Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
autosomal recessive lower motor neuron disease with childhood onset	MONDO_0012608	[A rare, genetic, neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported.]
thoracic aortic raised atherosclerotic lesion	EFO_0005618	[An atherosclerotic abnormality of the thoracic aorta used as a container term for fibrous plaques, complicated lesions, and calcified lesions.]
17q11 microdeletion syndrome	Orphanet_97685	[17q11 microdeletion syndrome is a rare severe form of Neurofibromatosis type 1 (NF1; see this term) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies and a large number of neurofibromas.]
Phakomatosis with eye involvement	Orphanet_98701
Neurocutaneous syndrome with epilepsy	Orphanet_166466
acyl-CoA dehydrogenase 9 deficiency	MONDO_0012624	[A rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy.]
deafness-infertility syndrome	MONDO_0012621	[Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility.]
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	MONDO_0012622	[This disease is characterised by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter.]
benign glioma	MONDO_0000638	[A form of glioma without malignant characteristics.]
lung adenocarcinoma grade	EFO_0005620
vulvar benign neoplasm	MONDO_0000643	[A non-metastasizing neoplasm that arises from the vulva. Representative examples include cellular angiofibroma, melanocytic nevus, nodular hidradenoma, and Bartholin gland adenoma.]
distal colitis	EFO_0005623	[Particular variety of ulcerative colitis where only the left half of the colon is inflamed.]
ileocolitis	EFO_0005624	[Ileocolitis or ileal Crohn's is the most common type of Crohn's disease. It affects both the ileum (small intestine) and the colon., Ileocolitis or ileal Crohn's is the most common type of Crohn's disease. It affects both the ileum (small intestine) and the colon. ]
Crohn's colitis	EFO_0005622	[Crohn's colitis is a type of Crohn's disease that affects the large intestine., Crohn's disease affecting the colon.]
Dreissena polymorpha	NCBITaxon_45954
perianal Crohn's disease	EFO_0005627	[An Crohn disease involving a pathogenic inflammatory response in the anal canal., Perianal Crohn's disease is a type of Crohn's disease affecting the anus.]
proctitis	EFO_0005628	[An inflammatory process affecting the anus. It is usually caused by sexually transmitted infectious agents and/or inflammatory bowel disease., Proctitis is an inflammation of the rectum.]
oral Crohn's disease	EFO_0005625	[Crohn's disease affecting the mouth.]
pancolitis	EFO_0005626	[Ulcerative colitis that involves the entire colon., Pancolitis is a severe form of ulcerative colitis.]
breast cancer stage	EFO_0005607	[A staging of breast cancer for example by the American Joint Committee on Cancer, stage 7, or other coding system.]