Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| spondylometaphyseal dysplasia, 'corner fracture' type | MONDO_0008479 | [A type of skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated 'corner fractures' of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies).] |
| Fibrolamellar Carcinoma | EFO_1000256 | [A distinctive type of liver cell carcinoma that arises in non-cirrhotic livers and is seen predominantly in young patients. The tumor cells are polygonal and deeply eosinophilic, and are embedded in a fibrous stroma. The prognosis is similar to classical hepatocellular carcinoma that arises in non-cirrhotic livers, and better than hepatocellular carcinoma that arises in cirrhotic livers.] |
| spondylometaphyseal dysplasia, Schmidt type | MONDO_0008478 | [Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet.] |
| Fibrous Hamartoma of Infancy | EFO_1000257 | [A poorly circumscribed neoplasm arising from the soft tissues in infants. It is characterized by the presence of bland fibroblastic spindle cells, collagenous stroma formation, primitive mesenchymal round cells, and mature fat cells. These components combined form a distinct organoid pattern.] |
| mesenchymal hamartoma | MONDO_0024478 | |
| infant | EFO_0001355 | |
| spondylometaphyseal dysplasia, Kozlowski type | MONDO_0008477 | [Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly.] |
| Fibroadenoma | EFO_1000254 | [A benign tumor of the breast characterized by the presence of stromal and epithelial elements. It presents as a painless, solitary, slow growing, firm, and mobile mass. It is the most common benign breast lesion. It usually occurs in women of childbearing age. The majority of fibroadenomas do not recur after complete excision. A slightly increased risk of developing cancer within fibroadenomas or in the breast tissue of patients previously treated for fibroadenomas has been reported.] |
| spondyloepimetaphyseal dysplasia, Strudwick type | MONDO_0008476 | [Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).] |
| Fibroblastic Neoplasm | EFO_1000255 | [A benign, intermediate, or malignant mesenchymal neoplasm characterized by the presence of neoplastic fibroblasts.] |
| fibroblast | CL_0000057 | [A connective tissue cell which secretes an extracellular matrix rich in collagen and other macromolecules. Flattened and irregular in outline with branching processes; appear fusiform or spindle-shaped.] |
| Fallopian Tube Carcinosarcoma | EFO_1000252 | [A carcinosarcoma that arises from the fallopian tube. It usually affects postmenopausal women and presents with abdominal pain, abdominal distension or genital bleeding. The prognosis is usually poor.] |
| Fallopian Tube Serous Adenocarcinoma | EFO_1000253 | [A serous adenocarcinoma that arises from the fallopian tube. It is usually a high grade invasive adenocarcinoma.] |
| fallopian tube adenocarcinoma | MONDO_0002746 | [A carcinoma that arises from glandular epithelial cells of the fallopian tube] |
| spondyloepimetaphyseal dysplasia, Maroteaux type | MONDO_0008473 | [A very rare type of spondyloepiphyseal dysplasia described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis.] |
| Intermediate osteopetrosis | Orphanet_210110 | |
| Alpha-1-antitrypsin deficiency | Orphanet_60 | |
| Other metabolic disease | Orphanet_91088 | |
| Rare genetic respiratory disease | Orphanet_156610 | |
| obsolete_alpha-mannosidosis | Orphanet_61 |