Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| SPOAN syndrome | MONDO_0012297 | [A rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. SPOAN syndrome is caused by mutations in the KLC2 gene (11q13.1), encoding kinesin light chain 2.] |
| Erythema | HP_0010783 | [Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.] |
| Vascular skin abnormality | HP_0011276 | |
| conidiophore | BTO_0000281 | [A specialized fungal hypha that produces conidia.] |
| neonatal aspiration syndrome | MONDO_0024263 | [Aspiration of meconium, blood, amniotic fluid or gastric contents around the time of delivery resulting in clinical symptoms from airway obstruction, parenchymal injury, and ventilation-perfusion mismatch. This may lead to persistent pulmonary hypertension in the newborn.] |
| Kluyveromyces lactis | NCBITaxon_28985 | |
| enuresis | MONDO_0024290 | [An elimination disorder characterized by urinary incontinence, whether involuntary or intentional, which is not due to a medical condition and which occurs at or beyond an age at which continence is expected (usually 5 years).] |
| Sensorimotor neuropathy | HP_0007141 | |
| vitamin D-dependent rickets | MONDO_0024299 | |
| vascular neoplasm | MONDO_0024296 | [A benign, intermediate, or malignant neoplasm arising from vascular tissue including arteries, veins, venous sinuses, lymphatic vessels, arterioles and capillaries. It may occur in essentially any body location and is characterized by the presence of vascular channel formation and endothelial cells.] |
| vitamin deficiency disorder | MONDO_0024298 | [A disorder that is caused by the deficiency of a vitamin. The deficiency may result from either suboptimal vitamin intake or conditions that prevent the vitamin's use or absorption in the body. Representative examples include beriberi caused by thiamine deficiency, scurvy caused by vitamin C deficiency, and rickets caused by vitamin D deficiency.] |
| organelle organization | GO_0006996 | [ A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an organelle within a cell. An organelle is an organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane. ] |
| polyarticular arthritis | MONDO_0024280 | [An arthritis affecting five or more separate joints.] |
| mucinous ovarian cancer | MONDO_0024282 | [An invasive malignant neoplasm that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract. It includes mucinous adenocarcinoma and mucinous adenocarcinofibroma.] |
| ovarian mucinous neoplasm | MONDO_0003756 | [A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract.] |
| congenital vascular malformation | MONDO_0024287 | [A congenital abnormality of the arteries and veins, lymph vessels or veins and lymph vessels.] |
| obsolete_minimal pigment oculocutaneous albinism type 1 | Orphanet_352734 | |
| obsolete_oculocutaneous albinism type 1 | Orphanet_352731 | |
| Zaire ebolavirus - Gabon (1994-1997) | NCBITaxon_128947 | |
| obsolete_46,XY disorder of gonadal development | Orphanet_325118 |