{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4320&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4280&ordering=-synonyms","results":[{"identifier":"Pachyonychia congenita 1.","acronym":"PC1.","accession":"DI-00891","synonyms":"Jadassohn-Lewandowsky syndrome.; Pachyonychia congenita Jadassohn-Lewandowsky type.; ","cross_references":"MeSH; D053549.","definition":"An autosomal dominant ectodermal dysplasia characterized by hypertrophic nail dystrophy resulting in onchyogryposis (thickening and increase in curvature of the nail), palmoplantar keratoderma, follicular hyperkeratosis, and oral leukokeratosis. Hyperhidrosis of the hands and feet is usually present. ","keywords":"KW-0038:Ectodermal dysplasia.; KW-1007:Palmoplantar keratoderma.; "},{"identifier":"Familial paroxysmal ventricular fibrillation 1.","acronym":"VF1.","accession":"DI-01808","synonyms":"IVF.; Susceptibility to ventricular fibrillation during myocardial infarction.; Ventricular fibrillation, paroxysmal familial, 1.; VF.; ","cross_references":"MeSH; D014693.","definition":"A cardiac arrhythmia marked by fibrillary contractions of the ventricular muscle due to rapid repetitive excitation of myocardial fibers without coordinated contraction of the ventricle and by absence of atrial activity. ","keywords":null},{"identifier":"Neurodevelopmental disorder with absent language and variable seizures.","acronym":"NEDALVS.","accession":"DI-05718","synonyms":"Ito-Raymond syndrome.; ","cross_references":"MeSH; D065886.","definition":"A disorder characterized by neurodevelopmental abnormalities, including moderate to profound intellectual disability, with autistic features, seizures, severe impairments in speech, and gross motor delay. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Lethal congenital contracture syndrome 2.","acronym":"LCCS2.","accession":"DI-00645","synonyms":"Israeli Bedouin multiple contracture syndrome type A.; ","cross_references":"MeSH; D001176.","definition":"A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy, and congenital non- progressive joint contractures (arthrogryposis). The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. LCCS2 patients manifest craniofacial/ocular findings, lack of hydrops, multiple pterygia, and fractures, as well as a normal duration of pregnancy and a unique feature of a markedly distended urinary bladder (neurogenic bladder defect). The phenotype suggests a spinal cord neuropathic etiology. ","keywords":null},{"identifier":"Isovaleric acidemia.","acronym":"IVA.","accession":"DI-01845","synonyms":"Isovaleric acid CoA dehydrogenase deficiency.; IVD deficiency.; ","cross_references":"MeSH; D000592.","definition":"A metabolic disorder characterized by retarded psychomotor development, a peculiar odor resembling sweaty feet, an aversion to dietary protein, and pernicious vomiting, leading to acidosis and coma. The acute neonatal form leads to massive metabolic acidosis from the first days of life and rapid death. ","keywords":null},{"identifier":"Nail disorder, non-syndromic congenital, 8.","acronym":"NDNC8.","accession":"DI-01844","synonyms":"Isolated toenail dystrophy.; Isolated toenail dystrophy without skin fragility.; ","cross_references":"MeSH; D009260.","definition":"A nail disorder characterized by isolated toenail dystrophy. The nail changes are most severe in the great toes and consist of the nail plate being buried in the nail bed with a deformed and narrow free edge. ","keywords":null},{"identifier":"Methionine adenosyltransferase deficiency.","acronym":"MATD.","accession":"DI-02745","synonyms":"Isolated persistent hypermethioninemia.; MAT deficiency.; MAT I/III deficiency.; ","cross_references":"MeSH; D000592.","definition":"An inborn error of metabolism resulting in isolated hypermethioninemia. Most patients have no clinical abnormalities, although some neurologic symptoms may be present in rare cases with severe loss of methionine adenosyltransferase activity. ","keywords":null},{"identifier":"Growth hormone insensitivity, partial.","acronym":"GHIP.","accession":"DI-02300","synonyms":"Isolated partial growth hormone deficiency.; Partial IGHD.; ","cross_references":"MeSH; D004393.","definition":"A disease characterized by partial resistance to growth hormone resulting in short stature. Short stature is defined by a standing height more than 2 standard deviations below the mean (or below the 2.5 percentile) for sex and chronological age, compared with a well- nourished, healthy, genetically relevant population. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Cataract 23, multiple types.","acronym":"CTRCT23.","accession":"DI-01874","synonyms":"Isolated microphthalmia with cataract 4.; Lamellar cataract 23.; MCOPCT4.; ","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. CTRCT23 is a zonular cataract. Zonular or lamellar cataracts are opacities, broad or narrow, usually consisting of powdery white dots affecting only certain layers or zones between the cortex and nucleus of an otherwise clear lens. The opacity may be so dense as to render the entire central region of the lens completely opaque, or so translucent that vision is hardly if at all impeded. Zonular cataracts generally do not involve the embryonic nucleus, though sometimes they involve the fetal nucleus. Usually sharply separated from a clear cortex outside them, they may have projections from their outer edges known as riders or spokes. ","keywords":"KW-0898:Cataract.; "},{"identifier":"Nephrotic syndrome 4.","acronym":"NPHS4.","accession":"DI-01838","synonyms":"Isolated diffuse mesangial sclerosis.; ","cross_references":"MeSH; D009404.","definition":"A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non- specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure. Most