{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=800&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=760&ordering=synonyms","results":[{"identifier":"Complement component 6 deficiency.","acronym":"C6D.","accession":"DI-01375","synonyms":"C6 deficiency.; C6 deficiency subtotal.; Complement component 6 deficiency subtotal.; ","cross_references":"MeSH; D007154.","definition":"A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections, predominantly by Neisseria gonorrhoeae or Neisseria meningitidis. ","keywords":null},{"identifier":"Complement component 7 deficiency.","acronym":"C7D.","accession":"DI-01382","synonyms":"C7 deficiency.; ","cross_references":"MeSH; D007154.","definition":"A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections, predominantly by Neisseria gonorrhoeae or Neisseria meningitidis. ","keywords":null},{"identifier":"Complement component 8 deficiency, 1.","acronym":"C8D1.","accession":"DI-01373","synonyms":"C8 alpha-gamma deficiency.; C8 deficiency type I.; Complement component 8 deficiency type I.; ","cross_references":"MeSH; D007154.","definition":"A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections, predominantly by Neisseria gonorrhoeae or Neisseria meningitidis. ","keywords":null},{"identifier":"Complement component 8 deficiency, 2.","acronym":"C8D2.","accession":"DI-01374","synonyms":"C8 beta deficiency.; C8 deficiency type II.; Complement C8B deficiency.; Complement component 8 deficiency type II.; ","cross_references":"MeSH; D007154.","definition":"A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections, predominantly by Neisseria gonorrhoeae or Neisseria meningitidis. ","keywords":null},{"identifier":"Complement component 9 deficiency.","acronym":"C9D.","accession":"DI-01383","synonyms":"C9 deficiency.; C9 deficiency with dermatomyositis.; ","cross_references":"MeSH; D007154.","definition":"A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections predominantly by Neisseria gonorrhoeae or Neisseria meningitidis. Some patients may develop dermatomyositis. ","keywords":null},{"identifier":"Intellectual developmental disorder, X-linked, syndromic, Cabezas type.","acronym":"MRXSC.","accession":"DI-01309","synonyms":"Cabezas syndrome.; Intellectual deficit, X-linked, Cabezas type.; MRSS.; MRXHF2.; MRXS15.; ","cross_references":"MeSH; D038901.","definition":"A syndromic form of X-linked intellectual disability characterized by severe intellectual deficit associated with short stature, craniofacial dysmorphism, small testes, muscle wasting in lower legs, kyphosis, joint hyperextensibility, pes cavus, small feet, and abnormalities of the toes. Additional neurologic manifestations include speech delay and impairment, tremor, seizures, gait ataxia, hyperactivity and decreased attention span. ","keywords":"KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "},{"identifier":"Choroidal dystrophy, central areolar, 1.","acronym":"CACD1.","accession":"DI-05168","synonyms":"CACD.; Choroidal dystrophy.; Choroidal dystrophy, central areolar.; ","cross_references":"MeSH; D012164.","definition":"A form of central areolar choroidal dystrophy, a retinal disease that affects the macula and results in a well-demarcated circumscribed area of atrophy of the pigment epithelium and choriocapillaris. CACD1 inheritance is autosomal recessive. ","keywords":null},{"identifier":"Leukoencephalopathy with vanishing white matter 1.","acronym":"VWM1.","accession":"DI-00654","synonyms":"CACH.; Childhood ataxia with central nervous system hypomyelinization.; CLE.; Cree leukoencephalopathy.; Leukodystrophy with vanishing white matter.; Leukoencephalopathy with vanishing white matter.; Vanishing white matter disease.; VWM.; ","cross_references":"MeSH; D056784.","definition":"An autosomal recessive brain disease characterized by neurological features including progressive cerebellar ataxia, spasticity, and cognitive deficits. Brain imaging shows abnormal white matter that vanishes over time and is replaced by cerebrospinal fluid. Disease severity ranges from fatal infantile forms to adult forms without neurological deterioration. The disease is progressive with, in most individuals, additional episodes of rapid deterioration following febrile infections or minor head trauma. Death may occurs after a variable period after disease onset, usually following an episode of fever and coma. A subset of affected females with milder forms of the disease who survive to adolescence exhibit ovarian dysfunction. This variant of the disorder is called ovarioleukodystrophy. ","keywords":"KW-1026:Leukodystrophy.; "},{"identifier":"Carnitine-acylcarnitine