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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6340&ordering=synonyms",
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"results": [
{
"identifier": "Progressive symmetric erythrokeratodermia.",
"acronym": "PSEK.",
"accession": "DI-02216",
"synonyms": null,
"cross_references": "MIM; 133200; phenotype.",
"definition": "Erythrokeratodermas are a group of disorders characterized by widespread erythematous plaques, either stationary or migratory, associated with features that include palmoplantar keratoderma. PSEK is characterized by erythematous and hyperkeratotic plaques. ",
"keywords": null
},
{
"identifier": "Sturge-Weber syndrome.",
"acronym": "SWS.",
"accession": "DI-03787",
"synonyms": null,
"cross_references": "MeSH; D013341.",
"definition": "A syndrome characterized by an intracranial vascular anomaly, leptomeningeal angiomatosis, most often involving the occipital and posterior parietal lobes. The most common features are facial cutaneous vascular malformations (port-wine stains), seizures, and glaucoma. Stasis results in ischemia underlying the leptomeningeal angiomatosis, leading to calcification and laminar cortical necrosis. The clinical course is highly variable and some children experience intractable seizures, intellectual disability, and recurrent stroke- like episodes. ",
"keywords": null
},
{
"identifier": "Progressive osseous heteroplasia.",
"acronym": "POH.",
"accession": "DI-02212",
"synonyms": null,
"cross_references": "MedGen; CN034473.",
"definition": "Rare autosomal dominant disorder characterized by extensive dermal ossification during childhood, followed by disabling and widespread heterotopic ossification of skeletal muscle and deep connective tissue. ",
"keywords": null
},
{
"identifier": "Schizencephaly.",
"acronym": "SCHZC.",
"accession": "DI-02284",
"synonyms": null,
"cross_references": "MedGen; C0266484.",
"definition": "Extremely rare human congenital disorder characterized by a full- thickness cleft within the cerebral hemispheres. These clefts are lined with gray matter and most commonly involve the parasylvian regions. Large portions of the cerebral hemispheres may be absent and replaced by cerebro-spinal fluid. ",
"keywords": null
},
{
"identifier": "Stuve-Wiedemann syndrome 2.",
"acronym": "STWS2.",
"accession": "DI-06347",
"synonyms": null,
"cross_references": "MeSH; D054969.",
"definition": "A form of Stuve-Wiedemann syndrome, an autosomal recessive disease characterized by bowing of tubular bones and other skeletal and craniofacial abnormalities, respiratory distress, feeding difficulties, and hyperthermic episodes. Most patients do not survive past infancy. STWS2 patients manifest skeletal dysplasia and neonatal lung dysfunction with additional features such as congenital thrombocytopenia, eczematoid dermatitis, renal abnormalities, and defective acute-phase response. ",
"keywords": null
},
{
"identifier": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 6.",
"acronym": "PEOB6.",
"accession": "DI-06811",
"synonyms": null,
"cross_references": "MeSH; D017246.",
"definition": "A form of progressive external ophthalmoplegia, a mitochondrial myopathy characterized by progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged red fibers are seen on muscle biopsy. ",
"keywords": "KW-0935:Progressive external ophthalmoplegia.; "
},
{
"identifier": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2.",
"acronym": "PEOB2.",
"accession": "DI-04488",
"synonyms": null,
"cross_references": "MeSH; D017246.",
"definition": "A form of progressive external ophthalmoplegia, a mitochondrial myopathy characterized by progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. PEOB2 patients manifest exercise intolerance, muscle weakness, and signs and symptoms of spinocerebellar ataxia, such as impaired gait and dysarthria. Some patients may have respiratory insufficiency. ",
"keywords": "KW-0935:Progressive external ophthalmoplegia.; "
},
{
"identifier": "Primordial dwarfism-immunodeficiency-lipodystrophy syndrome.",
"acronym": "PDIL.",
"accession": "DI-06484",
"synonyms": null,
"cross_references": "MeSH; D008060.",
"definition": "An autosomal recessive syndrome characterized by growth failure with in utero growth retardation and severe postnatal growth restriction, severe microcephaly, absence of subcutaneous fat, and significant haematological and immune dysfunction. Patients have hypo- or agammaglobulinemia, lymphopenia, anemia, and thrombocytopenia. Most affected individuals die in early childhood from either respiratory or gastrointestinal infections. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Primary spontaneous pneumothorax.",
"acronym": "PSP.",
"accession": "DI-02208",
"synonyms": null,
"cross_references": "MedGen; C1868193.",
"definition": "Condition in which air is present in the pleural space in the absence of a precipitating event, such as trauma or lung disease. This results in secondary collapse of the lung, either partially or completely, and some degree of hypoxia. PSP is relatively common, with an incidence between 7.4-18/100'000 for men and 1.2-6/100'000 for women and a dose- dependent, increased risk among smokers. Most cases are sporadic, typically occurring in tall, thin men aged 10-30 years and generally while at rest. Familial PSP is rarer and usually is inherited as an autosomal dominant condition with reduced penetrance, although X- linked recessive and autosomal recessive inheritance have also been suggested. ",
"keywords": null
},
{
"identifier": "Sudden cardiac death.",
"acronym": "SCD.",
"accession": "DI-03218",
"synonyms": null,
"cross_references": "MeSH; D016757.",
