Human Disease List
GET /api/human_diseases/?format=api&offset=4340&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4360&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4320&ordering=-identifier", "results": [ { "identifier": "Fibrosis of extraocular muscles, congenital, 1.", "acronym": "CFEOM1.", "accession": "DI-00352", "synonyms": "Blepharoptosis with absent eye movements.; Congenital ophthalmoplegia.; FEOM1.; ", "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. Patients affected by congenital fibrosis of extraocular muscles type 1 show an absence of the superior division of the oculomotor nerve (cranial nerve III) and corresponding oculomotor subnuclei. ", "keywords": null }, { "identifier": "Fibrosis, neurodegeneration, and cerebral angiomatosis.", "acronym": "FINCA.", "accession": "DI-05458", "synonyms": "FINCA syndrome.; ", "cross_references": "MeSH; D020271.", "definition": "An autosomal recessive, early-onset and fatal disorder clinically characterized by progressive cerebropulmonary symptoms, malabsorption, progressive growth failure, recurrent infections, chronic hemolytic anemia and transient liver dysfunction. Death occurs in the first years of life due to respiratory failure. Post-mortem neuropathological examination reveals increased angiomatosis-like leptomeningeal, cortical and superficial white matter vascularisation and congestion, vacuolar degeneration and myelin loss in white matter, as well as neuronal degeneration. Interstitial fibrosis and granuloma- like lesions are observed in the lungs. Hepatomegaly, steatosis and collagen accumulation are detected in the liver. ", "keywords": "KW-0523:Neurodegeneration.; " }, { "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": "Fibromatosis, gingival, 5.", "acronym": "GINGF5.", "accession": "DI-05072", "synonyms": "Fibromatosis, gingival, hereditary, 5.; GGF5.; HGF5.; ", "cross_references": "MeSH; D005351.", "definition": "An autosomal dominant form of hereditary gingival fibromatosis, a rare condition characterized by a slow, progressive overgrowth of the gingiva. The excess gingival tissue can cover part of or the entire crown, and can result in diastemas, teeth displacement, or retention of primary or impacted teeth. ", "keywords": null }, { "identifier": "Fibromatosis, gingival, 1.", "acronym": "GINGF1.", "accession": "DI-01662", "synonyms": "Fibromatosis, gingival, hereditary.; GGF1.; GINGF.; Hereditary gingival fibromatosis.; HGF.; ", "cross_references": "MeSH; D005351.", "definition": "A form of hereditary gingival fibromatosis, a rare condition characterized by a slow, progressive overgrowth of the gingiva. The excess gingival tissue can cover part of or the entire crown, and can result in diastemas, teeth displacement, or retention of primary or impacted teeth. GINGF1 is usually transmitted as an autosomal dominant trait, although sporadic cases are common. ", "keywords": null }, { "identifier": "Fibrodysplasia ossificans progressiva.", "acronym": "FOP.", "accession": "DI-00499", "synonyms": "Man of stone.; Myositis ossificans.; Myositis ossificans progressive.; ", "cross_references": "MeSH; D009221.", "definition": "A rare autosomal dominant connective tissue disorder resulting in skeletal malformations and progressive extraskeletal ossification. Heterotopic ossification begins in childhood and can be induced by trauma or may occur without warning. Bone formation is episodic and progressive, leading to a debilitating ankylosis of all major joints of the axial and appendicular skeleton, rendering movement impossible. ", "keywords": null }, { "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": "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": "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": "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": "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": "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 deformation sequence 3.", "acronym": "FADS3.", "accession": "DI-05536", "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. FADS3 inheritance is autosomal recessive. ", "keywords": null }, { "identifier": "Fetal akinesia deformation sequence 2.", "acronym": "FADS2.", "accession": "DI-05535", "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. FADS2 inheritance is autosomal recessive. ", "keywords": null }, { "identifier": "Fetal akinesia deformation sequence 1.", "acronym": "FADS1.", "accession": "DI-01615", "synonyms": "Arthrogryposis multiplex congenita with pulmonary hypoplasia.; FADS.; Fetal akinesia deformation sequence.; Fetal akinesia sequence.; Pena-Shokeir syndrome type 1.; ", "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. FADS1 inheritance is autosomal recessive. ", "keywords": null }, { "identifier": "Ferguson-Bonni neurodevelopmental syndrome.", "acronym": "FERBON.", "accession": "DI-06315", "synonyms": null, "cross_references": "MeSH; D065886.", "definition": "An autosomal recessive disorder characterized by global developmental delay, impaired intellectual development, and hypotonia with early motor delay. Additional features may include dysmorphic facies, mild skeletal abnormalities, and hearing loss. ", "keywords": "KW-0991:Intellectual disability.; " }, { "identifier": "Feingold syndrome 2.", "acronym": "FGLDS2.", "accession": "DI-03283", "synonyms": "Brachydactyly with short stature and microcephaly.; ", "cross_references": "MeSH; D017880.", "definition": "A syndrome characterized by microcephaly, short stature, and digital abnormalities including brachydactyly, brachymesophalangy of the second and fifth fingers, hypoplastic thumbs of variable severity, and cutaneous syndactyly of the toes. ", "keywords": null }, { "identifier": "Feingold syndrome 1.", "acronym": "FGLDS1.", "accession": "DI-01612", "synonyms": "Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum.; Microcephaly-oculo-digito-esophageal-duodenal syndrome.; MMT syndrome.; MODED.; Oculodigitoesophagoduodenal syndrome.; ODED.; ", "cross_references": "MeSH; D017880.", "definition": "A syndrome characterized by variable combinations of esophageal and duodenal atresias, microcephaly, learning disability, intellectual disability, and limb malformations. Hand and foot abnormalities may include hypoplastic thumbs, clinodactyly of second and fifth fingers, syndactyly (characteristically between second and third and fourth and fifth toes), and shortened or absent middle phalanges. Cardiac and renal malformations, vertebral anomalies, and deafness have also been described. ", "keywords": null }, { "identifier": "Febrile seizures, familial, 8.", "acronym": "FEB8.", "accession": "DI-00490", "synonyms": "Familial febrile convulsions 8.; ", "cross_references": "MeSH; D003294.", "definition": "Seizures associated with febrile episodes in childhood without any evidence of intracranial infection or defined pathologic or traumatic cause. It is a common condition, affecting 2-5% of children aged 3 months to 5 years. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy. ", "keywords": null }, { "identifier": "Febrile seizures, familial, 4.", "acronym": "FEB4.", "accession": "DI-00489", "synonyms": "Familial febrile convulsions 4.; ", "cross_references": "MeSH; D003294.", "definition": "Seizures associated with febrile episodes in childhood without any evidence of intracranial infection or defined pathologic or traumatic cause. It is a common condition, affecting 2-5% of children aged 3 months to 5 years. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy. ", "keywords": null } ] }