{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1920","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1880","results":[{"identifier":"Developmental delay with variable intellectual impairment and behavioral abnormalities.","acronym":"DDVIBA.","accession":"DI-05566","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal dominant disorder characterized by impaired intellectual development with speech difficulties, dysmorphic features, and behavioral abnormalities including autism spectrum disorder, attention deficit and hyperactivity. Additional variable features may include hypotonia, somatic overgrowth, macrocephaly, mild distal skeletal anomalies, sleep disturbances, movement disorders, and gastrointestinal issues, such as constipation. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Developmental delay with variable neurologic and brain abnormalities.","acronym":"DENBA.","accession":"DI-06311","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal dominant disorder characterized by onset of motor and speech delay in early childhood. Disease severity and clinical manifestations are highly variable. Most patients have delayed walking and variably impaired intellectual development. Additional features may include seizures, spasticity, and ocular abnormalities. Brain imaging often shows thin corpus callosum and may show white matter atrophy, myelination abnormalities, or enlarged ventricles. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Developmental dysplasia of the hip 3.","acronym":"DDH3.","accession":"DI-06830","synonyms":null,"cross_references":"MeSH; D000082602.","definition":"An autosomal dominant form of congenital dysplasia of the hip, a common skeletal anomaly in which the normal seating of the femoral head in the acetabulum is disrupted. Its severity ranges from mild instability of the femoral head with slight capsular laxity, permitting minimal lateral displacement, through moderate lateral displacement of the femoral head, without loss of contact of the head with the acetabulum, up to complete dislocation of the femoral head from the acetabulum. ","keywords":null},{"identifier":"D-glyceric aciduria.","acronym":"D-GA.","accession":"DI-03131","synonyms":"D-glyceric acidemia.; Glycerate kinase deficiency.; ","cross_references":"MeSH; D008661.","definition":"A rare metabolic disease characterized by chronic metabolic acidosis and a highly variable clinical phenotype. Clinical features range from an encephalopathic presentation with seizures, microcephaly, severe intellectual disability and early death, to milder manifestations with only speech delay or even normal development. ","keywords":null},{"identifier":"Diabetes, deafness, developmental delay, and short stature syndrome.","acronym":"DDDS.","accession":"DI-06812","synonyms":null,"cross_references":"MeSH; D006319.","definition":"An autosomal recessive, multisystem disorder characterized by childhood-onset non-autoimmune diabetes mellitus, short stature, bilateral sensorineural deafness, developmental delay, mildly impaired intellectual development, and microcephaly. ","keywords":"KW-0209:Deafness.; KW-0219:Diabetes mellitus.; KW-0242:Dwarfism.; "},{"identifier":"Diabetes insipidus, nephrogenic, 1, X-linked.","acronym":"NDI1.","accession":"DI-00391","synonyms":"Diabetes insipidus nephrogenic type 1.; NDI.; ","cross_references":"MeSH; D018500.","definition":"A disorder caused by the inability of the renal collecting ducts to absorb water in response to arginine vasopressin. Characterized by excessive water drinking (polydipsia), excessive urine excretion (polyuria), persistent hypotonic urine, and hypokalemia. ","keywords":"KW-0218:Diabetes insipidus.; "},{"identifier":"Diabetes insipidus, nephrogenic, 2, autosomal.","acronym":"NDI2.","accession":"DI-00390","synonyms":"Diabetes insipidus nephrogenic type 2.; ","cross_references":"MeSH; D018500.","definition":"A disorder caused by the inability of the renal collecting ducts to absorb water in response to arginine vasopressin. Characterized by excessive water drinking (polydipsia), excessive urine excretion (polyuria), persistent hypotonic urine, and hypokalemia. Inheritance can be autosomal dominant or recessive. ","keywords":"KW-0218:Diabetes insipidus.; "},{"identifier":"Diabetes insipidus, neurohypophyseal.","acronym":"NDI.","accession":"DI-01217","synonyms":"CDI.; Diabetes insipidus cranial type.; Neurogenic diabetes insipidus.; Primary central diabetes insipidus.; ","cross_references":"MeSH; D020790.","definition":"A disease characterized by persistent thirst, polydipsia and polyuria. Affected individuals are apparently normal at birth, but characteristically develop symptoms of vasopressin deficiency during childhood. ","keywords":"KW-0218:Diabetes insipidus.; "},{"identifier":"Diabetes mellitus, ketosis-prone.","acronym":"KPD.","accession":"DI-02784","synonyms":null,"cross_references":"MeSH; D003920.","definition":"An atypical form of diabetes mellitus characterized by an acute initial presentation with severe hyperglycemia and ketosis, as seen in classic type 1 diabetes, but after initiation of insulin therapy, prolonged remission is often possible with cessation of insulin therapy and maintenance of appropriate metabolic