Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Bladder Adenocarcinoma	EFO_1000125	[A carcinoma that arises from glandular epithelial cells of the urinary bladder]
urinary bladder carcinoma	MONDO_0004986	[A carcinoma that arises from epithelial cells of the urinary bladder]
Benign Thyroid Gland Neoplasm	EFO_1000122	[A benign neoplasm arising from the thyroid gland.]
Bile Duct Adenoma	EFO_1000123	[A benign, well-demarcated polypoid neoplasm arising from the bile duct epithelium. According to the growth pattern, it is classified as tubular, papillary, or tubulopapillary. Adenomas arising from the extrahepatic bile ducts usually produce symptoms related to biliary obstruction.]
Benign Skin Appendage Neoplasm	EFO_1000120	[A non-metastasizing neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands. Representative examples include cylindroma, hidrocystoma, hidradenoma, and sebaceoma.]
Benign Smooth Muscle Neoplasm	EFO_1000121	[A benign mesenchymal neoplasm arising from smooth muscle tissue.]
smooth muscle tumor	EFO_1001185	[A benign or malignant myomatous neoplasm arising from smooth muscle.]
benign muscle neoplasm	MONDO_0003061	[A benign mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle tissue.]
trichomegaly	MONDO_0008593
tricho-dento-osseous syndrome	MONDO_0008592	[Tricho-dento-osseous dysplasia (TDO) belongs to the ectodermal dysplasias and is characterised by curly/kinky hair at birth, enamel hypoplasia with discolouration and molar taurodontism, increased overall bone mineral density (BMD) and increased thickness of the cortical bones of the skull.]
Bladder Paraganglioma	EFO_1000128	[A benign or malignant extra-adrenal sympathetic paraganglioma arising from the urinary bladder. Clinical signs include hypertension and hematuria.]
Bladder Small Cell Neuroendocrine Carcinoma	EFO_1000129	[A highly aggressive carcinoma, histologically resembling small cell lung carcinoma. In most cases it is associated with carcinoma in situ.]
ependymal tumor of spinal cord	MONDO_0021546	[An ependymal tumor that arises from the spinal cord.]
ependymal neoplasm	EFO_1000027	[A group of neoplasms which arise from the ependymal lining of the cerebral ventricles and from the remnants of the central canal of the spinal cord. Ependymal tumors occur predominantly in children and young adults with varied morphological features and biological behavior. There are 4 types: ependymoma, anaplastic ependymoma, myxopapillary ependymoma and subependymoma. (WHO)]
combined oxidative phosphorylation deficiency 46	MONDO_0033534
total early-onset cataract	MONDO_0021548
combined oxidative phosphorylation deficiency 45	MONDO_0033533
Suleiman-El-Hattab syndrome	MONDO_0033532
Bladder Squamous Cell Carcinoma	EFO_1000130	[A squamous cell carcinoma of the bladder arising from metaplastic epithelium. It represents less than 10% of bladder carcinomas. The exception is the Middle East along the Nile Valley, where it represents the most common form of carcinoma because of the endemic nature of schistosomiasis. Bladder squamous cell carcinoma is often associated with long-standing chronic inflammation of the bladder and usually has a poor prognosis. The diagnosis of squamous cell carcinoma of the bladder should be reserved for those tumors that are predominantly keratin forming.]
transverse myelitis	MONDO_0021553