{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5660&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5620&ordering=synonyms","results":[{"identifier":"Immunodeficiency 42.","acronym":"IMD42.","accession":"DI-04562","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal recessive primary immunodeficiency characterized by increased susceptibility to concomitant candidiasis and mycobacteriosis. Candidiasis is characterized by persistent and/or recurrent infections of the skin, nails and mucous membranes caused by organisms of the genus Candida. Mycobacteriosis is characterized by infections caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine, environmental non- tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. IMD42 patients vaccinated with BCG are particularly at risk for developing disseminated mycobacterial infections. ","keywords":null},{"identifier":"Autism 15.","acronym":"AUTS15.","accession":"DI-02792","synonyms":null,"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. ","keywords":"KW-1269:Autism.; "},{"identifier":"Immunodeficiency 44.","acronym":"IMD44.","accession":"DI-04585","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal recessive disorder characterized by increased susceptibility to viral infection, resulting in some patients in encephalopathy and infection-associated neurologic decompensation. ","keywords":null},{"identifier":"Immunodeficiency 45.","acronym":"IMD45.","accession":"DI-04586","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal recessive disorder characterized by increased susceptibility to viral infection due to impaired antiviral immunity, resulting in infection-associated encephalopathy. Affected individuals are at risk for developing fatal encephalitis after routine measles/mumps/rubella (MMR) vaccination. ","keywords":null},{"identifier":"Immunodeficiency 46.","acronym":"IMD46.","accession":"DI-04634","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal recessive primary immunodeficiency disorder characterized by early-onset chronic diarrhea, recurrent infections, hypo- or agammaglobulinemia, normal lymphocyte counts, intermittent neutropenia, and intermittent thrombocytopenia. ","keywords":null},{"identifier":"Auriculocondylar syndrome 4.","acronym":"ARCND4.","accession":"DI-06729","synonyms":null,"cross_references":"MeSH; D018640.","definition":"An autosomal dominant form of auriculocondylar syndrome, a craniofacial malformation syndrome characterized by variable mandibular anomalies, including mild to severe micrognathia, temporomandibular joint ankylosis, cleft palate, and a characteristic ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark (question-mark ear). Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia. Glossoptosis, masticatory abnormalities, orthodontic problems, and malocclusion occur in a majority of affected subjects. ","keywords":null},{"identifier":"Auriculocondylar syndrome 3.","acronym":"ARCND3.","accession":"DI-04052","synonyms":null,"cross_references":"MeSH; D018640.","definition":"An autosomal recessive form of auriculocondylar syndrome, a craniofacial malformation syndrome characterized by variable mandibular anomalies, including mild to severe micrognathia, temporomandibular joint ankylosis, cleft palate, and a characteristic ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark (question-mark ear). Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia. Glossoptosis, masticatory abnormalities, orthodontic problems, and malocclusion occur in a majority of affected subjects. ","keywords":null},{"identifier":"Immunodeficiency 52.","acronym":"IMD52.","accession":"DI-05013","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal recessive primary immunodeficiency characterized by T- cell abnormalities, resulting in severe combined immunodeficiency, autoimmune disease, progressive lymphopenia and hypogammaglobulinemia, and lymphoproliferation with splenomegaly. Patients develop severe recurrent infections from infancy. ","keywords":null},{"identifier":"Immunodeficiency 53.","acronym":"IMD53.","accession":"DI-05045","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal recessive primary immunodeficiency apparent from early infancy and resulting in recurrent infections, severe autoimmune skin disease rheumatoid arthritis, and failure to thrive. Immunologic workup shows increased CD4+/CD8+ ratio, impaired T-cell proliferative response to multiple antigen, T-cell developmental and functional defects, and impaired ability to produce specific immunoglobulins. ","keywords":null},{"identifier":"Immunodeficiency 55.","acronym":"IMD55.","accession":"DI-05177","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal recessive primary immunodeficiency characterized by chronic neutropenia, natural killer cell deficiency, recurrent viral and bacterial infections, and intrauterine growth retardation. Postnatal growth retardation is present in most patients. ","keywords":null},{"identifier":"Auriculocondylar syndrome 2B.","acronym":"ARCND2B.","accession":"DI-06730","synonyms":null,"cross_references":"MeSH; D018640.","definition":"An autosomal recessive form of auriculocondylar syndrome, a craniofacial malformation syndrome characterized by variable mandibular anomalies, including mild to severe micrognathia, temporomandibular joint ankylosis, cleft palate, and a characteristic ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark (question-mark ear). Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia. Glossoptosis, masticatory abnormalities, orthodontic problems, and malocclusion occur in a majority of affected subjects. ","keywords":null},{"identifier":"Immunodeficiency 58.","acronym":"IMD58.","accession":"DI-05329","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal recessive primary immunodeficiency characterized by a variety of infectious diseases, including mycobacterial diseases, mucocutaneous candidiasis, silent but detectable EBV viremia, and staphylococcal diseases. Patients suffer from dermatitis, esophagitis, recurrent skin abscesses and chest infections. Immunologic analysis shows defective T-cell function and deficient CD3/CD28 stimulation responses in both CD4+ and CD8+ T cells. B-cell function may also be impaired. ","keywords":null},{"identifier":"Auriculocondylar syndrome 2A.","acronym":"ARCND2A.","accession":"DI-03468","synonyms":null,"cross_references":"MeSH; D018640.","definition":"An autosomal dominant form of auriculocondylar syndrome, a craniofacial malformation syndrome characterized by variable mandibular anomalies, including mild to severe micrognathia, temporomandibular joint ankylosis, cleft palate, and a characteristic ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark (question-mark ear). Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia. Glossoptosis, masticatory abnormalities, orthodontic problems, and malocclusion occur in a majority of affected subjects. ","keywords":null},{"identifier":"Immunodeficiency 62.","acronym":"IMD62.","accession":"DI-05587","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal recessive, primary immunologic disorder characterized by recurrent severe respiratory tract infections and bronchiectasis, due to antibody deficiency. Affected individuals have an abnormal B cell immunophenotype, with low levels of circulating memory B cells. ","keywords":null},{"identifier":"Auditory neuropathy, autosomal dominant 3.","acronym":"AUNA3.","accession":"DI-06395","synonyms":null,"cross_references":"MeSH; D006319.","definition":"A form of sensorineural hearing loss with absent or severely abnormal auditory brainstem response, in the presence of normal cochlear outer hair cell function and normal otoacoustic emissions. Auditory neuropathies result from a lesion in the area including the inner hair cells, connections between the inner hair cells and the cochlear branch of the auditory nerve, the auditory nerve itself and auditory pathways of the brainstem. Affected individuals typically respond to sound but have difficulties in speech discrimination. AUNA3 is a late- onset, progressive form. ","keywords":"KW-0622:Neuropathy.; KW-1010:Non-syndromic deafness.; "},{"identifier":"Immunodeficiency 64 with lymphoproliferation.","acronym":"IMD64.","accession":"DI-05632","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal recessive primary immunodeficiency characterized by recurrent bacterial, viral and fungal infections, variably decreased numbers of T cells, deficiencies of B and NK cells, and increased susceptibility to Epstein-Barr virus (EBV) infection. Patients may develop lymphoproliferation or EBV-associated lymphoma. Some patients may develop features of autoimmunity. ","keywords":null},{"identifier":"Immunodeficiency 66.","acronym":"IMD66.","accession":"DI-05815","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal recessive primary immunologic disorder characterized by recurrent viral infections from infancy, associated with impaired neutrophil migration due to defects in cytoskeletal actin dynamics. ","keywords":null},{"identifier":"Immunodeficiency 70.","acronym":"IMD70.","accession":"DI-05887","synonyms":null,"cross_references":"MeSH; D007153.","definition":"A primary immunodeficiency clinically characterized by human papillomavirus-associated warts on the hands, feet and face, recurrent bacterial infections, and autoinflammatory features, such as colitis, celiac disease, and retinal vasculitis. Immunologic workup shows decreased CD4+ T cells, decreased CD19+ B cells, and hypogammaglobulinemia. IMD70 inheritance is autosomal dominant with incomplete penetrance. ","keywords":null},{"identifier":"Immunodeficiency 72 with autoinflammation and lymphoproliferation.","acronym":"IMD72.","accession":"DI-05896","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal recessive immunologic disorder characterized by onset in the first year of life, recurrent bacterial and viral skin infections, severe respiratory tract infections leading to pneumonia and bronchiectasis, and poor specific antibody responses. Patients also exhibit atopic and inflammatory disease alongside chronic hepatosplenomegaly, lymphoproliferation and lymphadenopathy, and autoimmune manifestations. ","keywords":null},{"identifier":"Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia.","acronym":"IMD73B.","accession":"DI-05898","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal dominant immunologic disorder characterized by respiratory infections, cellulitis, severe invasive infections, B- and T-cell lymphopenia, and impaired neutrophil chemotaxis. Disease onset is in infancy or early childhood. ","keywords":null}]}