{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=3860&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=3820&ordering=synonyms","results":[{"identifier":"Developmental and epileptic encephalopathy 102.","acronym":"DEE102.","accession":"DI-06430","synonyms":null,"cross_references":"MeSH; D013036.","definition":"A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE102 is an autosomal recessive form characterized by onset of variable types of seizures in infancy. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin.","acronym":"MNDLFH.","accession":"DI-06356","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal dominant disease characterized by pharyngeal lymphoid hypertrophy, with adenoid overgrowth, sleep apnea, macrocephaly without structural brain abnormalities, and impaired intellectual development. An increased fraction of fetal hemoglobin has been observed in some patients. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Developmental and epileptic encephalopathy 101.","acronym":"DEE101.","accession":"DI-06373","synonyms":null,"cross_references":"MeSH; D013036.","definition":"A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE101 is an autosomal recessive, severe form characterized by onset of seizures in early infancy. Death in infancy may occur. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Macrocephaly/megalencephaly syndrome, autosomal recessive.","acronym":"MGCPH.","accession":"DI-03993","synonyms":null,"cross_references":"MeSH; D058627.","definition":"An autosomal recessive disorder characterized by abnormal enlargement of the cerebral hemispheres, intellectual disability, large head, optic atrophy and underdeveloped skeletal musculature. Head enlargement may be evident at birth or the head may become abnormally large in the early years of life. Additional clinical features include behavioral abnormalities, psychosis, learning difficulties, prognathism, myopia and astigmatism. ","keywords":null},{"identifier":"Developmental and epileptic encephalopathy 100.","acronym":"DEE100.","accession":"DI-06361","synonyms":null,"cross_references":"MeSH; D013036.","definition":"A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE100 is an autosomal dominant, severe form characterized by global developmental delay and onset of variable types of seizures in the first months or years of life. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia.","acronym":"CAGSSS.","accession":"DI-04264","synonyms":null,"cross_references":"MeSH; D009477.","definition":"An autosomal recessive disorder characterized by cataracts, short- stature secondary to growth hormone deficiency, sensorineural hearing deficit, peripheral sensory neuropathy, skeletal dysplasia, scoliosis, and facial dysmorphism. ","keywords":"KW-0209:Deafness.; KW-0622:Neuropathy.; KW-0898:Cataract.; "},{"identifier":"Cataract, multiple types 19.","acronym":"CTRCT19.","accession":"DI-03783","synonyms":null,"cross_references":"MeSH; D002386.","definition":"An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. ","keywords":"KW-0898:Cataract.; "},{"identifier":"Atrioventricular septal defect 2.","acronym":"AVSD2.","accession":"DI-01195","synonyms":null,"cross_references":"MeSH; D004694.","definition":"A congenital heart malformation characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. The complete form involves underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum; the valve itself is also shared. A less severe form, known as ostium primum atrial septal defect, is characterized by separate atrioventricular valvar orifices despite a common junction. ","keywords":null},{"identifier":"Amelogenesis imperfecta 1J.","acronym":"AI1J.","accession":"DI-04931","synonyms":null,"cross_references":"MeSH; D000567.","definition":"A form of amelogenesis imperfecta, a disorder characterized by defective enamel formation. The enamel may be hypoplastic, hypomineralized or both, and affected teeth may be discoloured, sensitive or prone to disintegration. AI1J is an autosomal recessive form characterized by hypoplastic enamel, enamel discolorization ranging from yellow to black, and normal dentin. ","keywords":"KW-0986:Amelogenesis imperfecta.; "},{"identifier":"Macular degeneration, age-related, 10.","acronym":"ARMD10.","accession":"DI-00063","synonyms":null,"cross_references":"MeSH; D008268.","definition":"A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. ","keywords":"KW-0913:Age-related