{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=3080&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=3040&ordering=-synonyms","results":[{"identifier":"Cardiofacioneurodevelopmental syndrome.","acronym":"CFNDS.","accession":"DI-05989","synonyms":null,"cross_references":"MeSH; D000015.","definition":"An autosomal recessive disorder characterized by global developmental delay, feeding difficulties, microcephaly and dysmorphic features. Additional features include cleft lip, cleft palate, variable cardiac defects, and abdominal situs inversus with asplenia. Brain imaging reveals cerebellar hypoplasia. ","keywords":"KW-1186:Ciliopathy.; "},{"identifier":"Immunodeficiency 119.","acronym":"IMD119.","accession":"DI-06903","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal recessive immunologic disorder characterized by childhood-onset of recurrent respiratory tract infections, susceptibility to chronic DNA-based viral infections, hypogammaglobulinemia, and panlymphopenia. ","keywords":null},{"identifier":"Intellectual developmental disorder, autosomal dominant 30, with speech delay and behavioral abnormalities.","acronym":"MRD30.","accession":"DI-04257","synonyms":null,"cross_references":"MeSH; D008607.","definition":"A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD30 patients manifest intellectual disability, speech delay, and subtle facial dysmorphisms, including hypertelorism, ptosis, and a wide mouth. Behavioral abnormalities, including attention deficit- hyperactivity disorder, autistic features, and aggression are commonly observed. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Immunodeficiency 12.","acronym":"IMD12.","accession":"DI-03911","synonyms":null,"cross_references":"MeSH; D007153.","definition":"A primary immunodeficiency characterized by onset in infancy of recurrent bacterial and candidal infections resulting in bronchiectasis and growth delay. Manifestations include mastoiditis, aphthous ulcers, cheilitis, gingivitis, esophagitis, gastritis, duodenitis, and meningitis. Levels of absolute lymphocytes and serum immunoglobulins are normal, but specific antibody titers are low despite immunization, and T-cells show impaired proliferative responses to mitogens. ","keywords":null},{"identifier":"Immunodeficiency 120.","acronym":"IMD120.","accession":"DI-06904","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal recessive immunologic disorder manifesting in early childhood with recurrent upper and lower respiratory tract infections, lymphopenia, and hypogammaglobulinemia. Affected individuals may also develop persistent viral infections, particularly of the herpes family. Additional variable features include hearing loss, speech delay, short stature, and mildly impaired intellectual development. ","keywords":null},{"identifier":"Microcephaly 23, primary, autosomal recessive.","acronym":"MCPH23.","accession":"DI-05236","synonyms":null,"cross_references":"MeSH; D008831.","definition":"A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. ","keywords":"KW-0905:Primary microcephaly.; "},{"identifier":"Cardiomyopathy, dilated, 1AA, with or without left ventricular non-compaction.","acronym":"CMD1AA.","accession":"DI-00211","synonyms":null,"cross_references":"MeSH; D002311.","definition":"A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ","keywords":"KW-0122:Cardiomyopathy.; "},{"identifier":"Immunodeficiency 14B, autosomal recessive.","acronym":"IMD14B.","accession":"DI-06085","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal recessive, primary immunodeficiency characterized by recurrent sinopulmonary infections apparent in early childhood. Some patients may develop inflammatory bowel disease or osteomyelitis. Immunological features include hypogammaglobulinemia, decreased levels of B cells, and evidence of impaired immune-mediated cytotoxicity and defective T-cell function. ","keywords":null},{"identifier":"Immunodeficiency 15A.","acronym":"IMD15A.","accession":"DI-05387","synonyms":null,"cross_references":"MeSH; D016511.","definition":"An autosomal dominant primary immunodeficiency disorder characterized by lymphopenia, inflammation and immune activation of both CD4+ and CD8+ T cells. Patients suffer from recurrent respiratory tract infections, oral candidiasis, and otitis media. ","keywords":null},{"identifier":"Immunodeficiency 15B.","acronym":"IMD15B.","accession":"DI-04000","synonyms":null,"cross_references":"MeSH; D016511.","definition":"An autosomal recessive primary immunodeficiency