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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3720&ordering=synonyms",
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"results": [
{
"identifier": "Leukemia, acute lymphoblastic, 3.",
"acronym": "ALL3.",
"accession": "DI-03959",
"synonyms": null,
"cross_references": "MeSH; D054198.",
"definition": "A subtype of acute leukemia, a cancer of the white blood cells. Acute lymphoblastic anemia is a malignant disease of bone marrow and the most common malignancy diagnosed in children. The malignant cells are lymphoid precursor cells (lymphoblasts) that are arrested in an early stage of development. The lymphoblasts replace the normal marrow elements, resulting in a marked decrease in the production of normal blood cells. Consequently, anemia, thrombocytopenia, and neutropenia occur to varying degrees. The lymphoblasts also proliferate in organs other than the marrow, particularly the liver, spleen, and lymphnodes. ",
"keywords": null
},
{
"identifier": "Lethal congenital contracture syndrome 9.",
"acronym": "LCCS9.",
"accession": "DI-04504",
"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 8.",
"acronym": "LCCS8.",
"accession": "DI-04380",
"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. LCCS8 is an axoglial form of arthrogryposis multiplex congenita, characterized by congenital distal joint contractures, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period. ",
"keywords": null
},
{
"identifier": "Lethal congenital contracture syndrome 7.",
"acronym": "LCCS7.",
"accession": "DI-04378",
"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. LCCS7 is a severe axoglial disease characterized by congenital distal joint contractures, polyhydramnios, reduced fetal movements, and motor paralysis leading to death early in the neonatal period. ",
"keywords": null
},
{
"identifier": "Lethal congenital contracture syndrome 6.",
"acronym": "LCCS6.",
"accession": "DI-04327",
"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. LCCS6 features include severe polyhydramnios and absent stomach, in addition to multiple contracture deformities. ",
"keywords": null
},
{
"identifier": "Developmental and epileptic encephalopathy 31B.",
"acronym": "DEE31B.",
"accession": "DI-06666",
"synonyms": null,
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE31B is an autosomal recessive form with onset in the first months of life. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant.",
"acronym": "ADCADN.",
"accession": "DI-03793",
"synonyms": null,
"cross_references": "MeSH; D009290.",
"definition": "An autosomal dominant neurologic disorder characterized by adult onset of progressive cerebellar ataxia, narcolepsy, cataplexy, sensorineural deafness, and dementia. More variable features include optic atrophy, sensory neuropathy, psychosis, and depression. ",
"keywords": "KW-0209:Deafness.; "
},
{
"identifier": "Cerebellar ataxia, cayman type.",
"acronym": "ATCAY.",
"accession": "DI-01333",
"synonyms": null,
"cross_references": "MedGen; C1832585.",
"definition": "Found in a population isolate on Grand Cayman Island and causes a marked psychomotor retardation and prominent nonprogressive cerebellar dysfunction including nystagmus, intention tremor, dysarthria, and wide-based ataxic gait. Hypotonia is present from early childhood. ",
"keywords": null
},
{
"identifier": "Lethal congenital contracture syndrome 4.",
"acronym": "LCCS4.",
"accession": "DI-03609",
"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": "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
}
]
}