Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Epithelioid Cell Uveal Melanoma	EFO_1000244	[A uveal melanoma characterized by the presence of malignant large epithelioid melanocytes.]
epithelioid cell melanoma	MONDO_0002973	[A melanoma characterized by the presence of malignant large epithelioid melanocytes.]
Endometrial Stromal Nodule	EFO_1000241	[A non-infiltrating, benign mesenchymal neoplasm arising from the uterine corpus. It is characterized by the presence of neoplastic cells that resemble the cells of the proliferative phase of endometrial stroma and numerous thin-walled small vessels. It usually presents with abnormal uterine bleeding and menorrhagia.]
Endometrial Undifferentiated Carcinoma	EFO_1000242	[A primary carcinoma of the endometrium characterized by the presence of malignant cells that lack evidence of differentiation.]
spondyloepiphyseal dysplasia, MacDermot type	MONDO_0008472	[Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness.]
spondyloepiphyseal dysplasia congenita	MONDO_0008471	[Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.]
Extramammary Paget Disease	EFO_1000249	[A malignant neoplasm in which there is infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It may affect the anus, penis, scrotum, and vulva.]
Paget disease	MONDO_0021165	[A malignant neoplasm composed of large cells with large nuclei, prominent nucleoli, and abundant pale cytoplasm (Paget cells). Paget cell neoplasms include Paget disease of the nipple and extramammary Paget disease which may affect the vulva, penis, anus, skin and scrotum.]
obsolete_aspartylglucosaminuria	Orphanet_93
obsolete_Friedreich ataxia	Orphanet_95	[Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing.]
Ataxia with vitamin E deficiency	Orphanet_96	[Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E.]
Familial paroxysmal ataxia	Orphanet_97	[Episodic ataxia type 2 (EA2) is the most frequent form of Hereditary episodic ataxia (EA; see this term) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia.]
Autosomal recessive spastic ataxia of Charlevoix-Saguenay	Orphanet_98
obsolete_autosomal dominant cerebellar ataxia	Orphanet_99
Extraskeletal Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor	EFO_1000250	[A spectrum of malignant tumors arising from the soft tissues, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. Pain and the presence of a mass are the most common clinical symptoms.]
Fallopian Tube Carcinoma	EFO_1000251	[A carcinoma that arises from epithelial cells of the fallopian tube.]
fallopian tube cancer	MONDO_0002158	[A primary or metastatic malignant neoplasm that affects the fallopian tube. Representative examples include carcinoma, carcinosarcoma, and leiomyosarcoma.]
Fibrous Meningioma	EFO_1000258	[A WHO grade I meningioma characterized by the presence of spindle cells that form bundles in a collagen matrix.]
Flat Urothelial Hyperplasia	EFO_1000259	[A type of hyperplasia that is characterized by a marked thickening of the urinary tract epithelium. There is no evidence of cytologic atypia. -- 2003]
urothelial hyperplasia	MONDO_0024483	[Hyperplasia of the transitional epithelium of the urinary tract. Morphologically it is subdivided into flat and papillary hyperplasia. -- 2003]