{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2480","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2440","results":[{"identifier":"Gand syndrome.","acronym":"GAND.","accession":"DI-03650","synonyms":"MRD18.; ","cross_references":"MeSH; D008607.","definition":"An autosomal dominant syndrome characterized by global developmental delay with motor delay, moderate to severely impaired intellectual development, and poor speech acquisition in most patients. Additional features include hypotonia, feeding difficulties in infancy, and dysmorphic features. More variable features may include seizures, cardiac abnormalities, and non-specific findings on brain imaging. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"GAPO syndrome.","acronym":"GAPOS.","accession":"DI-03790","synonyms":"Growth retardation, alopecia, pseudoanodontia, and optic atrophy.; ","cross_references":"MeSH; D006130.","definition":"An autosomal recessive disease characterized by growth retardation, alopecia, failure of tooth eruption, and progressive optic atrophy in some patients. ","keywords":"KW-1063:Hypotrichosis.; "},{"identifier":"Garg-Mishra progeroid syndrome.","acronym":"GMPGS.","accession":"DI-06792","synonyms":null,"cross_references":"MeSH; D019588.","definition":"An autosomal recessive syndrome characterized by a progeroid appearance, severe dwarfism, mandibular hypoplasia, hyperopia, and partial lipodystrophy. ","keywords":null},{"identifier":"Gastric adenocarcinoma and proximal polyposis of the stomach.","acronym":"GAPPS.","accession":"DI-06046","synonyms":"Fundic gland polyposis.; Polyposis, gastric.; Polyposis of gastric fundus without polyposis coli.; ","cross_references":"MeSH; D013274.","definition":"A familial gastric polyposis syndrome characterized by autosomal dominant transmission of fundic gland polyposis with occasional hyperplastic and adenomatous polyps, sparing of the gastric antrum, and a significant risk of intestinal-type gastric adenocarcinoma development. Colorectal polyposis is not observed, and family history does not include colorectal cancer. ","keywords":null},{"identifier":"Gastric cancer.","acronym":"GASC.","accession":"DI-02971","synonyms":"Gastric cancer intestinal.; Stomach cancer.; ","cross_references":"MeSH; D013274.","definition":"A malignant disease which starts in the stomach, can spread to the esophagus or the small intestine, and can extend through the stomach wall to nearby lymph nodes and organs. It also can metastasize to other parts of the body. The term gastric cancer or gastric carcinoma refers to adenocarcinoma of the stomach that accounts for most of all gastric malignant tumors. Two main histologic types are recognized, diffuse type and intestinal type carcinomas. Diffuse tumors are poorly differentiated infiltrating lesions, resulting in thickening of the stomach. In contrast, intestinal tumors are usually exophytic, often ulcerating, and associated with intestinal metaplasia of the stomach, most often observed in sporadic disease. ","keywords":null},{"identifier":"Gastrointestinal defects and immunodeficiency syndrome 1.","acronym":"GIDID1.","accession":"DI-03733","synonyms":"Familial intestinal polyatresia syndrome.; FIPA.; Gastrointestinal defects and immunodeficiency syndrome.; GIDID.; Intestinal atresia, multiple.; Intestinal atresia, multiple and/or inflammatory bowel disease with or without immunodeficiency.; MIA.; MINAT.; Multiple intestinal atresia and/or inflammatory bowel disease with or without immunodeficiency.; ","cross_references":"MeSH; D007409.","definition":"An autosomal recessive congenital disorder in which obstructions occur at various levels throughout the small and large intestines, ultimately leading to organ failure. Surgical interventions are palliative but do not provide long-term survival. Some patients exhibit inflammatory bowel disease (IBD), with or without intestinal atresia, and in some cases, the intestinal features are associated with either mild or severe combined immunodeficiency. ","keywords":null},{"identifier":"Gastrointestinal defects and immunodeficiency syndrome 2.","acronym":"GIDID2.","accession":"DI-06318","synonyms":"Multiple intestinal atresia with or without leukopenia.; ","cross_references":"MeSH; D007409.","definition":"A severe autosomal recessive