Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
inherited oocyte maturation defect	MONDO_0014769
oocyte maturation defect 8	MONDO_0033564
retinitis pigmentosa 90	MONDO_0033563
retinitis pigmentosa	MONDO_0019200	[Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.]
neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia	MONDO_0033562
deeah syndrome	MONDO_0033561
lentigo	MONDO_0021582	[A flat, benign, pigmented spot on the skin caused by excessive deposition of melanin from an increased number of melanocytes in the cell layer directly above the basement membrane of the epidermis. Formation is usually related to sun exposure during youth, and the lesions do not typically progress to malignancy.]
melanocytic neoplasm	MONDO_0021143
Brain Stem Glioblastoma	EFO_1000141	[A malignant, clinically aggressive astrocytic tumor (glioma) localized in the brain stem. -- 2003]
brain glioblastoma	EFO_0006545	[A WHO grade IV malignant astrocytic tumor that arises from the brain, usually the cerebral hemispheres. It is characterized by the presence of poorly differentiated astrocytes, cellular polymorphism, nuclear atypia, and increased mitotic activity. The prognosis is poor.]
intellectual developmental disorder with seizures and language delay	MONDO_0033559
autoinflammation, immune dysregulation, and eosinophilia	MONDO_0033558
Calcifying Fibrous Tumor	EFO_1000148	[A benign well-circumscribed paucicellular lesion arising from the soft tissues. It is characterized by the presence of fibroblasts, lymphoplasmacytic infiltrates, collagenous stroma formation, psammoma bodies, and dystrophic calcifications.]
Calcifying Nested Epithelial Stromal Tumor of the Liver	EFO_1000149	[A rare malignant tumor that arises from the liver and occurs in children. It is characterized by the presence of nested epithelioid and spindle cells. Desmoplasia, calcifications, and bone formation may also be present.]
Breast Mucosa-Associated Lymphoid Tissue Lymphoma	EFO_1000146	[An extranodal marginal zone B-cell lymphoma of mucosa associated lymphoid tissue that arises from the breast as a primary tumor.]
C-Cell Hyperplasia	EFO_1000147	[Neoplastic or reactive proliferation of the C-cells in the thyroid gland. The neoplastic C-cell hyperplasia is associated with familial medullary thyroid gland carcinoma and multiple endocrine neoplasia type II and IIB. Morphologically, it is characterized by the presence of clusters of intrafollicular C-cells with atypical cytologic features. The reactive C-cell hyperplasia is also known as physiological or secondary C-cell hyperplasia and it is associated with conditions that cause hypercalcemia (e.g., hyperparathyroidism).]
Breast Diffuse Large B-Cell Lymphoma	EFO_1000144	[A diffuse large B-cell lymphoma that arises from the breast. It is the most common type of primary breast lymphoma.]
breast lymphoma	MONDO_0003661	[A lymphoma that arises from the breast. There is no history of extramammary breast lymphoma and ipsilateral axillary lymph node involvement does not exclude the diagnosis of primary breast lymphoma. Most patients present with a painless breast lump. The vast majority of cases are B-cell non-Hodgkin lymphomas. Diffuse large B-cell lymphoma, follicular lymphoma, and extranodal marginal zone B-cell lymphoma of mucosa associated lymphoid tissue are the most common types of primary non-Hodgkin lymphoma of the breast. Primary Hodgkin lymphoma of the breast is rare.]
breast fibrosis	EFO_1000145	[Breast fibrocystic change characterized by the prominence of fibrotic changes in the parenchyma.]
non-proliferative fibrocystic change of the breast	MONDO_0003724	[Breast fibrocystic change characterized by the absence of epithelial cell hyperplasia.]