Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
thyroid lymphoma	MONDO_0019962	[A lymphoma primarily involving the thyroid gland.]
diffuse large B-cell lymphoma	EFO_0000403	[Diffuse large B-cell lymphoma is the most common subtype of non-Hodgkin lymphoma (NHL) in adults characterized by a median age of presentation in the sixth decade of life (but also rarely occurring in adolescents and children) with the initial presentation being single or multiple rapidly growing masses (that may or may not be painful) in nodal or extranodal sites (such as thyroid, skin, breast, gastrointestinal tract, testes, bone, or brain) and that can be accompanied by symptoms of fever, night sweats and weight loss. DLBCL has an aggressive disease course, with the elderly having a poorer prognosis than younger patients, and with relapses being common.]
obsolete_genetic gastro-esophageal disease	Orphanet_165658
Thymoma Type B1	EFO_1000584	[A thymic epithelial neoplasm characterized by the presence of expanded areas which resemble the normal thymic cortex. The neoplastic epithelial cells are small and scant and there is a dense T-lymphocytic component present. Areas of medullary differentiation with or without Hassall's corpuscles are also present. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It has a low grade malignant potential. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II tumors.]
thymoma type B	MONDO_0016974	[An epithelial neoplasm arising from the thymus. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It includes thymoma type B1 which is a thymoma of low grade malignant potential, thymoma type B2 which is a thymoma of moderate malignancy, and thymoma type B3 which is also known as well differentiated thymic carcinoma.]
Thyroglossal Duct Cyst	EFO_1000585	[A congenital benign cyst arising from the remnants of the thyroglossal duct. It is usually located in the midline of the neck.]
Thymoma Type AB	EFO_1000582	[A thymic epithelial neoplasm characterized by the presence of a lymphocyte-poor component similar to that seen in type A thymoma and a lymphocyte-rich component which contains neoplastic small polygonal epithelial cells. It may be associated with myasthenia gravis and pure red cell aplasia. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II or stage III tumors. The overall survival is reported to be 80-100% at 5 and 10 years.]
Thymoma Type B3	EFO_1000583	[Also known as well-differentiated thymic carcinoma, atypical thymoma, or epithelial thymoma, this type of thymoma displays morphologic characteristics of a well-differentiated carcinoma. The majority of cases occur in the anterior mediastinum as Masaoka stage II or stage III tumors. It is almost always invasive, it recurs frequently, and metastasizes in approximately 20% of the cases.]
Pierre Robin syndrome associated with a chromosomal anomaly	Orphanet_138047
visual perception	GO_0007601	[The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image.]
sensory perception	GO_0007600	[The series of events required for an organism to receive a sensory stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process.]
obsolete rare hereditary disease with avascular necrosis	MONDO_0018377
Glanzmann thrombasthenia 1	MONDO_0031332	[A bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia]
Glanzmann thrombasthenia	MONDO_0100326
primary avascular necrosis	MONDO_0018379
avascular necrosis	MONDO_0018373	[Necrotic changes in the bone tissue due to interruption of blood supply. Most often affecting the epiphysis of the long bones, the necrotic changes result in the collapse and the destruction of the bone structure.]
secondary avascular necrosis	MONDO_0018374
sensory perception of sound	GO_0007605	[The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound.]
osteonecrosis	EFO_0004259	[Death of a bone or part of a bone, either atraumatic or posttraumatic., A none disease characterized by death of bone tissue due to a lack of blood supply.]
KLHL9-related early-onset distal myopathy	MONDO_0018370	[KLHL9-related early-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal limb muscle weakness and atrophy (beginning with anterior tibial muscle involvement followed by the intrinsic hand muscles) in association with reduced sensation in a stocking-glove distribution. Patients present with high stepping gait, ankle areflexia and contractures in the first to second decade of life, associated with marked ankle extensor muscle atrophy; later proximal muscle involvement is moderate and ambulation is preserved throughout the life.]