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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5920&ordering=identifier",
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"results": [
{
"identifier": "Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis.",
"acronym": "SOFT.",
"accession": "DI-03517",
"synonyms": "SOFT syndrome.; ",
"cross_references": "MeSH; D009260.",
"definition": "A syndrome characterized by severely short long bones, peculiar facies associated with paucity of hair, and nail anomalies. Growth retardation is evident on prenatal ultrasound as early as the second trimester of pregnancy, and affected individuals reach a final stature consistent with a height age of 6 years to 8 years. Relative macrocephaly is present during early childhood but head circumference is markedly low by adulthood. Psychomotor development is normal. Facial dysmorphism includes a long, triangular face with prominent nose and small ears, and affected individuals have an unusual high- pitched voice. Clinodactyly, brachydactyly, and hypoplastic distal phalanges and fingernails are present in association with postpubertal sparse and short hair. Typical skeletal findings include short and thick long bones with mild irregular metaphyseal changes, short femoral necks, and hypoplastic pelvis and sacrum. All long bones of the hand are short, with major delay of carpal ossification and cone- shaped epiphyses. Vertebral body ossification is also delayed. ",
"keywords": "KW-0242:Dwarfism.; KW-1063:Hypotrichosis.; KW-1186:Ciliopathy.; "
},
{
"identifier": "Short stature, optic nerve atrophy, and Pelger-Huet anomaly.",
"acronym": "SOPH.",
"accession": "DI-03531",
"synonyms": "SOPH syndrome.; ",
"cross_references": "MeSH; D010381.",
"definition": "An autosomal recessive syndrome characterized by severe postnatal growth retardation, facial dysmorphism with senile face, small hands and feet, normal intelligence, abnormal nuclear shape in neutrophil granulocytes (Pelger-Huet anomaly), and optic atrophy with loss of visual acuity and color vision. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Short stature with non-specific skeletal abnormalities.",
"acronym": "SNSK.",
"accession": "DI-04508",
"synonyms": null,
"cross_references": "MeSH; D004392.",
"definition": "A condition characterized by short stature, defined as a height less than 2 SD below normal, and no endocrine abnormalities. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "SHORT syndrome.",
"acronym": "SHORTS.",
"accession": "DI-03868",
"synonyms": "Partial lipodystrophy with Rieger anomaly and short stature.; Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly and teething delay.; ",
"cross_references": "MeSH; D008060.",
"definition": "A rare, multisystem disease characterized by short stature, anomalies of the anterior chamber of the eye, characteristic facial features such as triangular facies, lack of facial fat, and hypoplastic nasal alae with overhanging columella, partial lipodystrophy, hernias, hyperextensibility, and delayed dentition. The clinical phenotype can include insulin resistance, nephrocalcinosis, and hearing deficits. Developmental milestones and cognition are normal. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Shprintzen-Goldberg craniosynostosis syndrome.",
"acronym": "SGS.",
"accession": "DI-01027",
"synonyms": "Craniosynostosis with arachnodactyly and abdominal hernias.; Marfanoid craniosynostosis syndrome.; Marfanoid disorder with craniosynostosis type I.; ",
"cross_references": "MeSH; D054119.",
"definition": "A very rare syndrome characterized by a marfanoid habitus, craniosynostosis, characteristic dysmorphic facial features, skeletal and cardiovascular abnormalities, intellectual disability, developmental delay and learning disabilities. ",
"keywords": "KW-0989:Craniosynostosis.; "
},
{
"identifier": "Shukla-Vernon syndrome.",
"acronym": "SHUVER.",
"accession": "DI-05604",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An X-linked neurodevelopmental disorder manifesting in affected males with intellectual and learning disability, motor and language delay, autism spectrum disorder, attention deficit and hyperactivity disorder, and dysmorphic features. Some patients may have seizures and/or cerebellar atrophy on brain imaging. Carrier females may have mild disease manifestations. ",
"keywords": "KW-0991:Intellectual disability.; KW-1268:Autism spectrum disorder.; "
},
{
"identifier": "Shwachman-Diamond syndrome 1.",
"acronym": "SDS1.",
"accession": "DI-02303",
"synonyms": null,
"cross_references": "MeSH; D010188.",
"definition": "A form of Shwachman-Diamond syndrome, a disorder characterized by hematopoietic abnormalities, exocrine pancreatic dysfunction, and skeletal dysplasia. Intermittent or chronic neutropenia is the most common hematological manifestation, followed by anemia and thrombocytopenia. Some patients progress to bone marrow failure, myelodysplastic syndrome and malignant transformation, with acute myelogenous leukemia being the most common. Exocrine pancreatic dysfunction is generally the first presenting symptom in infancy. Short stature and metaphyseal dysplasia are the most frequent skeletal manifestations. SDS1 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Shwachman-Diamond syndrome 2.",
