{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=660&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=620&ordering=synonyms","results":[{"identifier":"Bernard-Soulier syndrome.","acronym":"BSS.","accession":"DI-01274","synonyms":"BDPLT1.; Bernard-Soulier syndrome type A1.; Bernard-Soulier syndrome type B.; Bernard-Soulier syndrome type C.; Bleeding disorder platelet-type 1.; Giant platelet disease.; GPD.; Platelet glycoprotein Ib deficiency.; Von Willebrand factor receptor deficiency.; ","cross_references":"MeSH; D001606.","definition":"A coagulation disorder characterized by a prolonged bleeding time, unusually large platelets, thrombocytopenia, and impaired prothrombin consumption. ","keywords":null},{"identifier":"Glanzmann thrombasthenia 2.","acronym":"GT2.","accession":"DI-06076","synonyms":"BDPLT23.; Bleeding disorder, platelet-type, 23.; ","cross_references":"MeSH; D013915.","definition":"A form of Glanzmann thrombasthenia, a disorder characterized by failure of platelet aggregation, absent or diminished clot retraction, and mucocutaneous bleeding of mild-to-moderate severity. Glanzmann thrombasthenia has been classified into clinical types I and II. In type I, platelets show absence of glycoprotein IIb-IIIa complexes at their surface and lack fibrinogen and clot retraction capability. In type II, the platelets express glycoprotein IIb-IIIa complexes at reduced levels, have detectable amounts of fibrinogen, and have low or moderate clot retraction capability. ","keywords":null},{"identifier":"Glanzmann thrombasthenia 1.","acronym":"GT1.","accession":"DI-01664","synonyms":"BDPLT2.; Bleeding disorder platelet-type 2.; Deficiency of platelet fibrinogen receptor.; Glycoprotein complex IIb-IIIa deficiency.; Platelet glycoprotein IIb-IIIa deficiency.; Thrombasthenia of Glanzmann and Naegeli.; ","cross_references":"MeSH; D013915.","definition":"A form of Glanzmann thrombasthenia, a disorder characterized by failure of platelet aggregation, absent or diminished clot retraction, and mucocutaneous bleeding of mild-to-moderate severity. Glanzmann thrombasthenia has been classified into clinical types I and II. In type I, platelets show absence of glycoprotein IIb-IIIa complexes at their surface and lack fibrinogen and clot retraction capability. In type II, the platelets express glycoprotein IIb-IIIa complexes at reduced levels, have detectable amounts of fibrinogen, and have low or moderate clot retraction capability. GT1 inheritance is autosomal recessive. ","keywords":null},{"identifier":"von Willebrand disease, platelet-type.","acronym":"VWDP.","accession":"DI-02415","synonyms":"BDPLT3.; Bleeding disorder platelet-type 3.; Pseudo-von Willebrand disease.; Pseudo-vWD.; ","cross_references":"MeSH; D014842.","definition":"An autosomal dominant bleeding disorder characterized by abnormally enhanced binding of von Willebrand factor by the platelet glycoprotein Ib (GP Ib) receptor complex. Hemostatic function is impaired due to the removal of VWF multimers from the circulation. ","keywords":null},{"identifier":"Gray platelet syndrome.","acronym":"GPS.","accession":"DI-03181","synonyms":"BDPLT4.; Bleeding disorder platelet-type 4.; Grey platelet syndrome.; Platelet alpha-granule deficiency.; ","cross_references":"MeSH; D055652.","definition":"A rare platelet disorder characterized by a selective deficiency in the number and contents of platelet alpha-granules. It is associated with mild to moderate bleeding tendency and moderate thrombocytopenia. The platelets are enlarged and have a gray appearance on light microscopy of Wright-stained peripheral blood smears due to decreased granules. ","keywords":null},{"identifier":"Quebec platelet disorder.","acronym":"QPD.","accession":"DI-03256","synonyms":"BDPLT5.; Bleeding disorder platelet-type 5.; Factor V Quebec.; ","cross_references":"MeSH; D006470.","definition":"An autosomal dominant bleeding disorder due to a gain-of-function defect in fibrinolysis. Although affected individuals do not exhibit systemic fibrinolysis, they show delayed onset bleeding after challenge, such as surgery. The hallmark of the disorder is markedly increased PLAU levels within platelets, which causes intraplatelet plasmin generation and secondary degradation of alpha-granule proteins. ","keywords":null},{"identifier":"Scott syndrome.","acronym":"SCTS.","accession":"DI-03017","synonyms":"BDPLT7.; Bleeding abnormality due to deficiency of platelet binding of factor X.; Bleeding disorder platelet-type 