disorder characterized by multiple intestinal atresia apparent soon after birth. Affected infants have a distended abdomen, bowel obstruction and do not pass meconium. There is some evidence of inflammatory bowel disease. Death occurs in the first weeks of life. Some patients may also have immunodeficiency. ","keywords":null},{"identifier":"Gastrointestinal stromal tumor.","acronym":"GIST.","accession":"DI-01646","synonyms":null,"cross_references":"MeSH; D046152.","definition":"Common mesenchymal neoplasms arising in the gastrointestinal tract, most often in the stomach. They are histologically, immunohistochemically, and genetically different from typical leiomyomas, leiomyosarcomas, and schwannomas. Most GISTs are composed of a fairly uniform population of spindle-shaped cells. Some tumors are dominated by epithelioid cells or contain a mixture of spindle and epithelioid morphologies. Primary GISTs in the gastrointestinal tract commonly metastasize in the omentum and mesenteries, often as multiple nodules. However, primary tumors may also occur outside of the gastrointestinal tract, in other intra-abdominal locations, especially in the omentum and mesentery. ","keywords":null},{"identifier":"Gastrointestinal ulceration, recurrent, with dysfunctional platelets.","acronym":"GURDP.","accession":"DI-05517","synonyms":"Deficiency of phospholipase A2, group IVA.; ","cross_references":"MeSH; D014456.","definition":"An autosomal recessive disorder characterized by recurrent gastrointestinal mucosal ulcers, gastrointestinal bleeding, chronic anemia, iron deficiency, and abdominal pain. Disease features also include platelet dysfunction, and globally decreased eicosanoid synthesis. ","keywords":null},{"identifier":"Gaucher disease.","acronym":"GD.","accession":"DI-03092","synonyms":"Acid beta-glucosidase deficiency.; GBA deficiency.; Glucocerebrosidase deficiency.; ","cross_references":"MeSH; D005776.","definition":"An autosomal recessive lysosomal storage disease due to deficient activity of lysosomal beta-glucocerebrosidase, and characterized by accumulation of glucosylceramide in the reticulo-endothelial system. GD is a multisystem disease historically divided into three main subtypes on the basis of the presence of neurologic involvement, age at onset and progression rate: type 1 is the non-neuropathic form, type 2 is the acute neuropathic form with early onset and rapid neurologic deterioration, type 3 is the chronic neuropathic form with slow progression of neurologic features. GD shows a marked phenotypic diversity ranging from adult asymptomatic forms, at the mild end, to perinatal lethal forms at the severe end of the disease spectrum. Formal diagnosis of Gaucher disease is based on the measurement of glucocerebrosidase levels in circulating leukocytes and molecular genetic analysis. ","keywords":null},{"identifier":"Gaucher disease 1.","acronym":"GD1.","accession":"DI-01647","synonyms":"Adult non-neuronopathic Gaucher disease.; Gaucher disease type I.; GD I.; Noncerebral juvenile Gaucher disease.; ","cross_references":"MeSH; D005776.","definition":"A form of Gaucher disease, an autosomal recessive lysosomal storage disease due to deficient activity of lysosomal beta- glucocerebrosidase, and characterized by accumulation of glucosylceramide in the reticulo-endothelial system. GD1 is characterized by hepatosplenomegaly with consequent anemia and thrombopenia, and bone involvement. The central nervous system is not involved. ","keywords":null},{"identifier":"Gaucher disease 2.","acronym":"GD2.","accession":"DI-01648","synonyms":"Acute neuronopathic Gaucher disease.; Gaucher disease type II.; GD II.; ","cross_references":"MeSH; D005776.","definition":"The most severe form of Gaucher disease, an autosomal recessive lysosomal storage disease due to deficient activity of lysosomal beta- glucocerebrosidase, and characterized by accumulation of glucosylceramide in the reticulo-endothelial system. GD2 is an acute neuronopathic form that manifests soon after birth, with death generally occurring before patients reach two years of age. Clinical features include hepatosplenomegaly, developmental regression, growth arrest, and rapidly progressing neurologic deterioration. ","keywords":null},{"identifier":"Gaucher disease 