MedGen

Acute hepatic injury resulting from inflammation typically accompanied by increased serum alanine transaminase activity. Etiologies include viral hepatitis, drugs, toxins, and autoimmune disorders. [from HPO]

A locally aggressive mesenchymal neoplasm composed either entirely or partly of an adipocytic proliferation showing at least focal nuclear atypia in both adipocytes and stromal cells. ""Atypical lipomatous tumor"" and ""well-differentiated liposarcoma"" are synonyms describing lesions that are morphologically and genetically identical. Amplification of MDM2 and/or CDK4 is almost always present. (WHO 2020) [from NCI]

Well-differentiated liposarcoma (WDLS), the most common type of liposarcoma (LS; see this term), is a slow growing, painless tumor usually located in the retroperitoneum or the limbs. It is composed of proliferating mature adipocytes. [from ORDO]

A sudden movement downward, usually resulting in injury. [from NCI]

Persistent and long-standing hepatitis C infection. Presenting signs and symptoms may be mild but severe findings likely indicate progression to advanced disease including cirrhosis and liver cancer. [from NCI]

A viral infection caused by the hepatitis C virus. [from NCI]

Hepatitis that lasts for more than six months. [from HPO]

Any disease of sudden onset AND/OR short duration [from SNOMEDCT_US]

Immunodeficiency-112 (IMD112) is an autosomal recessive primary immunologic disorder with variable manifestations beginning in early childhood. Some patients have recurrent bacterial, viral, and fungal infections, including disseminated bacillus Calmette-Guerin (BCG)-related infections, whereas at least 1 patient only presented with BCG-related infections. Immunologic workup shows variable abnormalities affecting lymphoid immunity, including hypogammaglobulinemia, lymphopenia or paradoxical lymphocytosis, and defects in B, T, and NK cell differentiation and function mainly due to disruption of the noncanonical NFKB (see 164011) signaling pathway (Willmann et al., 2014; Schlechter et al., 2017). [from OMIM]

Immunodeficiency-69 (IMD69) is an autosomal recessive disorder characterized by increased susceptibility to disseminated mycobacterial infection, including after BCG (bacille Calmette-Guerin) vaccination. Affected individuals develop fever, hepatosplenomegaly, leukocytosis, and thrombocytosis during the acute infection. There appears to be normal immunologic function against other pathogens, including viruses and bacteria. Immunologic work-up shows normal parameters, but patient T and NK cells fail to produce gamma-interferon (IFNG) when stimulated in vitro (summary by Kerner et al., 2020). IMD69 is a form of mendelian susceptibility to mycobacterial disease (MSMD) (see, e.g., IMD27A; 209950). [from OMIM]

Immunodeficiency-62 (IMD62) is an autosomal recessive primary immunologic disorder clinically characterized by onset of recurrent upper and lower respiratory infections late in the first decade of life. Patients may also have increased viral susceptibility to varicella zoster virus (VZV) or herpes simplex virus (HSV). Laboratory studies show impaired antibody response to vaccination, low levels of circulating memory B cells, and almost undetectable antibodies. There is also evidence of secondary T-cell dysfunction. The disorder may result from disturbed actin cytoskeleton dynamics causing impaired lymphocyte migration (summary by Bouafia et al., 2019). [from OMIM]