{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4680&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4640&ordering=synonyms","results":[{"identifier":"Hypophosphatasia, infantile.","acronym":"HPPI.","accession":"DI-03099","synonyms":null,"cross_references":"MeSH; D007014.","definition":"A severe bone disease characterized by defective skeletal mineralization and biochemically by deficient activity of the tissue non-specific isoenzyme of alkaline phosphatase. Three more or less distinct types of infantile hypophosphatasia can be identified: (1) type 1 with onset in utero or in early postnatal life, craniostenosis, severe skeletal abnormalities, hypercalcemia, and death in the first year or so of life; (2) type 2 with later, more gradual development of symptoms, moderately severe 'rachitic' skeletal changes and premature loss of teeth; (3) type 3 with no symptoms, the condition being determined on routine studies. ","keywords":null},{"identifier":"Cardiac valvular dysplasia 2.","acronym":"CVDP2.","accession":"DI-06519","synonyms":null,"cross_references":"MeSH; D006349.","definition":"An autosomal recessive form of congenital heart defects, characterized primarily by congenital stenosis and insufficiency of the semilunar valves, although mild insufficiency of the atrioventricular valves has been observed as well. Other features include subaortic stenosis and dilation of the ascending aorta and/or pulmonary artery in some patients. ","keywords":null},{"identifier":"Hypophosphatasia, childhood.","acronym":"HPPC.","accession":"DI-03098","synonyms":null,"cross_references":"MeSH; D007014.","definition":"A bone disease characterized by defective skeletal mineralization and biochemically by deficient activity of the tissue non-specific isoenzyme of alkaline phosphatase. ","keywords":null},{"identifier":"Hypoparathyroidism, familial isolated, 2.","acronym":"FIH2.","accession":"DI-05841","synonyms":null,"cross_references":"MeSH; D007011.","definition":"An autosomal recessive form of hypoparathyroidism, a disorder characterized by hypocalcemia and hyperphosphatemia due to a deficiency of parathyroid hormone. Clinical features include seizures, tetany and cramps. ","keywords":null},{"identifier":"Hypomagnesemia 7, renal, with or without dilated cardiomyopathy.","acronym":"HOMG7.","accession":"DI-06559","synonyms":null,"cross_references":"MeSH; D015499.","definition":"An autosomal dominant renal disease characterized by hypomagnesemia, hypokalemia, salt wasting, and nephrocalcinosis. A subset of patients develop severe dilated cardiomyopathy. ","keywords":"KW-0122:Cardiomyopathy.; KW-0982:Primary hypomagnesemia.; "},{"identifier":"Hypomagnesemia 6.","acronym":"HOMG6.","accession":"DI-03071","synonyms":null,"cross_references":"MeSH; D015499.","definition":"A renal disease characterized by severely lowered serum magnesium levels in the absence of other electrolyte disturbances. Affected individuals show an inappropriately normal urinary magnesium excretion, demonstrating a defect in tubular reabsorption. Age of clinical onset is highly variable and some affected individuals are asymptomatic. ","keywords":"KW-0982:Primary hypomagnesemia.; "},{"identifier":"Cortical dysplasia-focal epilepsy syndrome.","acronym":"CDFES.","accession":"DI-00381","synonyms":null,"cross_references":"MeSH; D054220.","definition":"A disease characterized by cortical dysplasia, focal epilepsy, relative macrocephaly, and diminished deep-tendon reflexes. Intractable focal seizures begin in early childhood, after which language regression, hyperactivity, impulsive and aggressive behavior, and intellectual disability develop. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia.","acronym":"CDLSMD.","accession":"DI-05601","synonyms":null,"cross_references":"MeSH; D001847.","definition":"A severe form of calvarial doughnut lesions with bone fragility, a rare autosomal dominant disease characterized by low bone density, distinctive X-ray translucencies of the skull, multiple fractures, elevated serum alkaline phosphatase, and dental caries. CDLSMD patients show neonatal onset of fractures, severe short stature, marked cranial sclerosis, and spondylometaphyseal dysplasia. ","keywords":null},{"identifier":"Arterial calcification of infancy, generalized, 2.","acronym":"GACI2.","accession":"DI-03382","synonyms":null,"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":"Alpha-fetoprotein, hereditary