"acronym": "SDS2.",
"accession": "DI-05230",
"synonyms": null,
"cross_references": "MeSH; D010188.",
"definition": "A form of Shwachman-Diamond syndrome, a disorder characterized by hematopoietic abnormalities, exocrine pancreatic dysfunction, and skeletal dysplasia. Intermittent or chronic neutropenia is the most common hematological manifestation, followed by anemia and thrombocytopenia. Some patients progress to bone marrow failure, myelodysplastic syndrome and malignant transformation, with acute myelogenous leukemia being the most common. Exocrine pancreatic dysfunction is generally the first presenting symptom in infancy. Short stature and metaphyseal dysplasia are the most frequent skeletal manifestations. SDS2 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Sialidosis.",
"acronym": "SIALIDOSIS.",
"accession": "DI-02304",
"synonyms": null,
"cross_references": "MedGen; C1850510.",
"definition": "Lysosomal storage disease occurring as two types with various manifestations. Type 1 sialidosis (cherry red spot-myoclonus syndrome or normosomatic type) is late-onset and it is characterized by the formation of cherry red macular spots in childhood, progressive debilitating myoclonus, insiduous visual loss and rarely ataxia. The diagnosis can be confirmed by the screening of the urine for sialyloligosaccharides. Type 2 sialidosis (also known as dysmorphic type) occurs as several variants of increasing severity with earlier age of onset. It is characterized by the presence of abnormal somatic features including coarse facies and dysostosis multiplex, vertebral deformities, intellectual disability, cherry-red spot/myoclonus, sialuria, cytoplasmic vacuolation of peripheral lymphocytes, bone marrow cells and conjunctival epithelial cells. ",
"keywords": null
},
{
"identifier": "Sialuria.",
"acronym": "SIALURIA.",
"accession": "DI-02305",
"synonyms": "Sialuria French type.; ",
"cross_references": "MedGen; C2931471.",
"definition": "In sialuria, free sialic acid accumulates in the cytoplasm and gram quantities of neuraminic acid are secreted in the urine. The metabolic defect involves lack of feedback inhibition of UDP-GlcNAc 2-epimerase by CMP-Neu5Ac, resulting in constitutive overproduction of free Neu5Ac. Clinical features include variable degrees of developmental delay, coarse facial features and hepatomegaly. Sialuria inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Sickle cell disease.",
"acronym": "SKCA.",
"accession": "DI-02306",
"synonyms": "Sickle cell anemia.; ",
"cross_references": "MedGen; C0002895.",
"definition": "Characterized by abnormally shaped red cells resulting in chronic anemia and periodic episodes of pain, serious infections and damage to vital organs. Normal red blood cells are round and flexible and flow easily through blood vessels, but in sickle cell anemia, the abnormal hemoglobin (called Hb S) causes red blood cells to become stiff. They are C-shaped and resembles a sickle. These stiffer red blood cells can led to microvascular occlusion thus cutting off the blood supply to nearby tissues. ",
"keywords": null
},
{
"identifier": "Sick sinus syndrome 1.",
"acronym": "SSS1.",
"accession": "DI-01028",
"synonyms": "Autosomal recessive sick sinus syndrome 1.; Congenital absence of sinus rhythm.; Familial sinus bradycardia syndrome.; Familial sinus node disease autosomal recessive.; Sick sinus syndrome, congenital.; Sinus bradycardia syndrome, familial.; Sinus node disease, familial, autosomal recessive.; ",
"cross_references": "MeSH; D012804.",
"definition": "The term 'sick sinus syndrome' encompasses a variety of conditions caused by sinus node dysfunction. The most common clinical manifestations are syncope, presyncope, dizziness, and fatigue. Electrocardiogram typically shows sinus bradycardia, sinus arrest, and/or sinoatrial block. Episodes of atrial tachycardias coexisting with sinus bradycardia ('tachycardia-bradycardia syndrome') are also common in this disorder. SSS occurs most often in the elderly associated with underlying heart disease or previous cardiac surgery, but can also occur in the fetus, infant, or child without heart disease or other contributing factors. SSS1 onset is in utero, infancy, or early childhood. ",
"keywords": null
},
{
"identifier": "Sick sinus syndrome 2.",
"acronym": "SSS2.",
"accession": "DI-01029",
"synonyms": "Atrial fibrillation with bradyarrhythmia.; Autosomal dominant sick sinus syndrome 2.; Familial sinus bradycardia syndrome autosomal dominant.; Sick sinus syndrome 2 with or without cardiac noncompaction and/or ascending aorta dilation.; Sinus bradycardia syndrome, familial, autosomal dominant.; Sinus node disease, familial, autosomal dominant.; SSS autosomal dominant.; ",
"cross_references": "MeSH; D012804.",
