Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
partial deletion of the long arm of chromosome 11	MONDO_0016910	[A cytogenetic abnormality that refers to the allelic loss of all or part of the long arm of chromosome 11.]
platelet-type bleeding disorder 17	MONDO_0008553	[An autosomal dominant condition caused by mutation(s) in the GFI1B gene, encoding zinc finger protein Gfi-1b. It is characterized by a tendency for increased bleeding due to abnormal platelet function.]
thoracolaryngopelvic dysplasia	MONDO_0008551	[A short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis.]
respiratory malformation	MONDO_0015930
short rib dysplasia	MONDO_0019691
thrombophilia due to activated protein C resistance	MONDO_0008560	[A hemostatic disorder characterized by a poor anticoagulant response to activated protein C (APC). The activated form of Factor V (Factor Va) is more slowly degraded by activated protein C. Factor V Leiden mutation (R506Q) is the most common cause of APC resistance.]
hamartoma of skin appendage	MONDO_0021539	[A hamartoma (disease) that involves the cutaneous appendage.]
epidermal appendage tumor	MONDO_0002297	[A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands.]
myomatous neoplasm	MONDO_0021545	[A benign or malignant mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle.]
muscle tissue disorder	MONDO_0003939	[A disease involving the muscle tissue.]
mesenchymal cell neoplasm	MONDO_0002616	[A benign, intermediate, or malignant neoplasm that arises from the mesenchyma-derived cells of the soft tissue or bone. Representative examples include lipoma, leiomyoma, leiomyosarcoma and osteosarcoma.]
Bartholin Gland Squamous Cell Carcinoma	EFO_1000104	[A carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant squamous epithelial cells.]
Bartholin Gland Carcinoma	EFO_1000103	[A carcinoma that arises from the Bartholin gland. It usually affects women over fifty and presents with enlargement of the Bartholin gland. Various histologic subtypes have been identified and include adenocarcinoma, squamous cell carcinoma, adenoid cystic carcinoma, adenosquamous carcinoma, transitional cell carcinoma, and small cell carcinoma.]
Basaloid Carcinoma	EFO_1000105	[A malignant epithelial neoplasm characterized by the presence of neoplastic cells with hyperchromatic nuclei, small amount of cytoplasm, and peripheral nuclear palisading.]
B-Cell Prolymphocytic Leukemia	EFO_1000102	[A neoplasm of prolymphocytes affecting the blood, bone marrow, and spleen. It is characterized by prolymphocytes exceeding 55% of the lymphoid cells in the blood and profound splenomegaly.]
neoplasm of mature B-cells	EFO_0000096	[A neoplasm of follicle centre B cells which has at least a partial follicular pattern. Follicular lymphomas comprise about 35% of adult non-Hodgkin lymphomas in the U.S. and 22% worldwide. Most patients have widespread disease at diagnosis. Morphologically, follicular lymphomas are classified as Grade 1, Grade 2, and Grade 3, depending on the percentage of the large lymphocytes present. The vast majority of cases (70-95%) express the BCL-2 rearrangement [t(14;18)]. Histological grade correlates with prognosis. Grades 1 and 2 follicular lymphomas are indolent and grade 3 is more aggressive (adapted from WHO, 2001).]
aggressive B-cell non-Hodgkin lymphoma	MONDO_0017595
familial thyroglossal duct cyst	MONDO_0008565	[Familial thyroglossal duct cyst (TDC) is a very rare inherited form of TDC characterized by a mass measuring 3 cm in diameter or less in the midline area of the neck.]
cysts and fistulae of the face and oral cavity	MONDO_0015476
integumentary system cancer	MONDO_0000653	[A malignant neoplasm involving the integumental system]