{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=6540&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=6500&ordering=-synonyms","results":[{"identifier":"Acrofacial dysostosis 1, Nager type.","acronym":"AFD1.","accession":"DI-03474","synonyms":"AFD Nager type.; Mandibulofacial dysostosis Treacher Collins type with limb anomalies.; Nager acrofacial dysostosis.; Nager syndrome.; ","cross_references":"MeSH; D008342.","definition":"A form of acrofacial dysostosis, a group of disorders which are characterized by malformation of the craniofacial skeleton and the limbs. The major facial features of AFD1 include downslanted palpebral fissures, midface retrusion, and micrognathia, the latter of which often requires the placement of a tracheostomy in early childhood. Limb defects typically involve the anterior (radial) elements of the upper limbs and manifest as small or absent thumbs, triphalangeal thumbs, radial hyoplasia or aplasia, and radioulnar synostosis. Phocomelia of the upper limbs and, occasionally, lower-limb defects have also been reported. ","keywords":null},{"identifier":"Esophageal cancer.","acronym":"ESCR.","accession":"DI-01537","synonyms":"Aerodigestive tract cancer.; ESCC.; Esophageal squamous cell carcinoma.; Gastric cardia adenocarcinoma.; ","cross_references":"MeSH; D004938.","definition":"A malignancy of the esophagus. The most common types are esophageal squamous cell carcinoma and adenocarcinoma. Cancer of the esophagus remains a devastating disease because it is usually not detected until it has progressed to an advanced incurable stage. ","keywords":null},{"identifier":"Episodic ataxia 1.","acronym":"EA1.","accession":"DI-00475","synonyms":"AEMK.; EA-1.; EAM.; Episodic ataxia with myokymia.; Paroxysmal ataxia with neuromyotonia.; ","cross_references":"MeSH; D020386.","definition":"An autosomal dominant disorder characterized by brief episodes of ataxia and dysarthria. Neurological examination during and between the attacks demonstrates spontaneous, repetitive discharges in the distal musculature (myokymia) that arise from peripheral nerve. Nystagmus is absent. ","keywords":null},{"identifier":"Ichthyosis, annular epidermolytic, 1.","acronym":"AEI1.","accession":"DI-00580","synonyms":"AEI.; Annular ichthyosis variant of BCIE.; Cyclic ichthyosis with epidermolytic hyperkeratosis.; Ichthyosis annular epidermolytic.; ","cross_references":"MeSH; D007057.","definition":"A form of annular epidermolytic ichthyosis, an autosomal dominant skin disorder characterized by polycyclic, migratory erythematous and scaly plaques. AEI1 is characterized by the development of widespread erythematous blistering in the neonatal period or early childhood that subsides over time. ","keywords":"KW-0977:Ichthyosis.; "},{"identifier":"Microphthalmia, syndromic, 3.","acronym":"MCOPS3.","accession":"DI-00762","synonyms":"AEG syndrome.; Anophthalmia/microphthalmia-esophageal atresia.; Anophthalmia-esophageal-genital syndrome.; Microphthalmia and esophageal atresia syndrome.; ","cross_references":"MeSH; D008850.","definition":"A disease characterized by the rare association of malformations including uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with trachoesophageal fistula. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. ","keywords":"KW-1013:Microphthalmia.; "},{"identifier":"Ankyloblepharon-ectodermal defects-cleft lip/palate.","acronym":"AEC.","accession":"DI-00122","synonyms":"AEC syndrome.; Ankyloblepharon-ectodermal defect-cleft lip/palate.; Hay-Wells syndrome.; ","cross_references":"MeSH; D004476.","definition":"An autosomal dominant condition characterized by congenital ectodermal dysplasia with coarse, wiry, sparse hair, dystrophic nails, slight hypohidrosis, scalp infections, ankyloblepharon filiform adnatum, maxillary hypoplasia, hypodontia and cleft lip/palate. ","keywords":"KW-0038:Ectodermal