Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| neoplastic syndrome | MONDO_0021058 | [A broad classification for disorders in which the development of neoplasms typically occur in association with a characteristic set of signs or symptoms. These disorders may be inherited or acquired.] |
| bone marrow cancer | MONDO_0021138 | [Malignant neoplasms that either originate from the bone marrow (e.g. myeloid leukemias) or involve the bone marrow as secondary-metastatic tumors (e.g. metastatic carcinomas to the bone marrow). --2003] |
| oral squamous cell carcinoma | EFO_0000199 | [A squamous cell carcinoma arising from the oral cavity. It affects predominantly adults in their fifth and sixth decades of life and is associated with alcohol and tobacco use. Human papillomavirus is present in approximately half of the cases. It is characterized by a tendency to metastasize early to the lymph nodes. When the tumor is small, patients are often asymptomatic. Physical examination may reveal erythematous or white lesions or plaques. The majority of patients present with signs and symptoms of locally advanced disease including mucosal ulceration, pain, difficulty with speaking, chewing, and swallowing, bleeding, weight loss, and neck swelling. Patients may also present with swollen neck lymph nodes without any symptoms from the oropharyngeal tumor. The most significant prognostic factors are the size of the tumor and the lymph nodes status.] |
| oral cavity carcinoma | MONDO_0044925 | [A carcinoma arising in the oral cavity. Most oral cavity carcinomas are squamous cell carcinomas of the tongue, buccal mucosa, or gums. Less frequent morphologic variants include mucoepidermoid carcinoma and adenocarcinoma.] |
| lip and oral cavity squamous cell carcinoma | MONDO_0044710 | [A squamous cell carcinoma arising from the lip or the oral cavity. The oral cavity squamous cell carcinoma usually arises from the buccal mucosa, tongue, or gums. It occurs predominantly in adults who use tobacco and alcohol and has a tendency to metastasize early to lymph nodes.] |
| Ehlers-Danlos syndrome type 2 | Orphanet_90318 | |
| Ehlers-Danlos syndrome, classic type | MONDO_0007522 | [Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome that affects the connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility.] |
| homostachydrine | CHEBI_5757 | [An ammonium betaine that is pipecolic acid zwitterion with methyl groups substituted for the two hydrogens at the nitrogen. It is found in in fruits, seeds, and leaves of orange, lemon, and bergamot.] |
| Spartina maritima | NCBITaxon_49786 | |
| Spartina anglica | NCBITaxon_49785 | |
| obsolete_maternal uniparental disomy of chromosome 1 | Orphanet_251009 | |
| obsolete_hereditary geniospasm | Orphanet_53372 | |
| campesterol | CHEBI_28623 | |
| steroid | CHEBI_35341 | [Any of naturally occurring compounds and synthetic analogues, based on the cyclopenta[a]phenanthrene carbon skeleton, partially or completely hydrogenated; there are usually methyl groups at C-10 and C-13, and often an alkyl group at C-17. By extension, one or more bond scissions, ring expansions and/or ring contractions of the skeleton may have occurred. Natural steroids are derived biogenetically from triterpenoids.] |
| HIV-1 infection | EFO_0000180 | [The type species of lentivirus and the etiologic agent of acquired immunodeficiency syndrome (AIDS). It is characterized by its cytopathic effect and affinity for the T4-lymphocyte.] |
| obsolete_Cockayne syndrome type 3 | Orphanet_90324 | [Cockayne syndrome type 3 (CS3) is the mild form of Cockayne syndrome (CS, see this term) presenting later in childhood and characterized by clinical features similar to those associated with CS1 (see this term) but with normal growth and cognitive development.] |
| obsolete_Cockayne syndrome type 1 | Orphanet_90321 | [Cockayne syndrome type 1 (CS1) is the classical moderate form of Cockayne syndrome (see this term) presenting in early childhood (1-2 years of age) and characterized by the progressive nature of growth failure, impairment of vision, hearing, a characteristic facial appearance, premature aging, photosensitivity and neurological dysfunction leading to severe intellectual disability with death occurring typically in the second decade as a result of progressive neurologic degeneration.] |
| obsolete_paternal uniparental disomy of chromosome 1 | Orphanet_251004 | |
| obsolete_infiltrating ductal carcinoma | EFO_0000184 | |
| obsolete_infiltrating lobular carcinoma | EFO_0000185 |