persistence.","acronym":"HPAFP.","accession":"DI-04205","synonyms":null,"cross_references":"MeSH; D008661.","definition":"A benign autosomal dominant condition characterized by continued expression of alpha-fetoprotein in adult life. ","keywords":null},{"identifier":"Alpha-fetoprotein deficiency.","acronym":"AFPD.","accession":"DI-04204","synonyms":null,"cross_references":"MeSH; D008661.","definition":"A benign condition characterized by undetectable AFP levels in the amniotic fluid. Affected individuals are asymptomatic and present normal development. ","keywords":null},{"identifier":"Hypokalemic tubulopathy and deafness.","acronym":"HKTD.","accession":"DI-06151","synonyms":null,"cross_references":"MeSH; D015499.","definition":"An autosomal recessive disease characterized by renal tubulopathy with hypokalemia, salt wasting, disturbed acid-base homeostasis, and sensorineural deafness. ","keywords":"KW-0209:Deafness.; "},{"identifier":"Hypoinsulinemic hypoglycemia with hemihypertrophy.","acronym":"HIHGHH.","accession":"DI-03305","synonyms":null,"cross_references":"MeSH; D007003.","definition":"A disorder characterized by hypoglycemia, low insulin levels, low serum levels of ketone bodies and branched-chain amino acids, left- sided hemihypertrophy, neonatal macrosomia, reduced consciousness and hypoglycemic seizures. ","keywords":null},{"identifier":"Hypogonadotropic hypogonadism 9 with or without anosmia.","acronym":"HH9.","accession":"DI-03569","synonyms":null,"cross_references":"MeSH; D007006.","definition":"A disorder 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. In some cases, it is associated with non- reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin- releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). ","keywords":"KW-0956:Kallmann syndrome.; KW-1016:Hypogonadotropic hypogonadism.; "},{"identifier":"Hypogonadotropic hypogonadism 8 with or without anosmia.","acronym":"HH8.","accession":"DI-03568","synonyms":null,"cross_references":"MeSH; D007006.","definition":"A disorder 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. In some cases, it is associated with non- reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin- releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). ","keywords":"KW-1016:Hypogonadotropic hypogonadism.; "},{"identifier":"Corneal dystrophy, Fuchs endothelial, 8.","acronym":"FECD8.","accession":"DI-03947","synonyms":null,"cross_references":"MeSH; D005642.","definition":"A corneal 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":"Hypoparathyroidism, familial isolated, 1.","acronym":"FIH1.","accession":"DI-01590","synonyms":null,"cross_references":"MeSH; D007011.","definition":"A form of hypoparathyroidism, a disorder characterized by hypocalcemia and hyperphosphatemia due to a deficiency of parathyroid hormone. Clinical features include seizures, tetany and cramps. FIH1 inheritance can be autosomal dominant or recessive. ","keywords":null},{"identifier":"Hypogonadotropic hypogonadism 27 without anosmia.","acronym":"HH27.","accession":"DI-06349","synonyms":null,"cross_references":"MeSH; D017436.","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. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). HH27 is an autosomal recessive normosmic form characterized by lack of pubertal development associated with onset of obesity in early adolescence. ","keywords":"KW-1016:Hypogonadotropic hypogonadism.; "},{"identifier":"Hypogonadotropic hypogonadism 26 with or without anosmia.","acronym":"HH26.","accession":"DI-06321","synonyms":null,"cross_references":"MeSH; D017436.","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. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). HH26 is characterized by micropenis and cryptorchidism at birth in male patients, and absent puberty and anosmia in male or female patients. Some affected individuals also exhibit craniosynostosis. Inheritance can be autosomal dominant or autosomal recessive. ","keywords":"KW-0956:Kallmann syndrome.; KW-1016:Hypogonadotropic hypogonadism.; "},{"identifier":"Hypogonadotropic hypogonadism 25 with anosmia.","acronym":"HH25.","accession":"DI-05798","synonyms":null,"cross_references":"MeSH; D017436.","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. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). HH25 is an autosomal dominant form with anosmia, characterized by intrafamilial variable expressivity and incomplete penetrance. ","keywords":"KW-0956:Kallmann syndrome.; KW-1016:Hypogonadotropic hypogonadism.; "}]}