{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5160&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5120&ordering=-synonyms","results":[{"identifier":"Osteoarthritis 2.","acronym":"OS2.","accession":"DI-02642","synonyms":"DIPOA.; Hand osteoarthritis.; Heberden nodes.; HOA.; OADIP.; Osteoarthritis of distal interphalangeal joints.; ","cross_references":"MeSH; D010003.","definition":"A degenerative disease of the joints characterized by degradation of the hyaline articular cartilage and remodeling of the subchondral bone with sclerosis. Clinical symptoms include pain and joint stiffness often leading to significant disability and joint replacement. In the hand, osteoarthritis can develop in the distal interphalangeal and the first carpometacarpal (base of thumb) and proximal interphalangeal joints. Patients with osteoarthritis may have one, a few, or all of these sites affected. ","keywords":null},{"identifier":"Developmental delay with short stature, dysmorphic facial features, and sparse hair 2.","acronym":"DEDSSH2.","accession":"DI-06516","synonyms":"Diphthamide deficiency syndrome 2.; ","cross_references":"MeSH; D008607.","definition":"An autosomal recessive syndrome characterized by developmental delay with variably impaired intellectual development and speech delay, short stature, abnormal head circumference, dysmorphic facial features, and sparse scalp hair. Affected individuals may have other abnormalities, including congenital cardiac defects and distal skeletal anomalies. ","keywords":"KW-0242:Dwarfism.; KW-0991:Intellectual disability.; KW-1063:Hypotrichosis.; "},{"identifier":"Developmental delay with short stature, dysmorphic facial features, and sparse hair 1.","acronym":"DEDSSH1.","accession":"DI-04703","synonyms":"Diphthamide deficiency syndrome 1.; Loucks-Innes syndrome.; ","cross_references":"MeSH; D008607.","definition":"An autosomal recessive syndrome characterized by intellectual disability, short stature, and craniofacial and ectodermal anomalies including scaphocephaly with or without craniosynostosis, prominent forehead, sparse eyebrows and hair, hypoplastic toenails and, in some cases, dental anomalies. ","keywords":"KW-0038:Ectodermal dysplasia.; KW-0242:Dwarfism.; KW-0991:Intellectual disability.; KW-1063:Hypotrichosis.; "},{"identifier":"Cardiomyopathy, dilated, 1O.","acronym":"CMD1O.","accession":"DI-00221","synonyms":"Dilated cardiomyopathy with ventricular tachycardia.; ","cross_references":"MeSH; D002311.","definition":"A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ","keywords":"KW-0122:Cardiomyopathy.; "},{"identifier":"Cardiomyopathy, dilated, 1X.","acronym":"CMD1X.","accession":"DI-00227","synonyms":"Dilated cardiomyopathy with mild or no proximal muscle weakness.; ","cross_references":"MeSH; D002311.","definition":"A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ","keywords":"KW-0122:Cardiomyopathy.; "},{"identifier":"Dihydropyrimidinase deficiency.","acronym":"DPYSD.","accession":"DI-01483","synonyms":"Dihydropyrimidinuria due to DPYS deficiency.; DPH deficiency.; DPYS deficiency.; ","cross_references":"MeSH; D011686.","definition":"An autosomal recessive disorder of pyrimidine metabolism characterized by dihydropyrimidinuria. It is associated with a variable clinical phenotype characterized by epileptic or convulsive attacks, dysmorphic features and severe developmental delay, and congenital microvillous atrophy. Most patients are, however, asymptomatic. ","keywords":null},{"identifier":"Dihydropyrimidine dehydrogenase deficiency.","acronym":"DPYDD.","accession":"DI-01488","synonyms":"Dihydropyrimidinuria.; DPD deficiency.; DPYD deficiency.; Familial pyrimidinemia.; Hereditary thymine-uraciluria.; ","cross_references":"MeSH; D054067.","definition":"A metabolic disorder with large phenotypic variability, ranging from no symptoms to a convulsive disorder with motor and intellectual disability. It is characterized by persistent urinary excretion of excessive amounts of uracil, thymine and 