{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5260&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5220&ordering=synonyms","results":[{"identifier":"Fetal akinesia deformation sequence 4.","acronym":"FADS4.","accession":"DI-05537","synonyms":null,"cross_references":"MeSH; D005317.","definition":"A clinically and genetically heterogeneous group of disorders with congenital malformations related to impaired fetal movement. Clinical features include fetal akinesia, intrauterine growth retardation, polyhydramnios, arthrogryposis, pulmonary hypoplasia, craniofacial abnormalities, and cryptorchidism. FADS4 inheritance is autosomal recessive. ","keywords":null},{"identifier":"Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies.","acronym":"FARIMPD.","accession":"DI-06263","synonyms":null,"cross_references":"MeSH; D000013.","definition":"An autosomal recessive disease characterized by fetal akinesia, and generalized joint contractures and arthrogryposis at birth. Affected newborns have severe respiratory insufficiency and significant dysmorphic facial features. Malformations of cortical development are seen on brain imaging, most commonly polymicrogyria or other gyral anomalies. Death usually occurs in infancy. ","keywords":null},{"identifier":"FG syndrome 2.","acronym":"FGS2.","accession":"DI-01616","synonyms":null,"cross_references":"MedGen; C1845902.","definition":"FG syndrome (FGS) is an X-linked disorder characterized by intellectual disability, relative macrocephaly, hypotonia and constipation. ","keywords":null},{"identifier":"FG syndrome 4.","acronym":"FGS4.","accession":"DI-01617","synonyms":null,"cross_references":"MedGen; C3275356.","definition":"FG syndrome (FGS) is an X-linked disorder characterized by intellectual disability, relative macrocephaly, hypotonia and constipation. ","keywords":null},{"identifier":"Fibrochondrogenesis 1.","acronym":"FBCG1.","accession":"DI-03132","synonyms":null,"cross_references":"MeSH; D010009.","definition":"A severe short-limbed skeletal dysplasia characterized by broad long- bone metaphyses, pear-shaped vertebral bodies, and characteristic morphology of the growth plate, in which the chondrocytes have a fibroblastic appearance and there are regions of fibrous cartilage extracellular matrix. Clinical features include a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Fibrochondrogenesis 2.","acronym":"FBCG2.","accession":"DI-03400","synonyms":null,"cross_references":"MeSH; D010009.","definition":"A severe skeletal dysplasia characterized by a flat midface, short long bones, short ribs with broad metaphyses, and vertebral bodies that show distinctive hypoplastic posterior ends and rounded anterior ends, giving the vertebral bodies a pinched appearance on lateral radiographic views. The chest is small, causing perinatal respiratory problems which usually, but not always, result in lethality. Affected individuals who survive the neonatal period have high myopia, mild to moderate hearing loss, and severe skeletal dysplasia. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Immunodeficiency 57 with autoinflammation.","acronym":"IMD57.","accession":"DI-05328","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal recessive primary immunodeficiency characterized by lymphopenia and recurrent viral, bacterial, and fungal infections. Patients exhibit early-onset inflammatory bowel disease involving the upper and lower gastrointestinal tract, and develop progressive polyarthritis. ","keywords":null},{"identifier":"Fibromuscular dysplasia, multifocal.","acronym":"FMDMF.","accession":"DI-06112","synonyms":null,"cross_references":"MeSH; D005352.","definition":"An autosomal dominant vascular disorder with incomplete penetrance, characterized by fibrous tissue and webs developing in the artery wall and leading to multiple arterial stenoses. Patients with multifocal fibromuscular dysplasia can develop arterial tortuosity, macroaneurysms, and dissections. Arterial rupture may occur. ","keywords":null},{"identifier":"Brugada syndrome 9.","acronym":"BRGDA9.","accession":"DI-04444","synonyms":null,"cross_references":"MeSH; D053840.","definition":"A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset. ","keywords":"KW-0992:Brugada syndrome.; "},{"identifier":"Brugada syndrome 8.","acronym":"BRGDA8.","accession":"DI-02557","synonyms":null,"cross_references":"MeSH; D053840.","definition":"A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset. ","keywords":"KW-0992:Brugada