Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Cervical Mucinous Adenocarcinoma, Villoglandular Variant	EFO_1000170	[A cervical adenocarcinoma characterized by the presence of a prominent villoglandular pattern.]
villous adenocarcinoma	MONDO_0003204	[An adenocarcinoma characterized by the presence of a villous architectural pattern. It may arise from a villous adenoma.]
mucocutaneous Leishmaniasis	EFO_0007379	[The most common form of leishmaniasis that is transmitted through the bite of female phlebotomine sand flies or after exposure to leishmania parasites. It is characterized by skin lesions at the site of insect bite which typically develop within weeks or months after exposure. The lesions typically progress from small papules to open sores with raised borders and central ulcers which can be covered with scales or crust., A leishmaniasis that involves a chronic inflammatory process involving the nasal, pharyngeal, and laryngeal mucosa, which can lead to extensive tissue destruction, caused by protozoan parasites belonging to the genus Leishmania. The infection is characterized by granulomatous lesion which can destroy upper respiratory tract mucosa.]
Leishmaniasis	EFO_0005044	[Leishmaniasis is a disease caused by protozoan parasites that belong to the genus Leishmania and is transmitted by the bite of certain species of sand fly (subfamily Phlebotominae)., Infectious disease that is transmitted through the bite of hematophagous female phlebotomine sand flies. The clinical spectrum ranges from asymptomatic to clinically overt disease which can remain localized to the skin or disseminate to the upper oral and respiratory mucous membranes or throughout the reticulo-endothelial system. Three main clinical syndromes have been described: visceral (or Kala-Azar; with fever, weight loss, hepatosplenomegaly), cutaneous, and mucocutaneous leishmaniasis (cutaneous or mucocutaneous ulceration).]
mucinous cystadenocarcinoma	EFO_0007378	[An invasive adenocarcinoma characterized by cystic changes and the presence of malignant glandular cells which contain intracytoplasmic mucin. It may arise from the ovary, pancreas, appendix, and lung.]
cystadenocarcinoma	EFO_0006387	[A malignant cystic epithelial neoplasm arising from the glandular epithelium. The malignant epithelial cells invade the stroma. The cystic spaces contain serous or mucinous fluid. Representative examples include ovarian and pancreatic cystadenocarcinomas.]
Morbillivirus infectious disease	EFO_0007377	[Infections with viruses of the genus morbillivirus, family paramyxoviridae. Infections mainly cause acute disease in their hosts, although in some cases infection is persistent and leads to degenerative conditions., A Paramyxoviridae infectious disease that results_in infection in dogs, seals, cattle and humans, has_material_basis_in Morbillivirus.]
obsolete_familial caudal dysgenesis	Orphanet_1768
Chronic Neutrophilic Leukemia	EFO_1000179	[A rare chronic myeloproliferative neoplasm characterized by neutrophilic leukocytosis. There is no detectable Philadelphia chromosome or BCR/ABL fusion gene.]
chronic leukemia	MONDO_0001014	[A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia.]
Dysequilibrium syndrome	Orphanet_1766
Choroid Plexus Papilloma	EFO_1000177	[A benign, slow growing tumor which may cause symptoms by blocking cerebrospinal fluid pathways. It is characterized by the presence of delicate fibrovascular connective tissue fronds covered by a single layer of epithelial cells. Mitotic activity is extremely low. Surgical resection is usually curative. (Adapted from WHO)]
Familial dysautonomia	Orphanet_1764
Rare lacrimal system disease	Orphanet_98602
dual specificity protein phosphatase 3 measurement	EFO_0020336	[The determination of the amount of dual specificity protein phosphatase 3 in a sample]
Chronic Eosinophilic Leukemia, Not Otherwise Specified	EFO_1000178	[A rare myeloproliferative neoplasm characterized by a clonal proliferation of eosinophilic precursors resulting in persistently increased numbers of eosinophils in the blood, marrow and peripheral tissues. Since acute eosinophilic leukemia is at best exceedingly rare, the term eosinophilic leukemia is normally used as a synonym for chronic eosinophilic leukemia. In cases in which it is impossible to prove clonality and there is no increase in blast cells, the diagnosis of "idiopathic hypereosinophilic syndrome" is preferred. (WHO, 2001)]
leukemia	EFO_0000565	[A malignant (clonal) hematologic disorder, involving hematopoietic stem cells and characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood. Leukemias are classified as acute or chronic based on the degree of cellular differentiation and the predominant cell type present. Leukemia is usually associated with anemia, fever, hemorrhagic episodes, and splenomegaly. Common leukemias include acute myeloid leukemia, chronic myelogenous leukemia, acute lymphoblastic or precursor lymphoblastic leukemia, and chronic lymphocytic leukemia. Treatment is vital to patient survival; untreated, the natural course of acute leukemias is normally measured in weeks or months, while that of chronic leukemias is more often measured in months or years.]
Dyschondrosteosis - nephritis	Orphanet_1765
dual specificity tyrosine-phosphorylation-regulated kinase 3 measurement	EFO_0020337	[The determination of the amount of dual specificity tyrosine-phosphorylation-regulated kinase 3 in a sample]
Chondroid Hamartoma	EFO_1000175	[A hamartoma that is characterized by the presence of chondroid elements.]