5-hydroxymethyluracil. Patients suffering from this disease show a severe reaction to the anticancer drug 5-fluorouracil. ","keywords":null},{"identifier":"Erythroleukemia, familial.","acronym":"FERLK.","accession":"DI-05396","synonyms":"DI Guglielmo disease, familial.; Leukemia, acute myelogenous, M6.; ","cross_references":"MeSH; D004915.","definition":"An autosomal dominant myeloproliferative disorder characterized by neoplastic proliferation of erythroblastic and myeloblastic elements with atypical erythroblasts and myeloblasts in the peripheral blood. Disease penetrance is incomplete. ","keywords":null},{"identifier":"Terminal osseous dysplasia.","acronym":"TOD.","accession":"DI-02914","synonyms":"Digital osseous dysplasia with facial pigmentary defects and multiple frenula.; ODPD.; ODPF.; ODPF syndrome.; Osseous dysplasia and pigmentary defects.; Terminal osseous dysplasia and pigmentary defects.; TODPD.; ","cross_references":"MeSH; D001848.","definition":"A rare X-linked dominant male-lethal disease characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin and recurrent digital fibroma during infancy. A significant phenotypic variability is observed in affected females. ","keywords":null},{"identifier":"Feingold syndrome 1.","acronym":"FGLDS1.","accession":"DI-01612","synonyms":"Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum.; Microcephaly-oculo-digito-esophageal-duodenal syndrome.; MMT syndrome.; MODED.; Oculodigitoesophagoduodenal syndrome.; ODED.; ","cross_references":"MeSH; D017880.","definition":"A syndrome characterized by variable combinations of esophageal and duodenal atresias, microcephaly, learning disability, intellectual disability, and limb malformations. Hand and foot abnormalities may include hypoplastic thumbs, clinodactyly of second and fifth fingers, syndactyly (characteristically between second and third and fourth and fifth toes), and shortened or absent middle phalanges. Cardiac and renal malformations, vertebral anomalies, and deafness have also been described. ","keywords":null},{"identifier":"Facioscapulohumeral muscular dystrophy 2, digenic.","acronym":"FSHD2.","accession":"DI-03604","synonyms":"Digenic facioscapulohumeral muscular dystrophy.; Digenic FSHD2.; Facioscapulohumeral muscular dystrophy type 1B.; FSHD1B.; ","cross_references":"MeSH; D020391.","definition":"A degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles. ","keywords":null},{"identifier":"Lysinuric protein intolerance.","acronym":"LPI.","accession":"DI-01920","synonyms":"Dibasic amino aciduria II.; ","cross_references":"MeSH; D000592.","definition":"A metabolic disorder characterized by increased renal excretion of cationic amino acid (CAA), reduced CAA absorption from intestine, and orotic aciduria. On a normal diet, LPI patients present poor feeding, vomiting, diarrhea, episodes of hyperammoniaemic coma and growth retardation. Hepatosplenomegaly, osteoporosis and a life-threatening pulmonary involvement (alveolar proteinosis) are also seen. Biochemically LPI is characterized by defective transport of dibasic amino acids at the basolateral membrane of epithelial cells in kidney and intestine. ","keywords":"KW-1285:Osteoporosis.; "},{"identifier":"Intellectual developmental disorder with persistence of fetal hemoglobin.","acronym":"IDPFH.","accession":"DI-04812","synonyms":"Dias-Logan syndrome.; Intellectual developmental disorder with hereditary persistence of fetal hemoglobin.; ","cross_references":"MeSH; D065886.","definition":"An autosomal dominant disorder characterized by delayed psychomotor development, intellectual disability, variable dysmorphic features, including microcephaly, downslanting palpebral fissures, strabismus, and external ear abnormalities, and asymptomatic persistence of fetal hemoglobin. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Diamond-Blackfan anemia 15, with mandibulofacial dysostosis.","acronym":"DBA15.","accession":"DI-04370","synonyms":"Diamond-Blackfan anemia with microtia and cleft palate.; ","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":"Microvascular complications of diabetes 7.","acronym":"MVCD7.","accession":"DI-02760","synonyms":"Diabetic nephropathy.; Diabetic non-proliferative retinopathy.; Diabetic proliferative retinopathy.; ","cross_references":"MeSH; D048909.","definition":"Pathological conditions that develop in numerous tissues and organs as a consequence of diabetes mellitus. They include diabetic retinopathy, diabetic nephropathy leading to end-stage renal disease, and diabetic neuropathy. Diabetic retinopathy remains the major cause of new-onset blindness among diabetic adults. It is characterized by vascular permeability and increased tissue ischemia and angiogenesis. ","keywords":null},{"identifier":"Microvascular complications of diabetes 6.","acronym":"MVCD6.","accession":"DI-02759","synonyms":"Diabetic nephropathy.; ","cross_references":"MeSH; D048909.","definition":"Pathological conditions that develop in numerous tissues and organs as a consequence of diabetes mellitus. They include diabetic retinopathy, diabetic nephropathy leading to end-stage renal disease, and diabetic neuropathy. Diabetic retinopathy remains the major cause of new-onset blindness among diabetic adults. It is characterized by vascular permeability and increased tissue ischemia and angiogenesis. ","keywords":null},{"identifier":"Microvascular complications of diabetes 5.","acronym":"MVCD5.","accession":"DI-02758","synonyms":"Diabetic nephropathy.; ","cross_references":"MeSH; D048909.","definition":"Pathological conditions that develop in numerous tissues and organs as a consequence of diabetes mellitus. They include diabetic retinopathy, diabetic nephropathy leading to end-stage renal disease, and diabetic neuropathy. Diabetic retinopathy remains the major cause of new-onset blindness among diabetic adults. It is characterized by vascular permeability and increased tissue ischemia and angiogenesis. ","keywords":null},{"identifier":"Microvascular complications of diabetes 4.","acronym":"MVCD4.","accession":"DI-02757","synonyms":"Diabetic nephropathy.; ","cross_references":"MeSH; D048909.","definition":"Pathological conditions that develop in numerous tissues and organs as a consequence of diabetes mellitus. They include diabetic retinopathy, diabetic nephropathy leading to end-stage renal disease, and diabetic neuropathy. Diabetic retinopathy remains the major cause of new-onset blindness among diabetic adults. It is characterized by vascular permeability and increased tissue ischemia and angiogenesis. ","keywords":null},{"identifier":"Microvascular complications of diabetes 2.","acronym":"MVCD2.","accession":"DI-02755","synonyms":"Diabetic end-stage renal disease.; Diabetic nephropathy.; Proliferative diabetic retinopathy.; ","cross_references":"MeSH; D048909.","definition":"Pathological conditions that develop in numerous tissues and organs as a consequence of diabetes mellitus. They include diabetic retinopathy, diabetic nephropathy leading to end-stage renal disease, and diabetic neuropathy. Diabetic retinopathy remains the major cause of new-onset blindness among diabetic adults. It is characterized by vascular permeability and increased tissue ischemia and angiogenesis. ","keywords":null},{"identifier":"Microvascular complications of diabetes 1.","acronym":"MVCD1.","accession":"DI-02754","synonyms":"Diabetic end-stage renal disease.; Diabetic nephropathy.; Diabetic neuropathy.; Non-proliferative diabetic retinopathy.; Proliferative diabetic retinopathy.; ","cross_references":"MeSH; D048909.","definition":"Pathological conditions that develop in numerous tissues and organs as a consequence of diabetes mellitus. They include diabetic retinopathy, diabetic nephropathy leading to end-stage renal disease, and diabetic neuropathy. Diabetic retinopathy remains the major cause of new-onset blindness among diabetic adults. It is characterized by vascular permeability and increased tissue ischemia and angiogenesis. ","keywords":null}]}