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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=800&ordering=-identifier",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=760&ordering=-identifier",
"results": [
{
"identifier": "Smooth muscle dysfunction syndrome.",
"acronym": "SMDYS.",
"accession": "DI-03109",
"synonyms": "MSMDS.; Multisystemic smooth muscle dysfunction syndrome.; Mydriasis congenital with patent ductus arteriosus thoracic aortic aneurysm and vasculopathy.; ",
"cross_references": "MeSH; D015878.",
"definition": "An autosomal dominant syndrome characterized by dysfunction of smooth muscle cells throughout the body, leading to aortic and cerebrovascular disease, fixed dilated pupils, hypotonic bladder, malrotation, and hypoperistalsis of the gut and pulmonary hypertension. ",
"keywords": null
},
{
"identifier": "Smith-McCort dysplasia 2.",
"acronym": "SMC2.",
"accession": "DI-03716",
"synonyms": null,
"cross_references": "MeSH; D010009.",
"definition": "A rare autosomal recessive osteochondrodysplasia with skeletal features identical to those of Dyggve-Melchior-Clausen syndrome, but with normal intelligence and no microcephaly. It is characterized by short limbs and trunk with barrel-shaped chest. The radiographic phenotype includes platyspondyly, generalized abnormalities of the epiphyses and metaphyses, and a distinctive lacy appearance of the iliac crest. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Smith-McCort dysplasia 1.",
"acronym": "SMC1.",
"accession": "DI-01034",
"synonyms": "SMC.; Smith-McCort dysplasia.; ",
"cross_references": "MeSH; D010009.",
"definition": "A rare autosomal recessive osteochondrodysplasia with skeletal features identical to those of Dyggve-Melchior-Clausen syndrome, but with normal intelligence and no microcephaly. It is characterized by short limbs and trunk with barrel-shaped chest. The radiographic phenotype includes platyspondyly, generalized abnormalities of the epiphyses and metaphyses, and a distinctive lacy appearance of the iliac crest. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Smith-Magenis syndrome.",
"acronym": "SMS.",
"accession": "DI-02313",
"synonyms": null,
"cross_references": "MedGen; C1866927.",
"definition": "Characterized by intellectual disability associated with development and growth delays. Affected persons have characteristic behavioral abnormalities, including self-injurious behaviors and sleep disturbance, and distinct craniofacial and skeletal anomalies. ",
"keywords": null
},
{
"identifier": "Smith-Lemli-Opitz syndrome.",
"acronym": "SLOS.",
"accession": "DI-01033",
"synonyms": "RSH syndrome.; Rutledge lethal multiple congenital anomaly syndrome.; SLO syndrome.; ",
"cross_references": "MeSH; D019082.",
"definition": "An autosomal recessive frequent inborn disorder of sterol metabolism with characteristic congenital malformations and intellectual disability. Children with SLOS have elevated serum 7- dehydrocholesterol (7-DHC) levels and low serum cholesterol levels. SLOS occurs in relatively high frequency: approximately 1 in 20,000 to 30,000 births in populations of northern and central European background. Historically, a clinical distinction often was made between classic ('type I') SLOS and the more severely affected ('type II') patients. There is, in reality, a clinical and biochemical continuum from mild to severe SLOS. ",
"keywords": null
},
{
"identifier": "Smith-Kingsmore syndrome.",
"acronym": "SKS.",
"accession": "DI-04576",
"synonyms": "Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome.; MINDS syndrome.; ",
"cross_references": "MeSH; D019465.",
"definition": "An autosomal dominant syndrome characterized by intellectual disability, macrocephaly, seizures, umbilical hernia, and facial dysmorphic features. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Slowed nerve conduction velocity.",
"acronym": "SNCV.",
"accession": "DI-02311",
"synonyms": null,
"cross_references": "MedGen; C1842357.",
"definition": "Affected individuals present a reduction in nerve conduction velocities without any clinical signs of peripheral or central nervous system dysfunction. SNCV inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Skraban-Deardorff syndrome.",
"acronym": "SKDEAS.",
"accession": "DI-05071",
"synonyms": "Intellectual disability with seizures, abnormal gait, and distinctive facial features.; ",
"cross_references": "MeSH; D008607.",
"definition": "An autosomal dominant syndrome characterized by psychomotor developmental delay, intellectual disability with delayed speech, febrile and non-febrile seizures, abnormal gait, and facial dysmorphism. Facial features include a prominent maxilla and upper lip that readily reveal the upper gingiva, widely spaced teeth, and a broad nasal tip. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Skin fragility-woolly hair syndrome.",
"acronym": "SFWHS.",
"accession": "DI-01032",
"synonyms": null,
"cross_references": "MeSH; D012873.",
"definition": "An autosomal recessive genodermatosis characterized by skin fragility with blistering, focal and diffuse palmoplantar keratoderma, hyperkeratotic plaques on the trunk and limbs, and woolly hair with varying degrees of alopecia. ",
"keywords": "KW-1007:Palmoplantar keratoderma.; "
},
{
"identifier": "Skin creases, congenital symmetric circumferential, 2.",
"acronym": "CSCSC2.",
"accession": "DI-04629",
"synonyms": null,
"cross_references": "MeSH; D012868.",
"definition": "An autosomal dominant disease characterized by multiple, symmetric, circumferential rings of folded skin, affecting primarily the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features. ",
"keywords": null
},
{
"identifier": "Skin creases, congenital symmetric circumferential, 1.",