patients with NPHS4 show diffuse mesangial sclerosis on renal biopsy, which is a pathologic entity characterized by mesangial matrix expansion with no mesangial hypercellularity, hypertrophy of the podocytes, vacuolized podocytes, thickened basement membranes, and diminished patency of the capillary lumen. ","keywords":null},{"identifier":"Microphthalmia, isolated, 4.","acronym":"MCOP4.","accession":"DI-02535","synonyms":"Isolated clinical anophthalmia.; ","cross_references":"MeSH; D008850.","definition":"A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. ","keywords":"KW-1013:Microphthalmia.; "},{"identifier":"Microphthalmia, isolated, 2.","acronym":"MCOP2.","accession":"DI-00755","synonyms":"Isolated clinical anophthalmia.; ","cross_references":"MeSH; D008850.","definition":"A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. ","keywords":"KW-1013:Microphthalmia.; "},{"identifier":"Methemoglobinemia and ambiguous genitalia.","acronym":"METAG.","accession":"DI-02720","synonyms":"Isolated 17,20-lyase deficiency, pure.; Methemoglobinemia due to deficiency of cytochrome b5.; Methemoglobinemia type IV.; ","cross_references":"MeSH; D008708.","definition":"An autosomal recessive disorder characterized by sex steroid deficiency but normal glucocorticoid and mineralocorticoid reserve, male undermasculinization, absent or disturbed pubertal development, decreased levels of erythrocyte cytochrome B5, and excessive amounts of methemoglobin in blood cells resulting in cyanosis and hypoxia. ","keywords":null},{"identifier":"Insulinomatosis and diabetes mellitus.","acronym":"INSDM.","accession":"DI-05201","synonyms":"Islet cell adenomatosis.; ","cross_references":"MeSH; D007516.","definition":"An autosomal dominant disorder characterized by the occurrence of multicentric insulinomas, hyperinsulinemic hypoglycemia, non insulin- dependent diabetes mellitus, and impaired glucose tolerance. Some patients also exhibit congenital cataract and/or congenital glaucoma. ","keywords":"KW-0219:Diabetes mellitus.; "},{"identifier":"Orthostatic intolerance.","acronym":"OI.","accession":"DI-02100","synonyms":"Irritable heart.; Mitral valve prolapse syndrome.; Neurocirculatory asthenia.; Postural orthostatic tachycardia syndrome.; Postural tachycardia syndrome.; POTS.; Soldiers heart.; ","cross_references":"MeSH; D054972.","definition":"An autosomal dominant disorder characterized by lightheadedness, palpitations, fatigue, blurred vision and tachycardia following postural change from a supine to an upright position, in the absence of hypotension. A syncope with transient cognitive impairment and dyspnea may also occur. Plasma norepinephrine concentration is abnormally high. ","keywords":null},{"identifier":"Axenfeld-Rieger syndrome 1.","acronym":"RIEG1.","accession":"DI-01265","synonyms":"Iridogoniodysgenesis with somatic anomalies.; RGS.; RIEG.; Rieger syndrome type 1.; ","cross_references":"MeSH; D005124.","definition":"An autosomal dominant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals. Additional features include aniridia, maxillary hypoplasia, hypodontia, anal stenosis, redundant periumbilical skin. ","keywords":null},{"identifier":"Immunodeficiency 67.","acronym":"IMD67.","accession":"DI-01831","synonyms":"IPD1.; IRAK4D.; IRAK4 deficiency.; Recurrent isolated invasive pneumococcal disease 1.; ","cross_references":"MeSH; D007153.","definition":"An autosomal recessive primary immunodeficiency characterized by recurrent, life-threatening systemic and invasive bacterial infections beginning in infancy or early childhood. ","keywords":null},{"identifier":"Mitochondrial DNA depletion syndrome 7.","acronym":"MTDPS7.","accession":"DI-01065","synonyms":"IOSCA.; Mitochondrial DNA depletion syndrome 7 hepatocerebral type.; Ohaha syndrome.; Ophthalmoplegia hypotonia ataxia hypoacusis and athetosis.; Pure spinocerebellar ataxia Japanese type.; SCA4 pure Japanese type.; SCA8.; Spinocerebellar ataxia 8.; Spinocerebellar ataxia infantile-onset.; Spinocerebellar ataxia infantile with sensory neuropathy.; ","cross_references":"MeSH; D020754.","definition":"A severe disease associated with mitochondrial dysfunction. Some patients are affected by progressive atrophy of the cerebellum, brain stem, the spinal cord, and sensory axonal neuropathy. Clinical features include hypotonia, athetosis, ataxia, ophthalmoplegia, sensorineural hearing deficit, sensory axonal neuropathy, epileptic encephalopathy and female hypogonadism. In some individuals liver dysfunction and multi-organ failure is present. ","keywords":"KW-0523:Neurodegeneration.; KW-0622:Neuropathy.; KW-1274:Primary mitochondrial disease.; "},{"identifier":"Osteoporosis.","acronym":"OSTEOP.","accession":"DI-02659","synonyms":"Involutional osteoporosis.; Postmenopausal osteoporosis.; Senile osteoporosis.; ","cross_references":"MeSH; D010024.","definition":"A systemic skeletal disorder characterized by decreased bone mass and deterioration of bone microarchitecture without alteration in the composition of bone. The result is fragile bones and an increased risk of fractures, even after minimal trauma. Osteoporosis is a chronic condition of multifactorial etiology and is usually clinically silent until a fracture occurs. ","keywords":"KW-1285:Osteoporosis.; "},{"identifier":"Congenital bile acid synthesis defect 4.","acronym":"CBAS4.","accession":"DI-00332","synonyms":"Intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid.; Trihydroxycoprostanic acid in bile.; ","cross_references":"MeSH; D002780.","definition":"A disorder characterized by the presence of trihydroxycoprostanic acid in the bile and absence of cholic acid. Patients manifest neonatal jaundice, intrahepatic cholestasis and bile duct deficiency. ","keywords":"KW-0988:Intrahepatic cholestasis.; "}]}