Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
mitochondrial DNA depletion syndrome 19	MONDO_0033545
obsolete_qualitative or quantitative defects of myotilin	Orphanet_209224
Tolchin-Le Caignec syndrome	MONDO_0033544
rhizome	PO_0004542	[A somewhat elongate usually horizontal subterranean plant stem that is often thickened by deposits of reserve food material, produces shoots above and roots below, and is distinguished from a true root in possessing buds, nodes, and usually scalelike leaves.]
cone-rod synaptic disorder syndrome, congenital nonprogressive	MONDO_0033543
immunodeficiency 70	MONDO_0033542
immunodeficiency 69	MONDO_0033541
obsolete_partial deletion of chromosome 9	Orphanet_261806
disease course	OGMS_0000063	[The totality of all processes through which a given disease instance is realized.]
wood parenchyma	PO_0004532
xylem	PO_0005352	[A portion of vascular tissue (PO:0009015) that has as part one or more tracheary elements (PO:0000290).]
obsolete_partial deletion of chromosome 8	Orphanet_261801
combined oxidative phosphorylation deficiency 47	MONDO_0033537
combined oxidative phosphorylation deficiency	MONDO_0000732	[A mitochondrial oxidative phosphorylation disorder in which multiple mitochondrial respiratory chain complexes.]
Bladder Flat Intraepithelial Lesion	EFO_1000126	[A non-papillary neoplasm of the urinary bladder, whose classification categories include low-grade intraurothelial neoplasia and urothelial carcinoma in situ.]
bladder tumor	EFO_0000294	[A benign or malignant, primary or metastatic neoplasm of the bladder. - 2003]
Bladder Inflammatory Myofibroblastic Tumor	EFO_1000127	[A multinodular intermediate fibroblastic neoplasm arising from the bladder. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells.]
Anal fissure	HP_0012390	[A small tear in the thin, moist tissue (mucosa) that lines the anus. It appears as a crack or slit in the mucous membrane of the anus.]
Abnormality of the anus	HP_0004378	[Abnormality of the anal canal.]
hereditary geniospasm	MONDO_0008588	[Hereditary geniospasm is a movement disorder characterized by episodes of involuntary tremor of the chin and lower lip.]