"acronym": "CSCSC1.",
"accession": "DI-04628",
"synonyms": "Circumferential skin creases, Kunze type.; Circumferential skin creases Kunze type.; CSC-KT.; Michelin tire baby syndrome.; Multiple benign ring-shaped skin creases of limbs.; Skin creases, multiple benign ring-shaped, of limbs.; ",
"cross_references": "MeSH; D012868.",
"definition": "An autosomal dominant disease characterized by multiple, symmetric, circumferential rings of folded skin, affecting primarily the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features. ",
"keywords": null
},
{
"identifier": "Skeletal dysplasia, mild, with joint laxity and advanced bone age.",
"acronym": "SDJLABA.",
"accession": "DI-05830",
"synonyms": null,
"cross_references": "MeSH; D001848.",
"definition": "An autosomal recessive disorder characterized by skeletal dysplasia, short stature, short long bones, advanced bone age, joint laxity, and facial dysmorphism. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Skeletal defects, genital hypoplasia, and impaired intellectual development.",
"acronym": "SGYMR.",
"accession": "DI-02310",
"synonyms": null,
"cross_references": "MeSH; D009139.",
"definition": "A disorder characterized by intellectual disability, craniofacial dysmorphism, microcephaly and short stature. Additional features include absence of the thumbs, hypoplasia of the radii and ulnae, additional vertebrae and ribs, retarded bone age and genital hypoplasia. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Sjoegren-Larsson syndrome.",
"acronym": "SLS.",
"accession": "DI-01031",
"synonyms": null,
"cross_references": "MeSH; D016111.",
"definition": "An autosomal recessive neurocutaneous disorder characterized by a combination of severe intellectual disability, spastic di- or tetraplegia and congenital ichthyosis. Ichthyosis is usually evident at birth with varying degrees of erythema and scaling, neurologic symptoms appear in the first or second year of life. Most patients have an IQ of less than 60. Additional clinical features include glistening white spots on the retina, seizures, short stature and speech defects. ",
"keywords": "KW-0977:Ichthyosis.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Sitosterolemia 2.",
"acronym": "STSL2.",
"accession": "DI-05695",
"synonyms": null,
"cross_references": "MeSH; D008052.",
"definition": "A form of sitosterolemia, an autosomal recessive metabolic disorder characterized by unregulated intestinal absorption of cholesterol, phytosterols and shellfish sterols, and decreased biliary excretion of dietary sterols into bile. Patients have hypercholesterolemia, very high levels of plant sterols in the plasma, and frequently develop tendon and tuberous xanthomas, accelerated atherosclerosis and premature coronary artery disease. ",
"keywords": null
},
{
"identifier": "Sitosterolemia 1.",
"acronym": "STSL1.",
"accession": "DI-02308",
"synonyms": "Phytosterolemia.; Shellfish sterolemia.; ",
"cross_references": "MeSH; D008052.",
"definition": "A form of sitosterolemia, an autosomal recessive metabolic disorder characterized by unregulated intestinal absorption of cholesterol, phytosterols and shellfish sterols, and decreased biliary excretion of dietary sterols into bile. Patients have hypercholesterolemia, very high levels of plant sterols in the plasma, and frequently develop tendon and tuberous xanthomas, accelerated atherosclerosis and premature coronary artery disease. ",
"keywords": null
},
{
"identifier": "Sinoatrial node dysfunction and deafness.",
"acronym": "SANDD.",
"accession": "DI-03562",
"synonyms": null,
"cross_references": "MeSH; D001146.",
"definition": "A disease characterized by congenital severe to profound deafness without vestibular dysfunction, associated with episodic syncope due to intermittent pronounced bradycardia. ",
"keywords": "KW-0209:Deafness.; "
},
{
"identifier": "Singleton-Merten syndrome 2.",
"acronym": "SGMRT2.",
"accession": "DI-04387",
"synonyms": null,
"cross_references": "MeSH; D030981.",
"definition": "A form of Singleton-Merten syndrome, an autosomal dominant disorder characterized by marked aortic calcification, dental anomalies, osteopenia, acro-osteolysis, and to a lesser extent glaucoma, psoriasis, muscle weakness, and joint laxity. Additional clinical manifestations include particular facial characteristics and abnormal joint and muscle ligaments. SGMRT2 is an atypical form characterized by variable expression of glaucoma, aortic calcification, and skeletal abnormalities, without dental anomalies. ",
"keywords": null
},
{
"identifier": "Singleton-Merten syndrome 1.",
"acronym": "SGMRT1.",
"accession": "DI-04386",
"synonyms": null,
"cross_references": "MeSH; D030981.",
"definition": "An autosomal dominant disorder with variable expression. Core features are marked aortic calcification, dental anomalies, osteopenia, acro- osteolysis, and to a lesser extent glaucoma, psoriasis, muscle weakness, and joint laxity. Dental anomalies include delayed eruption and immature root formation of anterior permanent teeth, early loss of permanent teeth due to short roots, acute root resorption, high caries, and aggressive alveolar bone loss. Additional clinical manifestations include particular facial characteristics and abnormal joint and muscle ligaments. ",
"keywords": null
},
{
"identifier": "Simpson-Golabi-Behmel syndrome 2.",
"acronym": "SGBS2.",
"accession": "DI-02750",
"synonyms": null,
"cross_references": "MeSH; D001848.",
"definition": "A severe variant of Simpson-Golabi-Behmel syndrome, a condition characterized by pre- and postnatal overgrowth (gigantism), facial dysmorphism and a variety of inconstant visceral and skeletal malformations. ",
"keywords": "KW-1186:Ciliopathy.; "
}
]
}