{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2300","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2260","results":[{"identifier":"Exfoliation syndrome.","acronym":"XFS.","accession":"DI-02667","synonyms":"Exfoliation glaucoma.; Exfoliative syndrome.; Glaucoma capsulare.; PEX.; Pseudoexfoliation of the lens.; Pseudoexfoliation syndrome.; Pseudo-exfoliation syndrome.; XFG.; ","cross_references":"MeSH; D017889.","definition":"A disorder characterized by accumulation of abnormal fibrillar deposits in the anterior segment of the eye. In addition to being a cause of glaucoma and glaucomatous optic neuropathy, exfoliation syndrome has also been associated with lens zonule weakness, cataract formation, and systemic vascular complications due to deposition of exfoliation material in extraocular tissues. ","keywords":"KW-0955:Glaucoma.; "},{"identifier":"Exocrine pancreatic insufficiency dyserythropoietic anemia and calvarial hyperostosis.","acronym":"EPIDACH.","accession":"DI-01540","synonyms":null,"cross_references":"MedGen; C2675184.","definition":"Patients present with pancreatic insufficiency, intestinal malabsorption, failure to thrive, and anemia soon after birth. ","keywords":null},{"identifier":"Extraoral halitosis due to methanethiol oxidase deficiency.","acronym":"EHMTO.","accession":"DI-05353","synonyms":"Extraoral halitosis due to MTO deficiency.; Extraoral halitosis with dimethylsulfoxiduria.; Methanethiol oxidase deficiency.; MTO deficiency.; ","cross_references":"MeSH; D006209.","definition":"An autosomal recessive malodor condition characterized by extraoral blood-borne halitosis resulting from the accumulation of sulfur- containing metabolites. In extraoral blood-borne halitosis, malodorant compounds are carried to the lungs, where they enter the breath. Affected individuals have a cabbage-like breath odor, high levels of methanethiol and dimethylsulfide in oral and nasal breath, and elevated urinary excretion of dimethylsulfoxide in the absence of intake of dimethylsulfide-containing food or use of sulfur-containing medication, lower-gastrointestinal problems, and known metabolic defects, such as methionine adenosyltransferase deficiency and tyrosinemia. ","keywords":null},{"identifier":"Fabry disease.","acronym":"FD.","accession":"DI-01544","synonyms":null,"cross_references":"MedGen; C1970820.","definition":"Rare X-linked sphingolipidosis disease where glycolipid accumulates in many tissues. The disease consists of an inborn error of glycosphingolipid catabolism. FD patients show systemic accumulation of globotriaosylceramide (Gb3) and related glycosphingolipids in the plasma and cellular lysosomes throughout the body. Clinical recognition in males results from characteristic skin lesions (angiokeratomas) over the lower trunk. Patients may show ocular deposits, febrile episodes, and burning pain in the extremities. Death results from renal failure, cardiac or cerebral complications of hypertension or other vascular disease. Heterozygous females may exhibit the disorder in an attenuated form, they are more likely to show corneal opacities. ","keywords":null},{"identifier":"Facial clefting, oblique, 1.","acronym":"OBLFC1.","accession":"DI-03222","synonyms":"Oblique facial cleft.; Oculomaxillofacial dysplasia with oblique facial clefts.; Orbitofacial cleft.; ","cross_references":"MeSH; D019767.","definition":"A rare form of facial clefting. A facial cleft is any of the fissures between the embryonic prominences that normally unite to form the face. ","keywords":null},{"identifier":"Facial dysmorphism, hypertrichosis, epilepsy, intellectual and developmental delay, and gingival overgrowth syndrome.","acronym":"FHEIG.","accession":"DI-05531","synonyms":null,"cross_references":"MeSH; D000015.","definition":"An autosomal dominant syndrome characterized by delayed motor and intellectual development, poor speech, seizures, generalized hypertrichosis and facial dysmorphic features, including hypotonic facies, bitemporal narrowing, micrognathia, deep-set eyes, bushy eyebrows and long eyelashes, low-set ears, short deep philtrum, gingival overgrowth, prominent upper and lower vermilion, and everted upper lip. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Facial dysmorphism, immunodeficiency, livedo, and short stature.","acronym":"FILS.","accession":"DI-03708","synonyms":"FILS syndrome.; ","cross_references":"MeSH; D054068.","definition":"A syndrome characterized by mild facial dysmorphism, mainly malar hypoplasia, livedo on the skin since birth, and immunodeficiency resulting in recurrent infections. Growth impairment is observed during early childhood and results in variable short stature in adulthood. ","keywords":null},{"identifier":"Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs.","acronym":"FDLAB.","accession":"DI-04142","synonyms":"Ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism.; Shawaf-Traboulsi syndrome.; Traboulsi syndrome.; ","cross_references":"MeSH; D019465.","definition":"A syndrome characterized by dislocated crystalline lenses and anterior segment abnormalities in association with a distinctive facies involving flat cheeks and a beaked nose. Some affected individuals develop highly unusual non-traumatic conjunctival cysts (filtering blebs). ","keywords":null},{"identifier":"Facial palsy, congenital, with ptosis and velopharyngeal dysfunction.","acronym":"FPVEPD.","accession":"DI-05120","synonyms":null,"cross_references":"MeSH; D003389.","definition":"An autosomal dominant congenital disorder characterized by non- progressive bilateral facial