"definition": "Unexpected rapid death due to cardiovascular collapse in a short time period, generally within one hour of initial symptoms. It is usually caused by the worsening of existing heart diseases. The sudden onset of symptoms, such as chest pain and cardiac arrhythmias, particularly ventricular tachycardia, can lead to the loss of consciousness and cardiac arrest followed by biological death. ",
"keywords": null
},
{
"identifier": "Sudden cardiac failure, alcohol-induced.",
"acronym": "SCFAI.",
"accession": "DI-04870",
"synonyms": null,
"cross_references": "MeSH; D016757.",
"definition": "An autosomal recessive disease characterized by sudden death due to unexpected cardiac arrest following ingestion of small amounts of alcohol. ",
"keywords": null
},
{
"identifier": "Sudden cardiac failure, infantile.",
"acronym": "SCFI.",
"accession": "DI-04869",
"synonyms": null,
"cross_references": "MeSH; D016757.",
"definition": "A disease characterized by sudden death within the first 2 years of life due to unexpected cardiac arrest. Some patients manifest hypertrophic cardiomyopathy, lipid accumulation in myocardium, degeneration of mitochondrial cristae, metabolic acidosis, and elevated plasma lactate levels. SCFI transmission pattern is consistent with autosomal recessive inheritance. ",
"keywords": null
},
{
"identifier": "Sudden infant death syndrome.",
"acronym": "SIDS.",
"accession": "DI-01096",
"synonyms": null,
"cross_references": "MeSH; D013398.",
"definition": "SIDS is the sudden death of an infant younger than 1 year that remains unexplained after a thorough case investigation, including performance of a complete autopsy, examination of the death scene, and review of clinical history. Pathophysiologic mechanisms for SIDS may include respiratory dysfunction, cardiac dysrhythmias, cardiorespiratory instability, and inborn errors of metabolism, but definitive pathogenic mechanisms precipitating an infant sudden death remain elusive. ",
"keywords": null
},
{
"identifier": "Sudden infant death with dysgenesis of the testes syndrome.",
"acronym": "SIDDT.",
"accession": "DI-02346",
"synonyms": null,
"cross_references": "MedGen; C1837371.",
"definition": "Autosomal recessive disorder. Affected infants appear normal at birth, develop signs of visceroautonomic dysfunction early in life, and die before 12 months of age of abrupt cardiorespiratory arrest. Features included bradycardia, hypothermia, severe gastroesophageal reflux, laryngospasm, bronchospasm, and abnormal cardiorespiratory patterns during sleep. Genotypic males with SIDDT had fetal testicular dysgenesis and ambiguous genitalia, with findings such as intraabdominal testes, dysplastic testes, deficient fetal testosterone production, fusion and rugation of the gonadal sac, and partial development of the penile shaft. Female sexual development was normal. Affected infants had an unusual staccato cry, similar to the cry of a goat. ",
"keywords": null
},
{
"identifier": "Suleiman-El-Hattab syndrome.",
"acronym": "SULEHS.",
"accession": "DI-05876",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive syndrome characterized by global developmental delay with poor expressive language, poor fine motor skills and hypotonia, microcephaly, feeding difficulties with failure to thrive, recurrent respiratory infections, cardiovascular malformations, cryptorchidism, happy demeanor, and facial dysmorphism. Distinctive facial features are excessive forehead hair, arched and thick eyebrows with synophrys, epicanthus, hypertelorism, thick eyelids with periorbital fullness, broad nasal bridge, long and smooth philtrum, thin upper lip, and low set prominent ears. ",
"keywords": null
},
{
"identifier": "Sulfide:quinone oxidoreductase deficiency.",
"acronym": "SQORD.",
"accession": "DI-06038",
"synonyms": null,
"cross_references": "MeSH; D008661.",
"definition": "An autosomal recessive disorder of hydrogen sulfide metabolism characterized by a variable phenotype. Some patients present with encephalopathy, clinical manifestations of Leigh syndrome, and may have a fatal disease course. Others are asymptomatic. Additional features may include lactic acidosis and decreased mitochondrial respiratory chain complex IV activity in tissues. ",
"keywords": null
},
{
"identifier": "Primary erythermalgia.",
"acronym": "PERYTHM.",
"accession": "DI-02201",
"synonyms": null,
"cross_references": "MedGen; C3276706.",
"definition": "Autosomal dominant disease characterized by recurrent episodes of severe pain associated with redness and warmth in the feet or hands. ",
"keywords": null
},
{
"identifier": "Supravalvular aortic stenosis.",
"acronym": "SVAS.",
"accession": "DI-02347",
"synonyms": null,
"cross_references": "MedGen; C2936909.",
"definition": "Congenital narrowing of the ascending aorta which can occur sporadically, as an autosomal dominant condition, or as one component of Williams-Beuren syndrome. ",
"keywords": null
},
{
"identifier": "Primary aldosteronism, seizures, and neurologic abnormalities.",
"acronym": "PASNA.",
"accession": "DI-03908",
"synonyms": null,
"cross_references": "MeSH; D012640.",
"definition": "A disorder characterized by hypertension, hypokalemia, and high aldosterone levels with low plasma renin activity and an elevated aldosterone/renin ratio. Other features include generalized seizures, cerebral palsy, spasticity, intellectual disability, and developmental delay. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Sweeney-Cox syndrome.",
"acronym": "SWCOS.",
"accession": "DI-05122",
"synonyms": null,
"cross_references": "MeSH; D003394.",
"definition": "An autosomal dominant syndrome characterized by facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears. ",
"keywords": null
}
]
}