disorder characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections and failure to thrive. Laboratory studies show hypo- or agammaglobulinemia with relatively normal numbers of B and T-cells, and impaired differentiation and activation of immune cells. ","keywords":"KW-0705:SCID.; "},{"identifier":"Craniofacial anomalies and anterior segment dysgenesis syndrome.","acronym":"CAASDS.","accession":"DI-03261","synonyms":null,"cross_references":"MeSH; D019465.","definition":"A disorder with extremely variable expressivity. Clinical features include wide interpupillary distance, abnormal corneal endothelium, unusual pinnae, partially to completely empty sella turcica, posterior fossa cyst, anterior encephalocele, and/or hydrocephalus. ","keywords":null},{"identifier":"Lethal congenital contracture syndrome 10.","acronym":"LCCS10.","accession":"DI-04766","synonyms":null,"cross_references":"MeSH; D001176.","definition":"A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non- progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. ","keywords":null},{"identifier":"Cardiomyopathy, dilated, 1BB.","acronym":"CMD1BB.","accession":"DI-02483","synonyms":null,"cross_references":"MeSH; D002311.","definition":"A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ","keywords":"KW-0122:Cardiomyopathy.; "},{"identifier":"Juvenile primary lateral sclerosis.","acronym":"JPLS.","accession":"DI-00616","synonyms":null,"cross_references":"MeSH; D016472.","definition":"A neurodegenerative disorder which is closely related to but clinically distinct from amyotrophic lateral sclerosis. It is a progressive paralytic disorder which results from dysfunction of the upper motor neurons while the lower neurons are unaffected. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Immunodeficiency 20.","acronym":"IMD20.","accession":"DI-04050","synonyms":null,"cross_references":"MeSH; D007153.","definition":"A rare autosomal recessive primary immunodeficiency characterized by functional deficiency of NK cells. Affected individuals typically present with severe herpes viral infections, particularly Epstein Barr virus (EBV), and human papillomavirus (HPV). ","keywords":null},{"identifier":"Craniofacial dysmorphism, skeletal anomalies and impaired intellectual development syndrome 2.","acronym":"CFSMR2.","accession":"DI-06460","synonyms":null,"cross_references":"MeSH; D019465.","definition":"An autosomal recessive disorder characterized by flat face, low-set ears, and cleft lip and palate, as well as costovertebral anomalies including bifid and fused ribs, vertebral segmentation defects, and scoliosis. Intellectual delay can be severe, with absent speech. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Immunodeficiency 22.","acronym":"IMD22.","accession":"DI-04079","synonyms":null,"cross_references":"MeSH; D007153.","definition":"A primary immunodeficiency characterized by T-cell dysfunction. Affected individuals present with lymphopenia, recurrent infections, severe diarrhea, and failure to thrive. ","keywords":null},{"identifier":"Cardiomyopathy, dilated, 1R.","acronym":"CMD1R.","accession":"DI-00223","synonyms":null,"cross_references":"MeSH; D002311.","definition":"A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ","keywords":"KW-0122:Cardiomyopathy.; "},{"identifier":"Immunodeficiency 24.","acronym":"IMD24.","accession":"DI-04159","synonyms":null,"cross_references":"MeSH; D007153.","definition":"A life-threatening immunodeficiency, characterized by an impaired capacity of activated T and B cells to proliferate in response to antigen receptor-mediated activation. Patients have early onset of severe chronic viral infections, mostly caused by herpes viruses, including EBV and varicella zooster virus (VZV), and also suffer from recurrent encapsulated bacterial infections, a spectrum of infections typical of a combined deficiency of adaptive immunity. ","keywords":null},{"identifier":"Tessadori-Bicknell-Van Haaften neurodevelopmental syndrome 1.","acronym":"TEBIVANED1.","accession":"DI-06350","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal dominant disorder with onset in infancy, characterized by poor overall growth, microcephaly, hypotonia, profound global developmental delay, impaired intellectual development, poor or absent speech, and characteristic dysmorphic facial features, including hypertelorism and abnormal nose. Other variable neurologic and systemic features may also occur. ","keywords":"KW-0991:Intellectual disability.; "}]}