{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2940","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2900","results":[{"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":"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":"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":"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":"Hypomagnesemia 1.","acronym":"HOMG1.","accession":"DI-00576","synonyms":"HOMG.; HSH.; Hypomagnesemia with secondary hypocalcemia.; Hypomagnesemic tetany.; Intestinal hypomagnesemia 1.; Intestinal hypomagnesemia with secondary hypocalcemia.; ","cross_references":"MeSH; D008286.","definition":"A disorder due to a primary defect in intestinal magnesium absorption. It is characterized by low levels of serum magnesium alongside with a normal renal magnesium secretion, secondary hypocalcemia and calcinocis. Affected individuals show neurologic symptoms of hypomagnesemic hypocalcemia, including seizures and muscle spasms, during infancy. Hypocalcemia is secondary to parathyroid failure resulting from magnesium deficiency. Untreated, the disorder may be fatal or may result in neurological damage. ","keywords":"KW-0982:Primary hypomagnesemia.; "},{"identifier":"Hypomagnesemia 2.","acronym":"HOMG2.","accession":"DI-00577","synonyms":"Dominant renal hypomagnesemia.; Hypomagnesemia with hypocalciuria.; Isolated renal magnesium loss.; Renal hypomagnesemia 2.; Renal magnesium wasting.; ","cross_references":"MeSH; D015499.","definition":"A disorder due to primary renal wasting of magnesium. Plasma levels of other electrolytes are normal. The only abnormality found, in addition to low magnesium levels, is lowered renal excretion of calcium resulting in hypocalciuria. ","keywords":"KW-0982:Primary hypomagnesemia.; "},{"identifier":"Hypomagnesemia 3.","acronym":"HOMG3.","accession":"DI-00578","synonyms":"Familial hypomagnesemia with hypercalciuria and nephrocalcinosis.; FHHNC.; HHN.; Renal hypomagnesemia hypercalciuria nephrocalcinosis.; ","cross_references":"MeSH; D053565.","definition":"A progressive renal disease characterized by primary renal magnesium wasting with hypomagnesemia, hypercalciuria and nephrocalcinosis. Recurrent urinary tract infections and kidney stones are often observed. In spite of hypercalciuria, patients do not show hypocalcemia. ","keywords":"KW-0982:Primary hypomagnesemia.; "},{"identifier":"Hypomagnesemia 4.","acronym":"HOMG4.","accession":"DI-00579","synonyms":"Renal hypomagnesemia normocalciuric.; ","cross_references":"MeSH; D015499.","definition":"A disorder characterized by massive renal hypomagnesemia and normal levels of serum calcium and calcium excretion. Clinical features include seizures, mild-to moderate psychomotor retardation, and brisk tendon reflexes. ","keywords":"KW-0982:Primary hypomagnesemia.; "},{"identifier":"Hypomagnesemia 5, renal, with or without ocular involvement.","acronym":"HOMG5.","accession":"DI-00575","synonyms":"Familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement.; FHHNC with severe ocular involvement.; Hypomagnesemia 5.; Hypomagnesemia 5 renal with ocular involvement.; Hypomagnesemia renal with ocular involvement.; Macular coloboma bilateral with hypercalciuria.; ","cross_references":"MeSH; D053565.","definition":"A progressive renal disease characterized by primary renal magnesium wasting with hypomagnesemia, hypercalciuria and nephrocalcinosis associated with severe ocular abnormalities such as bilateral chorioretinal scars, macular colobomata, significant myopia and nystagmus. The renal phenotype is virtually undistinguishable from that of patients with HOMG3. ","keywords":"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":"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, seizures, and impaired intellectual development 1.","acronym":"HOMGSMR1.","accession":"DI-04456","synonyms":null,"cross_references":"MeSH; D015499.","definition":"A disease characterized by renal wasting of magnesium, low serum magnesium, seizures, and variable degrees of delayed psychomotor development. ","keywords":"KW-0887:Epilepsy.; KW-0982:Primary hypomagnesemia.; KW-0991:Intellectual disability.; "},{"identifier":"Hypomagnesemia, seizures, and impaired intellectual development 2.","acronym":"HOMGSMR2.","accession":"DI-05475","synonyms":null,"cross_references":"MeSH; D015499.","definition":"An autosomal dominant disease characterized by generalized seizures in infancy, severe hypomagnesemia, and renal magnesium wasting. Seizures persist despite magnesium supplementation and are associated with significant intellectual disability. ","keywords":"KW-0887:Epilepsy.; KW-0982:Primary hypomagnesemia.; KW-0991:Intellectual disability.; "},{"identifier":"Hypomyelination with brainstem and spinal cord involvement and leg spasticity.","acronym":"HBSL.","accession":"DI-03775","synonyms":null,"cross_references":"MeSH; D020279.","definition":"An autosomal recessive leukoencephalopathy characterized by onset in the first year of life of severe spasticity, mainly affecting the lower limbs and resulting in an inability to achieve independent ambulation. Affected individuals show delayed motor development and nystagmus; some may have mild intellectual disability. Brain MRI shows hypomyelination and white matter lesions in the cerebrum, brainstem, cerebellum, and spinal cord. ","keywords":null},{"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":"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":"Hypoparathyroidism-retardation-dysmorphism syndrome.","acronym":"HRDS.","accession":"DI-01793","synonyms":"Sanjad-Sakati syndrome.; ","cross_references":"MeSH; D010009.","definition":"An autosomal recessive multisystem disorder characterized by hypoparathyroidism, intrauterine and postnatal growth retardation, psychomotor retardation, epilepsy, microcephaly, and facial dysmorphism. ","keywords":"KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "},{"identifier":"Hypoparathyroidism, sensorineural deafness, and renal disease.","acronym":"HDR.","accession":"DI-01792","synonyms":"Barakat syndrome.; Hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome.; Nephrosis, nerve deafness, and hypoparathyroidism.; ","cross_references":"MeSH; D009401.","definition":"A disease characterized by steroid-resistant nephrosis with progressive renal failure, hypoparathyroidism, sensorineural deafness, and renal dysplasia. ","keywords":"KW-0209:Deafness.; "},{"identifier":"Hypoparathyroidism, X-linked.","acronym":"HYPX.","accession":"DI-05492","synonyms":null,"cross_references":"MeSH; D007011.","definition":"An X-linked form of true hypoparathyroidism characterized by neonatal or infantile onset and absence of parathyroid glands. Clinical features are hypocalcemia, hyperphosphatemia, seizures, tetany and cramps. ","keywords":null},{"identifier":"Hypophosphatasia.","acronym":"HOPS.","accession":"DI-01796","synonyms":"HPPA.; Hypophosphatasia, adult.; Hypophosphatasia, mild.; ","cross_references":"MeSH; D007014.","definition":"A metabolic bone disease characterized by defective skeletal mineralization and biochemically by deficient activity of the tissue non-specific isoenzyme of alkaline phosphatase. Four forms are distinguished, depending on the age of onset: perinatal, infantile, childhood and adult type. The perinatal form is the most severe and is almost always fatal. The adult form is mild and characterized by recurrent fractures, osteomalacia, rickets, and loss of teeth. Some cases are asymptomatic, while some patients manifest dental features without skeletal manifestations (odontohypophosphatasia). ","keywords":null}]}