7.; Prothrombin consumption deficiency.; Prothrombin consumption inhibitor familial.; Prothrombin conversion defect familial.; ","cross_references":"MeSH; D006470.","definition":"A mild bleeding disorder due to impaired surface exposure of procoagulant phosphatidylserine (PS) on platelets and other blood cells, following activation with Ca(2+)-elevating agents. ","keywords":null},{"identifier":"Beare-Stevenson cutis gyrata syndrome.","acronym":"BSTVS.","accession":"DI-01270","synonyms":"Beare-Stevenson syndrome.; Cutis gyrata syndrome of Beare and Stevenson.; ","cross_references":"MeSH; D012868.","definition":"An autosomal dominant disease characterized by craniofacial anomalies, particularly craniosynostosis, and ear defects, cutis gyrata, acanthosis nigricans, anogenital anomalies, skin tags, and prominent umbilical stump. The skin furrows have a corrugated appearance and are widespread. Cutis gyrata variably affects the scalp, forehead, face, preauricular area, neck, trunk, hands, and feet. ","keywords":"KW-0989:Craniosynostosis.; "},{"identifier":"Myotonia congenita, autosomal recessive.","acronym":"MCAR.","accession":"DI-01247","synonyms":"Becker disease.; Generalized myotonia.; ","cross_references":"MeSH; D009224.","definition":"A non-dystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction. Most patients have symptom onset in the legs, which later progresses to the arms, neck, and facial muscles. Many patients show marked hypertrophy of the lower limb muscles. The autosomal recessive form (Becker disease) is more severe than the autosomal dominant one (Thomsen disease). ","keywords":null},{"identifier":"Becker nevus syndrome.","acronym":"BNS.","accession":"DI-06747","synonyms":"Becker nevus, isolated.; Becker nevus, syndromic or isolated, somatic mosaic.; ","cross_references":"MeSH; D012878.","definition":"A syndrome characterized by the association of Becker nevi with musculoskeletal abnormalities, unilateral breast hypoplasia, intellectual disability, developmental delay, and cardiomyopathy. Becker nevus is a cutaneous hamartoma that appears in childhood as a unilateral tan patch and increases in thickness, pigmentation, and hair growth during adolescence. Histologically, epidermal acanthosis is accompanied by irregularly dispersed ectopic smooth muscle bundles and increased terminal hair follicles. Most cases are sporadic. ","keywords":null},{"identifier":"Seizures, benign familial infantile, 2.","acronym":"BFIS2.","accession":"DI-03373","synonyms":"Benign familial infantile convulsions 2.; BFIC2.; ","cross_references":"MeSH; D020936.","definition":"A form of benign familial infantile epilepsy, a neurologic disorder characterized by afebrile seizures occurring in clusters during the first year of life, without neurologic sequelae. BFIS2 inheritance is autosomal dominant. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Seizures, benign familial infantile, 3.","acronym":"BFIS3.","accession":"DI-00181","synonyms":"Benign familial infantile convulsions 3.; Benign familial neonatal-infantile epilepsy.; Benign familial neonatal-infantile seizures.; BFIC3.; BFNIS.; ","cross_references":"MeSH; D020936.","definition":"A form of benign familial infantile epilepsy, a neurologic disorder characterized by afebrile seizures occurring in clusters during the first year of life, without neurologic sequelae. BFIS3 inheritance is autosomal dominant. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Seizures, benign familial infantile, 5.","acronym":"BFIS5.","accession":"DI-04807","synonyms":"Benign familial infantile convulsions 5.; ","cross_references":"MeSH; D020936.","definition":"A form of benign familial infantile epilepsy, a neurologic disorder characterized by afebrile seizures occurring in clusters during the first year of life, without neurologic sequelae. BFIS5 inheritance is autosomal dominant. