Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| malignant epithelioid mesothelioma | EFO_0006452 | [A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic cells with an epithelioid appearance. In the majority of cases, the neoplastic epithelioid cells lack significant cytologic atypia; mitotic figures are infrequently seen. In a minority of cases, the neoplastic cells are poorly differentiated and there is evidence of nuclear atypia and increased mitotic activity.] |
| Abnormality of the ureter | HP_0000069 | [An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.] |
| obsolete_syndromic urogenital tract malformation | Orphanet_165707 | |
| mitochondrial complex 4 deficiency, nuclear type 21 | MONDO_0033656 | |
| hyper-IgE syndrome | MONDO_0018037 | [A condition that is characterized by elevated serum IgE, dermatitis, and respiratory infections.] |
| hyperimmunoglobulin syndrome | MONDO_0002468 | |
| Ambiguous genitalia | HP_0000062 | [A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4.] |
| obsolete disorder involving pain | MONDO_0021668 | |
| mitochondrial complex 4 deficiency, nuclear type 20 | MONDO_0033655 | |
| infectious disease or post-infectious disorder | MONDO_0100336 | [A disease or disorder that result from the presence and activity of a microbial, viral, fungal or parasitic agent, or a disorder that follows infection with an infectious agent but is distinct from the usual manifestations of the infection itself.] |
| selective IgM deficiency | MONDO_0018039 | [Selective IgM deficiency (SIgMD) is a rare immune disorder that has been reported in association with serious infections, such as bacteria in the blood (bacteremia, also known as septicemia). Although SIgMD was first described in two children, the disorder can occur in babies, children, and adults. It is characterized by isolated absence or deficiency of immunoglobulin M (IgM), normal levels of other immunoglobulins, and recurrent infections (especially by Staphylococcus aureus, Streptococcus pneumoniae, Hemophilus influenza). The cause is still unclear. The diagnosis includes isolated deficiency ofIgM in the blood and no other immunodeficiency or secondary cause of low IgM. Patients with SIgMD and recurrent infections are managed like other antibody defects and deficiencies. It is suggested that people with SIgMD have pneumococcal and meningococcal vaccines, people with SIgMD who have recurrent infections should have prophylactic antibiotics and immune globulin replacement.] |
| dysgammaglobulinemia | MONDO_0001342 | [An immunologic deficiency state characterized by selective deficiencies of one or more, but not all, classes of immunoglobulins.] |
| immunodeficiency predominantly affecting antibody production | MONDO_0015132 | |
| mitochondrial complex 4 deficiency, nuclear type 19 | MONDO_0033654 | |
| mitochondrial complex 4 deficiency, nuclear type 18 | MONDO_0033653 | |
| mitochondrial complex 4 deficiency, nuclear type 17 | MONDO_0033652 | |
| obsolete other immunodeficiency syndromes due to defects in innate immunity | MONDO_0018033 | |
| mitochondrial complex 4 deficiency, nuclear type 16 | MONDO_0033651 | |
| obsolete syndrome with combined immunodeficiency | MONDO_0018035 | |
| mitochondrial complex 4 deficiency, nuclear type 15 | MONDO_0033650 |