Human Disease List
GET /api/human_diseases/?format=api&offset=6000&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6020&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5980&ordering=-identifier", "results": [ { "identifier": "Camurati-Engelmann disease.", "acronym": "CAEND.", "accession": "DI-01314", "synonyms": "CED.; Diaphyseal dysplasia 1, progressive.; DPD1.; Engelmann disease.; PDD.; Progressive diaphyseal dysplasia.; ", "cross_references": "MeSH; D003966.", "definition": "An autosomal dominant disorder characterized by hyperostosis and sclerosis of the diaphyses of long bones. The disease typically presents in early childhood with pain, muscular weakness and waddling gait, and in some cases other features such as exophthalmos, facial paralysis, hearing difficulties and loss of vision. ", "keywords": null }, { "identifier": "Camptosynpolydactyly, complex.", "acronym": "CCSPD.", "accession": "DI-04787", "synonyms": "Camptopolydactyly, disorganization type.; ", "cross_references": "MeSH; D006228.", "definition": "An autosomal recessive disorder characterized by hand and foot deformities consisting of polydactyly with digits arising from the dorsum of hands, syn- and camptodactyly of some fingers, soft tissue syndactyly of first and second toes, and dysplastic nails. ", "keywords": null }, { "identifier": "Camptodactyly, tall stature, and hearing loss syndrome.", "acronym": "CATSHLS.", "accession": "DI-01312", "synonyms": "CATSHL syndrome.; ", "cross_references": "MeSH; D034381.", "definition": "An autosomal dominant syndrome characterized by permanent and irreducible flexion of one or more fingers of the hand and/or feet, tall stature, scoliosis and/or a pectus excavatum, and hearing loss. Affected individuals have developmental delay and/or intellectual disability, and several of these have microcephaly. Radiographic findings included tall vertebral bodies with irregular borders and broad femoral metaphyses with long tubular shafts. On audiological exam, each tested member have bilateral sensorineural hearing loss and absent otoacoustic emissions. The hearing loss was congenital or developed in early infancy, progressed variably in early childhood, and range from mild to severe. Computed tomography and magnetic resonance imaging reveal that the brain, middle ear, and inner ear are structurally normal. ", "keywords": "KW-0209:Deafness.; " }, { "identifier": "Camptodactyly-arthropathy-coxa vara-pericarditis syndrome.", "acronym": "CACP.", "accession": "DI-01313", "synonyms": "Arthropathy-camptodactyly syndrome.; Camptodactyly-arthropathy-pericarditis syndrome.; CAP syndrome.; Fibrosing serositis, familial.; Hypertrophic synovitis, congenital familial.; Jacobs syndrome.; PAC syndrome.; Pericarditis-arthropathy-camptodactyly syndrome.; ", "cross_references": "MeSH; D060905.", "definition": "An autosomal recessive disorder characterized by the association of congenital or early-onset camptodactyly and non-inflammatory arthropathy with synovial hyperplasia. Individuals with CACP have normal appearing joints at birth but with advancing age develop joint failure, non-inflammatory synoviocyte hyperplasia and subintimal fibrosis of the synovial capsule. Some patients also manifest progressive coxa vara deformity and/or non-inflammatory pericardial or pleural effusions. ", "keywords": null }, { "identifier": "Campomelic dysplasia.", "acronym": "CMD1.", "accession": "DI-01311", "synonyms": "Acampomelic campomelic dysplasia.; Acampomelic campomelic dysplasia with autosomal sex reversal.; Campomelic dysplasia with autosomal sex reversal.; Camptomelic dysplasia.; CMPD.; CMPD1.; CMPD1/SRA1.; ", "cross_references": "MeSH; D055036.", "definition": "A rare, often lethal, osteochondrodysplasia characterized by congenital bowing and angulation of long bones. Other skeletal defects include unusually small scapula, deformed pelvis and spine, and a missing pair of ribs. Craniofacial and ear defects are common. Most patients die soon after birth due to respiratory distress which has been attributed to hypoplasia of the tracheobronchial cartilage and small thoracic cage. Up to two-thirds of affected XY individuals have genital defects or may develop as phenotypic females. ", "keywords": null }, { "identifier": "Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia.", "acronym": "CDLSMD.", "accession": "DI-05601", "synonyms": null, "cross_references": "MeSH; D001847.", "definition": "A