Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
neoplasm of jaw	MONDO_0021580	[A neoplasm (disease) that involves the jaw skeleton.]
skull neoplasm	MONDO_0024653	[A benign or malignant neoplasm that affects the bones and structures of the skull.]
Brain Stem Glioma	EFO_1000142	[A neuroglial tumor that arises from the brain stem.]
brain glioma	MONDO_0005499	[A malignant glioma that involves the brain.]
brainstem cancer	MONDO_0002912	[A primary or metastatic malignant neoplasm that affects the brain stem.]
hemophagocytic lymphohistiocytosis, familial, 6	MONDO_0033557
Emery-Dreifuss muscular dystrophy 2, autosomal dominant	MONDO_0021569	[Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene.]
autosomal dominant Emery-Dreifuss muscular dystrophy	MONDO_0020336	[Autosomal dominant form of Emery-Dreifuss muscular dystrophy.]
X-linked Emery-Dreifuss muscular dystrophy	MONDO_0010680	[X-linked form of Emery-Dreifuss muscular dystrophy.]
muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15	MONDO_0033556
muscular dystrophy-dystroglycanopathy, type B	MONDO_0000172
immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia	MONDO_0033555
immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia	MONDO_0033554
immunodeficiency 72 with autoinflammation	MONDO_0033551
Cavernous Hemangioma	EFO_1000151	[A hemangioma characterized by the presence of cavernous vascular spaces.]
hematopoietic and lymphoid system neoplasm	MONDO_0002334	[Neoplasms of the hematopoietic system, including hematopoietic cell neoplasms (e.g. leukemias, lymphomas) and non-hematopoietic cell neoplasms that can affect the hematopoietic system (e.g. lymph node and splenic sarcomas). --2003]
vascular hemostatic disease	MONDO_0003159	[Pathological processes involving the integrity of blood circulation. Hemostasis depends on the integrity of blood vessels, blood fluidity, and blood coagulation. Majority of the hemostatic disorders are caused by disruption of the normal interaction between the vascular endothelium, the plasma proteins (including blood coagulation factors), and platelets.]
Cavernous Hemangioma of the Face	EFO_1000152	[A cavernous hemangioma arising from the face.]
Cardiac Rhabdomyoma	EFO_1000150	[A well circumscribed benign tumor arising from cardiac muscle. It usually affects children and may be present in the fetus. Depending on tumor location and size, cardiac, respiratory, and hemodynamic parameters may be affected. There is an association between cardiac rhabdomyoma and tuberous sclerosis.]
benign neoplasm of heart	MONDO_0021450	[A benign neoplasm that involves the heart.]