{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1000&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=960&ordering=-synonyms","results":[{"identifier":"Ectopia lentis 2, isolated, autosomal recessive.","acronym":"ECTOL2.","accession":"DI-01244","synonyms":null,"cross_references":"MeSH; D004479.","definition":"An ocular abnormality characterized by partial or complete displacement of the lens from its space resulting from defective zonule formation. ","keywords":null},{"identifier":"Deafness, autosomal dominant, 7.","acronym":"DFNA7.","accession":"DI-05774","synonyms":null,"cross_references":"MeSH; D006319.","definition":"A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA7 is a progressive form with highly variable age at onset and severity, even within families. The age at onset ranges from congenital to mid-adulthood. ","keywords":"KW-1010:Non-syndromic deafness.; "},{"identifier":"Spermatogenic failure 36.","acronym":"SPGF36.","accession":"DI-05555","synonyms":null,"cross_references":"MeSH; D007248.","definition":"An autosomal dominant infertility disorder due to teratozoospermia, with spermatozoa showing anomalies of the head, acrosome, and nucleus. ","keywords":null},{"identifier":"Cortical dysplasia, complex, with other brain malformations 10.","acronym":"CDCBM10.","accession":"DI-05688","synonyms":null,"cross_references":"MeSH; D054220.","definition":"An autosomal recessive disorder of aberrant neuronal migration during brain development. CDCBM10 is clinically characterized by onset in infancy of global developmental delay, impaired intellectual development, seizures, inability to ambulate, and absent language. Brain imaging shows lissencephaly, cortical dysplasia, subcortical heterotopia, and paucity of white matter. ","keywords":"KW-0451:Lissencephaly.; KW-0991:Intellectual disability.; "},{"identifier":"Charcot-Marie-Tooth disease 4J.","acronym":"CMT4J.","accession":"DI-00291","synonyms":null,"cross_references":"MeSH; D002607.","definition":"A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. ","keywords":"KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "},{"identifier":"Adrenal insufficiency, NR5A1-related.","acronym":"AINR.","accession":"DI-05003","synonyms":null,"cross_references":"MeSH; D000309.","definition":"A disorder characterized by adrenal insufficiency, muscular hypotonia, decreased sodium and increased potassium levels, elevated ACTH, salt- wasting crisis, prolonged jaundice, hypoglycemia, and vomiting. ","keywords":null},{"identifier":"Autoimmune thyroid disease 3.","acronym":"AITD3.","accession":"DI-02878","synonyms":null,"cross_references":"MeSH; D013967.","definition":"A complex autoimmune disorder comprising two related diseases affecting the thyroid: Graves disease and Hashimoto thyroiditis. In both disorders, thyroid-reactive T-cells are formed and infiltrate the thyroid gland. In Graves disease, the majority of the T-cells undergo a Th2 differentiation and activate B-cells to produce antibodies against the TSH receptor, which stimulate the thyroid and cause clinical hyperthyroidism. In contrast, Hashimoto thyroiditis is characterized by Th1 switching of the thyroid-infiltrating T-cells, which induces apoptosis of thyroid follicular cells and clinical hypothyroidism. ","keywords":null},{"identifier":"Amyloidosis, primary localized cutaneous, 2.","acronym":"PLCA2.","accession":"DI-03102","synonyms":null,"cross_references":"MeSH; D028226.","definition":"A primary amyloidosis characterized by localized cutaneous amyloid deposition. This condition usually presents with itching (especially on the lower legs) and visible changes of skin hyperpigmentation and thickening that may be exacerbated by chronic scratching and rubbing. Primary localized cutaneous amyloidosis is often divided into macular and lichen subtypes although many affected individuals often show both variants coexisting. Lichen amyloidosis characteristically presents as a pruritic eruption of grouped hyperkeratotic papules with a predilection for the shins, calves, ankles and dorsa of feet and thighs. Papules may coalesce to form hyperkeratotic plaques that can resemble lichen planus, lichen simplex or nodular prurigo. Macular amyloidosis is characterized by small pigmented macules that may merge to produce macular hyperpigmentation, sometimes with a reticulate or rippled pattern. In macular and lichen amyloidosis, amyloid is deposited in the papillary dermis in association with grouped colloid bodies, thought to represent degenerate basal keratinocytes. The amyloid deposits probably reflect a combination of degenerate keratin filaments, serum amyloid P component, and deposition of immunoglobulins. ","keywords":"KW-1008:Amyloidosis.; "},{"identifier":"Autoinflammation with arthritis and dyskeratosis.","acronym":"AIADK.","accession":"DI-04967","synonyms":null,"cross_references":"MeSH; D056660.","definition":"A disorder characterized by recurrent fever, diffuse skin dyskeratosis, autoinflammation, autoimmunity, arthritis and high transitional B-cell level. Inheritance can be autosomal dominant or autosomal recessive. ","keywords":null},{"identifier":"Combined oxidative phosphorylation deficiency 29.","acronym":"COXPD29.","accession":"DI-04649","synonyms":null,"cross_references":"MeSH; D028361.","definition":"An