{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4740&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4700&ordering=-synonyms","results":[{"identifier":"Mucopolysaccharidosis 4A.","acronym":"MPS4A.","accession":"DI-00778","synonyms":"Galactosamine-6-sulfatase deficiency.; GALNS deficiency.; Morquio's syndrome A.; Morquio A disease.; Morquio syndrome A.; MPS IVA.; Mucopolysaccharidosis type IVA.; ","cross_references":"MeSH; D009085.","definition":"A form of mucopolysaccharidosis type 4, an autosomal recessive lysosomal storage disease characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate. Key clinical features include short stature, skeletal dysplasia, dental anomalies, and corneal clouding. Intelligence is normal and there is no direct central nervous system involvement, although the skeletal changes may result in neurologic complications. There is variable severity, but patients with the severe phenotype usually do not survive past the second or third decade of life. ","keywords":"KW-0510:Mucopolysaccharidosis.; "},{"identifier":"Galactosemia 2.","acronym":"GALAC2.","accession":"DI-01643","synonyms":"Galactokinase deficiency.; Galactokinase deficiency with cataracts.; Galactosemia II.; GALK deficiency.; ","cross_references":"MeSH; D005693.","definition":"A form of galactosemia, an inborn error of galactose metabolism typically manifesting in the neonatal period, after ingestion of galactose, with jaundice, hepatosplenomegaly, hepatocellular insufficiency, food intolerance, hypoglycemia, renal tubular dysfunction, muscle hypotonia, sepsis and cataract. GALAC2 inheritance is autosomal recessive. ","keywords":null},{"identifier":"Glutaric aciduria 3.","acronym":"GA3.","accession":"DI-00516","synonyms":"GA III.; Glutaryl-CoA oxidase deficiency.; ","cross_references":"MeSH; D000592.","definition":"A metabolic disorder due to peroxisomal glutaryl-CoA oxidase deficiency and characterized by the excretion of abnormal quantities of glutaric acid but low 3-hydroxyglutaric acid. ","keywords":"KW-0316:Glutaricaciduria.; "},{"identifier":"Glutaric aciduria 1.","acronym":"GA1.","accession":"DI-00512","synonyms":"GA-I.; Glutaric acidemia type I.; Glutaryl-CoA dehydrogenase deficiency.; ","cross_references":"MeSH; D001928.","definition":"An autosomal recessive metabolic disorder characterized by progressive dystonia and athetosis due to gliosis and neuronal loss in the basal ganglia. ","keywords":"KW-0316:Glutaricaciduria.; "},{"identifier":"Hyperornithinemia with gyrate atrophy of choroid and retina.","acronym":"HOGA.","accession":"DI-01775","synonyms":"GACR.; Gyrate atrophy.; Gyrate atrophy of choroid and retina.; OAT deficiency.; OKT deficiency.; Ornithine aminotransferase deficiency.; Ornithine-delta-aminotransferase deficiency.; Ornithine keto acid aminotransferase deficiency.; ","cross_references":"MeSH; D015799.","definition":"A disorder clinically characterized by a triad of progressive chorioretinal degeneration, early cataract formation, and type II muscle fiber atrophy. Characteristic chorioretinal atrophy with progressive constriction of the visual fields leads to blindness at the latest during the sixth decade of life. Patients generally have normal intelligence. ","keywords":null},{"identifier":"Arterial calcification of infancy, generalized, 1.","acronym":"GACI1.","accession":"DI-01806","synonyms":"GACI.; Generalized arterial calcification of infancy.; Idiopathic infantile arterial calcification.; IIAC.; Occlusive infantile arteriopathy.; ","cross_references":"MeSH; D061205.","definition":"A severe autosomal recessive disorder characterized by calcification of the internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation. The disorder is often fatal within the first 6 months of life because of myocardial ischemia resulting in refractory heart failure. ","keywords":null},{"identifier":"Sorsby fundus dystrophy.","acronym":"SFD.","accession":"DI-02317","synonyms":"Fundus dystrophy, pseudoinflammatory, of Sorsby.; Macular dystrophy, hemorrhagic.; ","cross_references":"MeSH; D008268.","definition":"Rare autosomal dominant macular disorder with an age of onset in the fourth decade. It is characterized by loss of central vision from subretinal neovascularization and atrophy of the ocular tissues. Generally, macular disciform degeneration develops in the patients eye within 6 months to 6 years. ","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":"Fumarase deficiency.","acronym":"FMRD.","accession":"DI-01638","synonyms":"Fumaric aciduria.; ","cross_references":"MeSH; D011596.","definition":"A severe autosomal recessive metabolic disorder characterized by early-onset hypotonia, profound psychomotor retardation, and brain abnormalities, such as agenesis of the corpus callosum, gyral defects, and ventriculomegaly. Many patients show neonatal distress, metabolic acidosis, and/or encephalopathy. ","keywords":null},{"identifier":"Corneal dystrophy, Fuchs endothelial, 3.","acronym":"FECD3.","accession":"DI-04548","synonyms":"Fuchs endothelial corneal dystrophy, late-onset.; ","cross_references":"MeSH; D005642.","definition":"A late-onset form of Fuchs endothelial corneal dystrophy, a disease caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition. ","keywords":"KW-1212:Corneal dystrophy.; "},{"identifier":"Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young.","acronym":"FRTS4.","accession":"DI-04230","synonyms":"FRTS4 with MODY.; ","cross_references":"MeSH; D005198.","definition":"An autosomal dominant disease characterized by Fanconi syndrome associated with a beta cell phenotype of neonatal hyperinsulinism with macrosomia and young onset diabetes. Fanconi syndrome is a proximal tubulopathy resulting in generalized aminoaciduria, low molecular weight