{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4240&ordering=-identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4200&ordering=-identifier","results":[{"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":"Gitelman syndrome.","acronym":"GTLMNS.","accession":"DI-00510","synonyms":"Bartter syndrome Gitelman variant.; Bartter syndrome hypocalciuric variant.; Potassium and magnesium depletion.; Primary renotubular hypomagnesemia-hypokalemia with hypocalciuria.; ","cross_references":"MeSH; D053579.","definition":"An autosomal recessive disorder characterized by hypokalemic alkalosis in combination with hypomagnesemia, low urinary calcium, and increased renin activity associated with normal blood pressure. Patients are often asymptomatic or present transient periods of muscular weakness and tetany, usually accompanied by abdominal pain, vomiting and fever. The phenotype is highly heterogeneous in terms of age at onset and severity. Cardinal features such as hypocalciuria and hypomagnesemia might also change during the life cycle of a given patient. It has overlapping features with Bartter syndrome. ","keywords":null},{"identifier":"GIST-plus syndrome.","acronym":"GISTPS.","accession":"DI-05623","synonyms":"Gastrointestinal stromal tumor/GIST-plus syndrome.; Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal.; ","cross_references":"MeSH; D046152.","definition":"A disorder characterized by multiple mesenchymal tumors of the gastrointestinal tract, including gastrointestinal stromal tumor, inflammatory fibroid polyps, and fibroid tumors. Additional features are coarse facies and skin, broad hands and feet, and premature tooth loss. GISTPS is an autosomal dominant disease with incomplete penetrance. Gastrointestinal stromal tumor and inflammatory fibroid polyps may also occur in isolation. ","keywords":null},{"identifier":"Gillessen-Kaesbach-Nishimura syndrome.","acronym":"GIKANIS.","accession":"DI-04737","synonyms":"Polycystic kidney disease, autosomal recessive, with microbrachycephaly, hypertelorism, and brachymelia.; ","cross_references":"MeSH; D017044.","definition":"A rare autosomal recessive syndrome characterized by severe skeletal dysplasia, facial dysmorphic features, polycystic kidney disease and other visceral malformations. It may be lethal in utero or early in life. The skeletal features uniformly comprise a round pelvis, mesomelic shortening of the upper limbs and defective ossification of the cervical spine. ","keywords":"KW-0900:Congenital disorder of glycosylation.; "},{"identifier":"Gillespie syndrome.","acronym":"GLSP.","accession":"DI-01661","synonyms":"Aniridia, cerebellar ataxia and mental deficiency.; ","cross_references":"MeSH; D015783.","definition":"A rare disease characterized by bilateral iris hypoplasia, congenital hypotonia, non-progressive ataxia, progressive cerebellar atrophy, and intellectual disability. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Gilles de la Tourette syndrome.","acronym":"GTS.","accession":"DI-01660","synonyms":null,"cross_references":"MedGen; C1392622.","definition":"Neurologic disorder manifested particularly by motor and vocal tics and associated with behavioral abnormalities. ","keywords":null},{"identifier":"Gilbert syndrome.","acronym":"GILBS.","accession":"DI-01659","synonyms":null,"cross_references":"MedGen; C0017551.","definition":"Occurs as a consequence of reduced bilirubin transferase activity and is often detected in young adults with vague non-specific complaints. ","keywords":null},{"identifier":"Giant axonal neuropathy 2, autosomal dominant.","acronym":"GAN2.","accession":"DI-04139","synonyms":"HMSN2 with neurofilament accumulations and infrequent giant axons.; ","cross_references":"MeSH; D015417.","definition":"An autosomal dominant peripheral axonal neuropathy characterized by onset of distal sensory impairment with lower extremity muscle weakness and atrophy after the second decade. Clinical features include foot deformities apparent in childhood, and cardiomyopathy in severely affected individuals. Sural nerve biopsy shows giant axonal swelling with neurofilament accumulation. ","keywords":"KW-0523:Neurodegeneration.; KW-0622:Neuropathy.; "},{"identifier":"Giant axonal neuropathy 1, autosomal recessive.","acronym":"GAN1.","accession":"DI-01658","synonyms":"GAN.; ","cross_references":"MeSH; D015417.","definition":"A severe autosomal recessive sensorimotor neuropathy affecting both the peripheral nerves and the central nervous system. Axonal loss and the presence of giant axonal swellings filled with neurofilaments on nerve biopsies are the hallmarks of this neurodegenerative disorder. ","keywords":"KW-0523:Neurodegeneration.; KW-0622:Neuropathy.; "},{"identifier":"Ghosal