Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
rectosigmoid adenocarcinoma	EFO_1001966	[An adenocarcinoma arising from the rectosigmoid area. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, rectosigmoid adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma.]
obsolete_hereditary glaucoma	Orphanet_359
obsolete_Gitelman syndrome	Orphanet_358
obsolete_Gerstmann-Straussler-Scheinker syndrome	Orphanet_356	[A prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain.]
obsolete_Gaucher disease	Orphanet_355	[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) (see these terms).]
obsolete_GM1 gangliosidosis	Orphanet_354	[GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features.]
obsolete_autosomal recessive limb-girdle muscular dystrophy type 2C	Orphanet_353
vulvar leiomyosarcoma	EFO_1001975	[An aggressive malignant smooth muscle neoplasm, arising from the vulva. It is characterized by a proliferation of neoplastic spindle cells.]
obsolete_galactosemia	Orphanet_352
uterine leiomyosarcoma	EFO_1001974	[An aggressive malignant smooth muscle neoplasm, arising from the uterine corpus. It is characterized by a proliferation of neoplastic spindle cells.]
obsolete_galactosialidosis	Orphanet_351
ureter urothelial carcinoma	EFO_1001973	[A carcinoma that arises from the transitional epithelium of the ureter. It is associated with tobacco use and usually presents with gross or microscopic hematuria.]
thyroid gland sarcoma	EFO_1001971	[A malignant soft tissue neoplasm primarily involving the thyroid gland.]
squamous papilloma	EFO_1001970	[A benign epithelial neoplasm characterized by a papillary growth pattern and a proliferation of neoplastic squamous cells without morphologic evidence of malignancy. Most frequently it arises in the oral cavity, nasopharynx, larynx, esophagus, vagina, and vulva.]
Guanosine Diphosphate	NCIT_C535
Adrenocorticotropic hormone deficiency	EFO_1001979	[Subnormal concentration of adrenocorticotropic hormone (ACTH) resulting in decreased secretion of cortisol by the adrenal gland., A hypopituitarrium that is characterized by a decreased or absent production of adrenocorticotropic hormone by the pituitary gland.]
3MC syndrome 1	EFO_1001978	[Any 3MC syndrome in which the cause of the disease is a mutation in the MASP1 gene., A type of 3MC syndrome which is that has material basis in homozygous mutation in the MASP1 gene on chromosome 3q27.]
3MC syndrome	MONDO_0017398	[3MC syndrome describes a rare developmental disorder, that unifies the overlapping autosomal recessive disorders previously known as Carnevale, Mingarelli, Malpuech and Michels syndromes, characterized by a spectrum of developmental anomalies that include distinctive facial dysmorphism (i.e. hypertelorism, blepharophimosis, blepharoptosis, highly arched eyebrows), cleft lip and/or palate, craniosynostosis, learning disability, radioulnar synostosis and genital and vesicorenal anomalies. Less common features reported include anterior chamber defects, cardiac anomalies (e.g. ventricular septal defect), caudal appendage, umbilical hernia/omphalocele and diastasis recti.]
3MC syndrome 2	EFO_1001977	[A type of 3MC syndrome which is that has material basis in homozygous mutation in the COLEC11 gene on chromosome 2p25., Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC11 gene.]
cardioembolic stroke	EFO_1001976	[stroke caused by the blockage of blood flow in a brain vessel through a clot or other foreign matters pumped from the heart to the brain]