Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
multinodular goiter-cystic kidney-polydactyly syndrome	MONDO_0007680	[Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies.]
X-11593--O-methylascorbate measurement	EFO_0021256	[Quantification of the amount of X-11593--O-methylascorbate in a sample.]
superficial spreading melanoma	MONDO_0020638	[A type of melanoma that typically occurs in light-skinned individuals ranging in age from young adults to the elderly. Risk factors include extensive sun exposure during childhood, a family history of melanoma, and the presence of dysplastic nevi.]
X-11792 measurement	EFO_0021259	[Quantification of the amount of X-11792 in a sample.]
X-11787 measurement	EFO_0021258	[Quantification of the amount of X-11787 in a sample.]
obsolete X and Y chromosomal anomaly	MONDO_0017006
hypochondrogenesis	MONDO_0019669
X-11546 measurement	EFO_0021253	[Quantification of the amount of X-11546 in a sample.]
partial deletion of chromosome X	MONDO_0017003
X-11540 measurement	EFO_0021252	[Quantification of the amount of X-11540 in a sample.]
grade III meningioma	MONDO_0020634	[A malignant meningioma with aggressive clinical course. It recurs in approximately 50-78% of the cases. This category includes the anaplastic (malignant) meningioma, papillary meningioma, and rhabdoid meningioma.]
partial duplication of chromosome X	MONDO_0017008
X-11552 measurement	EFO_0021255	[Quantification of the amount of X-11552 in a sample.]
X-11550 measurement	EFO_0021254	[Quantification of the amount of X-11550 in a sample.]
obsolete polysomy of X chromosome	MONDO_0017002
monostotic fibrous dysplasia	MONDO_0019665	[Fibrous dysplasia of bone involving only one bone.]
serum amyloid A-1 protein measurement	EFO_0008282	[quantification of the amount of serum amyloid A-1 protein in a sample]
obsolete short rib-polydactyly syndrome, Verma-Naumoff type	MONDO_0019664
serum amyloid P-component measurement	EFO_0008283	[quantification of the amount of serum amyloid P-component in a sample]
sialic acid-binding Ig-like lectin 14 measurement	EFO_0008284	[quantification of the amount of sialic acid-binding Ig-like lectin 14 in a sample]