{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5560&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5520&ordering=synonyms","results":[{"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":"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":"B-cell expansion with NFKB and T-cell anergy.","acronym":"BENTA.","accession":"DI-04476","synonyms":null,"cross_references":"MeSH; D008218.","definition":"An autosomal dominant condition characterized by onset in infancy of splenomegaly and polyclonal expansion of B cells, resulting in peripheral lymphocytosis. Affected individuals also show mild immune dysfunction, including some defective antibody responses and T-cell anergy. There may be a predisposition to the development of B-cell malignancy. ","keywords":null},{"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 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":"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":"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":"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":"Azoospermia, obstructive, with nephrolithiasis.","acronym":"OAZON.","accession":"DI-06054","synonyms":null,"cross_references":"MeSH; D053040.","definition":"An X-linked recessive, male infertility disorder characterized by epidydimal obstruction, hypercalciuria and kidney stones. ","keywords":null},{"identifier":"Ayme-Gripp syndrome.","acronym":"AYGRP.","accession":"DI-04468","synonyms":null,"cross_references":"MeSH; D019066.","definition":"A multisystem disorder characterized by congenital cataracts, sensorineural deafness, intellectual disability, seizures, brachycephaly, distinctive flat facial appearance, skeletal anomalies, mammary gland hypoplasia, and reduced growth. ","keywords":"KW-0209:Deafness.; KW-0242:Dwarfism.; KW-0898:Cataract.; KW-0991:Intellectual disability.; "},{"identifier":"Hypophosphatemic rickets, X-linked recessive.","acronym":"XLHRR.","accession":"DI-00574","synonyms":null,"cross_references":"MeSH; D053098.","definition":"A renal disease belonging to the 'Dent disease complex', a group of disorders characterized by proximal renal tubular defect, hypercalciuria, nephrocalcinosis, and renal insufficiency. The spectrum of phenotypic features is remarkably similar in the various disorders, except for differences in the severity of bone deformities and renal impairment. XLHRR patients present with rickets or osteomalacia, hypophosphatemia due to decreased renal tubular phosphate reabsorption, hypercalciuria, and low molecular weight proteinuria. Patients develop nephrocalcinosis with progressive renal failure in adulthood. Female carriers may have asymptomatic hypercalciuria or hypophosphatemia only. ","keywords":null},{"identifier":"Hypopigmentation, organomegaly, and delayed myelination and development.","acronym":"HOD.","accession":"DI-05637","synonyms":null,"cross_references":"MeSH; D000015.","definition":"An autosomal dominant pleiotropic syndrome characterized by skin and hair hypopigmentation, growth and developmental delay, organomegaly including enlarged liver, spleen and kidneys, delayed brain myelination and developmental deficit in motor skills. Skin and liver biopsies show cellular accumulation of large intracellular vacuoles. ","keywords":null},{"identifier":"Hypoplastic femurs and pelvis.","acronym":"HYPOFP.","accession":"DI-06232","synonyms":null,"cross_references":"MeSH; D001848.","definition":"An autosomal dominant disorder characterized by isolated bilateral hypoplasia of the femoral and pelvic bones. ","keywords":null},{"identifier":"Hypoplastic left heart syndrome 1.","acronym":"HLHS1.","accession":"DI-01799","synonyms":null,"cross_references":"MeSH; D018636.","definition":"A syndrome due to defective development of the aorta proximal to the entrance of the ductus arteriosus, and hypoplasia of the left ventricle and mitral valve. As a result of the abnormal circulation, the ductus arteriosus and foramen ovale are patent and the right atrium, right ventricle, and pulmonary artery are enlarged. ","keywords":null},{"identifier":"Hypoplastic left heart syndrome 2.","acronym":"HLHS2.","accession":"DI-03342","synonyms":null,"cross_references":"MeSH; D018636.","definition":"A syndrome due to defective development of the aorta proximal to the entrance of the ductus arteriosus, and hypoplasia of the left ventricle and mitral valve. As a result of the abnormal circulation, the ductus arteriosus and foramen ovale are patent and the right atrium, right ventricle, and pulmonary artery are enlarged. ","keywords":null},{"identifier":"Hypospadias 1, X-linked.","acronym":"HYSP1.","accession":"DI-03834","synonyms":null,"cross_references":"MeSH; D007021.","definition":"A common malformation in which the urethra opens on the ventral side of the penis, due to developmental arrest of urethral fusion. The opening can be located glandular, penile, or even more posterior in the scrotum or perineum. Hypospadias is a feature of several syndromic disorders, including the androgen insensitivity syndrome and Opitz syndrome. ","keywords":null}]}