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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=920&ordering=-synonyms",
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"results": [
{
"identifier": "Cataracts, spastic paraparesis, and speech delay.",
"acronym": "CSPSD.",
"accession": "DI-06115",
"synonyms": null,
"cross_references": "MeSH; D009461.",
"definition": "An autosomal dominant disease characterized by bilateral cataracts apparent at birth or in infancy, spastic paraparesis, truncal hypotonia, delayed psychomotor development, and speech delay. ",
"keywords": "KW-0898:Cataract.; "
},
{
"identifier": "Atrioventricular septal defect 2.",
"acronym": "AVSD2.",
"accession": "DI-01195",
"synonyms": null,
"cross_references": "MeSH; D004694.",
"definition": "A congenital heart malformation characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. The complete form involves underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum; the valve itself is also shared. A less severe form, known as ostium primum atrial septal defect, is characterized by separate atrioventricular valvar orifices despite a common junction. ",
"keywords": null
},
{
"identifier": "Atrioventricular septal defect 4.",
"acronym": "AVSD4.",
"accession": "DI-03332",
"synonyms": null,
"cross_references": "MeSH; D004694.",
"definition": "A congenital heart malformation characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. The complete form involves underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum; the valve itself is also shared. A less severe form, known as ostium primum atrial septal defect, is characterized by separate atrioventricular valvar orifices despite a common junction. ",
"keywords": null
},
{
"identifier": "Caudal duplication anomaly.",
"acronym": "CADUA.",
"accession": "DI-02877",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "A condition characterized by the occurrence of duplications of different organs in the caudal region. ",
"keywords": null
},
{
"identifier": "Cavitary optic disc anomalies.",
"acronym": "CODA.",
"accession": "DI-04537",
"synonyms": null,
"cross_references": "MeSH; D015785.",
"definition": "An ocular disease characterized by a profound excavation of the optic nerve. Clinical phenotype is variable and includes congenitally excavated optic nerves as well as other features of optic pit, optic nerve coloboma, and morning glory disk anomaly. Patients with CODA have a strong predilection for retinal detachment and/or separation of the retinal layers (retinoschisis) that lead to profound central vision loss. ",
"keywords": null
},
{
"identifier": "Atrioventricular septal defect 5.",
"acronym": "AVSD5.",
"accession": "DI-03369",
"synonyms": null,
"cross_references": "MeSH; D004694.",
"definition": "A congenital heart malformation characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. The complete form involves underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum; the valve itself is also shared. A less severe form, known as ostium primum atrial septal defect, is characterized by separate atrioventricular valvar orifices despite a common junction. ",
"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
},
{
"identifier": "Deafness, autosomal recessive, 104.",
"acronym": "DFNB104.",
"accession": "DI-04500",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"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": "Combined oxidative phosphorylation deficiency 36.",
"acronym": "COXPD36.",
"accession": "DI-05238",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive, multisystem disease resulting from deficiencies of mitochondrial respiratory enzyme complexes and mitochondrial dysfunction. Clinical manifestations include sensorineural hearing impairment, mild developmental delay, hypoglycemia, and intellectual disability. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"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": "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": "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": "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": "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": "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": "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": "Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2.",
"acronym": "CAMRQ2.",
"accession": "DI-03450",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive, congenital cerebellar ataxia associated with cerebellar hypoplasia, intellectual disability, and inability to walk bipedally, resulting in quadrupedal locomotion as a functional adaptation. Additional findings include generalized brain atrophy and mild hypoplasia of the corpus callosum. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3.",
"acronym": "CAMRQ3.",
"accession": "DI-02743",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive, congenital cerebellar ataxia associated with dysarthia, quadrupedal gait and intellectual disability. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Encephalopathy, porphyria-related.",
"acronym": "ENCEP.",
"accession": "DI-06842",
"synonyms": null,
"cross_references": "MeSH; D001927.",
"definition": "An autosomal recessive disorder characterized by rapidly progressive neurologic abnormalities apparent in early infancy. Clinical features include global developmental delay, impaired intellectual development, hypotonia, ataxia, dysarthria, spasticity, ocular abnormalities, and peripheral neuropathy. Laboratory studies show increased plasma and urinary levels of porphyrin precursors. Death in childhood may occur. ",
"keywords": null
}
]
}