{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=540&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=500&ordering=synonyms","results":[{"identifier":"Autism 16.","acronym":"AUTS16.","accession":"DI-02793","synonyms":"Autism with or without seizures.; ","cross_references":"MeSH; D001321.","definition":"A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate intellectual disability. AUTS16 can be associated with epilepsy. ","keywords":"KW-1269:Autism.; "},{"identifier":"Autoimmune disease 1.","acronym":"AIS1.","accession":"DI-02737","synonyms":"Autoimmune disease susceptibility 1.; Autoimmune disease susceptibility locus chromosome 1p-related.; VAMAS2.; Vitiligo-associated multiple autoimmune disease susceptibility 2.; Vitiligo-associated multiple autoimmune disease type 2.; ","cross_references":"MeSH; D001327.","definition":"An autoimmune disorder characterized by the association of vitiligo with autoimmune thyroiditis (Hashimoto thyroiditis). ","keywords":null},{"identifier":"Autoimmune disease 6.","acronym":"AIS6.","accession":"DI-02927","synonyms":"Autoimmune disease susceptibility 6.; ","cross_references":"MeSH; D001327.","definition":"Individuals manifesting susceptibility to autoimmune disease type 6 can suffer from juvenile idiopathic arthritis, rheumatoid arthritis, multiple sclerosis, Sjogren syndrome, systemic lupus erythematosus, type 1 diabetes, ulcerative colitis, and Crohn disease. ","keywords":null},{"identifier":"Autoimmune lymphoproliferative syndrome 1A.","acronym":"ALPS1A.","accession":"DI-00155","synonyms":"Autoimmune lymphoproliferative syndrome type IA.; Canale-Smith syndrome.; CSS.; ","cross_references":"MeSH; D056735.","definition":"A disorder of apoptosis that manifests in early childhood and results in the accumulation of autoreactive lymphocytes. It is characterized by non-malignant lymphadenopathy with hepatosplenomegaly, and autoimmune hemolytic anemia, thrombocytopenia and neutropenia. ","keywords":null},{"identifier":"Autoimmune lymphoproliferative syndrome 1B.","acronym":"ALPS1B.","accession":"DI-00156","synonyms":"Autoimmune lymphoproliferative syndrome type IB.; Canale-Smith syndrome.; CSS.; ","cross_references":"MeSH; D056735.","definition":"A disorder of apoptosis that manifests in early childhood and results in the accumulation of autoreactive lymphocytes. It is characterized by non-malignant lymphadenopathy with hepatosplenomegaly, and autoimmune hemolytic anemia, thrombocytopenia and neutropenia. ","keywords":null},{"identifier":"Autoimmune lymphoproliferative syndrome 3.","acronym":"ALPS3.","accession":"DI-03976","synonyms":"Autoimmune lymphoproliferative syndrome, type III.; CVID9.; Immunodeficiency, common variable, 9.; ","cross_references":"MeSH; D017074.","definition":"A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B-cells is usually in the normal range, but can be low. CVID9 patients have B-cell deficiency and severe autoimmunity. ","keywords":null},{"identifier":"Proteasome-associated autoinflammatory syndrome 1.","acronym":"PRAAS1.","accession":"DI-03009","synonyms":"Autoinflammation, lipodystrophy, and dermatosis syndrome.; CANDLE.; Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome.; JMP syndrome.; Joint contractures muscular atrophy microcytic anemia and panniculitis-induced lipodystrophy.; Nakajo-Nishimura syndrome.; Nakajo syndrome.; NKJO.; NNS.; Nodular erythema with digital changes.; Secondary hypertrophic osteoperiostosis with pernio.; ","cross_references":"MeSH; D008060.","definition":"An autosomal recessive autoinflammatory disorder characterized by early childhood onset of recurrent fever, joint stiffness and severe contractures of the hands and feet, and erythematous skin lesions with subsequent development of lipodystrophy and laboratory evidence of immune dysregulation. Accompanying features may include muscle weakness and atrophy, hepatosplenomegaly, and