"definition": "The term 'sick sinus syndrome' encompasses a variety of conditions caused by sinus node dysfunction. The most common clinical manifestations are syncope, presyncope, dizziness, and fatigue. Electrocardiogram typically shows sinus bradycardia, sinus arrest, and/or sinoatrial block. Episodes of atrial tachycardias coexisting with sinus bradycardia ('tachycardia-bradycardia syndrome') are also common in this disorder. SSS occurs most often in the elderly associated with underlying heart disease or previous cardiac surgery, but can also occur in the fetus, infant, or child without heart disease or other contributing factors. SSS2 onset is in utero or at birth. ",
"keywords": null
},
{
"identifier": "Sick sinus syndrome 3.",
"acronym": "SSS3.",
"accession": "DI-03155",
"synonyms": null,
"cross_references": "MeSH; D012804.",
"definition": "The term 'sick sinus syndrome' encompasses a variety of conditions caused by sinus node dysfunction. The most common clinical manifestations are syncope, presyncope, dizziness, and fatigue. Electrocardiogram typically shows sinus bradycardia, sinus arrest, and/or sinoatrial block. Episodes of atrial tachycardias coexisting with sinus bradycardia ('tachycardia-bradycardia syndrome') are also common in this disorder. SSS occurs most often in the elderly associated with underlying heart disease or previous cardiac surgery, but can also occur in the fetus, infant, or child without heart disease or other contributing factors. ",
"keywords": null
},
{
"identifier": "Sick sinus syndrome 4.",
"acronym": "SSS4.",
"accession": "DI-06153",
"synonyms": null,
"cross_references": "MeSH; D012804.",
"definition": "The term 'sick sinus syndrome' encompasses a variety of conditions caused by sinus node dysfunction. The most common clinical manifestations are syncope, presyncope, dizziness, and fatigue. Electrocardiogram typically shows sinus bradycardia, sinus arrest, and/or sinoatrial block. Episodes of atrial tachycardias coexisting with sinus bradycardia ('tachycardia-bradycardia syndrome') are also common in this disorder. SSS occurs most often in the elderly associated with underlying heart disease or previous cardiac surgery, but can also occur in the fetus, infant, or child without heart disease or other contributing factors. SSS4 is characterized by early and progressive sinus node and atrioventricular conduction dysfunction. Some affected individuals are asymptomatic. SSS4 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Siddiqi syndrome.",
"acronym": "SIDDIS.",
"accession": "DI-05681",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal recessive disorder characterized by early-onset progressive sensorineural hearing impairment, global developmental delay, regression of motor skills, dystonia, and low body mass index. Some patients have an ichthosis-like appearance of the skin and signs of sensory neuropathy. ",
"keywords": "KW-0209:Deafness.; KW-1023:Dystonia.; "
},
{
"identifier": "Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay.",
"acronym": "SIFD.",
"accession": "DI-04261",
"synonyms": null,
"cross_references": "MeSH; D056660.",
"definition": "An autosomal recessive disease characterized by severe sideroblastic anemia with onset in the neonatal period or infancy, recurrent periodic fevers without an infectious etiology, B-cell lymphopenia and hypogammaglobulinemia. Affected individuals show delayed psychomotor development with variable neurodegeneration. Additional variable features include sensorineural hearing loss, retinitis pigmentosa, nephrocalcinosis, and cardiomyopathy. ",
"keywords": null
},
{
"identifier": "Sifrim-Hitz-Weiss syndrome.",
"acronym": "SIHIWES.",
"accession": "DI-04857",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal dominant syndrome characterized by intellectual disability, variable congenital defects affecting cardiac, skeletal, and urogenital systems. Short stature, macrocephaly, hearing impairment, and facial dysmorphism are present in some patients. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Silver-Russell syndrome 1.",
"acronym": "SRS1.",
"accession": "DI-02493",
"synonyms": "RSS.; Russell-Silver syndrome.; Silver-Russell dwarfism.; Silver-Russell syndrome.; SRS.; ",
"cross_references": "MeSH; D056730.",
"definition": "A form of Silver-Russell syndrome, a clinically heterogeneous condition characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations. The phenotypic expression changes during childhood and adolescence, with the facial features and asymmetry usually becoming more subtle with age. SRS1 is caused by epigenetic changes of DNA hypomethylation at the telomeric imprinting control region (ICR1) on chromosome 11p15, involving the H19 and IGF2 genes. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Silver-Russell syndrome 3.",
"acronym": "SRS3.",
"accession": "DI-04494",
"synonyms": "GRDF.; Growth restriction, severe, with distinctive facies.; ",
"cross_references": "MeSH; D004392.",
"definition": "A form of Silver-Russell syndrome, a clinically heterogeneous condition characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations. The phenotypic expression changes during childhood and adolescence, with the facial features and asymmetry usually becoming more subtle with age. SRS3 inheritance is autosomal dominant. ",
"keywords": "KW-0242:Dwarfism.; "
}
]
}