Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
lateral sclerosis	MONDO_0018155	[Primary lateral sclerosis (PLS) is an idiopathic non-familial motor neuron disease characterized by slowly progressive upper motor neuron dysfunction leading to spasticity, mild weakness in voluntary muscle movement, hyperreflexia, and loss of motor speech production.]
Meningioangiomatosis	EFO_1000371	[A rare vascular malformation in the cerebral cortex and overlying leptomeninges. It can occur sporadically or in association with neurofibromatosis type 2.]
Gaucher disease	MONDO_0018150	[Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease).]
Meningothelial Meningioma	EFO_1000372	[A WHO grade I meningioma characterized by the presence of tumor cells that form lobules. The tumor cells are generally uniform. Whorls and psammoma bodies are usually not present.]
Hair-pulling	HP_0012167	[A phenomenon in which persons repetitively pull out their own hair, resulting in noticeable hair loss.]
Meningeal Melanocytoma	EFO_1000370	[A usually well differentiated melanocytic neoplasm arising from the meninges. It is characterized by the presence of epithelioid, fusiform, polyhedral, and spindle melanocytes without evidence of hemorrhage, necrosis, or high mitotic activity. Presenting symptoms include headache, vomiting, and neurological manifestations. Complete excision is usually curative.]
Minor Salivary Gland Adenocarcinoma	EFO_1000379	[An adenocarcinoma that arises from the minor salivary glands.]
minor salivary gland carcinoma	MONDO_0045069	[A carcinoma that arises from the minor salivary glands. Representative examples include adenoid cystic carcinoma, acinic cell carcinoma, polymorphous low grade adenocarcinoma, and mucinous adenocarcinoma.]
Cryptococcus gattii	NCBITaxon_552467
Micropapillary Serous Carcinoma	EFO_1000377	[An adenocarcinoma characterized by the presence of complex micropapillary structures covered by round and cuboidal cells with a high nuclear to cytoplasmic ratio.]
Middle Ear Squamous Cell Carcinoma	EFO_1000378	[A rare squamous cell carcinoma that arises from the middle ear.]
middle ear carcinoma	MONDO_0003190	[A carcinoma that arises from epithelial cells of the middle ear]
head and neck squamous cell carcinoma	EFO_0000181	[A squamous cell carcinoma that arises from any of the following anatomic sites: lip and oral cavity, nasal cavity, paranasal sinuses, pharynx, larynx, and salivary glands.]
Metaplastic Meningioma	EFO_1000375	[A WHO grade I meningioma characterized by the presence of a prominent mesenchymal component. The mesenchymal component may be osseous, cartilaginous, myxoid, lipomatous, or a mixture of mesenchymal elements.]
Microcystic Meningioma	EFO_1000376	[A WHO grade I meningioma characterized by the presence of intercellular microcystic spaces that contain mucinous fluid.]
Metanephric Adenoma	EFO_1000373	[A benign, well-circumscribed renal cortical neoplasm affecting females more often than males. Polycythemia has been reported in twelve-percent of patients.]
renal adenoma	MONDO_0002395	[An adenoma arising from the renal cortex.]
obsolete_metaplastic Breast Carcinoma	EFO_1000374	[A group of invasive breast carcinomas characterized by the presence of an adenocarcinomatous component which is admixed with a dominant component that is composed of squamous cells, spindle cells, or mesenchymal cells.]
morning glory syndrome	MONDO_0018169	[Morning glory syndrome (MGS) is an optic neuropathy characterized by a congenital funnel shaped excavation of the posterior fundus that incorporates the optic disc malformation (resembling the morning glory flower) MGS is usually unilateral and may result in a decrease in best-corrected visual acuity (BCVA). MGS either occurs isolated or associated to other ocular or non-ocular anomalies.]
hereditary optic neuropathy	MONDO_0020249