Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| Borderline Ovarian Endometrioid Tumor | EFO_1000137 | [A neoplasm of low malignant potential arising from the ovary. It is characterized by the presence of glandular or cystic spaces which contain atypical glandular epithelial cells resembling endometrial cells. The surrounding ovarian stroma is often fibrotic. There is no evidence of stromal invasion.] |
| Borderline Ovarian Mucinous Tumor | EFO_1000138 | [A low grade mucinous epithelial neoplasm arising from the ovary. It is characterized by an atypical proliferation of mucinous-type epithelial cells without evidence of stromal invasion. The mucinous epithelial cells may be of intestinal or endocervical type.] |
| Borderline Ovarian Brenner Tumor | EFO_1000135 | [A neoplasm of low malignant potential arising from the ovary. It is characterized by the presence of neoplastic transitional cells with atypical or malignant features without evidence of stromal invasion.] |
| trichodysplasia-xeroderma syndrome | MONDO_0008598 | [Trichodysplasia-xeroderma syndrome is an extremely rare, syndromic hair shaft anomaly characterized by sparse, coarse, brittle, excessively dry and slow-growing scalp hair, sparse axillary and pubic hair, sparse or absent eyelashes and eyebrows and dry skin. Hair shaft analysis shows pili torti, longitudinal splitting, grooves, peeling and scaling. There have been no further descriptions in the literature since 1987.] |
| Borderline Ovarian Clear Cell Tumor | EFO_1000136 | [An epithelial neoplasm with low malignant potential affecting the ovary. It is characterized by the presence of clear or hobnail cells. In some cases, the cells may display nuclear atypia and prominent nucleoli. When such cells are present, they remain confined to the glands. There is no evidence of stromal invasion.] |
| trichorhinophalangeal syndrome, type III | MONDO_0008597 | [A trichorhinophalangeal syndrome caused by mutations in TRPS1 characterized by the presence of severe brachydactyly, due to short metacarpals, and severe short stature.] |
| trichorhinophalangeal syndrome type I or III | MONDO_0019176 | [Trichorhinophalangeal syndromes (TRPS) type 1 and 3 are malformation syndromes characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses, as well as severe generalized shortening of all phalanges, metacarpals and metatarsal bones.] |
| Borderline Exocrine Pancreatic Neoplasm | EFO_1000133 | [A group of epithelial neoplasms that arise from the exocrine pancreatic tissue and have the potential to evolve into invasive malignant neoplasms. This group includes the pancreatic intraepithelial neoplasias, non-invasive pancreatic mucinous-cystic neoplasms, pancreatic intraductal papillary-mucinous neoplasms, and pancreatic intraductal tubulopapillary neoplasms.] |
| trichorhinophalangeal syndrome type I | MONDO_0008596 | [An autosomal dominant malformation syndrome caused by mutations in TRPS1 characterized by distinctive craniofacial and skeletal abnormalities. TRPS I patients have sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature.] |
| Borderline Fallopian Tube Serous Neoplasm | EFO_1000134 | [A neoplasm of low malignant potential arising from the fallopian tube. It is characterized by an atypical proliferation of serous-type epithelial cells without evidence of stromal invasion.] |
| Blast Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive | EFO_1000131 | [An advanced phase of chronic myelogenous leukemia. It is characterized by: 1. the presence of blasts in the peripheral blood or bone marrow that are at least 20% of the peripheral blood white cells or of the nucleated cells in the bone marrow respectively, or 2. an extramedullary proliferation of blasts, and/or 3. when there are large aggregates and clusters of blasts in the bone marrow biopsy specimen (adapted from WHO, 2001).] |
| chronic myelogenous leukemia | EFO_0000339 | [A chronic myeloproliferative neoplasm characterized by the expression of the BCR-ABL1 fusion gene. It presents with neutrophilic leukocytosis. It can appear at any age, but it mostly affects middle aged and older individuals. Patients usually present with fatigue, weight loss, anemia, night sweats, and splenomegaly. If untreated, it follows a biphasic or triphasic natural course; an initial indolent chronic phase which is followed by an accelerated phase, a blast phase, or both. Allogeneic stem cell transplantation and tyrosine kinase inhibitors delay disease progression and prolong overall survival.] |
| myeloid cell | CL_0000763 | [A cell of the monocyte, granulocyte, mast cell, megakaryocyte, or erythroid lineage.] |
| Bone Epithelioid Hemangioma | EFO_1000132 | [A bone hemangioma characterized by the presence of epithelioid endothelial cells, and eosinophilic and lymphocytic infiltrates.] |
| mitochondrial complex 1 deficiency, nuclear type 35 | MONDO_0033560 | |
| Borderline Ovarian Serous Tumor | EFO_1000139 | [A low grade serous epithelial neoplasm arising from the ovary. It is characterized by an atypical proliferation of serous-type epithelial cells without evidence of stromal invasion. It is often asymptomatic but rarely it may present with abdominal pain or abdominal enlargement due to rupture or torsion.] |
| Borderline Ovarian Surface Epithelial-Stromal Tumor | EFO_1000140 | [A low grade epithelial tumor arising from the ovary. It is characterized by an atypical proliferation of epithelial cells. There is no evidence of stromal invasion., An epithelial tumor arising from the ovary without definitive morphologic characteristics of malignancy.] |
| ovarian serous tumor | MONDO_0037255 | [A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of neoplastic epithelial cells that, in well differentiated tumors, resemble the epithelial cells of the fallopian tube and, in poorly differentiated tumors, show anaplastic features. Approximately thirty to fifty percent of the tumors are bilateral. Grossly, the better differentiated tumors consist of cystic masses, usually unilocular, containing a clear but sometimes viscous fluid. Papillary formations are often present. The more malignant tumors tend to be solid and invasive, with areas of necrosis and hemorrhage.] |
| combined oxidative phosphorylation deficiency 48 | MONDO_0033566 | |
| oocyte maturation defect 9 | MONDO_0033565 |