microcytic anemia. ","keywords":null},{"identifier":"Chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis.","acronym":"CRMO2.","accession":"DI-02552","synonyms":"Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency.; DIRA.; Interleukin 1 receptor antagonist deficiency.; OMPP.; Osteomyelitis, sterile multifocal, with periostitis and pustulosis.; ","cross_references":"MeSH; D056660.","definition":"An autosomal recessive, autoinflammatory disease of skin and bone resulting in sterile multifocal osteomyelitis, periostitis, and pustulosis from birth. The term autoinflammatory disease describes a group of disorders characterized by attacks of seemingly unprovoked inflammation without significant levels of autoantibodies and autoreactive T-cells. ","keywords":null},{"identifier":"STING-associated vasculopathy, infantile-onset.","acronym":"SAVI.","accession":"DI-04179","synonyms":"Autoinflammatory-vasculopathy syndrome.; ","cross_references":"MeSH; D056660.","definition":"An autoinflammatory disease characterized by early-onset systemic inflammation and cutaneous vasculopathy, resulting in severe skin lesions. Violaceous, scaling lesions of fingers, toes, nose, cheeks and ears progress to acral necrosis in most of the patients. Some patients have severe interstitial lung disease. ","keywords":null},{"identifier":"Basal ganglia calcification, idiopathic, 1.","acronym":"IBGC1.","accession":"DI-03407","synonyms":"Autosomal dominant adult-onset striopallidodentate calcinosis.; Bilateral striopallidodentate calcinosis.; BSPDC.; Cerebrovascular ferrocalcinosis.; Familial Fahr disease.; IBGC2.; IBGC3.; Idiopathic basal ganglia calcification 2.; Idiopathic basal ganglia calcification 3.; Non-arteriosclerotic, idiopathic, adult-onset cerebral calcification.; PFBC.; Primary familial brain calcification.; ","cross_references":"MeSH; D002114.","definition":"A form of basal ganglia calcification, an autosomal dominant condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas. ","keywords":null},{"identifier":"Aicardi-Goutieres syndrome 1.","acronym":"AGS1.","accession":"DI-00066","synonyms":"Autosomal dominant Aicardi-Goutieres syndrome.; Cree encephalitis.; Encephalopathy familial infantile with intracranial calcification and chronic cerebrospinal fluid lymphocytosis.; Pseudo-TORCH syndrome.; Pseudotoxoplasmosis syndrome.; ","cross_references":"MeSH; D020274.","definition":"A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood. ","keywords":"KW-0948:Aicardi-Goutieres syndrome.; "},{"identifier":"Osteopetrosis, autosomal dominant 2.","acronym":"OPTA2.","accession":"DI-00885","synonyms":"Autosomal dominant Albers-Schonberg disease.; Marble disease autosomal dominant.; ","cross_references":"MeSH; D010022.","definition":"A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. It is characterized by sclerosis, predominantly involving the spine, the pelvis and the skull base. ","keywords":"KW-0987:Osteopetrosis.; "},{"identifier":"Alzheimer disease 1.","acronym":"AD1.","accession":"DI-00085","synonyms":"Autosomal dominant Alzheimer disease.; Early-onset Alzheimer disease with cerebral amyloid angiopathy.; ","cross_references":"MeSH; D000544.","definition":"A form of Alzheimer disease, a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid-beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death. It can be associated with cerebral amyloid angiopathy. Alzheimer disease can be associated with cerebral amyloid angiopathy. ","keywords":"KW-0026:Alzheimer disease.; KW-0523:Neurodegeneration.; KW-1008:Amyloidosis.; "},{"identifier":"Bernard-Soulier syndrome A2, autosomal dominant.","acronym":"BSSA2.","accession":"DI-01273","synonyms":"Autosomal dominant benign Bernard-Soulier syndrome.; Benign mediterranean macrothrombocytopenia.; ","cross_references":"MeSH; D001606.","definition":"A coagulation disorder characterized by mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet volume. Some individuals have no symptoms. Mild bleeding tendencies manifest as epistaxis, gingival bleeding, menorrhagia, easy bruising, or prolonged bleeding after dental surgery. ","keywords":null},{"identifier":"Erythrocytosis, familial, 1.","acronym":"ECYT1.","accession":"DI-00479","synonyms":"Autosomal dominant benign erythrocytosis.; Familial primary polycythemia.; PFCP.; ","cross_references":"MeSH; D011086.","definition":"An autosomal dominant disorder characterized by elevated hemoglobin and hematocrit, hypersensitivity of erythroid progenitors to erythropoietin, erythropoietin low serum levels, and no increase in platelets nor leukocytes. It has a relatively benign course and does not progress to leukemia. ","keywords":"KW-0985:Congenital erythrocytosis.; "},{"identifier":"Blepharophimosis, ptosis, and epicanthus inversus syndrome.","acronym":"BPES.","accession":"DI-01287","synonyms":"Autosomal dominant BPES type I.; Autosomal recessive BPES type I.; Blepharophimosis syndrome.; BPES type I.; BPES type II.; BPES with Duane retraction syndrome.; BPES without ovarian failure.; BPES with ovarian failure.; ","cross_references":"MeSH; D016569.","definition":"A disorder characterized by eyelid dysplasia, small palpebral fissures, drooping eyelids and a skin fold curving in the mediolateral direction, inferior to the inner canthus. In type I BPSE (BPES1) eyelid abnormalities are associated with female infertility. Affected females show an ovarian deficit due to primary amenorrhea or to premature ovarian failure (POF). In type II BPSE (BPES2) affected individuals show only the eyelid defects. ","keywords":null},{"identifier":"Brachyolmia 3.","acronym":"BCYM3.","accession":"DI-01292","synonyms":"Autosomal dominant brachyolmia.; Brachyrachia.; ","cross_references":"MeSH; D010009.","definition":"A form of brachyolmia, a clinically and genetically heterogeneous skeletal dysplasia primarily affecting the spine and characterized by a short trunk, short stature, and platyspondyly. BCYM3 is an autosomal dominant form with severe scoliosis with or without kyphosis, and flattened irregular cervical vertebrae. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Immunodeficiency 32A.","acronym":"IMD32A.","accession":"DI-03810","synonyms":"Autosomal dominant CD11C-positive/CD1C-positive dendritic cell deficiency.; Autosomal dominant immunodeficiency 32A, mycobacteriosis.; Autosomal dominant IRF8 deficiency.; ","cross_references":"MeSH; D007153.","definition":"An immunologic disorder characterized by abnormal peripheral blood myeloid phenotype with a marked loss of CD11C-positive/CD1C dendritic cells, resulting in selective susceptibility to mycobacterial infections. ","keywords":null},{"identifier":"Spinal muscular atrophy, lower extremity-predominant 1, autosomal dominant.","acronym":"SMALED1.","accession":"DI-03433","synonyms":"Autosomal dominant childhood proximal spinal muscular atrophy.; Autosomal dominant juvenile proximal spinal muscular atrophy.; Autosomal dominant Kugelberg-Welander syndrome.; SMA-LED.; ","cross_references":"MeSH; D009134.","definition":"A form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. SMALED1 is characterized by muscle weakness predominantly affecting the proximal lower extremities. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Cataract 9, multiple types.","acronym":"CTRCT9.","accession":"DI-01200","synonyms":"Autosomal dominant congenital cataract.; Autosomal recessive congenital cataract 1.; Cataract 9, multiple types, with or without microcornea.; Cataract autosomal dominant.; CATC1.; ","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. CTRCT9 includes nuclear, zonular central nuclear, anterior polar, cortical, embryonal, anterior subcapsular, fan-shaped, and total cataracts, among others. 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.; "}]}