3.","acronym":"GD3.","accession":"DI-01649","synonyms":"Cerebral, juvenile and adult, Gaucher disease.; Gaucher disease chronic neuronopathic type.; Gaucher disease type II.; GD III.; Subacute neuronopathic Gaucher disease.; ","cross_references":"MeSH; D005776.","definition":"A form of Gaucher disease, an autosomal recessive lysosomal storage disease due to deficient activity of lysosomal beta- glucocerebrosidase, and characterized by accumulation of glucosylceramide in the reticulo-endothelial system. GD3 is a subacute neuronopathic form characterized by later onset and slower progression compared to Gaucher disease 2. ","keywords":null},{"identifier":"Gaucher disease 3C.","acronym":"GD3C.","accession":"DI-01650","synonyms":"Gaucher-like disease.; Pseudo-Gaucher disease.; ","cross_references":"MeSH; D005776.","definition":"A variant of subacute neuronopathic Gaucher disease 3 associated with cardiovascular calcifications. ","keywords":null},{"identifier":"Gaucher disease, atypical, due to saposin C deficiency.","acronym":"GDSAPC.","accession":"DI-01196","synonyms":null,"cross_references":"MeSH; D005776.","definition":"A disease characterized by marked glucosylceramide accumulation in the spleen without having a deficiency of glucosylceramide-beta glucosidase characteristic of classic Gaucher disease. Gaucher disease is a lysosomal storage disorder characterized by skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement. ","keywords":null},{"identifier":"Gaucher disease perinatal lethal.","acronym":"GDPL.","accession":"DI-02151","synonyms":null,"cross_references":"MedGen; C1842704.","definition":"Distinct form of Gaucher disease type 2, characterized by fetal onset. Hydrops fetalis, in utero fetal death and neonatal distress are prominent features. When hydrops is absent, neurologic involvement begins in the first week and leads to death within 3 months. Hepatosplenomegaly is a major sign, and is associated with ichthyosis, arthrogryposis, and facial dysmorphism. ","keywords":null},{"identifier":"Gaze palsy, familial horizontal, with progressive scoliosis, 1.","acronym":"HGPPS1.","accession":"DI-01576","synonyms":"Familial horizontal gaze palsy with progressive scoliosis.; HGPPS.; ","cross_references":"MeSH; D015835.","definition":"An autosomal recessive neurologic disorder characterized by eye movement abnormalities apparent from birth, childhood-onset progressive scoliosis, distinctive brainstem malformation and defective crossing of some brainstem neuronal pathways. ","keywords":null},{"identifier":"Gaze palsy, familial horizontal, with progressive scoliosis, 2, with impaired intellectual development.","acronym":"HGPPS2.","accession":"DI-05031","synonyms":null,"cross_references":"MeSH; D015835.","definition":"An autosomal recessive neurologic disorder characterized by global developmental delay, delayed walking, intellectual disability, horizontal gaze palsy, and childhood-onset progressive scoliosis. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Geleophysic dysplasia 1.","acronym":"GPHYSD1.","accession":"DI-01652","synonyms":"Geleophysic dwarfism.; ","cross_references":"MeSH; D004392.","definition":"An autosomal recessive disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have characteristic facial features including a 'happy' face with full cheeks, shortened nose, hypertelorism, long and flat philtrum, and thin upper lip. Other distinctive features include progressive cardiac valvular thickening often leading to an early death, toe walking, tracheal stenosis, respiratory insufficiency, and lysosomal-like storage vacuoles in various tissues. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Geleophysic dysplasia 2.","acronym":"GPHYSD2.","accession":"DI-03224","synonyms":"Geleophysic dwarfism.; ","cross_references":"MeSH; D004392.","definition":"An autosomal dominant disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have characteristic facial features including a 'happy' face with full cheeks, shortened nose, hypertelorism, long and flat philtrum, and thin upper lip. Other distinctive features include progressive cardiac valvular thickening often leading to an early death, toe walking, tracheal stenosis, respiratory insufficiency, and lysosomal-like storage vacuoles in various tissues. ","keywords":"KW-0242:Dwarfism.; "}]}