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Seizures, benign familial neonatal 1.","acronym":"BFNS1.","accession":"DI-00182","synonyms":"Benign familial neonatal convulsions 1.; Benign neonatal epilepsy 1.; Benign neonatal epilepsy 1 and/or myokymia.; Benign neonatal epilepsy 1 with myokymia.; Benign neonatal epilepsy atypical severe.; BFNC/myokymia syndrome.; BFNC1.; Convulsions benign familial neonatal 1 with myokymia.; EBN1.; Myokymia isolated.; Myokymia with neonatal epilepsy.; ","cross_references":"MeSH; D020936.","definition":"A disorder characterized by clusters of seizures occurring in the first days of life. Most patients have spontaneous remission by 12 months of age and show normal psychomotor development. Some rare cases manifest an atypical severe phenotype associated with epileptic encephalopathy and psychomotor retardation. The disorder is distinguished from benign familial infantile seizures by an earlier age at onset. In some patients, neonatal convulsions are followed later in life by myokymia, a benign condition characterized by spontaneous involuntary contractions of skeletal muscles fiber groups that can be observed as vermiform movement of the overlying skin. Electromyography typically shows continuous motor unit activity with spontaneous oligo- and multiplet-discharges of high intraburst frequency (myokymic discharges). Some patients may have isolated myokymia. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Seizures, benign familial neonatal 2.","acronym":"BFNS2.","accession":"DI-00183","synonyms":"Benign familial neonatal convulsions type 2.; Benign neonatal epilepsy 2.; BFNC2.; EBN2.; ","cross_references":"MeSH; D020936.","definition":"A disorder characterized by clusters of seizures occurring in the first days of life. Most patients have spontaneous remission by 12 months of age and show normal psychomotor development. The disorder is distinguished from benign familial infantile seizures by an earlier age at onset. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Ehlers-danlos syndrome, hypermobility type.","acronym":"EDSHMB.","accession":"DI-00438","synonyms":"Benign hypermobility syndrome.; EDS III.; Ehlers-Danlos syndrome, hypermobility type.; Ehlers-Danlos syndrome, type III.; ","cross_references":"MeSH; D004535.","definition":"A connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. It is a form of Ehlers-Danlos syndrome characterized by marked joint hyperextensibility without skeletal deformity. ","keywords":"KW-0248:Ehlers-Danlos syndrome.; "},{"identifier":"Maleylacetoacetate isomerase deficiency.","acronym":"MAAID.","accession":"DI-05047","synonyms":"Benign hypersuccinylacetonemia.; BHSA.; Hypersuccinylacetonemia, mild.; MAAI deficiency.; MHSA.; ","cross_references":"MeSH; D008661.","definition":"An autosomal recessive inborn error of metabolism characterized by mild elevations in succinylacetone in blood and urine, usually identified by newborn screening. Liver function and coagulation are normal. MAAID is a benign disorder. ","keywords":null},{"identifier":"Neuroocular syndrome 2, paroxysmal type.","acronym":"NOC2.","accession":"DI-06892","synonyms":"Benign paroxysmal tonic upgaze of childhood with ataxia.; Paroxysmal tonic upgaze, benign childhood, with ataxia.; ","cross_references":"MeSH; D065886.","definition":"A form of neuroocular syndrome, a group of disorders characterized by developmental delay, impaired intellectual development and ocular anomalies as primary findings. NOC2 is an autosomal dominant form characterized by eye deviation or nystagmus with abnormal head posturing apparent from birth or early infancy. Affected individuals also have hypotonia, mild developmental delay, dysarthria, and gait ataxia. Most patients have mildly impaired intellectual development. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Lipodystrophy, congenital generalized, 1.","acronym":"CGL1.","accession":"DI-00354","synonyms":"Berardinelli-Seip congenital lipodystrophy type 1.; Berardinelli-Seip syndrome.; Brunzell syndrome AGPAT2-related.; BSCL1.; Lipoatrophic diabetes.; Lipodystrophy Berardinelli type.; Total lipodystrophy and acromegaloid gigantism.; ","cross_references":"MeSH; D052497.","definition":"A form of congenital generalized lipodystrophy, a metabolic disorder characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes. Inheritance is autosomal recessive. ","keywords":"KW-0219:Diabetes mellitus.; KW-1022:Congenital generalized lipodystrophy.; "},{"identifier":"Lipodystrophy, congenital generalized, 2.","acronym":"CGL2.","accession":"DI-00355","synonyms":"Berardinelli-Seip congenital lipodystrophy type 2.; Berardinelli-Seip syndrome.; Brunzell syndrome BSCL2-related.; Lipoatrophic diabetes.; Lipodystrophy Berardinelli type.; Total lipodystrophy and acromegaloid gigantism.; ","cross_references":"MeSH; D052497.","definition":"A form of congenital generalized lipodystrophy, a metabolic disorder characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes. Inheritance is autosomal recessive. ","keywords":"KW-0219:Diabetes mellitus.; KW-1022:Congenital generalized lipodystrophy.; "}]}