hematodiaphyseal dysplasia.","acronym":"GHDD.","accession":"DI-01657","synonyms":null,"cross_references":"MedGen; C1856465.","definition":"Rare autosomal recessive disorder characterized by increased bone density with predominant diaphyseal involvement and aregenerative corticosteroid-sensitive anemia. Aregenerative anemia is characterized by bone marrow failure, so that functional marrow cells are regenerated slowly or not at all. ","keywords":null},{"identifier":"Gerstmann-Straussler disease.","acronym":"GSD.","accession":"DI-01656","synonyms":"Cerebellar ataxia, progressive dementia, and amyloid deposits in CNS.; Cerebral amyloidosis with spongiform encephalopathy.; Gerstmann-Straussler-Scheinker disease.; GSS.; Prion dementia.; Subacute spongiform encephalopathy Gerstmann-Straussler type.; ","cross_references":"MeSH; D016098.","definition":"A rare inherited prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain. GSD presents with progressive limb and truncal ataxia, dysarthria, and cognitive decline in the thirties and forties, and the average disease duration is 7 years. ","keywords":"KW-1008:Amyloidosis.; "},{"identifier":"Geroderma osteodysplasticum.","acronym":"GO.","accession":"DI-00509","synonyms":"Gerodermia osteodysplastica.; Walt Disney dwarfism.; ","cross_references":"MeSH; D012873.","definition":"A rare autosomal recessive disorder characterized by lax, wrinkled skin, joint laxity and a typical face with a prematurely aged appearance. Skeletal signs include severe osteoporosis leading to frequent fractures, malar and mandibular hypoplasia and a variable degree of growth retardation. ","keywords":"KW-0242:Dwarfism.; KW-1285:Osteoporosis.; "},{"identifier":"Genitourinary and/or brain malformation syndrome.","acronym":"GUBS.","accession":"DI-05791","synonyms":null,"cross_references":"MeSH; D014564.","definition":"An autosomal dominant syndrome characterized by multiple congenital anomalies including urogenital malformations and brain abnormalities ranging from agenesis of the corpus callosum to anencephaly. ","keywords":null},{"identifier":"Genitopatellar syndrome.","acronym":"GTPTS.","accession":"DI-03437","synonyms":null,"cross_references":"MeSH; D000015.","definition":"A rare disorder consisting of microcephaly, severe psychomotor retardation, and characteristic coarse facial features, including broad nose and small or retracted chin, associated with congenital flexion contractures of the lower extremities, abnormal or missing patellae, and urogenital anomalies. ","keywords":null},{"identifier":"Generalized epilepsy with febrile seizures plus 9.","acronym":"GEFSP9.","accession":"DI-04300","synonyms":"GEFS+9.; GEFS+ type 9.; Generalized epilepsy with febrile seizures plus, type 9.; ","cross_references":"MeSH; D004829.","definition":"An autosomal dominant neurologic disorder characterized by febrile and/or afebrile seizures manifesting in early childhood. Seizure are variable and include generalized tonic-clonic, atonic, myoclonic, complex partial, and absence types. Most patients have remission of seizures later in childhood with no residual neurologic deficits. Rarely, patients may show mild developmental delay or mild intellectual disabilities. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Generalized epilepsy with febrile seizures plus 7.","acronym":"GEFSP7.","accession":"DI-02931","synonyms":"GEFS+7.; GEFS+ type 7.; ","cross_references":"MeSH; D004829.","definition":"A rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Generalized epilepsy with febrile seizures plus 5.","acronym":"GEFSP5.","accession":"DI-00508","synonyms":"GEFS+5.; GEFS+ type 5.; ","cross_references":"MeSH; D004829.","definition":"A rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Generalized epilepsy with febrile seizures plus 3.","acronym":"GEFSP3.","accession":"DI-00507","synonyms":"GEFS+3.; GEFS+ type 3.; ","cross_references":"MeSH; D004829.","definition":"A rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Generalized epilepsy with febrile seizures plus 2.","acronym":"GEFSP2.","accession":"DI-00506","synonyms":"GEFS+2.; GEFS+ type 2.; ","cross_references":"MeSH; D004829.","definition":"A rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Generalized epilepsy with febrile seizures plus 12.","acronym":"GEFSP12.","accession":"DI-06865","synonyms":null,"cross_references":"MeSH; D004829.","definition":"An autosomal dominant neurologic disorder with variable expressivity and incomplete penetrance. Affected individuals have variable types of seizures, most often febrile seizures, sometimes combined with non- febrile focal or generalized seizures. Rarely, afebrile tonic-clonic seizures have been observed. ","keywords":"KW-0887:Epilepsy.; "}]}