control. Metabolic studies show a markedly blunted insulin secretory response to glucose, partially reversible with the improvement of blood glucose control. Variable levels of insulin resistance are observed, especially in obese patients. Pancreatic beta-cell autoimmunity is a rare finding. ","keywords":"KW-0219:Diabetes mellitus.; "},{"identifier":"Diabetes mellitus, neonatal, with congenital hypothyroidism.","acronym":"NDH.","accession":"DI-02031","synonyms":"NDH syndrome.; ","cross_references":"MeSH; D003920.","definition":"A syndrome of neonatal diabetes syndrome associated with congenital hypothyroidism, congenital glaucoma, hepatic fibrosis and polycystic kidneys. ","keywords":"KW-0219:Diabetes mellitus.; KW-0984:Congenital hypothyroidism.; "},{"identifier":"Diabetes mellitus, permanent neonatal, 1.","acronym":"PNDM1.","accession":"DI-02152","synonyms":"DEND.; Developmental delay epilepsy and neonatal diabetes.; Diabetes mellitus permanent neonatal with neurologic features.; PDMI.; Permanent diabetes mellitus of infancy.; ","cross_references":"MeSH; D003920.","definition":"An autosomal recessive form of permanent neonatal diabetes mellitus, a type of diabetes characterized by onset of persistent hyperglycemia within the first six months of life. Initial clinical manifestations include intrauterine growth retardation, hyperglycemia, glycosuria, osmotic polyuria, severe dehydration, and failure to thrive. ","keywords":"KW-0219:Diabetes mellitus.; "},{"identifier":"Diabetes mellitus, permanent neonatal, 2.","acronym":"PNDM2.","accession":"DI-05823","synonyms":"DEND1.; Developmental delay, epilepsy, and neonatal diabetes 1.; Diabetes, permanent neonatal 2, with or without neurologic features.; ","cross_references":"MeSH; D003920.","definition":"A form of permanent neonatal diabetes mellitus, a type of diabetes characterized by onset of persistent hyperglycemia within the first six months of life. Initial clinical manifestations include intrauterine growth retardation, hyperglycemia, glycosuria, osmotic polyuria, severe dehydration, and failure to thrive. Some PNDM2 patients may also have developmental delay, muscle weakness, epilepsy and dysmorphic features. PNDM2 transmission pattern is consistent with autosomal dominant inheritance. ","keywords":"KW-0219:Diabetes mellitus.; "},{"identifier":"Diabetes mellitus, permanent neonatal, 3.","acronym":"PNDM3.","accession":"DI-05824","synonyms":"DEND2.; Developmental delay, epilepsy, and neonatal diabetes 2.; Diabetes, permanent neonatal 3, with or without neurologic features.; ","cross_references":"MeSH; D003920.","definition":"A form of permanent neonatal diabetes mellitus, a type of diabetes characterized by onset of persistent hyperglycemia within the first six months of life. Initial clinical manifestations include intrauterine growth retardation, hyperglycemia, glycosuria, osmotic polyuria, severe dehydration, and failure to thrive. Some PNDM3 patients may also have developmental delay, muscle weakness, and epilepsy. PNDM3 transmission pattern is consistent with autosomal dominant or autosomal recessive inheritance. ","keywords":"KW-0219:Diabetes mellitus.; "},{"identifier":"Diabetes mellitus, permanent neonatal, 4.","acronym":"PNDM4.","accession":"DI-05825","synonyms":null,"cross_references":"MeSH; D003920.","definition":"A form of permanent neonatal diabetes mellitus, a type of diabetes characterized by onset of persistent hyperglycemia within the first six months of life. Initial clinical manifestations include intrauterine growth retardation, hyperglycemia, glycosuria, osmotic polyuria, severe dehydration, and failure to thrive. PNDM4 transmission pattern is consistent with autosomal dominant or autosomal recessive inheritance. ","keywords":"KW-0219:Diabetes mellitus.; "},{"identifier":"Diabetes mellitus, transient neonatal, 1.","acronym":"TNDM1.","accession":"DI-02380","synonyms":"6q24-related diabetes mellitus.; ","cross_references":"MeSH; D003920.","definition":"An autosomal dominant form of diabetes mellitus defined by the onset of mild-to-severe hyperglycemia within the first month of life. In about half of the neonates, diabetes is transient and resolves at a median age of 3 months, whereas the rest have a permanent form of diabetes. ","keywords":"KW-0219:Diabetes mellitus.; "},{"identifier":"Diamond-Blackfan anemia 1.","acronym":"DBA1.","accession":"DI-00392","synonyms":"Aase-Smith syndrome II.; Aase syndrome.; BDS.; Blackfan-Diamond syndrome.; Chronic congenital aregenerative anemia.; Congenital erythroid hypoplastic anemia.; Congenital hypoplastic anemia of Blackfan and Diamond.; DBA.; Erythrogenesis imperfecta.; Pure hereditary red cell aplasia.; ","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 developing leukemia. 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":"Diamond-Blackfan anemia 10.","acronym":"DBA10.","accession":"DI-02685","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":"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":"Diamond-Blackfan anemia 12.","acronym":"DBA12.","accession":"DI-03972","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":"Diamond-Blackfan anemia 13.","acronym":"DBA13.","accession":"DI-04161","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.; "}]}