dysplasia.; "},{"identifier":"Angioedema induced by ACE inhibitors.","acronym":"AEACEI.","accession":"DI-03955","synonyms":"AE-ACEI.; ","cross_references":"MeSH; D064420.","definition":"A potentially life-threatening side effect of ACE inhibitors that appears in a subset of patients taking these drugs for hypertension and cardiovascular disease treatment. AEACEI is characterized by swelling of the face, lips, tongue, and airway that can lead to suffocation and death if severe. ","keywords":null},{"identifier":"Periodic paralysis hyperkalemic.","acronym":"HYPP.","accession":"DI-00906","synonyms":"Adynamia episodica hereditaria with or without myotonia.; Gamstorp disease.; ","cross_references":"MeSH; D020513.","definition":"An autosomal dominant channelopathy characterized by episodic flaccid generalized muscle weakness associated with high levels of serum potassium. Concurrence of myotonia is found in HYPP patients. ","keywords":null},{"identifier":"Vitreoretinochoroidopathy.","acronym":"VRCP.","accession":"DI-01125","synonyms":"ADVIRC.; Vitreoretinochoroidopathy, autosomal dominant.; Vitreoretinochoroidopathy autosomal dominant with nanophthalmos, microcornea, rod-cone dystrophy, cataract and posterior staphyloma.; Vitreoretinochoroidopathy with microcornea-glaucoma-cataract.; ","cross_references":"MeSH; D015862.","definition":"An autosomal dominant ocular disorder characterized by vitreoretinochoroidal dystrophy. The clinical presentation is variable. VRCP may be associated with cataract, nanophthalmos, microcornea, shallow anterior chamber, and glaucoma. ","keywords":null},{"identifier":"Polyglucosan body neuropathy, adult form.","acronym":"APBN.","accession":"DI-00052","synonyms":"Adult polyglucosan body disease.; APBD.; Polyglucosan body disease, adult form.; ","cross_references":"MeSH; D009422.","definition":"A late-onset, slowly progressive disorder affecting the central and peripheral nervous systems. Patients typically present after age 40 years with a variable combination of cognitive impairment, pyramidal tetraparesis, peripheral neuropathy, and neurogenic bladder. Other manifestations include cerebellar dysfunction and extrapyramidal signs. The pathologic hallmark of APBN is the widespread accumulation of round, intracellular polyglucosan bodies throughout the nervous system, which are confined to neuronal and astrocytic processes. ","keywords":"KW-0622:Neuropathy.; "},{"identifier":"Dystonia 6, torsion.","acronym":"DYT6.","accession":"DI-00416","synonyms":"Adult-onset torsion dystonia mixed type.; Autosomal dominant torsion dystonia 6.; Dystonia-6.; Torsion dystonia type 6.; ","cross_references":"MeSH; D004421.","definition":"A primary torsion dystonia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Dystonia type 6 is characterized by onset in early adulthood, cranial or cervical involvement in about half of the cases, and frequent progression to involve multiple body regions. ","keywords":"KW-1023:Dystonia.; "},{"identifier":"Glaucoma 1, open angle, F.","acronym":"GLC1F.","accession":"DI-03767","synonyms":"Adult-onset primary open angle glaucoma.; POAG.; Primary open angle glaucoma 1F.; ","cross_references":"MeSH; D005902.","definition":"A form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. ","keywords":"KW-0955:Glaucoma.; "},{"identifier":"Glaucoma 1, open angle, E.","acronym":"GLC1E.","accession":"DI-00938","synonyms":"Adult-onset primary open angle glaucoma.; POAG.; Primary open angle glaucoma 1E.; ","cross_references":"MeSH; D005902.","definition":"A form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. ","keywords":"KW-0955:Glaucoma.; "},{"identifier":"Glaucoma, primary open angle.","acronym":"POAG.","accession":"DI-00936","synonyms":"Adult-onset primary open angle glaucoma.; ","cross_references":"MeSH; D005902.","definition":"A complex and