Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
autosomal dominant nonsyndromic hearing loss 40	MONDO_0014603	[Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CRYM gene.]
N(omega),N'(omega)-dimethyl-L-arginine	CHEBI_25682	[A L-arginine derivative having two methyl groups at the N(omega)- and N'(omega)-positions]
autosomal recessive spinocerebellar ataxia 20	MONDO_0014601	[Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the SNX14 gene.]
bone fibrosarcoma	MONDO_0002619	[A usually aggressive malignant neoplasm arising from the bone. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.]
biofilm	BTO_0002690
xanthoma	EFO_0003075	[A non-neoplastic disorder characterized by a localized collection of histiocytes containing lipid. Xanthomas usually occur in the skin and subcutaneous tissues, but occasionally they may involve the deep soft tissues. , A non-neoplastic disorder characterized by a localized collection of histiocytes containing lipid. Xanthomas usually occur in the skin and subcutaneous tissues, but occasionally they may involve the deep soft tissues.]
undifferentiated high grade pleomorphic sarcoma of bone	MONDO_0002618	[A rare, high-grade pleomorphic malignant neoplasm arising from the bone. It usually presents with pain which may or may not be associated with swelling in the affected area. It is characterized by the presence of spindle-shaped cells, polygonal or epithelioid cells, multinucleated giant cells, and inflammatory cells. The neoplastic cells exhibit nuclear pleomorphism and high mitotic activity. It metastasizes frequently, most often in the lungs.]
obsolete_head visceral muscle primordium	EFO_0003361
obsolete_ventral imaginal precursor	EFO_0003360
mid cerebral vein	UBERON_2005010	[The mesencephalic veins (MsV) enter the mid cerebral veins (MCeV) at the dorsal midline. THe MCeVs originate at the dorsal midline, proceede lateraly in a ventral direction to drain into the paired primordial midbrain channels (PHBC). ogai et al. 2001., Kimmel et al. 1993.]
vasculature of head	UBERON_0002200	[Vasculature that is part of a head [Automatically generated definition].]
obsolete_amnioserosa primordium	EFO_0003363
obsolete_central brain anlage	EFO_0003362
Stress urinary incontinence	HP_0010992	[Involuntary urine leakage synchronous with exertion, or actions such as sneezing, or coughing.]
obsolete_longitudinal visceral muscle primordium	EFO_0003365
extraosseous osteosarcoma	MONDO_0002621	[An osteosarcoma arising from the soft tissue.]
obsolete_visceral branch primordium	EFO_0003364
obsolete_oenocyte primordium	EFO_0003367
obsolete_primary segmental branch primordium	EFO_0003366
obsolete_Malpighian tubule primordium	EFO_0003369