macular degeneration.; "},{"identifier":"Adiponectin deficiency.","acronym":"ADPOD.","accession":"DI-00041","synonyms":null,"cross_references":"MeSH; D009765.","definition":"An autosomal dominant condition characterized by very low concentrations of plasma adiponectin. Levels of adiponectin are decreased in obesity and may contribute to a chronic state of inflammation that leads to insulin resistance, type 2 diabetes, coronary artery disease, myocardial infarction, non-alcoholic steatohepatitis, and kidney disease. ","keywords":"KW-0219:Diabetes mellitus.; KW-0550:Obesity.; "},{"identifier":"Macular degeneration, age-related, 12.","acronym":"ARMD12.","accession":"DI-03063","synonyms":null,"cross_references":"MeSH; D008268.","definition":"A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. ","keywords":"KW-0913:Age-related macular degeneration.; "},{"identifier":"46,XY gonadal dysgenesis with minifascicular neuropathy.","acronym":"GDMN.","accession":"DI-02146","synonyms":null,"cross_references":"MeSH; D006061.","definition":"An autosomal recessive disorder characterized by gonadal dysgenesis associated with polyneuropathy. Genital anomalies include the presence of a testis on one side and a streak or an absent gonad at the other, persistence of Muellerian duct structures, and a variable degree of genital ambiguity. ","keywords":null},{"identifier":"Macular degeneration, age-related, 14.","acronym":"ARMD14.","accession":"DI-03919","synonyms":null,"cross_references":"MeSH; D008268.","definition":"A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. ","keywords":"KW-0913:Age-related macular degeneration.; "},{"identifier":"Klippel-Feil syndrome 3, autosomal dominant.","acronym":"KFS3.","accession":"DI-02973","synonyms":null,"cross_references":"MeSH; D007714.","definition":"A skeletal disorder characterized by congenital fusion of cervical vertebrae. It is due to a failure in the normal segmentation of vertebrae during the early weeks of fetal development. The clinical triad consists of short neck, low posterior hairline, and limited neck movement. ","keywords":null},{"identifier":"Chronic atrial and intestinal dysrhythmia.","acronym":"CAID.","accession":"DI-04314","synonyms":null,"cross_references":"MeSH; D012804.","definition":"A disease characterized by dysregulation of the cardiac sinus node resulting in sick sinus syndrome, in association with chronic intestinal pseudo-obstruction, a disorder of gastrointestinal motility in which intestinal obstruction occurs in the absence of a mechanical obstacle. ","keywords":null},{"identifier":"Kleefstra syndrome 2.","acronym":"KLEFS2.","accession":"DI-05142","synonyms":null,"cross_references":"MeSH; D065886.","definition":"A form of Kleefstra syndrome, an autosomal dominant disease characterized by variable intellectual disability, psychomotor developmental delay, seizures, behavioral abnormalities, and facial dysmorphisms. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Macular degeneration, age-related, 4.","acronym":"ARMD4.","accession":"DI-00058","synonyms":null,"cross_references":"MeSH; D008268.","definition":"A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. ","keywords":"KW-0913:Age-related macular degeneration.; "},{"identifier":"DeSanto-Shinawi syndrome.","acronym":"DESSH.","accession":"DI-04620","synonyms":null,"cross_references":"MeSH; D000015.","definition":"An autosomal dominant syndrome characterized by developmental delay, hypotonia, behavioral problems, eye abnormalities, constipation, feeding difficulties, seizures and sleep problems. Patients exhibit dysmorphic features, including broad/prominent forehead, synophrys and/or bushy eyebrows, depressed nasal bridge and bulbous nasal tip. Additional variable features are posteriorly rotated ears, hirsutism, deep-set eyes, thin upper lip, inverted nipples, hearing loss and branchial cleft anomalies. ","keywords":null},{"identifier":"Dermatopathia pigmentosa reticularis.","acronym":"DPR.","accession":"DI-00388","synonyms":null,"cross_references":"MeSH; D004476.","definition":"A rare ectodermal dysplasia characterized by lifelong persistent reticulate hyperpigmentation, non-cicatricial alopecia, and nail dystrophy. Variable features include adermatoglyphia, hypohidrosis or hyperhidrosis, and palmoplantar hyperkeratosis. ","keywords":"KW-0038:Ectodermal dysplasia.; "}]}