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"count": 6723,
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"results": [
{
"identifier": "Syndactyly 5.",
"acronym": "SDTY5.",
"accession": "DI-02354",
"synonyms": "Syndactyly type V.; Syndactyly with metacarpal and metatarsal fusion.; ",
"cross_references": "MeSH; D013576.",
"definition": "A form of syndactyly, a congenital anomaly of the hand or foot marked by persistence of the webbing between adjacent digits that are more or less completely attached. The characteristic finding in SDTY5 is the presence of an associated metacarpal and metatarsal fusion. The metacarpals and metatarsals most commonly fused are the 4th and 5th or the 3rd and 4th. Soft tissue syndactyly usually affects the 3rd and 4th fingers and the 2nd and 3rd toes. ",
"keywords": null
},
{
"identifier": "Syndactyly 4.",
"acronym": "SDTY4.",
"accession": "DI-02353",
"synonyms": "Haas type syndactyly.; Polysyndactyly Haas type.; SD4.; Syndactyly type IV.; ",
"cross_references": "MeSH; D013576.",
"definition": "A form of syndactyly, a congenital anomaly of the hand or foot marked by persistence of the webbing between adjacent digits that are more or less completely attached. SDTY4 is characterized by complete bilateral syndactyly (involving all digits 1 to 5). A frequent association with polydactyly (with six metacarpals and six digits) has been reported. Feet are affected occasionally. ",
"keywords": null
},
{
"identifier": "Syndactyly 3.",
"acronym": "SDTY3.",
"accession": "DI-02352",
"synonyms": "Ring and little finger syndactyly.; Syndactyly of fingers IV and V.; Syndactyly type III.; ",
"cross_references": "MeSH; D013576.",
"definition": "A form of syndactyly, a congenital anomaly of the hand or foot marked by persistence of the webbing between adjacent digits that are more or less completely attached. In SDTY3, there is usually complete and bilateral syndactyly between the fourth and fifth fingers. Usually it is soft tissue syndactyly but occasionally the distal phalanges are fused. The fifth finger is short with absent or rudimentary middle phalanx. The feet are not affected. ",
"keywords": null
},
{
"identifier": "Symptomatic deficiency in lactate transport.",
"acronym": "SDLT.",
"accession": "DI-02351",
"synonyms": "Erythrocyte lactate transporter defect.; ",
"cross_references": "MedGen; C1855577.",
"definition": "Deficiency of lactate transporter may result in an acidic intracellular environment created by muscle activity with consequent degeneration of muscle and release of myoglobin and creatine kinase. This defect might compromise extreme performance in otherwise healthy individuals. ",
"keywords": null
},
{
"identifier": "Symphalangism, proximal 1B.",
"acronym": "SYM1B.",
"accession": "DI-03804",
"synonyms": null,
"cross_references": "MeSH; D007592.",
"definition": "A disease characterized by the hereditary absence of the proximal interphalangeal joints. Distal interphalangeal joints are less frequently involved and metacarpophalangeal joints are rarely affected whereas carpal bone malformation and fusion are common. In the lower extremities, tarsal bone coalition is common. Conductive hearing loss is seen and is due to fusion of the stapes to the petrous part of the temporal bone. ",
"keywords": null
},
{
"identifier": "Symphalangism, proximal 1A.",
"acronym": "SYM1A.",
"accession": "DI-02350",
"synonyms": "Cushing symphalangism.; Hereditary absence of the proximal interphalangeal joints.; SYM1.; ",
"cross_references": "MeSH; D007592.",
"definition": "A disease characterized by the hereditary absence of the proximal interphalangeal joints. Distal interphalangeal joints are less frequently involved and metacarpophalangeal joints are rarely affected whereas carpal bone malformation and fusion are common. In the lower extremities, tarsal bone coalition is common. Conductive hearing loss is seen and is due to fusion of the stapes to the petrous part of the temporal bone. ",
"keywords": null
},
{
"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
},
{
"identifier": "Sveinsson chorioretinal atrophy.",
"acronym": "SCRA.",
"accession": "DI-02349",
"synonyms": "AA.; Atrophia areata.; Helicoidal peripapillary chorioretinal degeneration.; HPCD.; ",
"cross_references": "MedGen; C1862382.",
"definition": "Characterized by symmetrical lesions radiating from the optic disk involving the retina and the choroid. ",
"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": "Sulfite oxidase deficiency, isolated.",
"acronym": "ISOD.",
"accession": "DI-01843",
"synonyms": "Sulfocysteinuria.; ",
"cross_references": "MeSH; D020739.",
"definition": "A life-threatening, autosomal recessive neurometabolic disorder characterized by severe neurological impairment. Classic ISOD manifests in the first few hours to days of life and is characterized by intractable seizures, feeding difficulties, rapidly progressive encephalopathy, microcephaly, and profound intellectual disability. Children usually die during the first few months of life. Mild ISOD manifests in infancy or early childhood and is characterized by ectopia lentis that is variably present, developmental delay and regression, movement disorder characterized by dystonia and choreoathetosis, ataxia, and rarely acute hemiplegia due to metabolic stroke. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"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": "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": "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": "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 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 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 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": "Succinyl-CoA:3-oxoacid CoA transferase deficiency.",
"acronym": "SCOTD.",
"accession": "DI-01863",
"synonyms": "Ketoacidosis due to SCOT deficiency.; SCOT deficiency.; Succinyl-CoA:3-ketoacid CoA-transferase deficiency.; Succinyl-CoA:3-ketoacid-CoA transferase deficiency.; Succinyl-CoA:acetoacetate transferase deficiency.; Succinyl-CoA-3-ketoacid-CoA transferase deficiency.; ",
"cross_references": "MeSH; D007662.",
"definition": "A disorder of ketone body metabolism, characterized by episodic ketoacidosis. Patients are usually asymptomatic between episodes. ",
"keywords": null
},
{
"identifier": "Succinic semialdehyde dehydrogenase deficiency.",
"acronym": "SSADHD.",
"accession": "DI-02345",
"synonyms": "4-hydroxybutyric aciduria.; GABA metabolic defect.; Gamma-hydroxybutyric aciduria.; SSADH deficiency.; Succinate semialdehyde dehydrogenase deficiency.; ",
"cross_references": "MeSH; D000592.",
"definition": "A rare inborn error of 4-aminobutyric acid (GABA) metabolism, which leads to accumulation of 4-hydroxybutyric acid in physiologic fluids of patients. The disease is clinically characterized by developmental delay, hypotonia, intellectual disability, ataxia, seizures, hyperkinetic behavior, aggression, and sleep disturbances. ",
"keywords": null
},
{
"identifier": "Subcortical band heterotopia X-linked.",
"acronym": "SBHX.",
"accession": "DI-01095",
"synonyms": "Double cortex.; SCLH.; Subcortical laminar heterotopia.; ",
"cross_references": "MeSH; D054221.",
"definition": "SBHX is a mild brain malformation of the lissencephaly spectrum. It is characterized by bilateral and symmetric plates or bands of gray matter found in the central white matter between the cortex and cerebral ventricles, cerebral convolutions usually appearing normal. ",
"keywords": "KW-0451:Lissencephaly.; "
}
]
}