severe form of calvarial doughnut lesions with bone fragility, a rare autosomal dominant disease characterized by low bone density, distinctive X-ray translucencies of the skull, multiple fractures, elevated serum alkaline phosphatase, and dental caries. CDLSMD patients show neonatal onset of fractures, severe short stature, marked cranial sclerosis, and spondylometaphyseal dysplasia. ", "keywords": null }, { "identifier": "Calvarial doughnut lesions with bone fragility.", "acronym": "CDL.", "accession": "DI-05600", "synonyms": "Doughnut lesions of skull, familial.; ", "cross_references": "MeSH; D001847.", "definition": "A rare autosomal dominant bone disease characterized by low bone density, distinctive X-ray translucencies of the skull, multiple fractures, elevated serum alkaline phosphatase, and dental caries. Patients present with childhood onset of primary osteoporosis and typical sclerotic doughnut-shaped lesions in the cranial bones. ", "keywords": "KW-1285:Osteoporosis.; " }, { "identifier": "Calcification of joints and arteries.", "acronym": "CALJA.", "accession": "DI-03016", "synonyms": null, "cross_references": "MeSH; D002114.", "definition": "A condition characterized by adult-onset calcification of the lower extremity arteries, including the iliac, femoral and tibial arteries, and hand and foot capsule joints. Age of onset has been reported as early as the second decade of life, usually involving intense joint pain or calcification in the hands. ", "keywords": null }, { "identifier": "Caffey disease.", "acronym": "CAFYD.", "accession": "DI-01310", "synonyms": "Infantile cortical hyperostosis.; ", "cross_references": "MeSH; D006958.", "definition": "An autosomal dominant disorder characterized by an infantile episode of massive subperiosteal new bone formation that typically involves the diaphyses of the long bones, mandible, and clavicles. The involved bones may also appear inflamed, with painful swelling and systemic fever often accompanying the illness. The bone changes usually begin before 5 months of age and resolve before 2 years of age. ", "keywords": null }, { "identifier": "C1q deficiency 3.", "acronym": "C1QD3.", "accession": "DI-06646", "synonyms": "Complement component C1q deficiency 3.; ", "cross_references": "MeSH; D007105.", "definition": "An autosomal recessive disorder caused by impaired activation of the complement classical pathway. It generally leads to severe immune complex disease characterized by recurrent skin lesions, chronic infections, an increased risk of systemic lupus erythematosus, and glomerulonephritis. ", "keywords": null }, { "identifier": "C1q deficiency 2.", "acronym": "C1QD2.", "accession": "DI-06645", "synonyms": "Complement component C1q deficiency 2.; ", "cross_references": "MeSH; D007105.", "definition": "An autosomal recessive disorder caused by impaired activation of the complement classical pathway. It generally leads to severe immune complex disease characterized by recurrent skin lesions, chronic infections, an increased risk of systemic lupus erythematosus, and glomerulonephritis. ", "keywords": null }, { "identifier": "C1q deficiency 1.", "acronym": "C1QD1.", "accession": "DI-01305", "synonyms": "Complement component C1q deficiency.; ", "cross_references": "MeSH; D007105.", "definition": "An autosomal recessive disorder caused by impaired activation of the complement classical pathway. It generally leads to severe immune complex disease characterized by recurrent skin lesions, chronic infections, an increased risk of systemic lupus erythematosus, and glomerulonephritis. ", "keywords": null }, { "identifier": "Butyrylcholinesterase deficiency.", "acronym": "BCHED.", "accession": "DI-01302", "synonyms": "Acholinesterasemia.; Fluoride-resistant butyrylcholinesterase deficiency Japanese type.; Fluoride-resistant hypocholinesterasemia Japanese type.; Postanesthetic apnea.; Pseudocholinesterase deficiency.; Suxamethonium sensitivity.; ", "cross_references": "MeSH; D008661.", "definition": "An autosomal recessive metabolic condition characterized by increased sensitivity to certain anesthetic drugs, including the muscle relaxants succinylcholine or mivacurium. BCHED results in slower hydrolysis of these drugs and, consequently, a prolonged