{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1800&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1760&ordering=-synonyms","results":[{"identifier":"Diamond-Blackfan anemia 11.","acronym":"DBA11.","accession":"DI-03608","synonyms":null,"cross_references":"MeSH; D029503.","definition":"A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond- Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre- Robin syndrome and cleft palate), thumb and urogenital anomalies. ","keywords":"KW-1024:Diamond-Blackfan anemia.; "},{"identifier":"Epilepsy, idiopathic generalized 18.","acronym":"EIG18.","accession":"DI-06223","synonyms":null,"cross_references":"MeSH; D004829.","definition":"An autosomal dominant form of idiopathic generalized epilepsy, a disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Seizure types include juvenile myoclonic seizures, absence seizures, and generalized tonic-clonic seizures. EIG18 is characterized by onset of myoclonic seizures in infancy. Although the seizures remit, some patients may have later speech or cognitive impairment. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Atrial septal defect 8.","acronym":"ASD8.","accession":"DI-03333","synonyms":null,"cross_references":"MeSH; D006344.","definition":"A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. ","keywords":"KW-0976:Atrial septal defect.; "},{"identifier":"Ectopia lentis et pupillae.","acronym":"ECTOLP.","accession":"DI-03690","synonyms":null,"cross_references":"MeSH; D011681.","definition":"An ocular abnormality characterized by displacement of the lenses and the pupils, associated with other ocular anomalies, but without systemic manifestations. The condition is usually bilateral, with the lenses and pupils displaced in opposite directions. Additional signs include enlarged corneal diameter, increased corneal astigmatism, increased anterior chamber depth, thinning and flattening of the iris with loss of crypts, angle malformation caused by enlarged iris processes, persistent pupillary membrane, loss of zonular fibers, tilted disk, and increased axial length. Secondary manifestations include refractive errors, glaucoma, early cataract development, and retinal detachment. Membrane formation on the posterior aspect of the iris has been observed both in histologic sections and on ultrasound biomicroscopy. ","keywords":null},{"identifier":"Denys-Drash syndrome.","acronym":"DDS.","accession":"DI-01480","synonyms":null,"cross_references":"MedGen; C0950121.","definition":"Typical nephropathy characterized by diffuse mesangial sclerosis, genital abnormalities, and/or Wilms tumor. There is phenotypic overlap with WAGR syndrome and Frasier syndrome. Inheritance is autosomal dominant, but most cases are sporadic. ","keywords":null},{"identifier":"Cataract 48.","acronym":"CTRCT48.","accession":"DI-05553","synonyms":null,"cross_references":"MeSH; D002386.","definition":"A form of cataract, 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. CTRCT48 is an autosomal recessive form characterized by infantile or early-childhood onset. ","keywords":"KW-0898:Cataract.; "},{"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.; "},{"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":"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":"Diamond-Blackfan anemia 9.","acronym":"DBA9.","accession":"DI-02684","synonyms":null,"cross_references":"MeSH; D029503.","definition":"A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond- Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre- Robin syndrome and cleft palate), thumb and urogenital anomalies. ","keywords":"KW-1024:Diamond-Blackfan anemia.; "},{"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":"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":"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":"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":"Developmental and epileptic encephalopathy 103.","acronym":"DEE103.","accession":"DI-06431","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. DEE103 is an autosomal dominant form characterized by onset of various types of seizures in the first year of life. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Developmental and epileptic encephalopathy 104.","acronym":"DEE104.","accession":"DI-06457","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. DEE104 is an autosomal dominant form characterized by onset of developmental delay and drug-resistant focal and generalized tonic-clonic seizures in the first few months of life. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Developmental and epileptic encephalopathy 105 with hypopituitarism.","acronym":"DEE105.","accession":"DI-06474","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. DEE105 is an autosomal recessive form characterized by onset of seizures in the first weeks or months of life. Affected individuals have hypopituitarism in association with profoundly impaired development with almost no acquisition of skills, brain atrophy, thin corpus callosum, and small pituitary gland. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Developmental and epileptic encephalopathy 106.","acronym":"DEE106.","accession":"DI-06501","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. DEE106 is an autosomal recessive form characterized by onset of seizures in the first year of life. Affected individuals have profound global developmental delay, limited ability to move, and severely impaired intellectual development with absent speech. Non- specific brain abnormalities may be observed on MRI. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Developmental and epileptic encephalopathy 107.","acronym":"DEE107.","accession":"DI-06502","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. DEE107 is an autosomal recessive form characterized by onset of seizures in the first months of life. Affected individuals have severe global developmental delay, profound intellectual disability, progressive microcephaly, and hypotonia. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Meckel syndrome 9.","acronym":"MKS9.","accession":"DI-03221","synonyms":null,"cross_references":"MeSH; D007690.","definition":"A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. ","keywords":"KW-0981:Meckel syndrome.; "}]}