palsy, velopharyngeal dysfunction presenting with varying degrees of hypomimia, rhinophonia and impaired gag reflex, and bilateral ptosis. ","keywords":null},{"identifier":"Facial paresis, hereditary congenital, 3.","acronym":"HCFP3.","accession":"DI-03507","synonyms":null,"cross_references":"MeSH; D005158.","definition":"A form of facial paresis, a disease characterized by isolated dysfunction of the facial nerve (CN VII). HCFP3 patients are affected by bilateral facial palsy, facial muscle weakness of muscles innervated by CN VII, hearing loss, and strabismus. ","keywords":null},{"identifier":"Facioscapulohumeral muscular dystrophy 1.","acronym":"FSHD1.","accession":"DI-01545","synonyms":"Facioscapulohumeral muscular dystrophy.; Facioscapulohumeral muscular dystrophy type 1A.; FMD.; FSHD.; FSHD1A.; Landouzy-Dejerine muscular dystrophy.; ","cross_references":"MeSH; D020391.","definition":"A degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles. ","keywords":null},{"identifier":"Facioscapulohumeral muscular dystrophy 2, digenic.","acronym":"FSHD2.","accession":"DI-03604","synonyms":"Digenic facioscapulohumeral muscular dystrophy.; Digenic FSHD2.; Facioscapulohumeral muscular dystrophy type 1B.; FSHD1B.; ","cross_references":"MeSH; D020391.","definition":"A degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles. ","keywords":null},{"identifier":"Facioscapulohumeral muscular dystrophy 3, digenic.","acronym":"FSHD3.","accession":"DI-06196","synonyms":null,"cross_references":"MeSH; D020391.","definition":"A form of facioscapulohumeral muscular dystrophy, a degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. FSHD3 is a digenic form characterized by adult onset of proximal muscle weakness affecting the face, neck, scapular muscles, and upper and lower limbs. Muscle involvement is usually asymmetric, and other muscle groups may become involved with progression of the disease. ","keywords":null},{"identifier":"Facioscapulohumeral muscular dystrophy 4, digenic.","acronym":"FSHD4.","accession":"DI-06197","synonyms":null,"cross_references":"MeSH; D020391.","definition":"A digenic form of facioscapulohumeral muscular dystrophy, a degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. With disease progression, other muscles may also become affected. There is significant clinical variability and incomplete penetrance. ","keywords":null},{"identifier":"Factor II deficiency.","acronym":"FA2D.","accession":"DI-02664","synonyms":"Dysprothrombinemia.; Hypoprothrombinemia.; Prothrombin deficiency.; ","cross_references":"MeSH; D007020.","definition":"A very rare blood coagulation disorder characterized by mucocutaneous bleeding symptoms. The severity of the bleeding manifestations correlates with blood factor II levels. ","keywords":null},{"identifier":"Factor V and factor VIII combined deficiency 1.","acronym":"F5F8D1.","accession":"DI-01546","synonyms":"Familial multiple coagulation factor deficiency I.; FMFD1.; FMFD I.; MCFD1.; Multiple coagulation factor deficiency 1.; Multiple coagulation factor deficiency I.; ","cross_references":"MeSH; D025861.","definition":"A blood coagulation disorder characterized by bleeding symptoms similar to those in hemophilia or parahemophilia, that are caused by single deficiency of FV or FVIII, respectively. The most common symptoms are epistaxis, menorrhagia, and excessive bleeding during or after trauma. Plasma levels of coagulation factors V and VIII are in the range of 5 to 30% of normal. ","keywords":null},{"identifier":"Factor V and factor VIII combined deficiency 2.","acronym":"F5F8D2.","accession":"DI-02942","synonyms":"MCFD2.; Multiple coagulation factor deficiency 2.; ","cross_references":"MeSH; D025861.","definition":"A blood coagulation disorder characterized by bleeding symptoms similar to those in hemophilia or parahemophilia, that are caused by single deficiency of FV or FVIII, respectively. The most common symptoms are epistaxis, menorrhagia, and excessive bleeding during or after trauma. Plasma levels of coagulation factors V and VIII are in the range of 5 to 30% of normal. ","keywords":null},{"identifier":"Factor V deficiency.","acronym":"FA5D.","accession":"DI-00486","synonyms":"Factor 5 deficiency.; Owren disease.; Owren parahemophilia.; Parahemophilia.; Quebec platelet disorder.; ","cross_references":"MeSH; D005166.","definition":"A blood coagulation disorder leading to a hemorrhagic diathesis known as parahemophilia. ","keywords":null},{"identifier":"Factor VII deficiency.","acronym":"FA7D.","accession":"DI-01541","synonyms":"Congenital proconvertin deficiency.; F7 deficiency.; Factor 7 deficiency.; Hypoproconvertinemia.; ","cross_references":"MeSH; D005168.","definition":"A hemorrhagic disease with variable presentation. The clinical picture can be very severe, with the early occurrence of intracerebral hemorrhages or repeated hemarthroses, or, in contrast, moderate with cutaneous-mucosal hemorrhages (epistaxis, menorrhagia) or hemorrhages provoked by a surgical intervention. Finally, numerous subjects are completely asymptomatic despite very low factor VII levels. ","keywords":null},{"identifier":"Factor X deficiency.","acronym":"FA10D.","accession":"DI-03028","synonyms":"F10 deficiency.; Factor 10 deficiency.; Stuart-Prower factor deficiency.; ","cross_references":"MeSH; D005171.","definition":"A hemorrhagic disease with variable presentation. Affected individuals can manifest prolonged nasal and mucosal hemorrhage, menorrhagia, hematuria, and occasionally hemarthrosis. Some patients do not have clinical bleeding diathesis. ","keywords":null}]}