neuromuscular block, leading to apnea. The duration of the prolonged apnea varies significantly depending on the extent of the enzyme deficiency. ", "keywords": null }, { "identifier": "Buschke-Ollendorff syndrome.", "acronym": "BOS.", "accession": "DI-01301", "synonyms": "Dermatofibrosis lenticularis disseminata with osteopoikilosis.; Dermatoosteopoikilosis.; Disseminated dermatofibrosis with osteopoikilosis.; Osteopathia condensans disseminata.; ", "cross_references": "MeSH; D012873.", "definition": "A disease characterized by osteopoikilosis and disseminated connective-tissue nevi. Osteopoikilosis is a skeletal dysplasia characterized by a symmetric but unequal distribution of multiple hyperostotic areas in different parts of the skeleton. Elastic-type nevi (juvenile elastoma) and collagen-type nevi (dermatofibrosis lenticularis disseminata) have been described in BOS. Skin or bony lesions can be absent in some family members, whereas other relatives may have both. ", "keywords": null }, { "identifier": "Burn-McKeown syndrome.", "acronym": "BMKS.", "accession": "DI-04322", "synonyms": "Oculootofacial dysplasia.; OOFD.; ", "cross_references": "MeSH; D019066.", "definition": "A disease characterized by choanal atresia, sensorineural deafness, cardiac defects, and typical craniofacial dysmorphism consisting of narrow palpebral fissures, coloboma of the lower eyelids, prominent nose with high nasal bridge, short philtrum, cleft lip and/or palate, and large and protruding ears. Intellectual development is normal. ", "keywords": "KW-0209:Deafness.; " }, { "identifier": "Burkitt lymphoma.", "acronym": "BL.", "accession": "DI-02613", "synonyms": "Burkitt tumor.; ", "cross_references": "MeSH; D002051.", "definition": "A form of undifferentiated malignant lymphoma commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass. ", "keywords": null }, { "identifier": "Buratti-Harel syndrome.", "acronym": "BURHAS.", "accession": "DI-06101", "synonyms": null, "cross_references": "MeSH; D065886.", "definition": "An autosomal dominant neurodevelopmental disorder characterized by hypotonia apparent in early infancy, global developmental delay, delayed walking, language and speech delay, impaired intellectual development, and dysmorphic facial features. ", "keywords": "KW-0991:Intellectual disability.; " }, { "identifier": "Bulimia nervosa 2.", "acronym": "BULN2.", "accession": "DI-04567", "synonyms": null, "cross_references": "MeSH; D052018.", "definition": "A psychiatric disorder characterized by eating an unusually large amount of food in a short period of time, followed by inappropriate acts (purging) to avert weight gain. Compensatory behavior includes self-induced vomiting, laxative abuse, and excessive exercise. ", "keywords": null }, { "identifier": "Budd-Chiari syndrome.", "acronym": "BDCHS.", "accession": "DI-01300", "synonyms": "Chiari syndrome.; Membranous obstruction of the inferior vena cava.; MOVC.; ", "cross_references": "MeSH; D006502.", "definition": "A syndrome caused by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava. Obstructions are generally caused by thrombosis and lead to hepatic congestion and ischemic necrosis. Clinical manifestations observed in the majority of patients include hepatomegaly, right upper quadrant pain and abdominal ascites. Budd-Chiari syndrome is associated with a combination of disease states including primary myeloproliferative syndromes and thrombophilia due to factor V Leiden, protein C deficiency and antithrombin III deficiency. Budd-Chiari syndrome is a rare but typical complication in patients with polycythemia vera. ", "keywords": null }, { "identifier": "Bryant-Li-Bhoj neurodevelopmental syndrome 2.", "acronym": "BRYLIB2.", "accession": "DI-06328", "synonyms": null, "cross_references": "MeSH; D065886.", "definition": "An autosomal dominant disorder predominantly characterized by global developmental delay, impaired intellectual development, poor or absent speech, and delayed motor milestones. Clinical manifestations are highly variable, including abnormal head shape, dysmorphic facial features, oculomotor abnormalities, feeding problems, and non-specific brain imaging abnormalities. Additional features may include hearing loss, seizures, short stature, and mild skeletal defects. ", "keywords": "KW-0991:Intellectual disability.; " } ] }