{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2940&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2900&ordering=-synonyms","results":[{"identifier":"Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies.","acronym":"IDNADFS.","accession":"DI-05672","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal dominant disorder characterized by delayed development, speech delay with nasal speech, and characteristic facial features including upslanted palpebral fissures, anteverted nares, a thin upper lip, and micrognathia. Some patients may have skeletal anomalies, such as brachydactyly, toe syndactyly and flat feet. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Hypogonadotropic hypogonadism 20 with or without anosmia.","acronym":"HH20.","accession":"DI-03771","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 21 with or without anosmia.","acronym":"HH21.","accession":"DI-03772","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 22 with or without anosmia.","acronym":"HH22.","accession":"DI-04228","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":"Microcephaly, epilepsy, and diabetes syndrome 2.","acronym":"MEDS2.","accession":"DI-06083","synonyms":null,"cross_references":"MeSH; D008831.","definition":"An autosomal recessive disorder characterized by neonatal or early- onset diabetes, severe microcephaly, and epilepsy. ","keywords":"KW-0219:Diabetes mellitus.; KW-0887:Epilepsy.; "},{"identifier":"Joubert syndrome 21.","acronym":"JBTS21.","accession":"DI-04019","synonyms":null,"cross_references":"MeSH; D052177.","definition":"A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. ","keywords":"KW-0979:Joubert syndrome.; "},{"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.; "},{"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 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":"Acromicric dysplasia.","acronym":"ACMICD.","accession":"DI-03225","synonyms":null,"cross_references":"MeSH; D001848.","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 distinct facial features, including round face, well- defined eyebrows, long eyelashes, bulbous nose with anteverted nostrils, long and prominent philtrum, and thick lips with a small mouth. Other characteristic features include hoarse voice and pseudomuscular build, and there are distinct skeletal features as well, including an internal notch of the femoral head, internal notch of the second metacarpal, and external notch of the fifth metacarpal. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Lymphatic malformation 10.","acronym":"LMPHM10.","accession":"DI-06134","synonyms":null,"cross_references":"MeSH; D008209.","definition":"A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Patients with lymphedema may suffer from recurrent local infections. LMPHM10 is an autosomal dominant form characterized by the onset of swelling in the lower extremities within the first year of life. Lymphedema may also occur in the neck, upper extremities, and scrotum or labia majora. Gradual resorption generally occurs, although some patients may experience progression complicated by cellulitis. Incomplete penetrance has been observed in some families. ","keywords":null},{"identifier":"Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive.","acronym":"CMS7B.","accession":"DI-06179","synonyms":null,"cross_references":"MeSH; D020294.","definition":"An autosomal recessive form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness. CMS7B is characterized by defects at the pre-synaptic neuromuscular junction and severe generalized muscle weakness apparent from birth. Decreased fetal movements may be apparent in utero. Affected infants have generalized hypotonia, head lag, and facial muscle weakness with ptosis. Some patients may have respiratory involvement. ","keywords":"KW-1004:Congenital myasthenic syndrome.; "},{"identifier":"Intellectual developmental disorder with language impairment and with or without autistic features.","acronym":"MRLIAF.","accession":"DI-02984","synonyms":null,"cross_references":"MeSH; D008607.","definition":"A developmental disorder characterized by mild to moderate intellectual disability, language impairment, and autistic features in some patients. Patients show global delay, delayed walking, severely delayed speech development, and behavioral abnormalities, including irritability, hyperactivity, aggression, and stereotypical rigid behaviors. ","keywords":"KW-0991:Intellectual disability.; "},{"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":"Calcification of joints and arteries.","acronym":"CALJA.","accession":"DI-03016","synonyms":null,"cross_references":"MeSH; D002114.","definition":"A condition characterized by adult-onset calcification of the lower extremity arteries, including the iliac, femoral and tibial arteries, and hand and foot capsule joints. Age of onset has been reported as early as the second decade of life, usually involving intense joint pain or calcification in the hands. ","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":"Spermatogenic failure 8.","acronym":"SPGF8.","accession":"DI-03124","synonyms":null,"cross_references":"MeSH; D007248.","definition":"An infertility disorder characterized by spermatogenesis failure and severe oligozoospermia. ","keywords":null}]}