross_references": "MeSH; D001176.",
"definition": "A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non- progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. ",
"keywords": null
},
{
"identifier": "Cerebellar ataxia, brain abnormalities, and cardiac conduction defects.",
"acronym": "CABAC.",
"accession": "DI-06242",
"synonyms": null,
"cross_references": "MeSH; D009461.",
"definition": "An autosomal recessive disorder characterized by global developmental delay, impaired intellectual development and speech delay that are observed in most patients. Disease manifestations are variable and include infantile-onset hypotonia, poor motor development, poor feeding and overall growth, and ataxic gait due to cerebellar ataxia. Additional variable features are dysarthria, nystagmus, variable ocular anomalies, spasticity, hyperreflexia, and non-specific dysmorphic features. Brain imaging shows cerebellar hypoplasia, often with brainstem hypoplasia, enlarged ventricles, delayed myelination, and thin corpus callosum. A significant number of patients develop cardiac conduction defects in childhood or adolescence. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Lessel-Kubisch syndrome.",
"acronym": "LSKB.",
"accession": "DI-05687",
"synonyms": null,
"cross_references": "MeSH; D019588.",
"definition": "An autosomal recessive progeroid syndrome characterized by short stature, pinched facial features, prematurely gray hair, scleroderma- like skin changes, small kidneys and consecutive kidney failure, followed by severe arterial hypertension. ",
"keywords": null
},
{
"identifier": "Lessel-Kreienkamp syndrome.",
"acronym": "LESKRES.",
"accession": "DI-06006",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by global developmental delay, intellectual disability of variable degree, and speech and language delay apparent from infancy or early childhood. Behavioral disorders are observed in most patients. Additional variable features include seizures, hypotonia, gait abnormalities, visual and cardiac defects, and non-specific facial dysmorphism. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Lesch-Nyhan syndrome.",
"acronym": "LNS.",
"accession": "DI-01892",
"synonyms": null,
"cross_references": "MedGen; C1845893.",
"definition": "Characterized by complete lack of enzymatic activity that results in hyperuricemia, choreoathetosis, intellectual disability, and compulsive self-mutilation. ",
"keywords": null
},
{
"identifier": "Leri-Weill dyschondrosteosis.",
"acronym": "LWD.",
"accession": "DI-01891",
"synonyms": null,
"cross_references": "MedGen; CN031459.",
"definition": "Dominantly inherited skeletal dysplasia characterized by moderate short stature predominantly because of short mesomelic limb segments. It is often associated with the Madelung deformity of the wrist, comprising bowing of the radius and dorsal dislocation of the distal ulna. ",
"keywords": null
},
{
"identifier": "LEOPARD syndrome 3.",
"acronym": "LPRD3.",
"accession": "DI-02991",
"synonyms": null,
"cross_references": "MeSH; D044542.",
"definition": "A disorder characterized by lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and sensorineural deafness. ",
"keywords": "KW-0209:Deafness.; "
},
{
"identifier": "Central hypoventilation syndrome, congenital, 3.",
"acronym": "CCHS3.",
"accession": "DI-06215",
"synonyms": null,
"cross_references": "MeSH; D007040.",
"definition": "A form of congenital central hypoventilation syndrome, a rare disorder characterized by abnormal control of respiration in the absence of neuromuscular, lung or cardiac disease, or an identifiable brainstem lesion. CCHS3 is an autosomal recessive, neonatal form characterized by slow and shallow breathing due to a deficiency in autonomic control of respiration. Affected individuals present with respiratory insufficiency and absence of the hypercapnic reflex that stimulates breathing. Additional features include gastrointestinal problems, poor heat tolerance and paroxysmal hypertension. ",
"keywords": null
},
{
"identifier": "Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction.",
"acronym": "CCHS2.",
"accession": "DI-06200",
"synonyms": null,
"cross_references": "MeSH; D007040.",
"definition": "An autosomal recessive form of congenital central hypoventilation syndrome, a rare disorder characterized by abnormal control of respiration in the absence of neuromuscular, lung or cardiac disease, or an identifiable brainstem lesion. CCHS2 is characterized by shallow breathing and apneic spells apparent in the neonatal period. Some patients have other features of autonomic dysfunction, including bladder dysfunction, sinus bradycardia, and temperature dysregulation. ",
"keywords": null
},
{
"identifier": "Cardiomyopathy, dilated, 1V.",
"acronym": "CMD1V.",
"accession": "DI-02968",
"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.; "
},
{
"identifier": "Auditory neuropathy and optic atrophy.",
"acronym": "ANOA.",
"accession": "DI-05116",
"synonyms": null,
"cross_references": "MeSH; D034381.",
"definition": "An autosomal recessive disease characterized by hearing loss, visual impairment and optic atrophy, with onset in the first or second decades of life. Optic atrophy is caused by degeneration of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. ",
"keywords": "KW-0209:Deafness.; KW-0622:Neuropathy.; "
},
{
"identifier": "LEOPARD syndrome 2.",
"acronym": "LPRD2.",
"accession": "DI-01889",
"synonyms": null,
"cross_references": "MeSH; D044542.",
"definition": "A disorder characterized by lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and sensorineural deafness. ",
"keywords": "KW-0209:Deafness.; "
},
{
"identifier": "LEOPARD syndrome 1.",
"acronym": "LPRD1.",
"accession": "DI-01888",
"synonyms": null,
"cross_references": "MeSH; D044542.",
"definition": "A disorder characterized by lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and sensorineural deafness. ",
"keywords": "KW-0209:Deafness.; "
},
{
"identifier": "Left-right axis malformations.",
"acronym": "LRAM.",
"accession": "DI-01883",
"synonyms": null,
"cross_references": "MedGen; C1866091.",
"definition": "The defect includes left pulmonary isomerism, with cardiac anomalies characterized by complete atrioventricular canal defect and hypoplastic left ventricle, and interrupted inferior vena cava. ",
"keywords": "KW-1056:Heterotaxy.; "
},
{
"identifier": "Attention deficit-hyperactivity disorder 8.",
"acronym": "ADHD8.",
"accession": "DI-06470",
"synonyms": null,
"cross_references": "MeSH; D001289.",
"definition": "A form of attention deficit-hyperactivity disorder, a neurobehavioral developmental condition primarily characterized by the coexistence of attentional problems and hyperactivity, with each feature occurring infrequently alone. ADHD8 is an autosomal recessive form with onset in early childhood, usually by age 3 years. ADHD8 patients may manifest mild developmental delay with autism. ",
"keywords": null
},
{
"identifier": "Left ventricular non-compaction 5.",
"acronym": "LVNC5.",
"accession": "DI-05185",
"synonyms": null,
"cross_references": "MeSH; D056830.",
"definition": "A form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC5 is an autosomal dominant condition. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Ventriculomegaly with cystic kidney disease.",
"acronym": "VMCKD.",
"accession": "DI-04346",
"synonyms": null,
"cross_references": "MeSH; D052177.",
"definition": "A severe autosomal recessive developmental disorder manifesting in utero. It is characterized by cerebral ventriculomegaly, echogenic kidneys, microscopic renal tubular cysts and findings of congenital nephrosis. ",
"keywords": null
},
{
"identifier": "Attention deficit-hyperactivity disorder 7.",
"acronym": "ADHD7.",
"accession": "DI-02574",
"synonyms": null,
"cross_references": "MeSH; D001289.",
"definition": "A neurobehavioral developmental disorder primarily characterized by the coexistence of attentional problems and hyperactivity, with each behavior occurring infrequently alone. ",
"keywords": null
}
]
}