Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
EBV-Positive T-Cell Lymphoproliferative Disorder of Childhood	EFO_1000228	[An Epstein-Barr virus-associated mature T-cell lymphoproliferative group of disorders affecting children. It occurs with increased frequency in Asians and Native Americans. It includes the systemic EBV-positive T-cell lymphoma of childhood and the hydroa vacciniforme-like lymphoma.]
neoplasm of mature T-cells or NK-cells	EFO_0002426	[A group of neoplasms composed of T-lymphocytes with a mature (peripheral/post-thymic) immunophenotypic profile and/or NK-cells.]
Endometrial Mucinous Adenocarcinoma	EFO_1000236	[A primary, usually low grade adenocarcinoma of the endometrium in which the majority of the malignant epithelial cells contain abundant intracytoplasmic mucin.]
spinocerebellar ataxia type 2	MONDO_0008458	[Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea.]
familial amyotrophic lateral sclerosis	EFO_0001356	[Familial amyotrophic lateral sclerosis is a amyotrophic lateral sclerosis in which a family history of the disease exists., An instance of amyotrophic lateral sclerosis that is caused by an inherited modification of the individual's genome.]
autosomal dominant cerebellar ataxia type I	MONDO_0019792	[Autosomal dominant cerebellar ataxia (ADCA) type I is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement.]
Endometrial Polyp	EFO_1000237	[A benign nodular lesion protruding above the surface of the endometrium. It is composed of a fibrous stroma that contains thick-walled blood vessels and dilated endometrial glands. Polypectomy is the treatment of choice. Only few cases with recurrence have been reported.]
endometrial disorder	MONDO_0000931	[A non-neoplastic or neoplastic disorder that affects the endometrium. Representative examples include endometritis, endometrial hyperplasia, and endometrial carcinoma.]
spinocerebellar ataxia type 6	MONDO_0008457	[Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus.]
autosomal dominant cerebellar ataxia type III	MONDO_0019793	[Autosomal dominant cerebellar ataxia (ACDA) type III is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31.]
Endometrial Hyperplasia without Atypia	EFO_1000234	[Simple or complex endometrial hyperplasia characterized by the absence of epithelial atypia.]
Endometrial Intraepithelial Neoplasia	EFO_1000235	[A premalignant neoplastic process that affects the endometrial epithelium and glands. It is characterized by architectural glandular alterations and cytological abnormalities in the epithelial cells. The lesion exceeds 1 mm in maximum linear dimension.]
Endometrial Cyst	EFO_1000232	[It is caused by endometriosis, and formed when a tiny patch of endometrial tissue (the mucous membrane that makes up the inner layer of the uterine wall) bleeds, sloughs off, becomes transplanted, and grows and enlarges inside the ovaries. As the blood builds up over months and years, it turns brown. When it ruptures, the material spills over into the pelvis and onto the surface of the uterus, bladder, bowel, and the corresponding spaces between.]
Endometrial Endometrioid Adenocarcinoma	EFO_1000233	[A primary endometrial adenocarcinoma composed of neoplastic cells that form complex glandular patterns associated with budding and branching of the neoplastic glands. The neoplastic glands resemble those of the normal endometrium and may or may not be associated with sheet-like proliferation of malignant cells. Endometrioid adenocarcinoma is the most commonly seen morphologic variant of endometrial adenocarcinoma.]
adult-onset proximal spinal muscular atrophy, autosomal dominant	MONDO_0008453
Endolymphatic Sac Tumor	EFO_1000230	[An aggressive epithelial neoplasm arising from the temporal bone. It is characterized by the presence of a papillary pattern, and has been described as an adenoma or carcinoma in the literature. There is disagreement regarding its relationship to endolymphatic sac tumor.]
inner ear neoplasm	MONDO_0024320	[A rare neoplasm that arises from the inner ear. Representative examples include lipoma and acoustic schwannoma.]
spinal muscular atrophy, facioscapulohumeral type	MONDO_0008452
Endometrial Clear Cell Adenocarcinoma	EFO_1000231	[A clear cell adenocarcinoma that involves the endometrium.]
neuronopathy, distal hereditary motor, type 1	MONDO_0008451	[An autosomal dominant neurodegenerative disorder characterized by juvenile onset, distal motor weakness without sensory impairment, and anterior horn cell degeneration.]