autosomal recessive, infantile-onset, neurodegenerative disorder characterized by decreased activities of mitochondrial respiratory complexes I and III, severe cerebellar atrophy, epilepsy, dystonia, optic atrophy, and peripheral neuropathy. ","keywords":"KW-0523:Neurodegeneration.; KW-1274:Primary mitochondrial disease.; "},{"identifier":"Coronary artery disease, autosomal dominant, 2.","acronym":"ADCAD2.","accession":"DI-01203","synonyms":null,"cross_references":"MeSH; D003324.","definition":"A common heart disease characterized by reduced or absent blood flow in one or more of the arteries that encircle and supply the heart. Its most important complication is acute myocardial infarction. ","keywords":null},{"identifier":"Congenital bile acid synthesis defect 5.","acronym":"CBAS5.","accession":"DI-04360","synonyms":null,"cross_references":"MeSH; D008107.","definition":"An autosomal recessive disorder characterized by hepatosplenomegaly, hepatic fibrosis, progressive liver failure, and accumulation of peroxisomal C27-bile acid intermediates in plasma. ","keywords":null},{"identifier":"Combined oxidative phosphorylation deficiency 48.","acronym":"COXPD48.","accession":"DI-05913","synonyms":null,"cross_references":"MeSH; D028361.","definition":"An autosomal recessive, mitochondrial encephalomyopathy characterized by global developmental delay, microcephaly, failure to thrive, hypotonia, muscle weakness, external ophthalmoplegia, and seizures. Laboratory studies show metabolic acidosis, increased serum lactate, and combined oxidative phosphorylation deficiency in skeletal muscle. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Charcot-Marie-Tooth disease, recessive intermediate D.","acronym":"CMTRID.","accession":"DI-04254","synonyms":null,"cross_references":"MeSH; D002607.","definition":"A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Recessive intermediate forms of Charcot-Marie-Tooth disease are characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. ","keywords":"KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "},{"identifier":"Autoinflammation with infantile enterocolitis.","acronym":"AIFEC.","accession":"DI-04246","synonyms":null,"cross_references":"MeSH; D056660.","definition":"An autosomal dominant disorder characterized by neonatal-onset enterocolitis, periodic fever, and fatal or near-fatal episodes of autoinflammation. Affected individuals tend to have poor overall growth and gastrointestinal symptoms in infancy, recurrent febrile episodes with splenomegaly, and sometimes hematologic disturbances, arthralgias, or myalgias. ","keywords":null},{"identifier":"Combined oxidative phosphorylation deficiency 13.","acronym":"COXPD13.","accession":"DI-03613","synonyms":null,"cross_references":"MeSH; D017237.","definition":"A mitochondrial disorder characterized by early onset severe encephalomyopathy, dystonia, choreoathetosis, bucofacial dyskinesias and combined mitochondrial respiratory chain deficiency. Nerve conductions velocities are decreased. Levels of plasma and cerebrospinal fluid lactate are increased. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Autoinflammation with pulmonary and cutaneous vasculitis.","acronym":"AIPCV.","accession":"DI-06633","synonyms":null,"cross_references":"MeSH; D056660.","definition":"An autosomal dominant disorder characterized by cutaneous vasculitis and chronic pulmonary inflammation that evolves to fibrosis. AIPCV manifests soon after birth with petechial skin lesions, followed by progressive pulmonary involvement causing restrictive lung disease and respiratory insufficiency. ","keywords":null},{"identifier":"Cornelia de Lange syndrome 3 with or without midline brain defects.","acronym":"CDLS3.","accession":"DI-01432","synonyms":null,"cross_references":"MeSH; D003635.","definition":"A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. Characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies. Cornelia de Lange syndrome type 3 is a mild form with absence of major structural anomalies. The phenotype in some instances approaches that of apparently non-syndromic intellectual disability. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Autoinflammation, antibody deficiency, and immune dysregulation.","acronym":"APLAID.","accession":"DI-03601","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal dominant systemic disorder characterized by recurrent blistering skin lesions with a dense inflammatory infiltrate and variable involvement of other tissues, including joints, the eye, and the gastrointestinal tract. Affected individuals have a mild humoral immune deficiency associated with recurrent sinopulmonary infections, but no evidence of circulating autoantibodies. ","keywords":null},{"identifier":"Familial adenomatous polyposis 4.","acronym":"FAP4.","accession":"DI-04840","synonyms":null,"cross_references":"MeSH; D018256.","definition":"A form of familial adenomatous polyposis, a condition characterized by the development of multiple colorectal adenomatous polyps, benign neoplasms derived from glandular epithelium. Some affected individuals may develop colorectal carcinoma. FAP4 inheritance is autosomal recessive. ","keywords":null}]}