proteinuria, glycosuria, hyperphosphaturia and hypouricemia. Some FRTS4 patients have nephrocalcinosis, renal impairment, hypercalciuria with relative hypocalcemia, and hypermagnesemia. ","keywords":"KW-0219:Diabetes mellitus.; "},{"identifier":"Hallermann-Streiff syndrome.","acronym":"HSS.","accession":"DI-02798","synonyms":"Francois dyscephalic syndrome.; ","cross_references":"MeSH; D006210.","definition":"A disorder characterized by a typical skull shape (brachycephaly with frontal bossing), hypotrichosis, microphthalmia, cataracts, beaked nose, micrognathia, skin atrophy, dental anomalies and proportionate short stature. Intellectual disability is present in a minority of cases. ","keywords":null},{"identifier":"Foveal hypoplasia 1.","acronym":"FVH1.","accession":"DI-01624","synonyms":"Foveal hypoplasia and presenile cataract syndrome.; Foveal hypoplasia with or without anterior segment anomalies and/or cataract.; ","cross_references":"MeSH; D015785.","definition":"An isolated form of foveal hypoplasia, a developmental defect of the eye defined as the lack of foveal depression with continuity of all neurosensory retinal layers in the presumed foveal area. Clinical features include absence of foveal pit on optical coherence tomography, absence of foveal hyperpigmentation, absence of foveal avascularity, absence of foveal and macular reflexes, decreased visual acuity, and nystagmus. Anterior segment anomalies and cataract are observed in some FVH1 patients. ","keywords":null},{"identifier":"Cardiospondylocarpofacial syndrome.","acronym":"CSCF.","accession":"DI-04853","synonyms":"Forney Robinson Pascoe syndrome.; Mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones.; ","cross_references":"MeSH; D010026.","definition":"A syndrome characterized by growth retardation, dysmorphic facial features, brachydactyly with carpal-tarsal fusion and extensive posterior cervical vertebral synostosis, cardiac septal defects with valve dysplasia, and deafness with inner ear malformations. CSCF transmission pattern is consistent with autosomal dominant inheritance. ","keywords":null},{"identifier":"Glutamate formiminotransferase deficiency.","acronym":"FIGLU-URIA.","accession":"DI-01672","synonyms":"Formiminoglutamicaciduria.; Formiminoglutamic aciduria.; Formiminotransferase deficiency.; ","cross_references":"MedGen; C0268609.","definition":"Autosomal recessive disorder. Features of a severe phenotype, include elevated levels of formiminoglutamate (FIGLU) in the urine in response to histidine administration, megaloblastic anemia, and intellectual disability. Features of a mild phenotype include high urinary excretion of FIGLU in the absence of histidine administration, mild developmental delay, and no hematological abnormalities. ","keywords":null},{"identifier":"Parietal foramina 2.","acronym":"PFM2.","accession":"DI-02131","synonyms":"Foramina parietalia permagna.; FPP.; ","cross_references":"MedGen; C1865044.","definition":"Autosomal dominant disease characterized by oval defects of the parietal bones caused by deficient ossification around the parietal notch, which is normally obliterated during the fifth fetal month. PFM2 is also a clinical feature of Potocki-Shaffer syndrome. ","keywords":null},{"identifier":"Hypogonadotropic hypogonadism 24 with or without anosmia.","acronym":"HH24.","accession":"DI-01840","synonyms":"Follicle-stimulating hormone deficiency, isolated.; ","cross_references":"MeSH; D007246.","definition":"A form of hypogonadotropic hypogonadism, a group of disorders characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic- pituitary axis. HH24 is characterized by primary amenorrhea in women, oligo or azoospermia with low to normal testosterone levels in men, and infertility. ","keywords":"KW-1016:Hypogonadotropic hypogonadism.; "},{"identifier":"Megaloblastic anemia, folate-responsive.","acronym":"MEGAF.","accession":"DI-06089","synonyms":"Folate level in erythrocytes.; ","cross_references":"MeSH; D008661.","definition":"An autosomal recessive metabolic disorder characterized by megaloblastic anemia resulting from decreased folate transport into erythrocytes. Disease manifestations include hemolytic anemia, hyperhomocysteinemia, and low vitamin B12. Serum folate levels are normal, but erythrocyte folate levels are decreased. Treatment with oral folate corrects the anemia and normalizes homocysteine. ","keywords":"KW-0360:Hereditary hemolytic anemia.; "},{"identifier":"Keratoderma, palmoplantar, non-epidermolytic, focal 1.","acronym":"FNEPPK1.","accession":"DI-02590","synonyms":"Focal nonepidermolytic palmoplantar keratoderma.; Keratoderma, focal nonepidermolytic palmoplantar.; PPKFNE.; ","cross_references":"MeSH; D007645.","definition":"A dermatological disorder characterized by non-epidermolytic palmoplantar keratoderma limited to the pressure points on the balls of the feet, with later mild involvement on the palms. Oral, genital and follicular keratotic lesions are often present. ","keywords":"KW-1007:Palmoplantar keratoderma.; "},{"identifier":"Frontonasal dysplasia 1.","acronym":"FND1.","accession":"DI-02575","synonyms":"FND.; FNM.; Frontonasal dysplasia.; Frontonasal malformation.; Frontorhiny.; Median cleft syndrome.; ","cross_references":"MeSH; D000013.","definition":"The term frontonasal dysplasia describes an array of abnormalities affecting the eyes, forehead and nose and linked to midfacial dysraphia. The clinical picture is highly variable. Major findings include true ocular hypertelorism; broadening of the nasal root; median facial cleft affecting the nose and/or upper lip and palate; unilateral or bilateral clefting of the alae nasi; lack of formation of the nasal tip; anterior cranium bifidum occultum; a V-shaped or widow's peak frontal hairline. ","keywords":null}]}