translocase deficiency.","acronym":"CACTD.","accession":"DI-01324","synonyms":"CACT deficiency.; ","cross_references":"MeSH; D008052.","definition":"A rare long-chain fatty acid oxidation disorder. Metabolic consequences include hypoketotic hypoglycemia under fasting conditions, hyperammonemia, elevated creatine kinase and transaminases, dicarboxylic aciduria, very low free carnitine and abnormal acylcarnitine profile with marked elevation of the long-chain acylcarnitines. Clinical features include neurologic abnormalities, cardiomyopathy, arrhythmias, skeletal muscle damage, liver dysfunction and episodes of life-threatening coma, which eventually lead to death. Most patients become symptomatic in the neonatal period with a rapidly progressive deterioration and a high mortality rate. ","keywords":null},{"identifier":"Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1.","acronym":"CADASIL1.","accession":"DI-01334","synonyms":"CADASIL.; CASIL.; Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant.; Dementia hereditary multiinfarct type.; Dementia hereditary multi-infarct type.; ","cross_references":"MeSH; D046589.","definition":"A cerebrovascular disease characterized by multiple subcortical infarcts, pseudobulbar palsy, dementia, and the presence of granular deposits in small cerebral arteries producing ischemic stroke. ","keywords":null},{"identifier":"Hyperphenylalaninemia, BH4-deficient, D.","acronym":"HPABH4D.","accession":"DI-01279","synonyms":"CADH deficiency.; Hyperphenylalaninemia tetrahydrobiopterin-deficient due to PHS deficiency.; Hyperphenylalaninemia tetrahydrobiopterin-deficient due to pterin-4-alpha-carbinolamine dehydratase deficiency.; Hyperphenylalaninemia with primapterinuria.; PCBD deficiency.; PHS deficiency.; Pterin-4-alpha-carbinolamine dehydratase deficiency.; ","cross_references":"MeSH; D010661.","definition":"An autosomal recessive disease characterized by primapterinuria, a variant form of hyperphenylalaninemia defined by increased excretion of 7-substituted pterins in the urine. Patients with primapterinuria show an increased ratio of neopterin to biopterin in the urine, excretion of subnormal levels of biopterins, and normal levels of biogenic amines in cerebrospinal fluid. Neurologic signs are mild, present in the neonatal period only, and include hypotonia, delayed motor development and tremor. ","keywords":null},{"identifier":"Cataract 1, multiple types.","acronym":"CTRCT1.","accession":"DI-02470","synonyms":"CAE1.; Cataract 1, multiple types, with or without microcornea.; Cataract Duffy-linked.; Cataract-microcornea syndrome.; Cataract zonular pulverulent 1.; CCMC.; CZNP.; CZP.; CZP1.; Pulverulent zonular cataract.; Zonular nuclear pulverulent cataract.; ","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. CTRCT1 includes congenital, zonular pulverulent, nuclear progressive, nuclear pulverulent, nuclear total, total, and posterior subcapsular types of 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. In some cases cataract is associated with microcornea without any other systemic anomaly or dysmorphism. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye. ","keywords":"KW-0898:Cataract.; "},{"identifier":"Cataract 14, multiple types.","acronym":"CTRCT14.","accession":"DI-02471","synonyms":"CAE3.; CZP3.; Zonular pulverulent cataract 3.; ","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. CTRCT14 includes zonular pulverulent cataract, among others. 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. 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":"Conotruncal heart malformations.","acronym":"CTHM.","accession":"DI-01424","synonyms":"CAFS.; Common arterial trunk.; Conotruncal anomaly face syndrome.; Conotruncal heart defects.; CTHD.; DORV.; Double-outlet right ventricle.; Persistent truncus arteriosus.; PTA.; TAC.; Truncus arteriosus communis.; ","cross_references":"MeSH; D014339.","definition":"A group of congenital heart defects involving the outflow tracts. Examples include truncus arteriosus communis, double-outlet right ventricle and transposition of great arteries. Truncus arteriosus communis is characterized by a single outflow tract instead of a separate aorta and pulmonary artery. In transposition of the great arteries, the aorta arises from the right ventricle and the pulmonary artery from the left ventricle. In double outlet of the right ventricle, both the pulmonary artery and aorta arise from the right ventricle. ","keywords":null},{"identifier":"Gordon Holmes syndrome.","acronym":"GDHS.","accession":"DI-03788","synonyms":"CAHH.; Cerebellar