{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2480&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2440&ordering=-synonyms","results":[{"identifier":"Combined oxidative phosphorylation deficiency 17.","acronym":"COXPD17.","accession":"DI-03913","synonyms":null,"cross_references":"MeSH; D028361.","definition":"An autosomal recessive disorder of mitochondrial dysfunction characterized by onset of severe hypertrophic cardiomyopathy in the first year of life. Other features include hypotonia, poor growth, lactic acidosis, and failure to thrive. The disorder may be fatal in early childhood. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Hypogonadotropic hypogonadism 10 with or without anosmia.","acronym":"HH10.","accession":"DI-03570","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":"Combined oxidative phosphorylation deficiency 18.","acronym":"COXPD18.","accession":"DI-03996","synonyms":null,"cross_references":"MeSH; D028361.","definition":"An autosomal recessive disorder of mitochondrial dysfunction characterized by intrauterine growth retardation, hypotonia, visual impairment, speech delay, and lactic acidosis associated with decreased mitochondrial respiratory chain activity. Affected patients may also show hematologic abnormalities, mainly macrocytic anemia. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Gallbladder disease 4.","acronym":"GBD4.","accession":"DI-02886","synonyms":null,"cross_references":"MeSH; D005705.","definition":"One of the major digestive diseases. Gallstones composed of cholesterol (cholelithiasis) are the common manifestations in western countries. Most people with gallstones, however, remain asymptomatic through their lifetimes. ","keywords":null},{"identifier":"Combined oxidative phosphorylation deficiency 19.","acronym":"COXPD19.","accession":"DI-04002","synonyms":null,"cross_references":"MeSH; D028361.","definition":"A mitochondrial disorder characterized by respiratory distress, hypotonia, and severe lactic acidosis in the newborn period. Other features include gastroesophageal reflux and elevated liver enzymes with normal synthetic function. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Galloway-Mowat syndrome 10.","acronym":"GAMOS10.","accession":"DI-06184","synonyms":null,"cross_references":"MeSH; D009422.","definition":"A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, and micrognathia. Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. GAMOS10 is an autosomal recessive form with fatal outcome. Patients manifest congenital hypothyroidism in addition to neurologic, renal and dysmorphic features. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Galloway-Mowat syndrome 2, X-linked.","acronym":"GAMOS2.","accession":"DI-05105","synonyms":null,"cross_references":"MeSH; D009422.","definition":"A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, hypertelorism and micrognathia. Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Galloway-Mowat syndrome 3.","acronym":"GAMOS3.","accession":"DI-05106","synonyms":null,"cross_references":"MeSH; D009422.","definition":"A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, hypertelorism and micrognathia. Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Galloway-Mowat syndrome 4.","acronym":"GAMOS4.","accession":"DI-05107","synonyms":null,"cross_references":"MeSH; D009422.","definition":"A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, hypertelorism and micrognathia. Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Gilbert syndrome.","acronym":"GILBS.","accession":"DI-01659","synonyms":null,"cross_references":"MedGen; C0017551.","definition":"Occurs as a consequence of reduced bilirubin transferase activity and is often detected in young adults with vague non-specific complaints. ","keywords":null},{"identifier":"Gilles de la Tourette syndrome.","acronym":"GTS.","accession":"DI-01660","synonyms":null,"cross_references":"MedGen; C1392622.","definition":"Neurologic disorder manifested particularly by motor and vocal tics and associated with behavioral abnormalities. ","keywords":null},{"identifier":"Galloway-Mowat syndrome 5.","acronym":"GAMOS5.","accession":"DI-05108","synonyms":null,"cross_references":"MeSH; D009422.","definition":"A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, hypertelorism and micrognathia. Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Galloway-Mowat syndrome 6.","acronym":"GAMOS6.","accession":"DI-05498","synonyms":null,"cross_references":"MeSH; D009422.","definition":"A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, hypertelorism and micrognathia. Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. GAMOS6 is an autosomal recessive form with onset in infancy or early childhood. Affected individuals manifest microcephaly, global developmental delay, variable degrees of intellectual disability, and growth deficiency. Renal impairment may be age-dependent or may not be present. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Galloway-Mowat syndrome 7.","acronym":"GAMOS7.","accession":"DI-05499","synonyms":null,"cross_references":"MeSH; D009422.","definition":"A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, hypertelorism and micrognathia. Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. GAMOS7 inheritance is autosomal recessive. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Galloway-Mowat syndrome 8.","acronym":"GAMOS8.","accession":"DI-05500","synonyms":null,"cross_references":"MeSH; D009422.","definition":"A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, hypertelorism and micrognathia. Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. GAMOS8 inheritance is autosomal recessive. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Galloway-Mowat syndrome 9.","acronym":"GAMOS9.","accession":"DI-06183","synonyms":null,"cross_references":"MeSH; D009422.","definition":"A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, and micrognathia. Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. GAMOS9 inheritance is autosomal recessive. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Combined oxidative phosphorylation deficiency 24.","acronym":"COXPD24.","accession":"DI-04330","synonyms":null,"cross_references":"MeSH; D028361.","definition":"An autosomal recessive mitochondrial disorder with wide phenotypic variability. Some patients have a milder form affecting only skeletal muscle, whereas others may have a more severe disorder, reminiscent of Alpers syndrome. Alpers syndrome is a progressive neurodegenerative disorder that presents in infancy or early childhood and is characterized by diffuse degeneration of cerebral gray matter. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"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":"Garg-Mishra progeroid syndrome.","acronym":"GMPGS.","accession":"DI-06792","synonyms":null,"cross_references":"MeSH; D019588.","definition":"An autosomal recessive syndrome characterized by a progeroid appearance, severe dwarfism, mandibular hypoplasia, hyperopia, and partial lipodystrophy. ","keywords":null},{"identifier":"Polydactyly, postaxial B.","acronym":"PAPB.","accession":"DI-03100","synonyms":null,"cross_references":"MeSH; D017689.","definition":"A condition characterized by an extra digit in the occurrence of supernumerary digits in the upper and/or lower extremities. In postaxial polydactyly type B the extra digit is not well formed and is frequently in the form of a skin. ","keywords":null}]}