syndrome.; "},{"identifier":"Brugada syndrome 7.","acronym":"BRGDA7.","accession":"DI-02503","synonyms":null,"cross_references":"MeSH; D053840.","definition":"A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset. ","keywords":"KW-0992:Brugada syndrome.; "},{"identifier":"Fibrosis of extraocular muscles, congenital, 3B.","acronym":"CFEOM3B.","accession":"DI-04509","synonyms":null,"cross_references":"MeSH; D009886.","definition":"A congenital ocular motility disorder marked by restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. It is clinically characterized by anchoring of the eyes in downward gaze, ptosis, and backward tilt of the head. Congenital fibrosis of extraocular muscles type 3 presents as a non-progressive, autosomal dominant disorder with variable expression. Patients may be bilaterally or unilaterally affected, and their oculo-motility defects range from complete ophthalmoplegia (with the eyes fixed in a hypo- and exotropic position), to mild asymptomatic restrictions of ocular movement. Ptosis, refractive error, amblyopia, and compensatory head positions are associated with the more severe forms of the disorder. In some cases, the ocular phenotype is accompanied by additional features including developmental delay, corpus callosum agenesis, basal ganglia dysmorphism, facial weakness, polyneuropathy. ","keywords":null},{"identifier":"Fibrosis of extraocular muscles, congenital, 5.","acronym":"CFEOM5.","accession":"DI-04337","synonyms":null,"cross_references":"MeSH; D009886.","definition":"An ocular motility disorder characterized by congenital dysinnervation of various cranial nerves to ocular muscles. Clinical features are ophthalmoplegia, anchoring of the eyes in downward gaze, ptosis, and backward tilt of the head. ","keywords":null},{"identifier":"Brugada syndrome 6.","acronym":"BRGDA6.","accession":"DI-02501","synonyms":null,"cross_references":"MeSH; D053840.","definition":"A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset. ","keywords":"KW-0992:Brugada syndrome.; "},{"identifier":"Filippi syndrome.","acronym":"FLPIS.","accession":"DI-04307","synonyms":null,"cross_references":"MeSH; D019066.","definition":"A rare disorder characterized by microcephaly, pre- and postnatal growth failure, syndactyly, and distinctive facial features, including a broad nasal bridge and underdeveloped alae nasi. Some affected individuals have intellectual disability, seizures, undescended testicles in males, and teeth and hair abnormalities. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Brugada syndrome 5.","acronym":"BRGDA5.","accession":"DI-02502","synonyms":null,"cross_references":"MeSH; D053840.","definition":"A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset. ","keywords":"KW-0992:Brugada syndrome.; "},{"identifier":"Fleck retina, familial benign.","acronym":"FRFB.","accession":"DI-03359","synonyms":null,"cross_references":"MeSH; D012164.","definition":"An autosomal recessive condition associated with a distinctive retinal appearance and no apparent visual or electrophysiologic deficits. Affected individuals are asymptomatic, but fundus examination reveals a striking pattern of diffuse, yellow-white, fleck-like lesions extending to the far periphery of the retina but sparing the foveal region. ","keywords":null},{"identifier":"Fliedner-Zweier syndrome.","acronym":"FZS.","accession":"DI-06763","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal dominant neurodevelopmental disorder characterized by variable features including mild intellectual disability, seizures, behavioral abnormalities, and various skeletal and structural anomalies. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Floating-Harbor syndrome.","acronym":"FLHS.","accession":"DI-03389","synonyms":null,"cross_references":"MeSH; D000015.","definition":"A rare genetic disorder characterized by proportionate short stature, delayed bone age, delayed speech development, and typical facial features. The face is triangular with deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips. ","keywords":null},{"identifier":"Brugada syndrome 4.","acronym":"BRGDA4.","accession":"DI-00205","synonyms":null,"cross_references":"MeSH; D053840.","definition":"A heart disease characterized by the association of Brugada syndrome with shortened QT intervals. Brugada syndrome is a tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset. ","keywords":"KW-0992:Brugada syndrome.; "}]}