ataxia and hypogonadotropic hypogonadism.; Deficiency of luteinizing hormone-releasing hormone with ataxia.; LHRH deficiency and ataxia.; ","cross_references":"MeSH; D007006.","definition":"A disease characterized by cerebellar symptoms and signs of sex steroid deficiency. Clinical features include cerebellar and brain stem atrophy, cerebellar ataxia, hypothalamic LHRH deficiency, hypogonadotrophic hypogonadism, lack of secondary sexual characteristics, and infertility. ","keywords":"KW-1016:Hypogonadotropic hypogonadism.; "},{"identifier":"Papillorenal syndrome.","acronym":"PAPRS.","accession":"DI-02258","synonyms":"CAKUT with or without ocular abnormalities.; Coloboma of optic nerve with renal disease.; Congenital anomalies of the kidney and urinary tract with or without ocular abnormalities.; Optic coloboma vesicoureteral reflux and renal anomalies.; Optic nerve coloboma with renal disease.; Renal-coloboma syndrome.; Renal-coloboma syndrome with macular abnormalities.; ","cross_references":"MeSH; D051437.","definition":"An autosomal dominant disorder characterized by both ocular and renal anomalies, but may also include vesicoureteral reflux, high frequency hearing loss, central nervous system anomalies, and/or genital anomalies. Eye anomalies in this disorder consist of a wide and sometimes excavated dysplastic optic disk with the emergence of the retinal vessels from the periphery of the disk, designated optic nerve coloboma or 'morning glory' anomaly. Associated findings may include a small corneal diameter, retinal coloboma, scleral staphyloma, optic nerve cyst, microphthalmia, and pigmentary macular dysplasia. The kidneys are small and abnormally formed (renal hypodysplasia), and have fewer than the normal number of glomeruli, which are enlarged (oligomeganephronia). These ocular and renal anomalies result in decreased visual acuity and retinal detachment, as well as hypertension, proteinuria, and renal insufficiency that frequently progresses to end-stage renal disease. ","keywords":null},{"identifier":"Chondrocalcinosis 2.","acronym":"CCAL2.","accession":"DI-01342","synonyms":"Calcium gout.; Calcium pyrophosphate arthropathy.; Calcium pyrophosphate dihydrate deposition disease.; Calcium pyrophosphate dihydrate deposition disease 2.; Chondrocalcinosis, familial articular.; CPPDD.; CPPDD2.; Familial articular chondrocalcinosis.; ","cross_references":"MeSH; D002805.","definition":"Chondrocalcinosis is a common cause of joint pain and arthritis caused by calcium deposition in articular cartilage and the presence of calcium hypophosphate crystals in synovial fluid, cartilage and periarticular soft tissue. CCAL2 inheritance is autosomal dominant. ","keywords":null},{"identifier":"Nephrolithiasis, calcium oxalate, 1.","acronym":"CAON1.","accession":"DI-04782","synonyms":"Calcium oxalate urolithiasis.; Kidney stones.; Urolithiasis, calcium oxalate.; ","cross_references":"MeSH; D053040.","definition":"A form of nephrolithiasis, a condition in which urinary supersaturation leads to stone formation in the urinary system. Patients manifest acute renal colic with severe pain originating in the flank. Patients with small, non-obstructing stones or those with staghorn calculi may be asymptomatic. The majority of renal calculi contain calcium. CAON1 is characterized by calcium oxalate kidney stones. ","keywords":null},{"identifier":"Periodic fever, familial, autosomal dominant.","acronym":"FPF.","accession":"DI-00491","synonyms":"Caledonian fever.; Familial hibernian fever.; FHF.; TNF receptor-associated periodic syndrome.; TRAPS.; Tumor necrosis factor receptor-associated periodic syndrome.; ","cross_references":"MeSH; D056660.","definition":"A hereditary periodic fever syndrome characterized by recurrent fever, abdominal pain, localized tender skin lesions and myalgia. Reactive amyloidosis is the main complication and occurs in 25% of cases. ","keywords":"KW-1008:Amyloidosis.; "},{"identifier":"Spinocerebellar ataxia, autosomal recessive, 21.","acronym":"SCAR21.","accession":"DI-04603","synonyms":"CALFAN.; Cholestasis, low GGT, acute liver failure, and neurodegeneration syndrome.; Spinocerebellar ataxia, autosomal recessive 21, with hepatopathy.; ","cross_references":"MeSH; D013132.","definition":"A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR21 is characterized by cerebellar atrophy and ataxia with onset in early childhood. Patients also manifest recurrent episodes of liver failure, hepatic fibrosis and a peripheral neuropathy. ","keywords":"KW-0523:Neurodegeneration.; KW-0991:Intellectual disability.; "}]}