genetically heterogeneous ocular disorder characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. In some cases, POAG shows digenic inheritance involving mutations in CYP1B1 and MYOC genes. ","keywords":"KW-0955:Glaucoma.; "},{"identifier":"Macular dystrophy, vitelliform, 3.","acronym":"VMD3.","accession":"DI-00051","synonyms":"Adult-onset foveomacular dystrophy.; Adult-onset vitelliform macular dystrophy.; AOFMD.; AVMD.; Foveomacular dystrophy, adult-onset, with or without choroidal neovascularization.; ","cross_references":"MeSH; D057826.","definition":"A form of vitelliform macular dystrophy, a retinal disease characterized by yellow, lipofuscin-containing deposits, usually localized at the center of the macula. Patients usually become symptomatic in the fourth or fifth decade of life with a protracted disease of decreased visual acuity. ","keywords":null},{"identifier":"Type 2 diabetes mellitus.","acronym":"T2D.","accession":"DI-02060","synonyms":"Adult-onset diabetes mellitus.; Diabetes mellitus type 2.; Diabetes mellitus type II.; Maturity-onset diabetes.; Noninsulin-dependent diabetes mellitus.; ","cross_references":"MeSH; D003924.","definition":"A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. ","keywords":"KW-0219:Diabetes mellitus.; "},{"identifier":"Citrullinemia 2.","acronym":"CTLN2.","accession":"DI-00310","synonyms":"Adult-onset citrullinemia type 2.; Citrin deficiency.; Citrullinemia type II.; ","cross_references":"MeSH; D056806.","definition":"A form of citrullinemia, an autosomal recessive disease characterized primarily by elevated serum and urine citrulline levels. Ammonia intoxication is another manifestation. Citrullinemia type 2 is characterized by neuropsychiatric symptoms including abnormal behaviors, loss of memory, seizures and coma. Death can result from brain edema. Onset is sudden and usually between the ages of 20 and 50 years. ","keywords":null},{"identifier":"Neurodegeneration with brain iron accumulation 3.","acronym":"NBIA3.","accession":"DI-02044","synonyms":"Adult-onset basal ganglia disease.; Neuroferritinopathy.; ","cross_references":"MeSH; D019189.","definition":"A neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. It is characterized by a variety of neurological signs including parkinsonism, ataxia, corticospinal signs, mild non-progressive cognitive deficit and episodic psychosis. It is linked with decreased serum ferritin levels. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Mitochondrial complex V deficiency, mitochondrial 1.","acronym":"MC5DM1.","accession":"DI-03714","synonyms":"Adult-onset ataxia and polyneuropathy.; Infantile hypertrophic cardiomyopathy.; Mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1.; ","cross_references":"MeSH; D028361.","definition":"A mitochondrial disorder with heterogeneous clinical manifestations including neuropathy, ataxia, hypertrophic cardiomyopathy. Hypertrophic cardiomyopathy can present with negligible to extreme hypertrophy, minimal to extensive fibrosis and myocyte disarray, absent to severe left ventricular outflow tract obstruction, and distinct septal contours/morphologies with extremely varying clinical course. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Gaucher disease 1.","acronym":"GD1.","accession":"DI-01647","synonyms":"Adult non-neuronopathic Gaucher disease.; Gaucher disease type I.; GD I.; Noncerebral juvenile Gaucher disease.; ","cross_references":"MeSH; D005776.","definition":"A form of Gaucher disease, an autosomal recessive lysosomal storage disease due to deficient activity of lysosomal beta- glucocerebrosidase, and characterized by accumulation of glucosylceramide in the reticulo-endothelial system. GD1 is characterized by hepatosplenomegaly with consequent anemia and thrombopenia, and bone involvement. The central nervous system is not involved. ","keywords":null}]}